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 classification of chromosome 6, position 131882334, gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GTGCGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTCTCTT... | GTGCGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTCTCTT... | benign | 112,819 |
Mutation at chromosome 6, position 131882431, within ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arterial_calcification,_generalized,_of_infancy,_1', 'Hypophosphatemic_rickets,_autosomal_recessive,_2'] | GAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTCTCTTTTCCTCCCCGACCCCAGTTTTAATATTTTATGATTCCAATTTATAATTGCATGAAATCAGCCTTAGGATCAGTCACAGTTACCCATTTCTAAATACA... | GAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTCTCTTTTCCTCCCCGACCCCAGTTTTAATATTTTATGATTCCAATTTATAATTGCATGAAATCAGCCTTAGGATCAGTCACAGTTACCCATTTCTAAATACA... | pathogenic | 112,823 |
Evaluate if the mutation on chromosome 6 at position 133462487 in EYA4 (EYA transcriptional coactivator and phosphatase 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTATTTTGTATTGTATTTGAATTAGAACAGATATGGAGGAAGAGCAATATGTATATATTGCCATCATATTTGGTATTTTAAA... | TTCACCTTTAAGTTCTTCTCAGAAAAGTATTATCTCTAATAGTTCAAAGTATATTTGTAAATGTAATTGCTACTGCATTTTGTGATTATGTTTTAAAGAAATCACCTGCACTTTCTTTAATTATTACTGGAATATTTTAGACTGCATTTTTTAATTGTTCATCTGATGGGTAAAATGAGAGGAAATAGAATAAAATAGTATTTTACCATTAGAAAATGAAGTTTGGAACATCACAGTCTTATTTTGTATTGTATTTGAATTAGAACAGATATGGAGGAAGAGCAATATGTATATATTGCCATCATATTTGGTATTTTAAA... | benign | 112,868 |
Classify the chromosome 6 variant at position 133506152 affecting gene EYA4 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Dilated_cardiomyopathy_1J', 'EYA4-related_disorder'] | AACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGGTCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGAACACAGGCGTGAGCCACTGTGCCTGGCCTACTTATTAATAATTTTATTCTTGTTTTTAATGAATATTTGTTGGCTAAAACAGAACTGATTTGATCTTTGGGTATATAGTCCCAAATGGTTCTGTCACTGGAAGACGGATGAATCCGGCAGCACAGTCAAGCTACCGGATGACATAATACCAGGAGGCCATCAGATATGTGAAGAGTCAGCATCCATTACTGAGAAATGAGAATC... | AACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGGTCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGAACACAGGCGTGAGCCACTGTGCCTGGCCTACTTATTAATAATTTTATTCTTGTTTTTAATGAATATTTGTTGGCTAAAACAGAACTGATTTGATCTTTGGGTATATAGTCCCAAATGGTTCTGTCACTGGAAGACGGATGAATCCGGCAGCACAGTCAAGCTACCGGATGACATAATACCAGGAGGCCATCAGATATGTGAAGAGTCAGCATCCATTACTGAGAAATGAGAATC... | pathogenic | 112,906 |
The mutation impacting AHI1 (Abelson helper integration site 1) on chromosome 6 at position 135300484: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTTACAAACTCAAAGGCAGGGCTGCAAAGAAACAAAAAATTAGCCTCTGTCCATTTACTTGGGTACAAGAAACTCATTTAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGAC... | AGTTACAAACTCAAAGGCAGGGCTGCAAAGAAACAAAAAATTAGCCTCTGTCCATTTACTTGGGTACAAGAAACTCATTTAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGAC... | benign | 112,967 |
Considering the genetic mutation at chromosome 6, position 135300510, impacting AHI1 (Abelson helper integration site 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AAAGAAACAAAAAATTAGCCTCTGTCCATTTACTTGGGTACAAGAAACTCATTTAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGACATCCTTTAGAAGCTGAGATGTTTGTG... | AAAGAAACAAAAAATTAGCCTCTGTCCATTTACTTGGGTACAAGAAACTCATTTAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGACATCCTTTAGAAGCTGAGATGTTTGTG... | pathogenic | 112,968 |
Is chromosome 6, position 135300563, gene AHI1 (Abelson helper integration site 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGACATCCTTTAGAAGCTGAGATGTTTGTGAGGTTTTATTGAACTTTAATCTGGAGGGCATGACATGGATCTCTGTATCTCGT... | TAGGTAAATCAAAGAAATGACTTCTTTGTACATGCTGGGCTCTAGTGTTTCCACCATCAACTCGCCTACAGTTTTCAAGTCATGAGAAATCTATCTTAATTCATCCTTACTTCTAAGAAATTGTAAGTAGGGAAAGTCCAAAAGCTTTAGATGAACTTGGGCATTTAGACATATCTGAACTTCTCATGAAAATTTTTATTTTCAGAAGCATCTTCAAAAAGAGAAGCTGAGCTATACTGACATCCTTTAGAAGCTGAGATGTTTGTGAGGTTTTATTGAACTTTAATCTGGAGGGCATGACATGGATCTCTGTATCTCGT... | benign | 112,970 |
Variant in gene AHI1 (Abelson helper integration site 1), located at chromosome 6 position 135323244: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AAGGCTTTAGTGAGCCGTGACTGCATCACTGCACTCTAGCCTGGGTGACAAAGTGAGGCCCCGTCTCAGAAAAAAAAGAAAGAAAGAAAAAAAAAGTTATATGTCATTCACTACTTACAAGAAGGTAACTAAAACAGCTACACAGAAGACATTAAGAATTTTATGAGAGTGAGAAGTGGTACAATTTTTGAGACACATAGAACTTTTTAGGGGAGGAGTCTGCTGACTGTGGCAGATAAACTGAAGAAGGGAGCTGCAATGGGACTTAGGGCACTTGAGAGACTGGGGAGGGGAGCAATGGGAAGGACCTGGCTGAAGAC... | AAGGCTTTAGTGAGCCGTGACTGCATCACTGCACTCTAGCCTGGGTGACAAAGTGAGGCCCCGTCTCAGAAAAAAAAGAAAGAAAGAAAAAAAAAGTTATATGTCATTCACTACTTACAAGAAGGTAACTAAAACAGCTACACAGAAGACATTAAGAATTTTATGAGAGTGAGAAGTGGTACAATTTTTGAGACACATAGAACTTTTTAGGGGAGGAGTCTGCTGACTGTGGCAGATAAACTGAAGAAGGGAGCTGCAATGGGACTTAGGGCACTTGAGAGACTGGGGAGGGGAGCAATGGGAAGGACCTGGCTGAAGAC... | pathogenic | 112,979 |
Clinical classification of chromosome 6, position 135358205, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TGGCCCACTCCCTTTCTGTTTTTTTCTCAGGCTCTAACAGATACTTAAATCATGGTATCTCTTCTTTTTTTGGGTCAGTAGAATACAAAATTTGGGGCTACAAATATTCCACTTTGATAATTTTTAGACTCCTTTTTTTCCTCCCTAAACATTTTCTTCTCCTAAGCCCTTTAAAGAAAATAAGAGAAGATAGGTTCAAGGATGGAAATTAGATAAAATTACATTTCTGTGAAAATCAGACTTTACTTGTCCTGGTCTGGGACCAGAGGGCACTGGGCAATAATAATGAACAGACTTATGATTCTATTTAGAGGTTATGG... | TGGCCCACTCCCTTTCTGTTTTTTTCTCAGGCTCTAACAGATACTTAAATCATGGTATCTCTTCTTTTTTTGGGTCAGTAGAATACAAAATTTGGGGCTACAAATATTCCACTTTGATAATTTTTAGACTCCTTTTTTTCCTCCCTAAACATTTTCTTCTCCTAAGCCCTTTAAAGAAAATAAGAGAAGATAGGTTCAAGGATGGAAATTAGATAAAATTACATTTCTGTGAAAATCAGACTTTACTTGTCCTGGTCTGGGACCAGAGGGCACTGGGCAATAATAATGAACAGACTTATGATTCTATTTAGAGGTTATGG... | benign | 112,986 |
