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 |
|---|---|---|---|---|---|
Variant in TCTN1 (tectonic family member 1), chromosome 12, position 110645049—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'TCTN1-related_disorder'] | CTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTAATATTTTTGAATTTTTTTTTTTTTTTGTAGAGACAGGATCTCACTATGTTGCCCAGGCTGATGTTGAACTCCTGGGCTCAAGCAGTCCTCCCATCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATGTTTCATTTTTAAGGTTGTTTAGCATTTGAGTTCACAGCAAAAATATTTCCCCTGACAATATTTCCTGTGTTTCTCAATTTTAATATACACAGCACATCAAAACCAGTGAGAG... | CTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCTAATATTTTTGAATTTTTTTTTTTTTTTGTAGAGACAGGATCTCACTATGTTGCCCAGGCTGATGTTGAACTCCTGGGCTCAAGCAGTCCTCCCATCTCAGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATGTTTCATTTTTAAGGTTGTTTAGCATTTGAGTTCACAGCAAAAATATTTCCCCTGACAATATTTCCTGTGTTTCTCAATTTTAATATACACAGCACATCAAAACCAGTGAGAG... | pathogenic | 202,860 |
Is the chromosome 12, position 110647730 variant in TCTN1 (tectonic family member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AATCCTACAGATAGGTTCCCGGTCACACATGATGCTTCTGCCCACCTTTTTCTTTTGTCTTAGCAGTCAGCGTGTGGGCCGGCCCTGGCCCAGGGGCGTGCTCTCCATCTTAGCCTGTAATTGCCCAGCTTGTTCTTGTCACGCTTTCTTCAGACCTCTCATTATCCGCTCCGAATATTTCTAGCATGGGCATAACGGGGGTGAGGACTGCTCACTTCTCTGATCCGCCCTCCCACCGAGGCCAGCAGAGACCCGGGATTACTCAGTCCCTGCCGTTCCACTGCGAAGTCTTGACTCAACTCTCCCACCAGAACCAGGCA... | AATCCTACAGATAGGTTCCCGGTCACACATGATGCTTCTGCCCACCTTTTTCTTTTGTCTTAGCAGTCAGCGTGTGGGCCGGCCCTGGCCCAGGGGCGTGCTCTCCATCTTAGCCTGTAATTGCCCAGCTTGTTCTTGTCACGCTTTCTTCAGACCTCTCATTATCCGCTCCGAATATTTCTAGCATGGGCATAACGGGGGTGAGGACTGCTCACTTCTCTGATCCGCCCTCCCACCGAGGCCAGCAGAGACCCGGGATTACTCAGTCCCTGCCGTTCCACTGCGAAGTCTTGACTCAACTCTCCCACCAGAACCAGGCA... | benign | 202,868 |
The chromosome 12, position 110913199 genetic variant in gene MYL2 (myosin light chain 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGAAGGCGGCGAACATCTGGTCAACCTGCAATGAGCCAGCAACACGTGCTAAGGACGAGGGGAGGGGAACTGAGACGGAGGGTGGGGGGCTGTGGGCGGGGCCTGAGTGGACGGATAGCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTC... | GGAAGGCGGCGAACATCTGGTCAACCTGCAATGAGCCAGCAACACGTGCTAAGGACGAGGGGAGGGGAACTGAGACGGAGGGTGGGGGGCTGTGGGCGGGGCCTGAGTGGACGGATAGCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTC... | benign | 202,905 |
Is chromosome 12, position 110913225, gene MYL2 (myosin light chain 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGCAATGAGCCAGCAACACGTGCTAAGGACGAGGGGAGGGGAACTGAGACGGAGGGTGGGGGGCTGTGGGCGGGGCCTGAGTGGACGGATAGCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTCCCTCCCTGGGTAGTCAGCAGTGCCGA... | TGCAATGAGCCAGCAACACGTGCTAAGGACGAGGGGAGGGGAACTGAGACGGAGGGTGGGGGGCTGTGGGCGGGGCCTGAGTGGACGGATAGCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTCCCTCCCTGGGTAGTCAGCAGTGCCGA... | benign | 202,906 |
Classify the chromosome 12 variant at position 110914159 affecting gene MYL2 (myosin light chain 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATACAATTTTTAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTA... | ATACAATTTTTAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTA... | benign | 202,917 |
Mutation at chromosome 12, position 110914159, within MYL2 (myosin light chain 2): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATACAATTTTTAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTA... | ATACAATTTTTAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTA... | benign | 202,918 |
Does the variant impacting MYL2 (myosin light chain 2) on chromosome 12, position 110914169, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCC... | TAGTAAAATGTGGAACTTGATGGAAACAGGCCTGTGAGGCTATGAGGGGAGCATTTAAAATCGACTCATTAAGGTTCACTAATAAGGTTGACGGCACCATTGCTTGCTCATACAGAAGCTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCC... | benign | 202,919 |
Variant chromosome 12, position 110914302, gene MYL2 (myosin light chain 2): benign or pathogenic? Disease(s)? | benign | AAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTTGTTATTTTATTTTAT... | AAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTTGTTATTTTATTTTAT... | benign | 202,934 |
Evaluate this variant at chromosome 12, position 110919200, gene MYL2: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCCTCATTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACC... | TCCTCATTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACC... | benign | 202,961 |
A mutation at chromosome position 110919200 on chromosome 12 in gene MYL2: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TCCTCATTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACC... | TCCTCATTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACC... | benign | 202,962 |
A genetic alteration at chromosome 12, position 110919206, in gene MYL2—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACCTGTAAT... | TTTGTAAAACACTTGGGCATTTATAAAGTTCTGAGAATCTCCCTGACTGTCAGCTGAGATAGATTACTGGTCCCATTTTATAGATAGGGCAGGCTAGGGAGTGGAGAGGCCAGATGAGACACCAGTTTTTAGCTTTTTAAAAAATAATAGCTTTAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCGAGGCGGAGGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCGGGCCAACACAGTGAAACCCTGTCTCTAGTAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGAGTACCTGTAAT... | benign | 202,965 |
Determine whether the variant at chromosome 12, position 111308470, in gene CUX2 (cut like homeobox 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATCCAGGACAGAGGGTCCATTTCCTAAAATGTGGAGAAGCCATGGGTCTTGGGGCTATCAGCAAATTAGGCGGAGGAAAGAGCCGCCCATAACGTGGTCCGTGGCTCCAAGGTGTCAAGTCTAATCCTGAGGGTCCCTTATTGCCTAGAATGGGGACATCCCCCTGGAGTAGGAGCCAGACCTGAGAAAGAAACTCAAACTTTTACCTATGCTGTTTCCTCTGGTGCGAGCACCCAATCCCCAACCTCAGCTGACTCCTTCCTTTTGTCATGGCTATTCTTTTTTAATAAATCTTTTAATCAAAGTGTAACTTAATACAT... | ATCCAGGACAGAGGGTCCATTTCCTAAAATGTGGAGAAGCCATGGGTCTTGGGGCTATCAGCAAATTAGGCGGAGGAAAGAGCCGCCCATAACGTGGTCCGTGGCTCCAAGGTGTCAAGTCTAATCCTGAGGGTCCCTTATTGCCTAGAATGGGGACATCCCCCTGGAGTAGGAGCCAGACCTGAGAAAGAAACTCAAACTTTTACCTATGCTGTTTCCTCTGGTGCGAGCACCCAATCCCCAACCTCAGCTGACTCCTTCCTTTTGTCATGGCTATTCTTTTTTAATAAATCTTTTAATCAAAGTGTAACTTAATACAT... | benign | 202,978 |
Evaluate if the mutation on chromosome 12 at position 111447547 in SH2B3 (SH2B adaptor protein 3) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAGGAGGTGGCCAGGCCACTGGGTCATGATCCTTCCGACAGAGGTACCTGGCAGCTCTG... | TGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAGGAGGTGGCCAGGCCACTGGGTCATGATCCTTCCGACAGAGGTACCTGGCAGCTCTG... | benign | 203,013 |
