question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 45507544, gene MMACHC (metabolism of cobalamin associated C): what disease(s) if pathogenic? | pathogenic; ['Cobalamin_C_disease'] | GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAAT... | GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAAT... | pathogenic | 8,817 |
Does the genetic variant at chromosome 1, position 45508219, impacting gene MMACHC (metabolism of cobalamin associated C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATT... | GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATT... | pathogenic | 8,823 |
Variant at chromosome 1, position 45508242, gene MMACHC (metabolism of cobalamin associated C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cobalamin_C_disease'] | CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGG... | CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGG... | pathogenic | 8,825 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508260 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAG... | TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAG... | pathogenic | 8,829 |
Does the variant impacting MMACHC (metabolism of cobalamin associated C) on chromosome 1, position 45508284, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cobalamin_C_disease', 'likely other unspecified diseases'] | CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTT... | CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTT... | pathogenic | 8,832 |
Regarding the variant at chromosome 1 and position 45508316, affecting gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder'] | TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAA... | TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAA... | pathogenic | 8,833 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508318 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cobalamin_C_disease'] | TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGC... | TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGC... | pathogenic | 8,834 |
Variant chromosome 1, position 45508332, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)? | pathogenic; ['Cobalamin_C_disease'] | TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTC... | TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTC... | pathogenic | 8,838 |
Evaluate this variant at chromosome 1, position 45508798, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cobalamin_C_disease'] | GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAG... | GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAG... | pathogenic | 8,842 |
Located at chromosome 1 position 45508799, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cobalamin_C_disease'] | TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGG... | TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGG... | pathogenic | 8,843 |
A mutation at chromosome position 45508805 on chromosome 1 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAG... | GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAG... | pathogenic | 8,845 |
Chromosome 1, position 45508809, gene MMACHC (metabolism of cobalamin associated C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cobalamin_C_disease'] | ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATC... | ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATC... | pathogenic | 8,848 |
Variant chromosome 1, position 45508862, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)? | pathogenic; ['Cobalamin_C_disease'] | GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACT... | GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACT... | pathogenic | 8,860 |
Mutation at chromosome 1, position 45508864, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cobalamin_C_disease'] | AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCC... | AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCC... | pathogenic | 8,861 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508869 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cobalamin_C_disease'] | GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCT... | GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCT... | pathogenic | 8,862 |
Variant in gene MMACHC (metabolism of cobalamin associated C), located at chromosome 1 position 45508870: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cobalamin_C_disease'] | ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTG... | ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTG... | pathogenic | 8,863 |
Gene MMACHC (metabolism of cobalamin associated C) variant at chromosome 1, position 45508905—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cobalamin_C_disease'] | TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATG... | TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATG... | pathogenic | 8,864 |
Mutation at chromosome 1, position 45508909, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATT... | TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATT... | pathogenic | 8,865 |
Variant in MMACHC (metabolism of cobalamin associated C), chromosome 1, position 45508913—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cobalamin_C_disease'] | TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCT... | TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCT... | pathogenic | 8,866 |
Located at chromosome 1 position 45508929, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cobalamin_C_disease'] | GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAG... | GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAG... | pathogenic | 8,867 |
Gene mutation in MMACHC (metabolism of cobalamin associated C) at chromosome 1, position 45508932—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTG... | AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTG... | pathogenic | 8,871 |
Variant chromosome 1, position 45508979, gene MMACHC: benign or pathogenic? Disease(s)? | pathogenic; ['Cobalamin_C_disease'] | AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAG... | AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAG... | pathogenic | 8,879 |
Regarding the variant found on chromosome 1 at position 45508982 in gene MMACHC: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cobalamin_C_disease'] | CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGA... | CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGA... | pathogenic | 8,883 |
Regarding the variant at chromosome 1 and position 45508989, affecting gene MMACHC: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cobalamin_C_disease'] | GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAG... | GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAG... | pathogenic | 8,886 |
Chromosome 1, position 45508991, gene MMACHC: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cobalamin_C_disease'] | CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGC... | CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGC... | pathogenic | 8,887 |
The chromosome 1, position 45508996 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cobalamin_C_disease'] | CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGG... | CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGG... | pathogenic | 8,888 |
The chromosome 1, position 45509021 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder', 'Methylmalonic_acidemia_with_homocystinuria_cblC'] | CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAA... | CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAA... | pathogenic | 8,890 |
Evaluate this variant at chromosome 1, position 46189476, gene TSPAN1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGT... | ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGT... | pathogenic | 8,922 |
A mutation at chromosome position 46189875 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACC... | CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACC... | pathogenic | 8,936 |
Does the variant on chromosome 1 at location 46189893 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy'] | GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATG... | GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATG... | pathogenic | 8,937 |