Does the variant impacting AHI1 (Abelson helper integration site 1) on chromosome 6, position 135394825, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AGGGATGAGAAAACTCTGGCCTGAAGAAACTGCTCAAGATTCCATGTTTAGAAATAGAGTTAGGTCTGAAAACTAGCTCACCTGGTTCCTAAGGCAGGATTTTTTTTCATAAACACTGGCTTCTTAATAAAAGAGATTAATTTGGCCATTTTGAGATGGACCACATATTATGCTTTTGAAATTTTTCTGTTCAGTGATATCTCAATGACATTTCTAAGAAAGATACGCCTTAAAATGAGGTTAGACATATTAGTAACCAAATGGCTTAATGGTCATGCTTCTGAGATAGTATGTGCAGGGATATAAATATCCCTCTTATG... | AGGGATGAGAAAACTCTGGCCTGAAGAAACTGCTCAAGATTCCATGTTTAGAAATAGAGTTAGGTCTGAAAACTAGCTCACCTGGTTCCTAAGGCAGGATTTTTTTTCATAAACACTGGCTTCTTAATAAAAGAGATTAATTTGGCCATTTTGAGATGGACCACATATTATGCTTTTGAAATTTTTCTGTTCAGTGATATCTCAATGACATTTCTAAGAAAGATACGCCTTAAAATGAGGTTAGACATATTAGTAACCAAATGGCTTAATGGTCATGCTTCTGAGATAGTATGTGCAGGGATATAAATATCCCTCTTATG... | pathogenic | 112,990 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 135411341, gene AHI1 (Abelson helper integration site 1). What disease(s) is it linked to if pathogenic? | benign | ATTTAAAATTCTATGTCAATAATCTATTAATATTTTGGGAGAGGATCTTCCACTGCTTTTAAAATTAGTATGTTTTCATTCATTTGAGAAATAATTGCAAGTGTATTTCCCTAGTTTTTAAAAAGATCTGGATTTTCATATTTAACTCCTTGGTAAATGAGAATTTGATTTAGGTGAGTGACCTAAGATATATATGTAAATGGACTGTATTTTTCAGTTAACTCATAGTTAACAAGGTTTCCCAACACCATACAAGGGAACAATTCTTCCTTTCCCCACTGATTTATCTTTCTATCTTAGTGAATTTCAATTATACTACT... | ATTTAAAATTCTATGTCAATAATCTATTAATATTTTGGGAGAGGATCTTCCACTGCTTTTAAAATTAGTATGTTTTCATTCATTTGAGAAATAATTGCAAGTGTATTTCCCTAGTTTTTAAAAAGATCTGGATTTTCATATTTAACTCCTTGGTAAATGAGAATTTGATTTAGGTGAGTGACCTAAGATATATATGTAAATGGACTGTATTTTTCAGTTAACTCATAGTTAACAAGGTTTCCCAACACCATACAAGGGAACAATTCTTCCTTTCCCCACTGATTTATCTTTCTATCTTAGTGAATTTCAATTATACTACT... | benign | 113,003 |
Gene AHI1 (Abelson helper integration site 1) variant at chromosome position 135427188 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1'] | TTTAATTTGTTTGTAAAGGTGTGTTTGCATATCAAAAATTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAAT... | TTTAATTTGTTTGTAAAGGTGTGTTTGCATATCAAAAATTGTGTTTGTGATATATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAAT... | pathogenic | 113,010 |
Variant at chromosome position 135427241, chromosome 6, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | ATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTA... | ATTGCACAAATAATTTAAATTTAATGTGTCTACTATTTGAATATTTAGATTTCTAAAATGCTCATGGAAATCCTTCCTCTTGCACATTAAGATAGTGTGGAAATAACATTATGTTTTTAATTTTATGCATTTATATTCTAATAAATTGACCTGGAAAGAAACATACTTTAATAAATAAAAGACTGACCAACAGAGTAAAAGAGAGGAGAAAAAACTCTTCAACTGCTTTCCATATAGAGATGCTTATTAGCATATTAAAACAGAAATTCTTACATATAGTCAAGCATATATTGGTTGGATGGGCATAACAACCCATTTTA... | pathogenic | 113,012 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 135428618, gene AHI1 (Abelson helper integration site 1). What disease(s) is it linked to if pathogenic? | benign | AGCACTAATAGTATAATATAGAAGAGTGGAATCCTAATTTCAGGATAGAAATTAAAGAAATATATGAAAACCAGCATATATCCAAAGAATTCTTAGAATACCATACTGTCCCTGAAAAATAATGTATCCACACTTTTTATTTCCTTATTATTTCTCAGAATGATAGAATAGTGTAATTGCGGACACGAAAGACATTAGATTTCTAATTCCAGGTGATGTTTTCACTGATGTGATTTTCCCCCTACTTTTTATGTTAAGAAACTCTCAAAACTACAATTTATTAAAACTATGTGCTTTAGTAACAACACAGGATAAAATAT... | AGCACTAATAGTATAATATAGAAGAGTGGAATCCTAATTTCAGGATAGAAATTAAAGAAATATATGAAAACCAGCATATATCCAAAGAATTCTTAGAATACCATACTGTCCCTGAAAAATAATGTATCCACACTTTTTATTTCCTTATTATTTCTCAGAATGATAGAATAGTGTAATTGCGGACACGAAAGACATTAGATTTCTAATTCCAGGTGATGTTTTCACTGATGTGATTTTCCCCCTACTTTTTATGTTAAGAAACTCTCAAAACTACAATTTATTAAAACTATGTGCTTTAGTAACAACACAGGATAAAATAT... | benign | 113,019 |
Variant chromosome 6, position 135429984, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease(s)? | pathogenic; ['Joubert_syndrome_3', 'Joubert_syndrome_and_related_disorders'] | AAACAAACAATCAAACAAAAACCTAAGTTACCTGACTAGTCAAAATGCCTAACAGAAAGAATAAAAAAAAAACAAGGAAAAAATCAAATACTGTTCATTAAAGAAATTTTAAAGTTAGTTTTATGAAACTCTCTCAATTTCTTATTAAAAACATTCATGTAGCTTTAGCTTTTCTTTTGAAAAGCAAAGGTGAGGCACAAGTGAGCTTCCCAATGTAATTGTTTATTGGAAAAAAACTGAACTGCAGTATTTCAGGCAACTTGCTATTTAAGTTTCAGACATCAAAACTTTCACAGGTATGTTTCCGTTACTAATGAAAA... | AAACAAACAATCAAACAAAAACCTAAGTTACCTGACTAGTCAAAATGCCTAACAGAAAGAATAAAAAAAAAACAAGGAAAAAATCAAATACTGTTCATTAAAGAAATTTTAAAGTTAGTTTTATGAAACTCTCTCAATTTCTTATTAAAAACATTCATGTAGCTTTAGCTTTTCTTTTGAAAAGCAAAGGTGAGGCACAAGTGAGCTTCCCAATGTAATTGTTTATTGGAAAAAAACTGAACTGCAGTATTTCAGGCAACTTGCTATTTAAGTTTCAGACATCAAAACTTTCACAGGTATGTTTCCGTTACTAATGAAAA... | pathogenic | 113,030 |
Variant at chromosome 6, position 135430011, gene AHI1 (Abelson helper integration site 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTACCTGACTAGTCAAAATGCCTAACAGAAAGAATAAAAAAAAAACAAGGAAAAAATCAAATACTGTTCATTAAAGAAATTTTAAAGTTAGTTTTATGAAACTCTCTCAATTTCTTATTAAAAACATTCATGTAGCTTTAGCTTTTCTTTTGAAAAGCAAAGGTGAGGCACAAGTGAGCTTCCCAATGTAATTGTTTATTGGAAAAAAACTGAACTGCAGTATTTCAGGCAACTTGCTATTTAAGTTTCAGACATCAAAACTTTCACAGGTATGTTTCCGTTACTAATGAAAATATAGATGTTTAACAATTTGTCTACCT... | TTACCTGACTAGTCAAAATGCCTAACAGAAAGAATAAAAAAAAAACAAGGAAAAAATCAAATACTGTTCATTAAAGAAATTTTAAAGTTAGTTTTATGAAACTCTCTCAATTTCTTATTAAAAACATTCATGTAGCTTTAGCTTTTCTTTTGAAAAGCAAAGGTGAGGCACAAGTGAGCTTCCCAATGTAATTGTTTATTGGAAAAAAACTGAACTGCAGTATTTCAGGCAACTTGCTATTTAAGTTTCAGACATCAAAACTTTCACAGGTATGTTTCCGTTACTAATGAAAATATAGATGTTTAACAATTTGTCTACCT... | benign | 113,031 |
Clinical classification of chromosome 6, position 135433041, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Retinal_dystrophy'] | TTAACACCTGGCCAAAATTTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATG... | TTAACACCTGGCCAAAATTTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATG... | pathogenic | 113,035 |
Chromosome 6, position 135433045, gene AHI1 (Abelson helper integration site 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | CACCTGGCCAAAATTTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCT... | CACCTGGCCAAAATTTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCT... | pathogenic | 113,036 |
Located at chromosome 6 position 135433059, the variant affecting gene AHI1 (Abelson helper integration site 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | TTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAA... | TTTAAATCTTCACTAAGTCGTTATATCATCAGTCAGCCATCAGGAGGGTGTGCTAATTAATTATTGATAACTAAGAAAAACTGTTAATTTTTTGAAATGAGAGAACAGAATGTCCTGACATCCTATCTTAAAGTCATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAA... | pathogenic | 113,037 |
Evaluate this variant at chromosome 6, position 135433193, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | CATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCA... | CATGTGATTGGATTTTTCCAACTTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCA... | pathogenic | 113,043 |