Chromosome 12, position 111598978, gene ATXN2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis', 'Spinocerebellar_ataxia_type_2'] | TATATTTGAACATGTTGAATTATCTGCCAAATCTCTTCCTAATACCTAAGAAAGTAAAAACAGAATACATCCTTTTCTATAAAAGTTGTATTTTAAATTTTTTCATTTTTCGCTAGATGCCAACGAAAAAGGGAAACTGAAGTTACCCTACTTGGGGAAACGATCACTTCATCTGAACTAGTTTGGCTAAGTAGTGTTTGGGATGCTTCAGACTCAGAGAAGGGGAAGGGGGGGCGGGGCGTGTAAAGTCAAATAACCGACTGTTTCCGCCCCCTTTGAAGGCAGCAGAATTCCTTAAAAACCAGCTGATTCCTCTTGAT... | TATATTTGAACATGTTGAATTATCTGCCAAATCTCTTCCTAATACCTAAGAAAGTAAAAACAGAATACATCCTTTTCTATAAAAGTTGTATTTTAAATTTTTTCATTTTTCGCTAGATGCCAACGAAAAAGGGAAACTGAAGTTACCCTACTTGGGGAAACGATCACTTCATCTGAACTAGTTTGGCTAAGTAGTGTTTGGGATGCTTCAGACTCAGAGAAGGGGAAGGGGGGGCGGGGCGTGTAAAGTCAAATAACCGACTGTTTCCGCCCCCTTTGAAGGCAGCAGAATTCCTTAAAAACCAGCTGATTCCTCTTGAT... | pathogenic | 203,019 |
Evaluate the clinical significance of the mutation at chromosome 12, position 112450397 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Noonan_syndrome', 'Noonan_syndrome_1'] | TACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAG... | TACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTTCAGTTACCTAAATCTTTTAGTGATCTCTCTCATCTTTTTAATCAG... | pathogenic | 203,083 |
Chromosome 12, position 112453170, gene PTPN11 (protein tyrosine phosphatase non-receptor type 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTCCCAATCTCCTCTCTGACTTGGTGCAAATTCAGGATCTCTTAGTTAGTTTGTATATTTTGTGTCTTCAGGTATGATTTTTTCAGCTTATACCTTTATGTCAGTGCTATTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCC... | TTCCCAATCTCCTCTCTGACTTGGTGCAAATTCAGGATCTCTTAGTTAGTTTGTATATTTTGTGTCTTCAGGTATGATTTTTTCAGCTTATACCTTTATGTCAGTGCTATTATGTGCTGATAATTTGTTTCTCTAGCTACCACCGTAGCTTCAGGCAAAAGGCTGTCAGCCAACTCTGTACAGTTTATTTCTAAATTTTACTGTTTTCAGTTGAGTATGGATGAAGAATAACTCAAAGTTTATTCTTTTGATGATGAGCCCTTAACACCACCTGCCATGATAGTACTTGCTTTCTGACCAAGATCCTGAGGGAAAAAGCC... | benign | 203,099 |
Benign or pathogenic: chromosome 12, position 112454528, gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) variant? Disease(s) if pathogenic? | benign | CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGTCCGGCCGACTTTTATTTTTTTTTCTTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCGGTGGCATGATCATAGCGCACTGCAGCCTCGACCTCCTGGACTCAAGTGATCCTCCTGCCTCGGCCTTGTGTATAGCTGGGATTACAGGCAGTTGCCACCATGCCAGGCTAATTTTTAATTGTTTTGTGAAGATGGGGATTTCACTGTGTTGCCCAGACTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCCTGCCTTGGCCTTCCAAAGTGTTGGG... | CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGTCCGGCCGACTTTTATTTTTTTTTCTTGAGACAGGGTCTTGCTCTGTCACCCAAGCTGGAGTGCGGTGGCATGATCATAGCGCACTGCAGCCTCGACCTCCTGGACTCAAGTGATCCTCCTGCCTCGGCCTTGTGTATAGCTGGGATTACAGGCAGTTGCCACCATGCCAGGCTAATTTTTAATTGTTTTGTGAAGATGGGGATTTCACTGTGTTGCCCAGACTGGTCTTGAACTCCTGGCCTCAAGTGATCTTCCTGCCTTGGCCTTCCAAAGTGTTGGG... | benign | 203,113 |
The chromosome 12, position 112455943 genetic variant in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCTTCAACCTCTCAAAGTGTTAGGATTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGG... | CCTTCAACCTCTCAAAGTGTTAGGATTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGG... | benign | 203,126 |
Does the genetic variant at chromosome 12, position 112455967, impacting gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Metachondromatosis', 'RASopathy'] | ATTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCAC... | ATTACAGATGTGAACTACTGTGCCTGATCCAAAGTCAGATTTTCTTTGCTTACTTAGTCAAGTTCGTCTATGCTTTTATTATACTTAATATATTAGTATAGTTACTGTATTAGTATATTAGCATATTTAATATATTATTATACTTATCATACTTGAGTATATTGAGTATATTTACACTTTTAGTATATTTGTATACACACACCACATTTTTATTATTTATCTTTTTTTTGAGACAGAGTCTCCCTCTGTCTCCCAGGCTGAAGCACAGTTGGCTCACTGCAACCTCTGCCTCTTGGGCTCAAGTGATTCTCGTGCCTCAC... | pathogenic | 203,128 |
Determine if the mutation at chromosome 12, position 112472948 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Noonan_syndrome_1', 'RASopathy'] | AGCAGTATTGCTTGGTAAGACTGGCTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGAC... | AGCAGTATTGCTTGGTAAGACTGGCTCACAGTCCAAGGAAATGCTTGCCCAGAGAGGGCAAACTGCCTTAACTCCTTAACCTGAGCTCATTAAAAAAAATTCAAATGACTGATTCCTTGTCACAGTTCTACCTACATTGTTTTTATTTTTGTCCAGGTTTCAGCTAGTTAAATGCTTTTGTGATGAGCTTATGTCCAGGCTGAAGGTTGCATTTTGAAACTGAGCGTCAAATACCAATTTAAAGTCCAGACCTTTACACTTGTGAAATTCAGATAAATGAAATGGAAATAAAACAGGGCTGCTGTGTTGTGAAATATGAC... | pathogenic | 203,133 |
A mutation at chromosome position 112489005 on chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCTTTGTAGCTGTTGACTGCTTTGTAGGTATTGAGGTGGTGGGGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA... | GCTTTGTAGCTGTTGACTGCTTTGTAGGTATTGAGGTGGTGGGGGTGTGGTGGAAATAGGCCTGACTCTTGAGGATCCCTTAAGTCATTTTTGCTTGGTTCTCTTTTTCCTTCTTTTCTTCTACTCTTCTATGATTCATCTCTTTGATTGTGATTCTGTTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTCGTTTTTGAGACAGAGTCTTGTTTTGTTGCCCAGGCTAGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA... | benign | 203,216 |
A genetic alteration at chromosome 12, position 112506797, in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAAAAGTTTCAGATGAGAAAACCTGCCAAAACTTCAGCACAGAAATAGGTATTTAAATGCAAGTGCTCTATTGGTTAATTGTTTATATAATTGGCAGTATTTTTAAGCAGGCAAGCAATTTGGGAATGTTTTAGCAAAGTGTACCATAATTGAGTTTTACAAACCAGGCTCCTTTTTCCTCTCCCTGTACTTCTTTTTCCAAGATGGTTTTAGTTTAGAGTTCATTAAACATTAAAATCAAACACAGAATTAATTCTGCATGAGGCAAGGCTAGCACTTATTCCAGAGAAATGGCTGATACTGGTGGTAGAGTGCAGGTA... | GAAAAGTTTCAGATGAGAAAACCTGCCAAAACTTCAGCACAGAAATAGGTATTTAAATGCAAGTGCTCTATTGGTTAATTGTTTATATAATTGGCAGTATTTTTAAGCAGGCAAGCAATTTGGGAATGTTTTAGCAAAGTGTACCATAATTGAGTTTTACAAACCAGGCTCCTTTTTCCTCTCCCTGTACTTCTTTTTCCAAGATGGTTTTAGTTTAGAGTTCATTAAACATTAAAATCAAACACAGAATTAATTCTGCATGAGGCAAGGCTAGCACTTATTCCAGAGAAATGGCTGATACTGGTGGTAGAGTGCAGGTA... | benign | 203,264 |
Benign or pathogenic: chromosome 12, position 114355603, gene TBX5 (T-box transcription factor 5) variant? Disease(s) if pathogenic? | pathogenic; ['Aortic_valve_disease_2', 'Cardiovascular_phenotype'] | AAACGCCTGGCTCCAACAATTAATTCAGAGAAAGAGATTCTTGAAAAACCCAAACATTAGGTGTTACATATAATATGACCGATACCATTTTAAATAGGTTGGAATTCCTAAAGACTTTTCTTCTCCAGTGCCTACACAAATTCCATTAAAACAAGTAACCTCATTCCAAGGATATAAACCAGTGGATCATATATTCAGCTTCATCACACTCAAGGACAATGGATCCCAAATTCTCCTGCGATGGGCATGAGAAATCACGTGAGGTGAGAAATTCACATGCAAGACAACCTCTTCCTGTTTCCTCCAATTCCTATCCCCTC... | AAACGCCTGGCTCCAACAATTAATTCAGAGAAAGAGATTCTTGAAAAACCCAAACATTAGGTGTTACATATAATATGACCGATACCATTTTAAATAGGTTGGAATTCCTAAAGACTTTTCTTCTCCAGTGCCTACACAAATTCCATTAAAACAAGTAACCTCATTCCAAGGATATAAACCAGTGGATCATATATTCAGCTTCATCACACTCAAGGACAATGGATCCCAAATTCTCCTGCGATGGGCATGAGAAATCACGTGAGGTGAGAAATTCACATGCAAGACAACCTCTTCCTGTTTCCTCCAATTCCTATCCCCTC... | pathogenic | 203,319 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 114394792, gene TBX5 (T-box transcription factor 5): what disease(s) if pathogenic? | pathogenic; ['Aortic_valve_disease_2'] | CACCGCAAAGCTAAACACAGGTTTACAGCAGCCATTGAGGGAAACAGGTTTCAAGGAGACAGACTCAAATTGGCCTGAAATAGTTTTGCATCTTTCAGGGCATTCGACCCTCGGTTTTGCTCTTGCTGGTTCAACAGGTGGAAGGATACTCGGAAAAATCCTCCTACCCATTTAAAAAGGAATGGTGTCTTGAGGGGAATGAGTTTTCTTTCCGAGGGCAGGAAGCTCTCTCTCGACCTGGGTTCCCAGACAGGCTTTGTGGCCTGGAAAGGACTGTCTATCACAGCTTGGCCTGTTCACAGACAATCTGGATTTGGAGA... | CACCGCAAAGCTAAACACAGGTTTACAGCAGCCATTGAGGGAAACAGGTTTCAAGGAGACAGACTCAAATTGGCCTGAAATAGTTTTGCATCTTTCAGGGCATTCGACCCTCGGTTTTGCTCTTGCTGGTTCAACAGGTGGAAGGATACTCGGAAAAATCCTCCTACCCATTTAAAAAGGAATGGTGTCTTGAGGGGAATGAGTTTTCTTTCCGAGGGCAGGAAGCTCTCTCTCGACCTGGGTTCCCAGACAGGCTTTGTGGCCTGGAAAGGACTGTCTATCACAGCTTGGCCTGTTCACAGACAATCTGGATTTGGAGA... | pathogenic | 203,377 |