Does the variant on chromosome 1 at location 46189940 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3'] | GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGAC... | GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGAC... | pathogenic | 8,939 |
Gene mutation in TSPAN1 at chromosome 1, position 46189943—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACC... | GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACC... | pathogenic | 8,940 |
Does the variant impacting TSPAN1 on chromosome 1, position 46189952, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCT... | TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCT... | pathogenic | 8,941 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 46190757, gene TSPAN1: what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'POMGNT1-related_disorder', 'Retinitis_pigmentosa_76'] | AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGT... | AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGT... | pathogenic | 8,956 |
Is chromosome 1, position 46190767, gene TSPAN1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentos... | TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCC... | TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCC... | pathogenic | 8,958 |
Is the chromosome 1, position 46190778 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCC... | TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCC... | pathogenic | 8,959 |
Mutation found at chromosome 1 position 46192096, gene TSPAN1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGA... | ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGA... | pathogenic | 8,965 |
Regarding the variant at chromosome 1 and position 46192366, affecting gene TSPAN1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACA... | ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACA... | pathogenic | 8,975 |
Variant at chromosome position 46192498, chromosome 1, gene TSPAN1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_ty... | ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTT... | ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTT... | pathogenic | 8,981 |
Clinically, how would you classify the variant at chromosome 1, position 46193309, gene TSPAN1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTAC... | CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTAC... | pathogenic | 8,993 |
Does the chromosome 1 mutation at position 46193334 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAA... | CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAA... | pathogenic | 8,994 |
Located at chromosome 1 position 46193587, the variant affecting gene TSPAN1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGAT... | CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGAT... | pathogenic | 8,998 |
Is the chromosome 1, position 46193607 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy'] | TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCAC... | TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCAC... | pathogenic | 9,000 |
A mutation at chromosome position 46194274 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy'] | GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTAC... | GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTAC... | pathogenic | 9,007 |
Gene TSPAN1 variant at chromosome position 46194277 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3'] | AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGG... | AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGG... | pathogenic | 9,008 |
Does the chromosome 1 mutation at position 46195866 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_ty... | CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCT... | CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCT... | pathogenic | 9,027 |
Gene TSPAN1 variant at chromosome 1, position 46195933—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAG... | ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAG... | benign | 9,029 |
Determine whether the variant at chromosome 1, position 46196041, in gene TSPAN1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCA... | GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCA... | pathogenic | 9,030 |
Assess the variant on chromosome 1, position 46196733, impacting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCC... | CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCC... | pathogenic | 9,033 |
Determine whether the variant at chromosome 1, position 46196821, in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTT... | CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTT... | pathogenic | 9,038 |
Mutation at chromosome 1, position 46196970, within POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76'] | GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCC... | GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCC... | pathogenic | 9,042 |
The mutation in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) at chromosome 1, position 46197019—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3'] | CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGC... | CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGC... | pathogenic | 9,044 |
Evaluate this variant at chromosome 1, position 46198533, gene POMGNT1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGAC... | GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGAC... | benign | 9,048 |
Evaluate this variant at chromosome 1, position 52375538, gene ORC1 (origin recognition complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Meier-Gorlin_syndrome_1'] | CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCC... | CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCC... | pathogenic | 9,215 |
Variant at chromosome position 53196971, chromosome 1, gene CPT2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATT... | TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATT... | pathogenic | 9,299 |
Evaluate the clinical significance of the mutation at chromosome 1, position 53196977 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency'] | CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCC... | CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCC... | pathogenic | 9,300 |
A genetic variant on chromosome 1, position 53197001, affects the gene CPT2. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACT... | ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACT... | pathogenic | 9,301 |
Evaluate this variant at chromosome 1, position 53197017, gene CPT2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATAT... | AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATAT... | pathogenic | 9,302 |
Is the genetic mutation found on chromosome 1 at position 53197040, within the gene CPT2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTG... | GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTG... | pathogenic | 9,303 |
Evaluate the clinical significance of the mutation at chromosome 1, position 53197050 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCA... | AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCA... | pathogenic | 9,306 |
A genetic variant at chromosome 1, position 53200774, affecting gene CPT2 (carnitine palmitoyltransferase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTC... | ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTC... | pathogenic | 9,313 |
Does the variant on chromosome 1 at location 53202342 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTT... | TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTT... | pathogenic | 9,315 |
Evaluate this variant at chromosome 1, position 53202345, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTG... | AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTG... | pathogenic | 9,316 |
Mutation at chromosome 1, position 53210022, within CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAAT... | GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAAT... | pathogenic | 9,328 |
Does the chromosome 1 mutation at position 53210300 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAG... | GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAG... | pathogenic | 9,342 |