Considering the variant on chromosome 6, location 135433215, involving gene AHI1 (Abelson helper integration site 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | TTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCAAAATGTAACTCACAAACAAACC... | TTCTTTAATTAAATCCCAAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCAAAATGTAACTCACAAACAAACC... | pathogenic | 113,044 |
Is chromosome 6, position 135433232, gene AHI1 (Abelson helper integration site 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCAAAATGTAACTCACAAACAAACCCCAATTATCTTTAAATG... | AAAATATAAAATATGATTTTATACCTTATTTATAGTCCAGTGGTGCACTGAATGTTCCAAATCATTAATCTTGACATAGGTATTCCAAACAACAATCACCCCTGTACAATCTCCTGAATACATATGATGACCTATTTAAAAAAATAAGATCACTCACTTATGAATGTCACACAGAGTTAGAAACAAATAATAGGAAATCGGGGGAAACTATACCCCAGTAAAACAGTCAAAGAATTGAAGGGCTATTAAAAGGTATTTCAGTTTAAAAAAGCCAAAAATCAAAATGTAACTCACAAACAAACCCCAATTATCTTTAAATG... | pathogenic | 113,045 |
Variant at chromosome 6, position 135438427, gene AHI1 (Abelson helper integration site 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_and_related_disorders'] | AGGAGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGT... | AGGAGTTAAACTGTCCAAATGGATTTAAAAATAGCAAGAAACTGCCAACCTCTGAAGAAAGAAGTTTATGTAGCATGGTGGGAAAGAAAGCCAGAATAACTGGGCTGAAGTAAAGACAGTATGTGTAGAATACTCCTGATGGTGTAGAAAAAGAAAAATAATGGGCTAGTCTAGAAGGCAGGAAGAACTGAAAATGATGTTTTTAAGATAAGGCAATTTGAGCATATTTCTTTTTTCTTTTTGAGGCAGAGTCTCAATCTGTCACCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGT... | pathogenic | 113,051 |
A mutation at chromosome position 135442604 on chromosome 6 in gene AHI1 (Abelson helper integration site 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AGGAGGCTCAGGACAAACAGAAAGTAAAGCTAAGGCAGAGCTGTAGATTGTGTACCGAAGCATTGAAGGTATACCCCAACACACACAGAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGT... | AGGAGGCTCAGGACAAACAGAAAGTAAAGCTAAGGCAGAGCTGTAGATTGTGTACCGAAGCATTGAAGGTATACCCCAACACACACAGAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGT... | pathogenic | 113,056 |
Considering the genetic mutation at chromosome 6, position 135442653, impacting AHI1 (Abelson helper integration site 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | GTGTACCGAAGCATTGAAGGTATACCCCAACACACACAGAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGTTGCCACACTGCATTATTAAAACATCCAGTTTTCAATACAAAATTATGAG... | GTGTACCGAAGCATTGAAGGTATACCCCAACACACACAGAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGTTGCCACACTGCATTATTAAAACATCCAGTTTTCAATACAAAATTATGAG... | pathogenic | 113,058 |
Clinical significance of chromosome 6, position 135442691, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | GAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGTTGCCACACTGCATTATTAAAACATCCAGTTTTCAATACAAAATTATGAGAAATGGAAAAAACAGGAAAGAGTGGCCCATACACAGGG... | GAGTCTCTTGGCAAAGACCAGTAGACCTATCCACTCAAGTATTTAAAAATCTCTGTCTAACCACAACGGTGGTCTCTGTCTGACCACGAACTTAACCGAGCACAGACATCAATGGCAACACATGACAGACAGTAAAGACTACAGAATTAGTCCAAAATCACAAAGCTAACTGCAAAAATAATAAATCTTGGGTGGGCGTGAGGGGAGAAAGGAGGGCATCTGATTTCCAGAGTTGCCACACTGCATTATTAAAACATCCAGTTTTCAATACAAAATTATGAGAAATGGAAAAAACAGGAAAGAGTGGCCCATACACAGGG... | pathogenic | 113,062 |
Clinical significance of chromosome 6, position 135453360, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_3'] | ATGAATTTTATCCTTGCCACTCTTTCTATCATCAATGATTAATTCCCTCAATATATATTCACCAAACACTTTCTATGTGACATTAATATGCTGGGAGCTGGTGATATTATAGCATGGAGTTTCAAGAGAGTGACATATTAAATGCAAAAAGACCTAGTAAAATAAGGACTAAAAATGTTCAACATATTTACCCAAAAGAAGTCATTGGTGACTCTAAAAAGCTTACAGTCTAATGAAGAAGACAGGTAAGTGTTAGAAGACGTGAAGCACATAGAATACCTTACTCTTTCTGGGGGGTGGGGATGGGATAAGAATTCTTG... | ATGAATTTTATCCTTGCCACTCTTTCTATCATCAATGATTAATTCCCTCAATATATATTCACCAAACACTTTCTATGTGACATTAATATGCTGGGAGCTGGTGATATTATAGCATGGAGTTTCAAGAGAGTGACATATTAAATGCAAAAAGACCTAGTAAAATAAGGACTAAAAATGTTCAACATATTTACCCAAAAGAAGTCATTGGTGACTCTAAAAAGCTTACAGTCTAATGAAGAAGACAGGTAAGTGTTAGAAGACGTGAAGCACATAGAATACCTTACTCTTTCTGGGGGGTGGGGATGGGATAAGAATTCTTG... | pathogenic | 113,081 |
Gene AHI1 (Abelson helper integration site 1) variant at chromosome position 135455842 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis'] | CTCACAACCCTATTTCTGGGTCTTTGTCTTGGATCACCTTCCTGAAGTTGGGGTTTTTCTCTTTGGATGTATGTTATAATTAGGCTTCTCAAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTT... | CTCACAACCCTATTTCTGGGTCTTTGTCTTGGATCACCTTCCTGAAGTTGGGGTTTTTCTCTTTGGATGTATGTTATAATTAGGCTTCTCAAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTT... | pathogenic | 113,088 |
Variant chromosome 6, position 135455872, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_1'] | GGATCACCTTCCTGAAGTTGGGGTTTTTCTCTTTGGATGTATGTTATAATTAGGCTTCTCAAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTTTACAGATATAATACATGCTCAGTGAAAACA... | GGATCACCTTCCTGAAGTTGGGGTTTTTCTCTTTGGATGTATGTTATAATTAGGCTTCTCAAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTTTACAGATATAATACATGCTCAGTGAAAACA... | pathogenic | 113,089 |
Mutation at chromosome 6, position 135455932, within AHI1 (Abelson helper integration site 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTTTACAGATATAATACATGCTCAGTGAAAACATAATATAAAAAATATATAGATCCAAAGTAAAAACAACTTGTAATCCAGACCCATAGATGG... | AAGAGGATTTCTTCCATTCCTCTATCCTGTCTGGACATTAAAGCTCATGGATTTGCAACCAACCTGCCACAGAGATCGTATTCTAGATATTTATCAAAGGCTATCACTTCAAACTTACTGGTGCTTATTAAAAGCTCAGCTGCGAAAATGAGATTTTTATAGAAAGAAGACTGCTTAAGAAATGATACAGACTCCAATCATCTGTGCTTTTTGGATACCTAAATCTTTTTTACAGATATAATACATGCTCAGTGAAAACATAATATAAAAAATATATAGATCCAAAGTAAAAACAACTTGTAATCCAGACCCATAGATGG... | benign | 113,093 |
Benign or pathogenic: chromosome 6, position 135463145, gene AHI1 (Abelson helper integration site 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3', 'Joubert_syndrome_and_related_disorders', 'Retinal_dystrophy'] | ACACCAATGAGAGAGAAATAATCAAACCAGAGTAGGACGACATTTGCGATATAAATGTGGGTAGGTATTTATATCTGAGAATAATCTCATATTGAGGTATATAAACCTATCACTACAAATCAATTAGAAAAAGACAATTCTGTGTTTTAAAAAATGCAGACAACTTGAATATATTTACAAATGTCAAAATCTAAGTAGTTAATAAACATGAAAACACTCAACTTCAATAGTTACCATGGAAATAAAATTAAAACCAAAATGAATATCACTATACATTCCTGAAGAATGAGGAAAATTTAGTCACTCCTAAGAATGACTAA... | ACACCAATGAGAGAGAAATAATCAAACCAGAGTAGGACGACATTTGCGATATAAATGTGGGTAGGTATTTATATCTGAGAATAATCTCATATTGAGGTATATAAACCTATCACTACAAATCAATTAGAAAAAGACAATTCTGTGTTTTAAAAAATGCAGACAACTTGAATATATTTACAAATGTCAAAATCTAAGTAGTTAATAAACATGAAAACACTCAACTTCAATAGTTACCATGGAAATAAAATTAAAACCAAAATGAATATCACTATACATTCCTGAAGAATGAGGAAAATTTAGTCACTCCTAAGAATGACTAA... | pathogenic | 113,104 |