Does the genetic variant at chromosome 12, position 114394810, impacting gene TBX5 (T-box transcription factor 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Aortic_valve_disease_2', 'Holt-Oram_syndrome'] | AGGTTTACAGCAGCCATTGAGGGAAACAGGTTTCAAGGAGACAGACTCAAATTGGCCTGAAATAGTTTTGCATCTTTCAGGGCATTCGACCCTCGGTTTTGCTCTTGCTGGTTCAACAGGTGGAAGGATACTCGGAAAAATCCTCCTACCCATTTAAAAAGGAATGGTGTCTTGAGGGGAATGAGTTTTCTTTCCGAGGGCAGGAAGCTCTCTCTCGACCTGGGTTCCCAGACAGGCTTTGTGGCCTGGAAAGGACTGTCTATCACAGCTTGGCCTGTTCACAGACAATCTGGATTTGGAGATTAGCCACAGCATTTTGG... | AGGTTTACAGCAGCCATTGAGGGAAACAGGTTTCAAGGAGACAGACTCAAATTGGCCTGAAATAGTTTTGCATCTTTCAGGGCATTCGACCCTCGGTTTTGCTCTTGCTGGTTCAACAGGTGGAAGGATACTCGGAAAAATCCTCCTACCCATTTAAAAAGGAATGGTGTCTTGAGGGGAATGAGTTTTCTTTCCGAGGGCAGGAAGCTCTCTCTCGACCTGGGTTCCCAGACAGGCTTTGTGGCCTGGAAAGGACTGTCTATCACAGCTTGGCCTGTTCACAGACAATCTGGATTTGGAGATTAGCCACAGCATTTTGG... | pathogenic | 203,379 |
Variant chromosome 12, position 114398626, gene TBX5 (T-box transcription factor 5): benign or pathogenic? Disease(s)? | pathogenic; ['Aortic_valve_disease_2'] | CCGCAGGCATCCGCCCTAGAGAGACCCCAAAGGCACTCCAGAGGAGCAGAGAAAAAGCTAGGAGCTGAAATGAGCCTGGGGAACCGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGG... | CCGCAGGCATCCGCCCTAGAGAGACCCCAAAGGCACTCCAGAGGAGCAGAGAAAAAGCTAGGAGCTGAAATGAGCCTGGGGAACCGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGG... | pathogenic | 203,384 |
The mutation impacting TBX5 (T-box transcription factor 5) on chromosome 12 at position 114403793: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Aortic_valve_disease_2', 'Holt-Oram_syndrome'] | TTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACT... | TTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACT... | pathogenic | 203,411 |
Determine if the mutation at chromosome 12, position 114677562 in gene TBX3 (T-box transcription factor 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGGTGTTCCACCAGAAGAAAAGAAAAAGGGATCCTATTTTATGTTTAAAGCTTAAATGGATTGAAGACATAAAGGACTTGCATTTTATTTCACTAAAAAACAGGTTTCTTCCCGTTGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTTCCAAATAAATACTGCTTGCTCTTTAAACACAGGTAACTGAGGGGGGATTTGAGCCATCTTGTCCACTCCTCACCCACCTCCCCCAGCTCTACCCCCACCGCAGATCCCCAGTGCTCCACCTCCTCTCCCAGGTCAATTGTTGCTTTATAGCTGG... | GGGTGTTCCACCAGAAGAAAAGAAAAAGGGATCCTATTTTATGTTTAAAGCTTAAATGGATTGAAGACATAAAGGACTTGCATTTTATTTCACTAAAAAACAGGTTTCTTCCCGTTGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTTCCAAATAAATACTGCTTGCTCTTTAAACACAGGTAACTGAGGGGGGATTTGAGCCATCTTGTCCACTCCTCACCCACCTCCCCCAGCTCTACCCCCACCGCAGATCCCCAGTGCTCCACCTCCTCTCCCAGGTCAATTGTTGCTTTATAGCTGG... | benign | 203,453 |
The chromosome 12, position 115970670 genetic variant in gene MED13L (mediator complex subunit 13L): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome', 'MED13L-related_disorder', 'Transposition_of_the_great_arteries,_dextro-looped'] | ACCATTAAAAAACTGGGAAGCAGCAAGCAACTAGAACTAATTTTTGCTAAGAAAACAATGCATTAAAAACCCTTGCATCTGTAATAGGACTATTCTTCTGATAAAACTTATTCATCAGAAATAATAACATATTTATTTCAAATTCCTGCCTTCTATTCAAAATGGAACCATAGTCAGTTTCCCACACTTATTTCTCTTGTACCAAGGACCCAGACCATCAAGAACTGTGCAAGTAGGAACAAGATGATCAGATGTCCAGTGGATTATCTTCCTAAAGGCTATGGTTGTCTTAAACAACGTACTCCAAATCATCCTTACCC... | ACCATTAAAAAACTGGGAAGCAGCAAGCAACTAGAACTAATTTTTGCTAAGAAAACAATGCATTAAAAACCCTTGCATCTGTAATAGGACTATTCTTCTGATAAAACTTATTCATCAGAAATAATAACATATTTATTTCAAATTCCTGCCTTCTATTCAAAATGGAACCATAGTCAGTTTCCCACACTTATTTCTCTTGTACCAAGGACCCAGACCATCAAGAACTGTGCAAGTAGGAACAAGATGATCAGATGTCCAGTGGATTATCTTCCTAAAGGCTATGGTTGTCTTAAACAACGTACTCCAAATCATCCTTACCC... | pathogenic | 203,476 |
Variant in MED13L (mediator complex subunit 13L), chromosome 12, position 115972161—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome', 'Inborn_genetic_diseases'] | TATAGTTTATAAATAATCATTTTTTTAAACAAATACCTTAACAGCTATTCAAAAATTTCCATTAAGAATAATCAAATAAGGGTTTCTCTATAGCAAATTAGATTGCCATAGACTAGCTAAAGGAAGGTGCTCTCTTCATATTGCTTAGTACTTCACACATTTCAAATCACATCAGCAAATATTTATTGAAAGAGTGGCACCTAAGTACAGAACAGTGCCACGCAGGTATTATTTTTTGCCTTTAATGAAAAATGGAAGAAAGTTAATTGCCCAAACAAGGAAAATATTTATTTGGTCTTGTTAATTGTGCAGATAAATCA... | TATAGTTTATAAATAATCATTTTTTTAAACAAATACCTTAACAGCTATTCAAAAATTTCCATTAAGAATAATCAAATAAGGGTTTCTCTATAGCAAATTAGATTGCCATAGACTAGCTAAAGGAAGGTGCTCTCTTCATATTGCTTAGTACTTCACACATTTCAAATCACATCAGCAAATATTTATTGAAAGAGTGGCACCTAAGTACAGAACAGTGCCACGCAGGTATTATTTTTTGCCTTTAATGAAAAATGGAAGAAAGTTAATTGCCCAAACAAGGAAAATATTTATTTGGTCTTGTTAATTGTGCAGATAAATCA... | pathogenic | 203,482 |
Variant chromosome 12, position 115987135, gene MED13L (mediator complex subunit 13L): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome', 'Inborn_genetic_diseases'] | TCAATTACTGCCGAATAAGCAACCCTAGTGAAGTCATTAAGAAAAATTTAAAAGAGTGTCTGTCTGTACCCTCTTAAAAAGATCTGGCAGTGCTTTTTACATTTTGTAACTTATGTTGAAGGTTCCATTCAAGGAAATGGCTGGGCTTTAAAACTGCTTACACAAATTTTCTGTTAATTATGATTTAATAGTATTATATATGCCCTGACCAGACACTGTTCAGAAATGAATGTATCCAAGGCAGTGACTTAATTGATGTCATTACATCATGTTAGCATCTCCTCATTTCTTTGTAGCAACAACGTAAATTTACTATTCCG... | TCAATTACTGCCGAATAAGCAACCCTAGTGAAGTCATTAAGAAAAATTTAAAAGAGTGTCTGTCTGTACCCTCTTAAAAAGATCTGGCAGTGCTTTTTACATTTTGTAACTTATGTTGAAGGTTCCATTCAAGGAAATGGCTGGGCTTTAAAACTGCTTACACAAATTTTCTGTTAATTATGATTTAATAGTATTATATATGCCCTGACCAGACACTGTTCAGAAATGAATGTATCCAAGGCAGTGACTTAATTGATGTCATTACATCATGTTAGCATCTCCTCATTTCTTTGTAGCAACAACGTAAATTTACTATTCCG... | pathogenic | 203,523 |
Chromosome 12, position 115997094, gene MED13L (mediator complex subunit 13L): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGCTTCCTAAGTCTAGGATTCCTCTGTACTTTTCTGTCACCGTTTTTCTTTCTGACACTGACTTTATATACACAAGCAGGAAGTCTTGTTACGACATTAAAATTAACTTCATCAGGATGATTTTACAGAAGGTCACAAACTTGCAGCCCAGAGGCTGAGGCTGGACCACAAATTTGTTTTATTGGTTCCTTAAGCTCAGCACAATGGTGCTGAGCATCAGTAGTACCAACTCTTTTGCATTTACCCTGTCCATTTCATCTATATATTGCTTACCTGACCACAGCAGAAATCTGAATTTGTGGCCTTTTCTATCAATCAAA... | AGCTTCCTAAGTCTAGGATTCCTCTGTACTTTTCTGTCACCGTTTTTCTTTCTGACACTGACTTTATATACACAAGCAGGAAGTCTTGTTACGACATTAAAATTAACTTCATCAGGATGATTTTACAGAAGGTCACAAACTTGCAGCCCAGAGGCTGAGGCTGGACCACAAATTTGTTTTATTGGTTCCTTAAGCTCAGCACAATGGTGCTGAGCATCAGTAGTACCAACTCTTTTGCATTTACCCTGTCCATTTCATCTATATATTGCTTACCTGACCACAGCAGAAATCTGAATTTGTGGCCTTTTCTATCAATCAAA... | benign | 203,553 |
A genetic alteration at chromosome 12, position 116007645, in gene MED13L (mediator complex subunit 13L)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | benign | 203,576 |
Gene MED13L (mediator complex subunit 13L) variant at chromosome position 116007645 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | benign | 203,577 |