The genetic variant at chromosome 1, position 53210342, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGA... | GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGA... | pathogenic | 9,344 |
Chromosome 1, position 53210396, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGA... | TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGA... | pathogenic | 9,346 |
The mutation in gene CPT2 (carnitine palmitoyltransferase 2) at chromosome 1, position 53210420—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGA... | TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGA... | pathogenic | 9,347 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53210521, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAA... | GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAA... | pathogenic | 9,348 |
Variant at chromosome position 53210569, chromosome 1, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATA... | GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATA... | pathogenic | 9,352 |
Evaluate if the mutation on chromosome 1 at position 53210645 in CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGA... | TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGA... | pathogenic | 9,353 |
The genetic variant at chromosome 1, position 53210661, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCT... | ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCT... | pathogenic | 9,354 |
Considering the genetic mutation at chromosome 1, position 53210695, impacting CPT2 (carnitine palmitoyltransferase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCC... | ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCC... | pathogenic | 9,355 |
Is the variant located on chromosome 1 at position 53210717, gene CPT2 (carnitine palmitoyltransferase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAA... | GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAA... | pathogenic | 9,356 |
Variant on chromosome 1, at position 53210816, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTG... | AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTG... | pathogenic | 9,361 |
Variant on chromosome 1, at position 53210894, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency'] | TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCA... | TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCA... | pathogenic | 9,363 |
A genetic alteration at chromosome 1, position 53210911, in gene CPT2 (carnitine palmitoyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATA... | TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATA... | pathogenic | 9,364 |
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53210946: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCC... | AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCC... | pathogenic | 9,366 |
Is the genetic change at chromosome 1, position 53210994, within gene CPT2 (carnitine palmitoyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGT... | CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGT... | pathogenic | 9,368 |
Determine whether the variant at chromosome 1, position 53210997, in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGG... | CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGG... | pathogenic | 9,369 |
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53211019—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency'] | AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTT... | AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTT... | pathogenic | 9,372 |
Mutation found at chromosome 1 position 53211030, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency'] | GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAG... | GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAG... | pathogenic | 9,374 |
Benign or pathogenic: chromosome 1, position 53211114, gene CPT2 (carnitine palmitoyltransferase 2) variant? Disease(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCAT... | CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCAT... | pathogenic | 9,379 |
Variant chromosome 1, position 53211119, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s)? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAA... | TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAA... | pathogenic | 9,380 |
For chromosome 1, position 53211218, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGA... | GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGA... | pathogenic | 9,388 |
Does the variant on chromosome 1 at location 53211240 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATG... | CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATG... | pathogenic | 9,390 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53211280, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTG... | CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTG... | pathogenic | 9,392 |
Determine if the mutation at chromosome 1, position 53213283 in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTC... | TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTC... | pathogenic | 9,396 |
Clinical classification of chromosome 1, position 53213384, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency'] | GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCA... | GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCA... | pathogenic | 9,400 |
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53213391: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency'] | CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGT... | CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGT... | pathogenic | 9,402 |
Does the chromosome 1 mutation at position 53213399 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGG... | TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGG... | pathogenic | 9,404 |
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53213421—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCA... | AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCA... | pathogenic | 9,405 |
Mutation found at chromosome 1 position 53213433, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGAT... | TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGAT... | pathogenic | 9,407 |
Classify the chromosome 1 variant at position 53213545 affecting gene CPT2 (carnitine palmitoyltransferase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4'] | GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTC... | GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTC... | pathogenic | 9,412 |
Evaluate this variant at chromosome 1, position 53213549, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_... | AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGA... | AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGA... | pathogenic | 9,413 |
Benign or pathogenic: chromosome 1, position 54999342, gene BSND (barttin CLCNK type accessory subunit beta) variant? Disease(s) if pathogenic? | pathogenic; ['Bartter_disease_type_4A'] | TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCG... | TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCG... | pathogenic | 9,513 |
Is the genetic variant on chromosome 1, position 55039879, gene PCSK9 (proprotein convertase subtilisin/kexin type 9), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGAC... | TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGAC... | benign | 9,552 |
Does the chromosome 1 mutation at position 55039894 within gene PCSK9 (proprotein convertase subtilisin/kexin type 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCC... | AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCC... | benign | 9,556 |
Variant at chromosome position 55039903, chromosome 1, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGC... | GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGC... | benign | 9,558 |
Evaluate this variant at chromosome 1, position 55046570, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGT... | GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGT... | benign | 9,613 |
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