Gene AHI1 (Abelson helper integration site 1) variant at chromosome position 135465859 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3', 'Retinal_dystrophy'] | GTACAATCATAGCTCACTGCTGCCTCAACCTCCCAGGCTCCAGCAATCCTCCCACTTCTGCCTCCCAAATAGCTGAGACTACAGGCACCATACCTGGCTAATTTTTGTAATTTTTGTAGAGATGGACTTTCACTATGTTGCTCAGGCATGGATTTCTAGGTAAAAATTAATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAA... | GTACAATCATAGCTCACTGCTGCCTCAACCTCCCAGGCTCCAGCAATCCTCCCACTTCTGCCTCCCAAATAGCTGAGACTACAGGCACCATACCTGGCTAATTTTTGTAATTTTTGTAGAGATGGACTTTCACTATGTTGCTCAGGCATGGATTTCTAGGTAAAAATTAATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAA... | pathogenic | 113,110 |
Does the chromosome 6 mutation at position 135465929 within gene AHI1 (Abelson helper integration site 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AGCTGAGACTACAGGCACCATACCTGGCTAATTTTTGTAATTTTTGTAGAGATGGACTTTCACTATGTTGCTCAGGCATGGATTTCTAGGTAAAAATTAATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTT... | AGCTGAGACTACAGGCACCATACCTGGCTAATTTTTGTAATTTTTGTAGAGATGGACTTTCACTATGTTGCTCAGGCATGGATTTCTAGGTAAAAATTAATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTT... | pathogenic | 113,112 |
Benign or pathogenic: chromosome 6, position 135466028, gene AHI1 (Abelson helper integration site 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | ATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTTGAGGAAAGTAAGACTAGAGAAATATTTCAAATTAGTCATTCCAGAAAGCCATTCTATTTGATCACATCACCAAACCCTGTTCTTTAAGGAGAACAGCTA... | ATTCCTTGGTGAGTCACTACATTTTCAGAAGGCTATTACTAAAATTAAAATCTATATCACATGAACTAGTAAATGGTAAGAAGTAGCAACCCAGAAGCATACTGAGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTTGAGGAAAGTAAGACTAGAGAAATATTTCAAATTAGTCATTCCAGAAAGCCATTCTATTTGATCACATCACCAAACCCTGTTCTTTAAGGAGAACAGCTA... | pathogenic | 113,114 |
The genetic variant at chromosome 6, position 135466132, affecting gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | AGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTTGAGGAAAGTAAGACTAGAGAAATATTTCAAATTAGTCATTCCAGAAAGCCATTCTATTTGATCACATCACCAAACCCTGTTCTTTAAGGAGAACAGCTACCCTTTGCGTGCCACTGTCACGTGTTATTAAAAATTCATGAGCTAACCCTATTTCATATTGACTATGGCTTACCAGTCTACCACAGAGGTGGTAGCTATGAGAA... | AGTTTAAAGAAAAACCAGCCTACTAACATTTTAATGTATCTAGTAAAAAATCTGCATGTAAATAATAAAAAATTAATTTCCAATATTTTTAGTCATATTTCAAAAAAAAAATGGGTTGAGGAAAGTAAGACTAGAGAAATATTTCAAATTAGTCATTCCAGAAAGCCATTCTATTTGATCACATCACCAAACCCTGTTCTTTAAGGAGAACAGCTACCCTTTGCGTGCCACTGTCACGTGTTATTAAAAATTCATGAGCTAACCCTATTTCATATTGACTATGGCTTACCAGTCTACCACAGAGGTGGTAGCTATGAGAA... | pathogenic | 113,118 |
Assess the variant on chromosome 6, position 135466360, impacting AHI1 (Abelson helper integration site 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3'] | CACTGTCACGTGTTATTAAAAATTCATGAGCTAACCCTATTTCATATTGACTATGGCTTACCAGTCTACCACAGAGGTGGTAGCTATGAGAAGGAAGATTTATAGTATACTATGGTAGGAAGCCTCTAAGATGGACCTTACTGATCCCCACCTCTTCATATTCATGTCTTTGTGTAATCCCCTTTCTTTTGTGTGTGGGCTGGACTAGTGACTTACTTCTGACAGACAGAATATGATAAAAGTAATGAATGCCACTTATAAGATTAGGTTCCAAAAAGACTGTGACTTCTGTCTTGCTCTCACTCTCTCAGAGCCCTTGG... | CACTGTCACGTGTTATTAAAAATTCATGAGCTAACCCTATTTCATATTGACTATGGCTTACCAGTCTACCACAGAGGTGGTAGCTATGAGAAGGAAGATTTATAGTATACTATGGTAGGAAGCCTCTAAGATGGACCTTACTGATCCCCACCTCTTCATATTCATGTCTTTGTGTAATCCCCTTTCTTTTGTGTGTGGGCTGGACTAGTGACTTACTTCTGACAGACAGAATATGATAAAAGTAATGAATGCCACTTATAAGATTAGGTTCCAAAAAGACTGTGACTTCTGTCTTGCTCTCACTCTCTCAGAGCCCTTGG... | pathogenic | 113,122 |
The genetic variant at chromosome 6, position 135490656, affecting gene AHI1 (Abelson helper integration site 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3', 'Joubert_syndrome_and_related_disorders'] | TTAACATGAGATTTAGAAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAA... | TTAACATGAGATTTAGAAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAA... | pathogenic | 113,127 |
Variant at chromosome position 135490661, chromosome 6, gene AHI1 (Abelson helper integration site 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_aplasia_of_the_vermis'] | ATGAGATTTAGAAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAAGTTAC... | ATGAGATTTAGAAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAAGTTAC... | pathogenic | 113,128 |
For chromosome 6, position 135490672, gene AHI1 (Abelson helper integration site 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_3', 'Retinal_dystrophy'] | AAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAAGTTACTTAACTTCTGA... | AAATAATATTTGTAAAACTCTTATTATTGTGCCTTATATATAACTGGAATATAAGATGAACCTGCCATTATTATGAATCCCTATTTTGACTTTTTTCCTCGCTTAATTTTATTTCAGACTGCTCCATTTCTCATCTCAGCCTGTTCTGTACATAGGACTCCCTGTTCTTCTTTCAAGAAGAAGTCCTATCTTTTCAAATTTCATTAAAATAGATAATATTGGGTTGTGGTTAAGGCAGTGGATTCTGCACTTCCACTCAGTGTTTGAATCCTGGTTCTACCATTTACTATGTAACTTTCAGCAAGTTACTTAACTTCTGA... | pathogenic | 113,129 |
Is the variant located on chromosome 6 at position 136822669, gene PEX7 (peroxisomal biogenesis factor 7), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | AATATTTTACAATGCTATAATCATGTATGGTTAGGTAAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCA... | AATATTTTACAATGCTATAATCATGTATGGTTAGGTAAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCA... | pathogenic | 113,142 |
Regarding the variant found on chromosome 6 at position 136822702 in gene PEX7 (peroxisomal biogenesis factor 7): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_9B'] | GGTAAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTG... | GGTAAGGAGCAGGTAATAGCTCAGTTTGTGTGTGTGTGTGTATGTCCAAGGTCACTGTAAATAGTTTACCCCAGCTGGAACCAGCCTTTCTCCCTCCCAGAGATACCACACTATTTTTAGCTTAGATTGGATAACTCTTTATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTG... | pathogenic | 113,144 |