Is the variant located on chromosome 12 at position 116007645, gene MED13L (mediator complex subunit 13L), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | AACTGGAATACACTAATGAAAAAGATCCTTCAATGAACAAAACTCGAGGTGGATACACTACACTAATAACCTTTACAATCTTTTCCAAGTATACAAACTTTTTTTATACAGCATGACTAGATTCCAGTATACAGACATTTATAAAGAACATTCAGAACCTGAAATAAGAGCCCCCAAATTCAGGACACCAAACTATAAAGAAATACTACAACACTGATATAAAGTCCTTTCATGTAGCGAAATTTTTGTTTATGTAGCTACGGCAAACTCACCCCAAGTTCGTCGTCATCAGAATTATCAAAGATGTTGTCTAAGTCATG... | benign | 203,578 |
Determine whether the variant at chromosome 12, position 116008385, in gene MED13L (mediator complex subunit 13L) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGCATTTTTCCCATCAGGCACCGGCGTGGAATGACCTGGTGTAGTGACATCCTTGGTACCAAATCCATCCTCTGACTGTATAATAAATTCAGCCAAACAAAACACATGAACACCAACCCAAAGTGTGAAATATGAGGGAGAACACAAAGAATTAGAGGGTAGAATGGAACTTGTTATGAGCACAAGTATGATAAACCATGGTCTATGCAACCAAAGGAAGTAAAAGATAGGTCCTTTCTCTGGAATTTCAACAGAACCATGAGCTCCCCACTTTCCCCTCAATCCTATGGGGTATTCTGAGTGAATCAGTGTTTTATGCC... | GGCATTTTTCCCATCAGGCACCGGCGTGGAATGACCTGGTGTAGTGACATCCTTGGTACCAAATCCATCCTCTGACTGTATAATAAATTCAGCCAAACAAAACACATGAACACCAACCCAAAGTGTGAAATATGAGGGAGAACACAAAGAATTAGAGGGTAGAATGGAACTTGTTATGAGCACAAGTATGATAAACCATGGTCTATGCAACCAAAGGAAGTAAAAGATAGGTCCTTTCTCTGGAATTTCAACAGAACCATGAGCTCCCCACTTTCCCCTCAATCCTATGGGGTATTCTGAGTGAATCAGTGTTTTATGCC... | benign | 203,579 |
Is the genetic mutation found on chromosome 12 at position 116008415, within the gene MED13L (mediator complex subunit 13L), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome'] | ATGACCTGGTGTAGTGACATCCTTGGTACCAAATCCATCCTCTGACTGTATAATAAATTCAGCCAAACAAAACACATGAACACCAACCCAAAGTGTGAAATATGAGGGAGAACACAAAGAATTAGAGGGTAGAATGGAACTTGTTATGAGCACAAGTATGATAAACCATGGTCTATGCAACCAAAGGAAGTAAAAGATAGGTCCTTTCTCTGGAATTTCAACAGAACCATGAGCTCCCCACTTTCCCCTCAATCCTATGGGGTATTCTGAGTGAATCAGTGTTTTATGCCTAAGCAGTACTGGTGGCATTTGATTACAGA... | ATGACCTGGTGTAGTGACATCCTTGGTACCAAATCCATCCTCTGACTGTATAATAAATTCAGCCAAACAAAACACATGAACACCAACCCAAAGTGTGAAATATGAGGGAGAACACAAAGAATTAGAGGGTAGAATGGAACTTGTTATGAGCACAAGTATGATAAACCATGGTCTATGCAACCAAAGGAAGTAAAAGATAGGTCCTTTCTCTGGAATTTCAACAGAACCATGAGCTCCCCACTTTCCCCTCAATCCTATGGGGTATTCTGAGTGAATCAGTGTTTTATGCCTAAGCAGTACTGGTGGCATTTGATTACAGA... | pathogenic | 203,580 |
Is chromosome 12, position 116008703, gene MED13L (mediator complex subunit 13L) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome', 'Intellectual_disability'] | CCTAAGCAGTACTGGTGGCATTTGATTACAGACCTGCCATGGTGTTAAAAGCTGCCTTTAACAACATTTTAGATGCTAAATTATAGATTTGGCTTTCTGGGTCTAGGGAGATCTGTATAAAACAATCTAAAAAGCATTCCCCTAACTATACCGGCCTCTTATAATTGTTTTATTTCCTTGATTCTCAAGAATACCTATTTCAATGGCCCATATTTTAGAATGTCTGAAAATTTGAAATTAAAGACAGCAGACACAACCAGTACTCATTTTTATGATGATGAAACCAGTAAAATTAATACTGATAGTCTATGGGTAGAGTT... | CCTAAGCAGTACTGGTGGCATTTGATTACAGACCTGCCATGGTGTTAAAAGCTGCCTTTAACAACATTTTAGATGCTAAATTATAGATTTGGCTTTCTGGGTCTAGGGAGATCTGTATAAAACAATCTAAAAAGCATTCCCCTAACTATACCGGCCTCTTATAATTGTTTTATTTCCTTGATTCTCAAGAATACCTATTTCAATGGCCCATATTTTAGAATGTCTGAAAATTTGAAATTAAAGACAGCAGACACAACCAGTACTCATTTTTATGATGATGAAACCAGTAAAATTAATACTGATAGTCTATGGGTAGAGTT... | pathogenic | 203,589 |
Is the genetic mutation found on chromosome 12 at position 116015277, within the gene MED13L (mediator complex subunit 13L), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCATGGTGGCGCTTGCCTGTAGTCCCAGATACTTGGGAGGCTGAGGTGACTGCTTATCGGTAGCATATGAATTCTGAGTCAGGAATGATGGTGATGCCAAACAATCCCAGATTATCCACATGGGTGGCTGAGATAGACACCCTTGCTTACTCAGGGTTCAATGTACACAAACTTTGTTTCATGCACAAAATTGTTTTAAGACATTGTATAAAATTACCTTCAGGCTATGTGCACATGAAACATAAATGAACTTTGTGCTTAGACTTAAGTCCCATCCCCAAGATATCTCATTATGTATATGCAAATATTCCAAAATCTAA... | GCATGGTGGCGCTTGCCTGTAGTCCCAGATACTTGGGAGGCTGAGGTGACTGCTTATCGGTAGCATATGAATTCTGAGTCAGGAATGATGGTGATGCCAAACAATCCCAGATTATCCACATGGGTGGCTGAGATAGACACCCTTGCTTACTCAGGGTTCAATGTACACAAACTTTGTTTCATGCACAAAATTGTTTTAAGACATTGTATAAAATTACCTTCAGGCTATGTGCACATGAAACATAAATGAACTTTGTGCTTAGACTTAAGTCCCATCCCCAAGATATCTCATTATGTATATGCAAATATTCCAAAATCTAA... | benign | 203,606 |
Variant chromosome 12, position 116111515, gene MED13L (mediator complex subunit 13L): benign or pathogenic? Disease(s)? | benign | GAATGTAATTCATTTTCGCATTTGTTCGTATTCTTCTGAAAGGAATAAATCATGATATTAAAAAAAAACACAGTGAGCTACAATTTTAAAATATACTTTGTTCACATACCTTGTAACTTTGTATAAAAAGAATTGTGCTTAAACGTGTGTTAATTATTGCAGAGATACCAAGAGCTTTATTCTGGTACAGGATTATGGCAACAGTAAGTTTTCCACATTTTCTTGGATAGAGTTTCTGTGTACTTTGTTTCGTTTTACAGTGGGAGACAGAATTACCAAATATTTAGAATACTTAAGAGTACTCAACTCTTAAATCAATG... | GAATGTAATTCATTTTCGCATTTGTTCGTATTCTTCTGAAAGGAATAAATCATGATATTAAAAAAAAACACAGTGAGCTACAATTTTAAAATATACTTTGTTCACATACCTTGTAACTTTGTATAAAAAGAATTGTGCTTAAACGTGTGTTAATTATTGCAGAGATACCAAGAGCTTTATTCTGGTACAGGATTATGGCAACAGTAAGTTTTCCACATTTTCTTGGATAGAGTTTCTGTGTACTTTGTTTCGTTTTACAGTGGGAGACAGAATTACCAAATATTTAGAATACTTAAGAGTACTCAACTCTTAAATCAATG... | benign | 203,624 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 116237695, gene MED13L (mediator complex subunit 13L). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiac_anomalies_-_developmental_delay_-_facial_dysmorphism_syndrome'] | AATCTAAAGCAACTATCCCAAAATTTAAATGCCCTACTCCTTTTTGTTAACTCAGTAACAAAGCCCATGAAAAATAACACAATAATTTAATAAGCTATTTCTAAGAACACTGACGATTTTCTCCGTTGGCATAGATAAATAAATTTATTCTATATTATCAACTAAATAACCCTCATTAGCAGTTGGGTTTGGTTTCCTCATCATTACAAAATTATATGTACCACACTAACAAAGAGCAGACCAAAAAGCTAAAACGTAAGAGATTAATACAGAGAAACAGAAGATGACAGTCAGAAACAATCATGAAAGATAAGAAAGAC... | AATCTAAAGCAACTATCCCAAAATTTAAATGCCCTACTCCTTTTTGTTAACTCAGTAACAAAGCCCATGAAAAATAACACAATAATTTAATAAGCTATTTCTAAGAACACTGACGATTTTCTCCGTTGGCATAGATAAATAAATTTATTCTATATTATCAACTAAATAACCCTCATTAGCAGTTGGGTTTGGTTTCCTCATCATTACAAAATTATATGTACCACACTAACAAAGAGCAGACCAAAAAGCTAAAACGTAAGAGATTAATACAGAGAAACAGAAGATGACAGTCAGAAACAATCATGAAAGATAAGAAAGAC... | pathogenic | 203,627 |
Variant chromosome 12, position 116237713, gene MED13L (mediator complex subunit 13L): benign or pathogenic? Disease(s)? | benign | CAAAATTTAAATGCCCTACTCCTTTTTGTTAACTCAGTAACAAAGCCCATGAAAAATAACACAATAATTTAATAAGCTATTTCTAAGAACACTGACGATTTTCTCCGTTGGCATAGATAAATAAATTTATTCTATATTATCAACTAAATAACCCTCATTAGCAGTTGGGTTTGGTTTCCTCATCATTACAAAATTATATGTACCACACTAACAAAGAGCAGACCAAAAAGCTAAAACGTAAGAGATTAATACAGAGAAACAGAAGATGACAGTCAGAAACAATCATGAAAGATAAGAAAGACACTTTTTAAAAAGCTTTA... | CAAAATTTAAATGCCCTACTCCTTTTTGTTAACTCAGTAACAAAGCCCATGAAAAATAACACAATAATTTAATAAGCTATTTCTAAGAACACTGACGATTTTCTCCGTTGGCATAGATAAATAAATTTATTCTATATTATCAACTAAATAACCCTCATTAGCAGTTGGGTTTGGTTTCCTCATCATTACAAAATTATATGTACCACACTAACAAAGAGCAGACCAAAAAGCTAAAACGTAAGAGATTAATACAGAGAAACAGAAGATGACAGTCAGAAACAATCATGAAAGATAAGAAAGACACTTTTTAAAAAGCTTTA... | benign | 203,629 |