Clinically, how would you classify the variant at chromosome 6, position 136822842, gene PEX7 (peroxisomal biogenesis factor 7): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAATGCTTAAATACCAGGTCCTTGGGATACAACAGCGAACATAACAAGCAAAAATTTCTGCCCTCATGCAGCATACATTCCAGTGACTACATATGATAAAAATCCAAAATAATAGAGGCCACACTGGTCTGGATCCTCAAG... | ATATACAACTCTTTGCCAAGGTCCCAGCTGCTTCATGTTTGCTTACTTTGATATTTTATTAACGCCTATTTAGCATTTCAATAAACTCCAGAATGTTTCCAGGTTACTTTTTGTAGTATTACGAAAAACACACTGATCATTTAGGCACTGTATTAGGCTGCATTCACTCAACATTTCCTGAATGCTTAAATACCAGGTCCTTGGGATACAACAGCGAACATAACAAGCAAAAATTTCTGCCCTCATGCAGCATACATTCCAGTGACTACATATGATAAAAATCCAAAATAATAGAGGCCACACTGGTCTGGATCCTCAAG... | benign | 113,151 |
A genetic variant on chromosome 6, position 136825261, affects the gene PEX7 (peroxisomal biogenesis factor 7). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | CCACAATTCCCAGTCTGCATTCGAGCACTGAGCTGCGACCTGCGGGCTGGCCTTCCTAAGGACGATGCTCCTGAATGGACGCCTGGAGTCCCACGGGTGACACCATGAAATATATCAAGTTCAGTTCTTACCTGTAGTTGTCTAACGAGGAATGCACACATTCGCAAGTAGGTGTTACAGACTCCAGTTAATTGTCTCCCGTCGCGCGCATTGGCTCAGCCTGTGGTTAAAGCTGCTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGATGTTGAGGCTACAATGAGCTGAGATCACATCACTCTGCCCCAGCCC... | CCACAATTCCCAGTCTGCATTCGAGCACTGAGCTGCGACCTGCGGGCTGGCCTTCCTAAGGACGATGCTCCTGAATGGACGCCTGGAGTCCCACGGGTGACACCATGAAATATATCAAGTTCAGTTCTTACCTGTAGTTGTCTAACGAGGAATGCACACATTCGCAAGTAGGTGTTACAGACTCCAGTTAATTGTCTCCCGTCGCGCGCATTGGCTCAGCCTGTGGTTAAAGCTGCTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGATGTTGAGGCTACAATGAGCTGAGATCACATCACTCTGCCCCAGCCC... | pathogenic | 113,153 |
Variant in gene PEX7 (peroxisomal biogenesis factor 7), located at chromosome 6 position 136826336: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | CCTCCTGGGCTCATATGATCCTCCTGTCTCAACCTCACCAGTAGCTGGGACCACAGGCATGTACCATCACACCTGGCTAATTTTTGATTTTTTATTTTTGTAGAGACAGGGTATCACTATGTTGCCCAGGCTGGTCCGGAACTGGGTGCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGACTGGCCTGTAATGCTACTTAAAATCTTATGCAAAAACTCTTTAAAGGGAATTGGTATTTAAAAAAAAAAATTCAGTCATGTTTAAATAGAAGAGATTTTCCCCCTTGGTCT... | CCTCCTGGGCTCATATGATCCTCCTGTCTCAACCTCACCAGTAGCTGGGACCACAGGCATGTACCATCACACCTGGCTAATTTTTGATTTTTTATTTTTGTAGAGACAGGGTATCACTATGTTGCCCAGGCTGGTCCGGAACTGGGTGCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGACTGGCCTGTAATGCTACTTAAAATCTTATGCAAAAACTCTTTAAAGGGAATTGGTATTTAAAAAAAAAAATTCAGTCATGTTTAAATAGAAGAGATTTTCCCCCTTGGTCT... | pathogenic | 113,157 |
Does the variant on chromosome 6 at location 136826340 affecting gene PEX7 (peroxisomal biogenesis factor 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder_9B'] | CTGGGCTCATATGATCCTCCTGTCTCAACCTCACCAGTAGCTGGGACCACAGGCATGTACCATCACACCTGGCTAATTTTTGATTTTTTATTTTTGTAGAGACAGGGTATCACTATGTTGCCCAGGCTGGTCCGGAACTGGGTGCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGACTGGCCTGTAATGCTACTTAAAATCTTATGCAAAAACTCTTTAAAGGGAATTGGTATTTAAAAAAAAAAATTCAGTCATGTTTAAATAGAAGAGATTTTCCCCCTTGGTCTCTAT... | CTGGGCTCATATGATCCTCCTGTCTCAACCTCACCAGTAGCTGGGACCACAGGCATGTACCATCACACCTGGCTAATTTTTGATTTTTTATTTTTGTAGAGACAGGGTATCACTATGTTGCCCAGGCTGGTCCGGAACTGGGTGCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGACTGGCCTGTAATGCTACTTAAAATCTTATGCAAAAACTCTTTAAAGGGAATTGGTATTTAAAAAAAAAAATTCAGTCATGTTTAAATAGAAGAGATTTTCCCCCTTGGTCTCTAT... | pathogenic | 113,158 |
Does the genetic variant at chromosome 6, position 136846083, impacting gene PEX7 (peroxisomal biogenesis factor 7), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | ATTAAACTTTTTTCCAGGTTTATTATGATTGGCAAATAAAAATTTGTAGGCTGGGCACGGTGGCTCATGCCTGTAAACCTAGCACTTTGGGAGGCTGAGGCGGTAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGGGGAACATGGTGAGACACTGTCTCTACAGAAAATAAGAAAAAAATTAGCTGGGTGTGGTGGCACGCAAGCGTGACTCCAGCTACTTAGGAGGCTGAGGTGTGGGAGGACCGCTTGAGCCCAGGAGGTCATCGCTGCAGTGAGCTGAGATTGTGCCCACTGCACTCCAGCCTGGGCGACTG... | ATTAAACTTTTTTCCAGGTTTATTATGATTGGCAAATAAAAATTTGTAGGCTGGGCACGGTGGCTCATGCCTGTAAACCTAGCACTTTGGGAGGCTGAGGCGGTAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGGGGAACATGGTGAGACACTGTCTCTACAGAAAATAAGAAAAAAATTAGCTGGGTGTGGTGGCACGCAAGCGTGACTCCAGCTACTTAGGAGGCTGAGGTGTGGGAGGACCGCTTGAGCCCAGGAGGTCATCGCTGCAGTGAGCTGAGATTGTGCCCACTGCACTCCAGCCTGGGCGACTG... | pathogenic | 113,175 |
Does the variant on chromosome 6 at location 136846161 affecting gene PEX7 (peroxisomal biogenesis factor 7) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | CTAGCACTTTGGGAGGCTGAGGCGGTAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGGGGAACATGGTGAGACACTGTCTCTACAGAAAATAAGAAAAAAATTAGCTGGGTGTGGTGGCACGCAAGCGTGACTCCAGCTACTTAGGAGGCTGAGGTGTGGGAGGACCGCTTGAGCCCAGGAGGTCATCGCTGCAGTGAGCTGAGATTGTGCCCACTGCACTCCAGCCTGGGCGACTGCGCAAGACCCTGTTTTGGAAAAAAAAAAAGAAAAATCTAAGTTGTACAGCTTAGGGTTTTGATCTAAATATATCTTGA... | CTAGCACTTTGGGAGGCTGAGGCGGTAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGGGGAACATGGTGAGACACTGTCTCTACAGAAAATAAGAAAAAAATTAGCTGGGTGTGGTGGCACGCAAGCGTGACTCCAGCTACTTAGGAGGCTGAGGTGTGGGAGGACCGCTTGAGCCCAGGAGGTCATCGCTGCAGTGAGCTGAGATTGTGCCCACTGCACTCCAGCCTGGGCGACTGCGCAAGACCCTGTTTTGGAAAAAAAAAAAGAAAAATCTAAGTTGTACAGCTTAGGGTTTTGATCTAAATATATCTTGA... | pathogenic | 113,177 |
A genetic alteration at chromosome 6, position 136869989, in gene PEX7 (peroxisomal biogenesis factor 7)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | TCACTCACTGACTCACCCAGAGTAATTTCCAGTTTTGTAAGCTCCATTCATGGTAAGGACCCTACTACCATTTTTTATCTTCCATACTATATTTTTACTATACCTTTTCTATGTTTAGATACAGAAAGCCTTACAATTGTGTTACAGTAGCCTACAGTATTCAGTACAGTAACATGCTGGACAGGCATGTAGCCTAGGAGCAATAGGCTGTTTCATCTAGCCTGGGTGTGTACTAGGCTGTACCACCTAGGTTTGTGTAAGTACACTCTGTGATGTTCACGCAAAGATGAAATTGCCTAATGCCACATTTCTGAGAGCAT... | TCACTCACTGACTCACCCAGAGTAATTTCCAGTTTTGTAAGCTCCATTCATGGTAAGGACCCTACTACCATTTTTTATCTTCCATACTATATTTTTACTATACCTTTTCTATGTTTAGATACAGAAAGCCTTACAATTGTGTTACAGTAGCCTACAGTATTCAGTACAGTAACATGCTGGACAGGCATGTAGCCTAGGAGCAATAGGCTGTTTCATCTAGCCTGGGTGTGTACTAGGCTGTACCACCTAGGTTTGTGTAAGTACACTCTGTGATGTTCACGCAAAGATGAAATTGCCTAATGCCACATTTCTGAGAGCAT... | pathogenic | 113,188 |