Does the genetic variant at chromosome 12, position 119193774, impacting gene HSPB8 (heat shock protein family B (small) member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2L', 'Myopathy,_autophagic_vacuolar,_infantile-onset', 'Myopathy,_myofibrillar,_13,_with_rimmed_vacuoles'] | GTGGAAAGATTTTGATTGAACTGCCGGTCCTTCCTGCCATAGTCCTTCTTTCAAATGTCTGGTGCTGGGGGAGGCAGGAGAGCATCATGGTCAGATACTCTGAGTTTGGAGACCAGGATTCCAATTCCATTTCCTATCTGCCATTTGCCAGCTGAGCAACCTTGGGCAAAGCAGTTCACTTCTCTGAGTCTCAATTTCCTCATCTGTAAGATGGGGATAGCAATGGAATCTGCCTGGTGGGATTATTGTTAACACCAAAATGATATGATTCAGCTAAAGTACCTGGCACATAGAAAGTACTCAGAAGGTCATGGATTTCA... | GTGGAAAGATTTTGATTGAACTGCCGGTCCTTCCTGCCATAGTCCTTCTTTCAAATGTCTGGTGCTGGGGGAGGCAGGAGAGCATCATGGTCAGATACTCTGAGTTTGGAGACCAGGATTCCAATTCCATTTCCTATCTGCCATTTGCCAGCTGAGCAACCTTGGGCAAAGCAGTTCACTTCTCTGAGTCTCAATTTCCTCATCTGTAAGATGGGGATAGCAATGGAATCTGCCTGGTGGGATTATTGTTAACACCAAAATGATATGATTCAGCTAAAGTACCTGGCACATAGAAAGTACTCAGAAGGTCATGGATTTCA... | pathogenic | 203,698 |
Is the chromosome 12, position 119193825 variant in HSPB8 (heat shock protein family B (small) member 8) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['HSPB8-related_neuromuscular_disorder', 'Myopathy,_myofibrillar,_13,_with_rimmed_vacuoles', 'Neuronopathy,_distal_hereditary_motor,_type_2A'] | CAAATGTCTGGTGCTGGGGGAGGCAGGAGAGCATCATGGTCAGATACTCTGAGTTTGGAGACCAGGATTCCAATTCCATTTCCTATCTGCCATTTGCCAGCTGAGCAACCTTGGGCAAAGCAGTTCACTTCTCTGAGTCTCAATTTCCTCATCTGTAAGATGGGGATAGCAATGGAATCTGCCTGGTGGGATTATTGTTAACACCAAAATGATATGATTCAGCTAAAGTACCTGGCACATAGAAAGTACTCAGAAGGTCATGGATTTCATGGTTAAAAAAAATAATGGCACCCCAATGAGATCACTAATATGTCCTCACA... | CAAATGTCTGGTGCTGGGGGAGGCAGGAGAGCATCATGGTCAGATACTCTGAGTTTGGAGACCAGGATTCCAATTCCATTTCCTATCTGCCATTTGCCAGCTGAGCAACCTTGGGCAAAGCAGTTCACTTCTCTGAGTCTCAATTTCCTCATCTGTAAGATGGGGATAGCAATGGAATCTGCCTGGTGGGATTATTGTTAACACCAAAATGATATGATTCAGCTAAAGTACCTGGCACATAGAAAGTACTCAGAAGGTCATGGATTTCATGGTTAAAAAAAATAATGGCACCCCAATGAGATCACTAATATGTCCTCACA... | pathogenic | 203,703 |
Evaluate if the mutation on chromosome 12 at position 119688269 in CIT (citron rho-interacting serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGACACACAATATACATTTTCAGGGCTCAAGAAGCCCATTTCTCATGGAGATCCTAAATGAAATGCCAAGACTGAAAGACCCATTTTCAGTGACCTTTCCAAATACTGTGGACCAAGAGACAAAACTTCAGCAAACATTCAATCAAATCTGCCCTGGGGACGGGAGGGGAGGGAGTACGACCCCACAGACTCCAAGCAACACATAAAACGCCACAGCAGGACATTTGCCAAAGGAGCTACCACATGGAGGTTTGTAGGCGTTTCAAACAAGAAAGCACTTAGGTTAAGACACGAGCAGGAAGGAGCTGGGATGCAGGCCA... | AGACACACAATATACATTTTCAGGGCTCAAGAAGCCCATTTCTCATGGAGATCCTAAATGAAATGCCAAGACTGAAAGACCCATTTTCAGTGACCTTTCCAAATACTGTGGACCAAGAGACAAAACTTCAGCAAACATTCAATCAAATCTGCCCTGGGGACGGGAGGGGAGGGAGTACGACCCCACAGACTCCAAGCAACACATAAAACGCCACAGCAGGACATTTGCCAAAGGAGCTACCACATGGAGGTTTGTAGGCGTTTCAAACAAGAAAGCACTTAGGTTAAGACACGAGCAGGAAGGAGCTGGGATGCAGGCCA... | benign | 203,709 |
The mutation impacting CIT (citron rho-interacting serine/threonine kinase) on chromosome 12 at position 119752249: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTTAGGTGCCTCCCTTTAAAAGCTAAGAAATGTTATCTGTCTCTCTCCACCCACCCAACTCCCAACTCCAGCAAGTCTATAAGCCTTCTTGGCATGAACTCTTATATATCAACTTCATTCCTAGCTCCATTTTTTCTTCTACAGACTTATTTTCTCTTTGCCTTTTGTTTCTTATTTTGTTCTGTTTTACTGTGTTGCATCTTTCCAAGTGGTTTTCAGTCCACTGTGAAACAAGACAGTATACACAAAGACATACTGTGGTTATTTTTTGCCAAAGCAAATTTTGGGGGCATGATGTGGCATCATTTAATGAGTGTTC... | ATTTAGGTGCCTCCCTTTAAAAGCTAAGAAATGTTATCTGTCTCTCTCCACCCACCCAACTCCCAACTCCAGCAAGTCTATAAGCCTTCTTGGCATGAACTCTTATATATCAACTTCATTCCTAGCTCCATTTTTTCTTCTACAGACTTATTTTCTCTTTGCCTTTTGTTTCTTATTTTGTTCTGTTTTACTGTGTTGCATCTTTCCAAGTGGTTTTCAGTCCACTGTGAAACAAGACAGTATACACAAAGACATACTGTGGTTATTTTTTGCCAAAGCAAATTTTGGGGGCATGATGTGGCATCATTTAATGAGTGTTC... | benign | 203,785 |
Located at chromosome 12 position 119757550, the variant affecting gene CIT (citron rho-interacting serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAATATTTGAGCAACTATTTTACATGAGACATTGTATCTTCCCTCCCAGCCTGGGTGTTCAGCTTCCAACAACCACTATCCTGAACTCCAGTTGTGTCTCTGCTGGTGCCAGCGAACCCTGCTGCTAGGCTAAAAGCCCTCGTGTCAGGAACAGGTCTGTCTTGTCGCCACTGTAGACCCAGGCTACAAATTGGCACACAGCAGACATCTGACAAATATACAGTGACTACATAAATGTAACCTTATGGCTTCAATCAACCTCAACATGTCTACAACCCAATTTGTTGTATTTTCCTCCCCAAAACCTGGCCACTCTTCCC... | AAATATTTGAGCAACTATTTTACATGAGACATTGTATCTTCCCTCCCAGCCTGGGTGTTCAGCTTCCAACAACCACTATCCTGAACTCCAGTTGTGTCTCTGCTGGTGCCAGCGAACCCTGCTGCTAGGCTAAAAGCCCTCGTGTCAGGAACAGGTCTGTCTTGTCGCCACTGTAGACCCAGGCTACAAATTGGCACACAGCAGACATCTGACAAATATACAGTGACTACATAAATGTAACCTTATGGCTTCAATCAACCTCAACATGTCTACAACCCAATTTGTTGTATTTTCCTCCCCAAAACCTGGCCACTCTTCCC... | benign | 203,788 |
Chromosome 12, position 120440443, gene COX6A1 (cytochrome c oxidase subunit 6A1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_recessive_intermediate_D'] | TCTCACCTTCTTCGTCGCGCTCCCCGGGGTGGCAGTCAGCATGCTGAATGTGTACCTGAAGTCGCACCACGGAGAGCACGAGAGACCCGAGTTCATCGCCTACCCCCATCTCCGCATCAGGACCAAGGTACGCCCTTGTACATCTCTTCAAGCGTCCGTTCTCTTTTCGTTATGTGTGCCTTAGTGCAAGTTCTTCATTCTCTGAAGGCATGGGTGCCAGGCGTGTACAGCTTGTTTATCCTCACAAACAGAAAATGTATTTTCTTCCATTTTGTGGATGGACAGCTGACACTTGGGATTACGTCTCAATTCTCTTCTTC... | TCTCACCTTCTTCGTCGCGCTCCCCGGGGTGGCAGTCAGCATGCTGAATGTGTACCTGAAGTCGCACCACGGAGAGCACGAGAGACCCGAGTTCATCGCCTACCCCCATCTCCGCATCAGGACCAAGGTACGCCCTTGTACATCTCTTCAAGCGTCCGTTCTCTTTTCGTTATGTGTGCCTTAGTGCAAGTTCTTCATTCTCTGAAGGCATGGGTGCCAGGCGTGTACAGCTTGTTTATCCTCACAAACAGAAAATGTATTTTCTTCCATTTTGTGGATGGACAGCTGACACTTGGGATTACGTCTCAATTCTCTTCTTC... | pathogenic | 203,858 |
Chromosome 12, position 120725914, gene ACADS (acyl-CoA dehydrogenase short chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | AAAGTTTACATGCATGTTTTAAAGGTAGGGTTTTTTTTTTTGAGATGGAGTTTCGCTCTTTTTTCCCAGGCTGGGATGTGATGGCATGATGGTGGCTCACTGCACCCTTCGCCTCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCATGCCACCACGCCCGGCTAATTCTGTATTTTTGGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGGCTG... | AAAGTTTACATGCATGTTTTAAAGGTAGGGTTTTTTTTTTTGAGATGGAGTTTCGCTCTTTTTTCCCAGGCTGGGATGTGATGGCATGATGGTGGCTCACTGCACCCTTCGCCTCCCGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCATGCCACCACGCCCGGCTAATTCTGTATTTTTGGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCAACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGTGGCTG... | pathogenic | 203,873 |
Gene ACADS (acyl-CoA dehydrogenase short chain) variant at chromosome position 120727100 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | CTGGGTTCTGCCCCAATCGGGAATGAGACACAGTACTGAAGTGGAACGGGGGTAGCATCTCCACCCACCTTCACAGCCTCTGGGGAAAAGAAAGCTTTCCTTGCAGCCCAACTCCAGGGGCCTAAATATTGAGCACCAACACAAGACAGGTCCTTGAGCTTCTCGGAGCGAGTCGGGGAAGCAGATAATTTCAGATGCAAAGTGCCTTGAATAAACAGAACGAAAGATAGAGAGCCAGAGGGGGAGAAACGGCTTGGTGTGGTCAGGGCAGGCATCCATGAGACCTAAACGAAGAGGGGGCATTCCAGACAAAAGGAACA... | CTGGGTTCTGCCCCAATCGGGAATGAGACACAGTACTGAAGTGGAACGGGGGTAGCATCTCCACCCACCTTCACAGCCTCTGGGGAAAAGAAAGCTTTCCTTGCAGCCCAACTCCAGGGGCCTAAATATTGAGCACCAACACAAGACAGGTCCTTGAGCTTCTCGGAGCGAGTCGGGGAAGCAGATAATTTCAGATGCAAAGTGCCTTGAATAAACAGAACGAAAGATAGAGAGCCAGAGGGGGAGAAACGGCTTGGTGTGGTCAGGGCAGGCATCCATGAGACCTAAACGAAGAGGGGGCATTCCAGACAAAAGGAACA... | pathogenic | 203,874 |