Gene PEX7 (peroxisomal biogenesis factor 7) variant at chromosome 6, position 136870021—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTTTGTAAGCTCCATTCATGGTAAGGACCCTACTACCATTTTTTATCTTCCATACTATATTTTTACTATACCTTTTCTATGTTTAGATACAGAAAGCCTTACAATTGTGTTACAGTAGCCTACAGTATTCAGTACAGTAACATGCTGGACAGGCATGTAGCCTAGGAGCAATAGGCTGTTTCATCTAGCCTGGGTGTGTACTAGGCTGTACCACCTAGGTTTGTGTAAGTACACTCTGTGATGTTCACGCAAAGATGAAATTGCCTAATGCCACATTTCTGAGAGCATATCCCCATCATTAAGTGATGCATGACTGTATT... | TTTTGTAAGCTCCATTCATGGTAAGGACCCTACTACCATTTTTTATCTTCCATACTATATTTTTACTATACCTTTTCTATGTTTAGATACAGAAAGCCTTACAATTGTGTTACAGTAGCCTACAGTATTCAGTACAGTAACATGCTGGACAGGCATGTAGCCTAGGAGCAATAGGCTGTTTCATCTAGCCTGGGTGTGTACTAGGCTGTACCACCTAGGTTTGTGTAAGTACACTCTGTGATGTTCACGCAAAGATGAAATTGCCTAATGCCACATTTCTGAGAGCATATCCCCATCATTAAGTGATGCATGACTGTATT... | benign | 113,189 |
Variant at chromosome position 136872182, chromosome 6, gene PEX7 (peroxisomal biogenesis factor 7): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCAATTAATTAGTAGTGAAAGCTAAAATTAGGCAAAAATATTTGAATAATGATTGAATGAATTTGGGCAATGTAGACATTCAATACTTAAGGTTAAATAAAAATCTTTTTCTCATTCTTTCACCTCCAATCTGTTTTTCCTTTAATATATTTTTTTAACTATAGTAATTCACTTTTAGTATTATGTTCTTTATAAGTTTCTAATTAGCGAGAGTCTCTACTTTGTTGAAACAGATGTAAAGAGATGGTTAATTCTTTCTTTTTCCTAACATGATAACATACATGACTGTTCACAGATGTTTGGGATATAGAAAGTTTTCT... | CCAATTAATTAGTAGTGAAAGCTAAAATTAGGCAAAAATATTTGAATAATGATTGAATGAATTTGGGCAATGTAGACATTCAATACTTAAGGTTAAATAAAAATCTTTTTCTCATTCTTTCACCTCCAATCTGTTTTTCCTTTAATATATTTTTTTAACTATAGTAATTCACTTTTAGTATTATGTTCTTTATAAGTTTCTAATTAGCGAGAGTCTCTACTTTGTTGAAACAGATGTAAAGAGATGGTTAATTCTTTCTTTTTCCTAACATGATAACATACATGACTGTTCACAGATGTTTGGGATATAGAAAGTTTTCT... | benign | 113,190 |
For chromosome 6, position 136872182, gene PEX7 (peroxisomal biogenesis factor 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CCAATTAATTAGTAGTGAAAGCTAAAATTAGGCAAAAATATTTGAATAATGATTGAATGAATTTGGGCAATGTAGACATTCAATACTTAAGGTTAAATAAAAATCTTTTTCTCATTCTTTCACCTCCAATCTGTTTTTCCTTTAATATATTTTTTTAACTATAGTAATTCACTTTTAGTATTATGTTCTTTATAAGTTTCTAATTAGCGAGAGTCTCTACTTTGTTGAAACAGATGTAAAGAGATGGTTAATTCTTTCTTTTTCCTAACATGATAACATACATGACTGTTCACAGATGTTTGGGATATAGAAAGTTTTCT... | CCAATTAATTAGTAGTGAAAGCTAAAATTAGGCAAAAATATTTGAATAATGATTGAATGAATTTGGGCAATGTAGACATTCAATACTTAAGGTTAAATAAAAATCTTTTTCTCATTCTTTCACCTCCAATCTGTTTTTCCTTTAATATATTTTTTTAACTATAGTAATTCACTTTTAGTATTATGTTCTTTATAAGTTTCTAATTAGCGAGAGTCTCTACTTTGTTGAAACAGATGTAAAGAGATGGTTAATTCTTTCTTTTTCCTAACATGATAACATACATGACTGTTCACAGATGTTTGGGATATAGAAAGTTTTCT... | benign | 113,192 |
Regarding the variant at chromosome 6 and position 136898195, affecting gene PEX7 (peroxisomal biogenesis factor 7): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['PEX7-related_disorder', 'Peroxisome_biogenesis_disorder_9B', 'Rhizomelic_chondrodysplasia_punctata_type_1'] | AACAGAAGCTGCATTCCAGGAATTTATCAGGAGAGTATAAATAAATTCTCGTTGTTTTGTATTATCCTTACGTTCTAAAAGAAACCAGTTTTTATGGTTTACATAAAGAATATTTAGCGTATCCATTCTGCTGAAATAAAATCTAAATTTCAAATGAAGTCAGAGAGCTAAATACCCGGATTACATCAAATTGACTTTCCCTTAGACCCATTCTTTTAAACTGCCCTTTAGGGTGATGCCATTCACTCATAAGCAGCAGCTGACAAAGCATCTGTATGTTTCCTCACAGATGTTGAGGATGTTCTTATTACATAAACATT... | AACAGAAGCTGCATTCCAGGAATTTATCAGGAGAGTATAAATAAATTCTCGTTGTTTTGTATTATCCTTACGTTCTAAAAGAAACCAGTTTTTATGGTTTACATAAAGAATATTTAGCGTATCCATTCTGCTGAAATAAAATCTAAATTTCAAATGAAGTCAGAGAGCTAAATACCCGGATTACATCAAATTGACTTTCCCTTAGACCCATTCTTTTAAACTGCCCTTTAGGGTGATGCCATTCACTCATAAGCAGCAGCTGACAAAGCATCTGTATGTTTCCTCACAGATGTTGAGGATGTTCTTATTACATAAACATT... | pathogenic | 113,197 |
Assess the variant on chromosome 6, position 136913781, impacting PEX7 (peroxisomal biogenesis factor 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATGAAGTTGCTATGAACATTCGTGTCTACATTGTTTTGCAAACATATGTTTTCATTTTTCTTGGACAAATATCTGGGAGTGGAATTACTGGGTCAAAAGATAGGTATGTGTTTAACTTGGTAAGAAACGGCCAAATTGTTTTCCAAAATGGTGGTACCATATACCTTCCCTACCAGCAATGTATGTGATCACAGCTGTTCCACATCCCTGCTGACATTTGGTGTTGTCAATCTTTAATTTTAGCCATAATGTGAATATATGGTGGTATCTCATTGTCATTTTTATTTGCATTTCCCTAATCCCTAATGATGTTGAGCACT... | ATGAAGTTGCTATGAACATTCGTGTCTACATTGTTTTGCAAACATATGTTTTCATTTTTCTTGGACAAATATCTGGGAGTGGAATTACTGGGTCAAAAGATAGGTATGTGTTTAACTTGGTAAGAAACGGCCAAATTGTTTTCCAAAATGGTGGTACCATATACCTTCCCTACCAGCAATGTATGTGATCACAGCTGTTCCACATCCCTGCTGACATTTGGTGTTGTCAATCTTTAATTTTAGCCATAATGTGAATATATGGTGGTATCTCATTGTCATTTTTATTTGCATTTCCCTAATCCCTAATGATGTTGAGCACT... | benign | 113,200 |
The mutation in gene IFNGR1 (interferon gamma receptor 1) at chromosome 6, position 137198270—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TAGAAGAATTAAATGTAAAACAATCATCACCAAAGACCAGAAGAAAACATGAGTGAAAACTTCTATCTTTTGGGGAAAGGGGAAGGGCTTTTTAAAAATAGAAGGAAATAAATAAATTTGACTTTATAAACAACTTAAACATCTGTGTGGTAAGTCAAAAGGCAGGAAATTATAAAATAAATCTGTAACTCAGGGCAGATAAAGGGTAGTAAGAAAGATATAAACAGCCCATAAAAAAATGGACAAAGAACAAGATGAGTTGGCATGAAACTATAAATAAGATATAAAAACATGCTCAAATTTACTAAAGAAATGCAAAT... | TAGAAGAATTAAATGTAAAACAATCATCACCAAAGACCAGAAGAAAACATGAGTGAAAACTTCTATCTTTTGGGGAAAGGGGAAGGGCTTTTTAAAAATAGAAGGAAATAAATAAATTTGACTTTATAAACAACTTAAACATCTGTGTGGTAAGTCAAAAGGCAGGAAATTATAAAATAAATCTGTAACTCAGGGCAGATAAAGGGTAGTAAGAAAGATATAAACAGCCCATAAAAAAATGGACAAAGAACAAGATGAGTTGGCATGAAACTATAAATAAGATATAAAAACATGCTCAAATTTACTAAAGAAATGCAAAT... | benign | 113,205 |
Variant on chromosome 6, at position 137200919, affecting IFNGR1 (interferon gamma receptor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_dominant_mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IFNgammaR1_deficiency', 'Disseminated_atypical_mycobacterial_infection', 'Helicobacter_pylori_infection,_susceptibility_to', 'Hepatitis_B_virus,_susceptibility_to', 'IFN-gamma_receptor_1_deficiency', 'Immunodeficiency_27A... | CGTTACTGTGATGGTTAATACTGAGTGTCAACTTGATTGGACTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTGTGAGGGTGCTGCCAAAGGAGATTAACATTTGAGTCAGTGGGCTGGGAAAGGAAGACCCGCCCTTAACCCGAATGGGCACAATCTAATCAGCTGCCAGCATGGCTAGAATGTAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGAATGCTTCCTGCCCTTGAACATCGGACTCTGAATTCTTCAAGTTTGGAGCTTGGACTGGCTCTC... | CGTTACTGTGATGGTTAATACTGAGTGTCAACTTGATTGGACTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTGTGAGGGTGCTGCCAAAGGAGATTAACATTTGAGTCAGTGGGCTGGGAAAGGAAGACCCGCCCTTAACCCGAATGGGCACAATCTAATCAGCTGCCAGCATGGCTAGAATGTAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCCATGCTGAATGCTTCCTGCCCTTGAACATCGGACTCTGAATTCTTCAAGTTTGGAGCTTGGACTGGCTCTC... | pathogenic | 113,212 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 137204354, gene IFNGR1 (interferon gamma receptor 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Disseminated_atypical_mycobacterial_infection', 'Immunodeficiency_27A', 'Inherited_Immunodeficiency_Diseases'] | GTATAATTCAGGCTAAAAACAAATCTGCGGCATTTGCATTATTTCAAATTTTGAGCATTAAGAAGGGTTTTATTTTTCAAATAGCATAACGAAAATTAGCATAAAATGCATTGCACTGCTTTAAATCACCTATTTGAAACCTTCATATAATGGCTTGAAGTTATTAGTATTGAATTTTAGGTGTTTGTTCTGGCTCTTCAGCCTATATTTCCATTCCTCGAAAATATACTTGCATCATAAAATTTTAAACCTATGAAATCTATTCTAAAAAAATCCTAAGGAAAAAAATATATGTATACACACACACACACACACACACA... | GTATAATTCAGGCTAAAAACAAATCTGCGGCATTTGCATTATTTCAAATTTTGAGCATTAAGAAGGGTTTTATTTTTCAAATAGCATAACGAAAATTAGCATAAAATGCATTGCACTGCTTTAAATCACCTATTTGAAACCTTCATATAATGGCTTGAAGTTATTAGTATTGAATTTTAGGTGTTTGTTCTGGCTCTTCAGCCTATATTTCCATTCCTCGAAAATATACTTGCATCATAAAATTTTAAACCTATGAAATCTATTCTAAAAAAATCCTAAGGAAAAAAATATATGTATACACACACACACACACACACACA... | pathogenic | 113,214 |