Determine if the mutation at chromosome 12, position 120736994 in gene ACADS (acyl-CoA dehydrogenase short chain) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | TTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCTTCAAATGATCCACCCATTTTGGCCTTCCAAAGTGCTGAGATTCTTTGGGAGGCTGAGGCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTC... | TTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGGCTTCAAATGATCCACCCATTTTGGCCTTCCAAAGTGCTGAGATTCTTTGGGAGGCTGAGGCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTC... | pathogenic | 203,879 |
Does the chromosome 12 mutation at position 120737080 within gene ACADS (acyl-CoA dehydrogenase short chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | GAGGCTGAGGCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTTTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAACAAACAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAA... | GAGGCTGAGGCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTTTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAACAAACAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAA... | pathogenic | 203,883 |
Variant chromosome 12, position 120737089, gene ACADS (acyl-CoA dehydrogenase short chain): benign or pathogenic? Disease(s)? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | GCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTTTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAACAAACAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAAAAAAAAAAA... | GCAGGCGCATCACTTCAGGTCAGAAGTTCGAGAACAGCCTGGCTAATGTGGTGAAACCTGGTCTCTACCAAAAATATAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTTTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAACAAACAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAAAAAAAAAAA... | pathogenic | 203,884 |
Classify the chromosome 12 variant at position 120737355 affecting gene ACADS (acyl-CoA dehydrogenase short chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | AAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAAAAAAAAAAAAAAAAAAAAAAAAACAACTTGGCAGCCACTTGATGATAGATGCTGTTCAACAGTACCTCAGCCTGGGCCAGGTGCTGGGCTCTGCCTTTCATGTGTATTATCTCAGTCAGGCCTCAGAACAGTCCTTTGAGGTGAGTACTGTTTTGGGGACGGGGAAGGTAAAACTTTTATATTCACAGGAGTATAGAAAAACAAGAATATATTAGCAAACATTCTTATTAGTTTATGTAAGTCATGGTAGTATAAGAACATGGTTGAGACTAGGT... | AAGTGCTGGGATTACAGGTGTGAGTCACTGTGCGCAGTCCTTAAAAAAAAAAAAAAAAAAAAAAAAAACAACTTGGCAGCCACTTGATGATAGATGCTGTTCAACAGTACCTCAGCCTGGGCCAGGTGCTGGGCTCTGCCTTTCATGTGTATTATCTCAGTCAGGCCTCAGAACAGTCCTTTGAGGTGAGTACTGTTTTGGGGACGGGGAAGGTAAAACTTTTATATTCACAGGAGTATAGAAAAACAAGAATATATTAGCAAACATTCTTATTAGTTTATGTAAGTCATGGTAGTATAAGAACATGGTTGAGACTAGGT... | pathogenic | 203,888 |
Evaluate this variant at chromosome 12, position 120737853, gene ACADS (acyl-CoA dehydrogenase short chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | AGAGAATTGCTTGAACCTGGGAGGAAGAGGTTGCAGTGAGCCGAGATCTGCACTACTGCACTCCAGCCTGGGCAACAGAACAATACTCTGTCACAAAATAAAATAAAATAAAATAAAATAAAATAACATGTTTGCAGGAATGAGATTGTATAAAAGGGCTCGTGAAAAGCAACGGTTCCCTCCCGTCCCCATCCCTGTCCCCGTCCCTGTCCCTGTCCCCGTCCCTGTCCCTGTCCCTGCTCTCCCAGAGATAAGTGGTTTTACTTGTTCCTTTTTGAAGTTAGGTAGATTCTGTGGTCCACATTTCCCATATTACTCAC... | AGAGAATTGCTTGAACCTGGGAGGAAGAGGTTGCAGTGAGCCGAGATCTGCACTACTGCACTCCAGCCTGGGCAACAGAACAATACTCTGTCACAAAATAAAATAAAATAAAATAAAATAAAATAACATGTTTGCAGGAATGAGATTGTATAAAAGGGCTCGTGAAAAGCAACGGTTCCCTCCCGTCCCCATCCCTGTCCCCGTCCCTGTCCCTGTCCCCGTCCCTGTCCCTGTCCCTGCTCTCCCAGAGATAAGTGGTTTTACTTGTTCCTTTTTGAAGTTAGGTAGATTCTGTGGTCCACATTTCCCATATTACTCAC... | pathogenic | 203,897 |
Is the genetic variant on chromosome 12, position 120738335, gene ACADS (acyl-CoA dehydrogenase short chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ACADS-related_disorder', 'Deficiency_of_butyryl-CoA_dehydrogenase'] | TAATATGATTATTACCCAGAATTAAGAGTCCCAAGCTCTTATCCTTCATTCATTCTCTCACTGGCCTTGGGCATGTAGCAGTGAGCAAGAGCACACACAGTCTGTGCCCTCGTGGTGAAGGCAAAAGACCTTAATCCAGAGAAGCACGTTCATCCCTGAGAAATTCCAGCCGCAGAAGTGCTGCAGGAGAGGGACTGAAGGATTTGACTCAGCGAGGCTGGGGATGGCAGCCCAAAGCAGCGAGGCCTGAGCTGCGATCAGAAGGAGAGGAGGGGCAATAACCAGCTGAGGGATAGGAGGTGGCATGTGCAGAGGCCCTG... | TAATATGATTATTACCCAGAATTAAGAGTCCCAAGCTCTTATCCTTCATTCATTCTCTCACTGGCCTTGGGCATGTAGCAGTGAGCAAGAGCACACACAGTCTGTGCCCTCGTGGTGAAGGCAAAAGACCTTAATCCAGAGAAGCACGTTCATCCCTGAGAAATTCCAGCCGCAGAAGTGCTGCAGGAGAGGGACTGAAGGATTTGACTCAGCGAGGCTGGGGATGGCAGCCCAAAGCAGCGAGGCCTGAGCTGCGATCAGAAGGAGAGGAGGGGCAATAACCAGCTGAGGGATAGGAGGTGGCATGTGCAGAGGCCCTG... | pathogenic | 203,908 |
Gene ACADS (acyl-CoA dehydrogenase short chain) variant at chromosome 12, position 120738643—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | GCAGAGGCCCTGTGGTGGGGAGGGTGCGTGTGTGTGGATGTGCAGAGGGGGCTGGACGAAGGTCAGTGTGGCTCACGCTGTCCTGCTCCTTACCTCTGAGTTCCCTGAAAGCATCCTGTGCCTTCTGCTTGCTCGCTGCCGTGGCTGTGGACGGAGCGGGGAGCAGGCGTGGAGGCGGGGGCAGGACAGCTTGAATGAGAAGTGCCATCATATAGACCTCAGTGGGACTGGGTCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAG... | GCAGAGGCCCTGTGGTGGGGAGGGTGCGTGTGTGTGGATGTGCAGAGGGGGCTGGACGAAGGTCAGTGTGGCTCACGCTGTCCTGCTCCTTACCTCTGAGTTCCCTGAAAGCATCCTGTGCCTTCTGCTTGCTCGCTGCCGTGGCTGTGGACGGAGCGGGGAGCAGGCGTGGAGGCGGGGGCAGGACAGCTTGAATGAGAAGTGCCATCATATAGACCTCAGTGGGACTGGGTCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAG... | pathogenic | 203,914 |
Classify the chromosome 12 variant at position 120738874 affecting gene ACADS (acyl-CoA dehydrogenase short chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['ACADS-related_disorder', 'Deficiency_of_butyryl-CoA_dehydrogenase'] | GTCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAGGGTTTGGGCTTGGGGAGGGTGGGCTCGCCCCCGGCAGCTGCCCATGGCGTGCCGTCCTTCCCTGTGCCCAGGTGAAGAAGATGGGCGGGCTTGGGCTTCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACGTGAGCCCCC... | GTCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAGGGTTTGGGCTTGGGGAGGGTGGGCTCGCCCCCGGCAGCTGCCCATGGCGTGCCGTCCTTCCCTGTGCCCAGGTGAAGAAGATGGGCGGGCTTGGGCTTCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACGTGAGCCCCC... | pathogenic | 203,918 |
Is the genetic variant on chromosome 12, position 120738875, gene ACADS (acyl-CoA dehydrogenase short chain), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | TCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAGGGTTTGGGCTTGGGGAGGGTGGGCTCGCCCCCGGCAGCTGCCCATGGCGTGCCGTCCTTCCCTGTGCCCAGGTGAAGAAGATGGGCGGGCTTGGGCTTCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACGTGAGCCCCCT... | TCTTCAGCTTCTGGACTTGGGGATCCCTTGTGCGTGGCTGGGGTCACATGGCCTGAGTTTCTGCAGGGCACTGCCTCGGGGGCAGGAGGGTTTGGGCTTGGGGAGGGTGGGCTCGCCCCCGGCAGCTGCCCATGGCGTGCCGTCCTTCCCTGTGCCCAGGTGAAGAAGATGGGCGGGCTTGGGCTTCTGGCCATGGACGTGCCCGAGGAGCTTGGCGGTGCTGGCCTCGATTACCTGGCCTACGCCATCGCCATGGAGGAGATCAGCCGTGGCTGCGCCTCCACCGGAGTCATCATGAGTGTCAACAACGTGAGCCCCCT... | pathogenic | 203,919 |
Is the genetic mutation found on chromosome 12 at position 120739372, within the gene ACADS (acyl-CoA dehydrogenase short chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Deficiency_of_butyryl-CoA_dehydrogenase'] | GGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGGTGAGCGCTCTTGCCACCGCGGCGCTGGGAGGAAGATTGCCTTCGGGGTCCC... | GGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGGTGAGCGCTCTTGCCACCGCGGCGCTGGGAGGAAGATTGCCTTCGGGGTCCC... | pathogenic | 203,931 |
Considering the variant on chromosome 12, location 120978597, involving gene HNF1A (HNF1 homeobox A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TTCACTTAGCATCATGTTTTCAAGGCTCATGCATGTTGTGGCATGTACTGGAACTCCATTCCTTTATATGACCAAATAATATACCATTGCATTGGCTGGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGAGGGCATCACCTAAGGTCAGGAGTTCGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTG... | TTCACTTAGCATCATGTTTTCAAGGCTCATGCATGTTGTGGCATGTACTGGAACTCCATTCCTTTATATGACCAAATAATATACCATTGCATTGGCTGGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGAGGGCATCACCTAAGGTCAGGAGTTCGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTG... | benign | 203,944 |
Benign or pathogenic: chromosome 12, position 120978705, gene HNF1A (HNF1 homeobox A) variant? Disease(s) if pathogenic? | pathogenic; ['Diabetes_mellitus_type_1', 'Hepatic_adenomas,_familial', 'Maturity-onset_diabetes_of_the_young_type_3', 'Nonpapillary_renal_cell_carcinoma', 'Type_1_diabetes_mellitus_20', 'Type_2_diabetes_mellitus'] | CTCATGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGAGGGCATCACCTAAGGTCAGGAGTTCGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGG... | CTCATGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGAGGGCATCACCTAAGGTCAGGAGTTCGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGG... | pathogenic | 203,945 |
The mutation impacting HNF1A (HNF1 homeobox A) on chromosome 12 at position 120978770: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGC... | GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGC... | pathogenic | 203,951 |
A genetic variant at chromosome 12, position 120978787, affecting gene HNF1A (HNF1 homeobox A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Monogenic_diabetes', 'likely other unspecified diseases'] | CATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTG... | CATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTG... | pathogenic | 203,954 |
The mutation impacting HNF1A (HNF1 homeobox A) on chromosome 12 at position 120978810: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | AAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTT... | AAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTT... | pathogenic | 203,961 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 120978834, gene HNF1A (HNF1 homeobox A). What disease(s) is it linked to if pathogenic? | pathogenic; ['Monogenic_diabetes'] | TGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAAT... | TGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAAT... | pathogenic | 203,967 |
Mutation at chromosome 12, position 120978836, within HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Monogenic_diabetes'] | GTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTC... | GTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTC... | pathogenic | 203,968 |
Located at chromosome 12 position 120978893, the variant affecting gene HNF1A (HNF1 homeobox A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | ACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTA... | ACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTA... | pathogenic | 203,976 |
Does the variant on chromosome 12 at location 120978897 affecting gene HNF1A (HNF1 homeobox A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Monogenic_diabetes'] | GGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTT... | GGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTT... | pathogenic | 203,978 |
Variant chromosome 12, position 120978905, gene HNF1A (HNF1 homeobox A): benign or pathogenic? Disease(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes', 'Type_1_diabetes_mellitus_20'] | GAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTG... | GAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTG... | pathogenic | 203,980 |
Evaluate the clinical significance of the mutation at chromosome 12, position 120978923 in gene HNF1A (HNF1 homeobox A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCT... | GATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCT... | benign | 203,986 |
For chromosome 12, position 120978928, gene HNF1A (HNF1 homeobox A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Monogenic_diabetes'] | CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAA... | CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAA... | pathogenic | 203,989 |
Gene HNF1A (HNF1 homeobox A) variant at chromosome position 120978936 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | CACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACC... | CACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACC... | pathogenic | 203,990 |
A genetic alteration at chromosome 12, position 120978951, in gene HNF1A (HNF1 homeobox A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Monogenic_diabetes'] | AACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCAT... | AACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCAT... | pathogenic | 203,991 |
Does the genetic variant at chromosome 12, position 120978953, impacting gene HNF1A (HNF1 homeobox A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Monogenic_diabetes'] | CAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGG... | CAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGG... | pathogenic | 203,993 |
Considering the genetic mutation at chromosome 12, position 120978959, impacting HNF1A (HNF1 homeobox A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | GAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGC... | GAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGC... | pathogenic | 203,994 |
Is chromosome 12, position 120978970, gene HNF1A (HNF1 homeobox A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Monogenic_diabetes'] | CTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAAT... | CTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAAT... | pathogenic | 203,995 |
Does the chromosome 12 mutation at position 120979049 within gene HNF1A (HNF1 homeobox A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Monogenic_diabetes'] | TCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGAC... | TCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGAC... | pathogenic | 204,005 |
Determine whether the variant at chromosome 12, position 120979079, in gene HNF1A (HNF1 homeobox A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | CACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGG... | CACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGG... | pathogenic | 204,008 |