Located at chromosome 6 position 138905135, the variant affecting gene REPS1 (RALBP1 associated Eps domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GATGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTCACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACACGCCTGTAGTCCCTGCTACTTGCGACGCTGAGGCAGGAGAAGAATCACTTGTACCCGGGAGTCGGAGGTTGTAGTAAGCTGAGATGGCTCCATTGCACTTCAGCCTGGGTGACAAGAGCGAACCTCTGTCTCAAAAAAAAAAGAAAAAAAAAAGGACAAGAAATACAAATGGCAATTT... | GATGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGCAGATTACCTGAGGTCAGGAGTTTGAGACCAGCCTCACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACACGCCTGTAGTCCCTGCTACTTGCGACGCTGAGGCAGGAGAAGAATCACTTGTACCCGGGAGTCGGAGGTTGTAGTAAGCTGAGATGGCTCCATTGCACTTCAGCCTGGGTGACAAGAGCGAACCTCTGTCTCAAAAAAAAAAGAAAAAAAAAAGGACAAGAAATACAAATGGCAATTT... | benign | 113,264 |
Variant chromosome 6, position 142771781, gene HIVEP2 (HIVEP zinc finger 2): benign or pathogenic? Disease(s)? | pathogenic; ['Angelman_syndrome-like'] | ACCGAGGATTTGAAGGTGGCCTGTTGCACATAATTGGGTTTTGTATAATTCAAGAAGCACCAACTCACAGTAGTTGTTGTCCGCAGACTGGGGAACTGAAGAATCTGCTGGAAATCTGCCATGTCCGTGAGAAGAAGAGTTGAGTCTGCCACGTTCCCGCTGGGGGCAGAGGCCATGCGGACCAGCATGCCAACAGGCCGCTTGTGGCCCTTCCCTTCCTCTTCCAGCTGACCATCTCCTGCTGGTAATGAAGAACTCTGTGGGCTCATGCTCATGTCCGATGCCGTCTCATCGATATCTAATTCATCTGAAGATTCTTT... | ACCGAGGATTTGAAGGTGGCCTGTTGCACATAATTGGGTTTTGTATAATTCAAGAAGCACCAACTCACAGTAGTTGTTGTCCGCAGACTGGGGAACTGAAGAATCTGCTGGAAATCTGCCATGTCCGTGAGAAGAAGAGTTGAGTCTGCCACGTTCCCGCTGGGGGCAGAGGCCATGCGGACCAGCATGCCAACAGGCCGCTTGTGGCCCTTCCCTTCCTCTTCCAGCTGACCATCTCCTGCTGGTAATGAAGAACTCTGTGGGCTCATGCTCATGTCCGATGCCGTCTCATCGATATCTAATTCATCTGAAGATTCTTT... | pathogenic | 113,369 |
Evaluate the clinical significance of the mutation at chromosome 6, position 144187179 in gene STX11 (syntaxin 11): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_4'] | ACATTAAAAATCACCATCATAGAATAAAACTTCTGCTTAATTTATGTAAATAATGATCATGGTAGATGAAAGGCCGTGGTTAATATTTCACCATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTA... | ACATTAAAAATCACCATCATAGAATAAAACTTCTGCTTAATTTATGTAAATAATGATCATGGTAGATGAAAGGCCGTGGTTAATATTTCACCATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTA... | pathogenic | 113,448 |
Variant in STX11 (syntaxin 11), chromosome 6, position 144187205—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_4'] | AAACTTCTGCTTAATTTATGTAAATAATGATCATGGTAGATGAAAGGCCGTGGTTAATATTTCACCATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTAGCATATATACATGCTACTAAAAATGA... | AAACTTCTGCTTAATTTATGTAAATAATGATCATGGTAGATGAAAGGCCGTGGTTAATATTTCACCATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTAGCATATATACATGCTACTAAAAATGA... | pathogenic | 113,449 |
Is the variant located on chromosome 6 at position 144187271, gene STX11 (syntaxin 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_4'] | ATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTAGCATATATACATGCTACTAAAAATGAAAGTTTTTCACTTCACTGAAAAGCAATATGAACATAGAGACTATTACTTTGCCTTACTAAGCAGAG... | ATTTTCCATTTACCACCAAATCCAACTTGTCAGCATTCCATTAGTGGTGATATAAAATTAATTACTTCAACTTGAAAGAAGCTTTTAATTTGAGACCAAGAACCCTGATAGATTGCGTAACCATTAAGTGTTACTACTTTTCCCCTCTTTGCTGCAAATTGTGTAGTAGAAAAAGAATCTTTCTCATCATGAAGTCTTGTGTATAAACACAAGATATTCCCTATATTAGCATATATACATGCTACTAAAAATGAAAGTTTTTCACTTCACTGAAAAGCAATATGAACATAGAGACTATTACTTTGCCTTACTAAGCAGAG... | pathogenic | 113,450 |
Is the chromosome 6, position 145627653 variant in EPM2A (EPM2A glucan phosphatase, laforin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lafora_disease'] | TGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGT... | TGAATACCAATTATTACCTCTAGTTATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTTGTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCTCCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTATCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTGTGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGT... | pathogenic | 113,474 |
Regarding the variant at chromosome 6 and position 145686128, affecting gene EPM2A (EPM2A glucan phosphatase, laforin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Progressive_myoclonic_epilepsy'] | AAGAACAAACTAATATGCAAAAAGTGAATAACAGAATAAGTAAAAGTCCATGAAAATTAAGAATACAATTACCAAAATTAAGAAAAAAATAATCGATAGTTGAATTGGAAAAAAAGAAGCCTCTCAAAATGTAAAGCAATAAAAAAGATGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCA... | AAGAACAAACTAATATGCAAAAAGTGAATAACAGAATAAGTAAAAGTCCATGAAAATTAAGAATACAATTACCAAAATTAAGAAAAAAATAATCGATAGTTGAATTGGAAAAAAAGAAGCCTCTCAAAATGTAAAGCAATAAAAAAGATGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCA... | pathogenic | 113,485 |
The genetic variant at chromosome 6, position 145686233, affecting gene EPM2A (EPM2A glucan phosphatase, laforin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lafora_disease', 'Progressive_myoclonic_epilepsy'] | TGGAAAAAAAGAAGCCTCTCAAAATGTAAAGCAATAAAAAAGATGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACT... | TGGAAAAAAAGAAGCCTCTCAAAATGTAAAGCAATAAAAAAGATGACAAATATAAAATGTAAATCCAAGAGGTCCAACATCCATCTAAGGAGTGTCTCTAATGACAAAGAGCAAAGGCAATCAAGGAGAAGAAATAATCATTCAGTGGAAAAAAATCTCCAGAGCCCAAGATATGACTCTTCAGAAAAAAGGGTTCATTCAGGAAATGTGGTTCAGGATCATTTAAAAGAACCCATAAACATATCCTCATTAAATGTCAGACCATCTCAAGAAGTGTTGCTTCTCATTCCTTTCTCTGGATCTTCTGCTTCTCCTTGACT... | pathogenic | 113,488 |