Evaluate the clinical significance of the mutation at chromosome 12, position 120979099 in gene HNF1A (HNF1 homeobox A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACAC... | TAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAATTTGCACCTGGGCTGCCAGGCATGGTGGCGCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGCGGATGGCTTGAGTCCAGGAGTTTGAGACCAACCTGGGCAGCATGGCAAGACCCTGTCTCCACAAAAAATACACACACAAGGCCGGGCACAGTGGCTCACAC... | benign | 204,017 |
Variant chromosome 12, position 120988829, gene HNF1A (HNF1 homeobox A): benign or pathogenic? Disease(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | TTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAG... | TTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAG... | pathogenic | 204,025 |
Is the variant located on chromosome 12 at position 120988847, gene HNF1A (HNF1 homeobox A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Monogenic_diabetes'] | GGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTC... | GGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTC... | pathogenic | 204,032 |
Is chromosome 12, position 120988867, gene HNF1A (HNF1 homeobox A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Monogenic_diabetes'] | CCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTAT... | CCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTAT... | pathogenic | 204,040 |
Considering the genetic mutation at chromosome 12, position 120988874, impacting HNF1A (HNF1 homeobox A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['HNF1A-related_disorder', 'Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | AGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCT... | AGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCT... | pathogenic | 204,043 |
The chromosome 12, position 120988882 genetic variant in gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Monogenic_diabetes'] | CCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGT... | CCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGT... | pathogenic | 204,045 |
Regarding the variant found on chromosome 12 at position 120988903 in gene HNF1A (HNF1 homeobox A): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Monogenic_diabetes'] | CTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTC... | CTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTC... | pathogenic | 204,055 |
Classify the chromosome 12 variant at position 120988909 affecting gene HNF1A (HNF1 homeobox A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Monogenic_diabetes'] | TTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGA... | TTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGA... | pathogenic | 204,056 |
Is the variant located on chromosome 12 at position 120988930, gene HNF1A (HNF1 homeobox A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Monogenic_diabetes'] | CCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCG... | CCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCG... | pathogenic | 204,060 |
Clinically, how would you classify the variant at chromosome 12, position 120989002, gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Monogenic_diabetes'] | GAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAG... | GAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAG... | pathogenic | 204,074 |
For chromosome 12, position 120989019, gene HNF1A (HNF1 homeobox A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | AGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACAC... | AGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACAC... | pathogenic | 204,081 |
Variant in HNF1A (HNF1 homeobox A), chromosome 12, position 120989032—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | GGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT... | GGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT... | pathogenic | 204,086 |
Is the genetic change at chromosome 12, position 120989033, within gene HNF1A (HNF1 homeobox A) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Monogenic_diabetes'] | GCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC... | GCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC... | pathogenic | 204,090 |
The genetic variant at chromosome 12, position 120993568, affecting gene HNF1A (HNF1 homeobox A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTG... | GGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTG... | pathogenic | 204,099 |
A genetic variant on chromosome 12, position 120993654, affects the gene HNF1A (HNF1 homeobox A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | ATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGA... | ATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGA... | pathogenic | 204,113 |
Variant chromosome 12, position 120993667, gene HNF1A (HNF1 homeobox A): benign or pathogenic? Disease(s)? | pathogenic; ['Monogenic_diabetes'] | TGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGG... | TGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGG... | pathogenic | 204,115 |
Variant in gene HNF1A (HNF1 homeobox A), located at chromosome 12 position 120993673: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Monogenic_diabetes'] | TATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCA... | TATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCA... | pathogenic | 204,117 |
Evaluate this variant at chromosome 12, position 120993678, gene HNF1A (HNF1 homeobox A): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Monogenic_diabetes'] | TGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTA... | TGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTA... | pathogenic | 204,121 |
The mutation impacting HNF1A (HNF1 homeobox A) on chromosome 12 at position 120993686: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAG... | TGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAG... | pathogenic | 204,124 |
Does the genetic variant at chromosome 12, position 120993688, impacting gene HNF1A (HNF1 homeobox A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Monogenic_diabetes'] | TATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAA... | TATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAGAGCTGAGAA... | pathogenic | 204,127 |
Determine whether the variant at chromosome 12, position 120994169, in gene HNF1A (HNF1 homeobox A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | AGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGC... | AGGGAATGAATTGACTGAAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGC... | pathogenic | 204,137 |
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