The mutation impacting EPM2A on chromosome 6 at position 145735223: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lafora_disease'] | ATATTTTTCTTATCCTCTCTTATAGGAGTAACTTCCTAGAAAGTCAACAGTCAATTTTTAATACAAAACTGAAAATAATTCCTGCTTGGATAGTAAAGAAAAATATTTATCAAAAAAACTGAAAATAATAGTAAAAAAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTA... | ATATTTTTCTTATCCTCTCTTATAGGAGTAACTTCCTAGAAAGTCAACAGTCAATTTTTAATACAAAACTGAAAATAATTCCTGCTTGGATAGTAAAGAAAAATATTTATCAAAAAAACTGAAAATAATAGTAAAAAAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTA... | pathogenic | 113,495 |
Gene EPM2A variant at chromosome 6, position 145735359—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lafora_disease', 'Progressive_myoclonic_epilepsy'] | AAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATAAGCAAACTATTAACGGCATAGGGAGGACTATCAGAAAAGCTAAATAACTAGGGAAAGGGAAGATCTTTGTTTCACACCATTTCCATTTTTATTACAATTATCAGATATTATTTTAA... | AAAAATCAGCAGGGAAGACAGAGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATAAGCAAACTATTAACGGCATAGGGAGGACTATCAGAAAAGCTAAATAACTAGGGAAAGGGAAGATCTTTGTTTCACACCATTTCCATTTTTATTACAATTATCAGATATTATTTTAA... | pathogenic | 113,506 |
Does the chromosome 6 mutation at position 145735380 within gene EPM2A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lafora_disease', 'Progressive_myoclonic_epilepsy'] | AGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATAAGCAAACTATTAACGGCATAGGGAGGACTATCAGAAAAGCTAAATAACTAGGGAAAGGGAAGATCTTTGTTTCACACCATTTCCATTTTTATTACAATTATCAGATATTATTTTAAAAAATAATTCTACAATACTAT... | AGAGTGAACTTGAGCTAAATTCCTCATATTTCATAACAAGTGTGATGGTTAATTTTATGAGCATCCAGTAGGTGTCAATATCTATTGCCTAATTTTAACTTTTAAAATTATATATAACTTATATGGTAACTATTAGAAAAATTAAAAACAAAAGTTTGTGGTACCTTAAGAAATAGCAACATAAGCAAACTATTAACGGCATAGGGAGGACTATCAGAAAAGCTAAATAACTAGGGAAAGGGAAGATCTTTGTTTCACACCATTTCCATTTTTATTACAATTATCAGATATTATTTTAAAAAATAATTCTACAATACTAT... | pathogenic | 113,509 |
A genetic variant on chromosome 6, position 146159604, affects the gene GRM1 (glutamate metabotropic receptor 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCTATAAACAGGAGCAATGAATGAGTAACTCAAGAGGGACAATGAGGTCAGGGGTATTTTTCTTTTTGATTGACACTGATAGGAAGGAGAAATTGATTATCCAAGAGAGGGAACAACTGTAGGAGAAACTCCTTGAATAGACAAAAAGTGATGGGATCTAGTGTCCGTGAGCAGGAGTTGGCTCTAACCTAAAGTAGACACACTTCAAATTTACAACAGAAAGATTGATAGATAATATAAATGCCAGTGAAGAAATGTTTATAGATGTTGTAGTGGGAGGCAAAGCTAGTTTTTGGTAGACTGTTTCTATGTTCTTATTG... | GCTATAAACAGGAGCAATGAATGAGTAACTCAAGAGGGACAATGAGGTCAGGGGTATTTTTCTTTTTGATTGACACTGATAGGAAGGAGAAATTGATTATCCAAGAGAGGGAACAACTGTAGGAGAAACTCCTTGAATAGACAAAAAGTGATGGGATCTAGTGTCCGTGAGCAGGAGTTGGCTCTAACCTAAAGTAGACACACTTCAAATTTACAACAGAAAGATTGATAGATAATATAAATGCCAGTGAAGAAATGTTTATAGATGTTGTAGTGGGAGGCAAAGCTAGTTTTTGGTAGACTGTTTCTATGTTCTTATTG... | benign | 113,531 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 148343106, gene SASH1 (SAM and SH3 domain containing 1): what disease(s) if pathogenic? | benign | CCAGGAGTTCAAGGCCGCAGTGAGCTACGATTGCAGCACTGCACTGCCGGGGTGAGAGAGCAGGACCTTGTCTCTAAAAAAATTTTTCAGCATACTTTTTTTTTCTTTGGAGACAGAGAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGCAGCAGGACCTCACTGTAACCTTCGCCTCCTGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTTCCAACACTCTTGCTATGTTTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTGTGTT... | CCAGGAGTTCAAGGCCGCAGTGAGCTACGATTGCAGCACTGCACTGCCGGGGTGAGAGAGCAGGACCTTGTCTCTAAAAAAATTTTTCAGCATACTTTTTTTTTCTTTGGAGACAGAGAGTCTTCCTCTGTCACCCAGGCTGGAGTGCAGCAGCAGGACCTCACTGTAACCTTCGCCTCCTGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTTCCAACACTCTTGCTATGTTTTGTTTTTTTTTTTTGTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTGTGTT... | benign | 113,576 |
A genetic alteration at chromosome 6, position 149378825, in gene TAB2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | GCTCACAGTGCTATGCATATAGTATGTGTTTGGCAAACATTTTCGTGGATGATTTATGACTACTGGTTAGTTAGTATCTTTTGAGAATTCTTTAAAAACAATCTGAGGTTCCCCCCCCCCACTCTGGAGTAGATTTTTATGATGTTATCTAAAGGCAGAGATAGGAGCTAGTTCTTCTGGAGGCTACCTTGAGCCTCCAGAGAGAGAGGGATTACACAAGTTAAGAGGAAGCGTGTGAAGGATTGAGATGACTGGTATGAATTTCAGAACTTTAAATGCTACAAATGTAACTTATTTTTTTTTTTTTTTTTGAGACAGAG... | GCTCACAGTGCTATGCATATAGTATGTGTTTGGCAAACATTTTCGTGGATGATTTATGACTACTGGTTAGTTAGTATCTTTTGAGAATTCTTTAAAAACAATCTGAGGTTCCCCCCCCCCACTCTGGAGTAGATTTTTATGATGTTATCTAAAGGCAGAGATAGGAGCTAGTTCTTCTGGAGGCTACCTTGAGCCTCCAGAGAGAGAGGGATTACACAAGTTAAGAGGAAGCGTGTGAAGGATTGAGATGACTGGTATGAATTTCAGAACTTTAAATGCTACAAATGTAACTTATTTTTTTTTTTTTTTTTGAGACAGAG... | pathogenic | 113,591 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 149379252, gene TAB2. What disease(s) is it linked to if pathogenic? | pathogenic; ['Congenital_heart_defects,_multiple_types,_2'] | GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTATTTTTAGTAGAGACGGGATTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTAAAAACAATCTGAGGTTTTTTTCCCCCCCGCCACTCTGGAGTAGATTTTTATGATGTTATCTAAAGGCAGAGATAGGAGCTAGTTCTTCTGGAGGCTACCTTGAGCCTCCAGAGAGAGAGGGATTACACAAGTTAAGAGGAAGCGTGTGAAGGATTGAGATGACTGGTATGAATTTCAGAACT... | GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTATTTTTAGTAGAGACGGGATTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTAAAAACAATCTGAGGTTTTTTTCCCCCCCGCCACTCTGGAGTAGATTTTTATGATGTTATCTAAAGGCAGAGATAGGAGCTAGTTCTTCTGGAGGCTACCTTGAGCCTCCAGAGAGAGAGGGATTACACAAGTTAAGAGGAAGCGTGTGAAGGATTGAGATGACTGGTATGAATTTCAGAACT... | pathogenic | 113,596 |
Is the variant located on chromosome 6 at position 151405798, gene RMND1 (required for meiotic nuclear division 1 homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_11'] | TCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTCTGGAACAAACA... | TCTCGCTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTCTGGAACAAACA... | pathogenic | 113,619 |
Clinical significance of chromosome 6, position 151405803, gene RMND1 (required for meiotic nuclear division 1 homolog): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_11'] | CTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTCTGGAACAAACATCTGT... | CTGGAAGACATCAGATGTTTATCCTAGCACTGTTAACTGCAGATAAATATGTCCATCAGTTAGTACAGATGAATGTATTCTCTTGGTATAATACTGTGTAGCAGTTAAGTGAGTTGCAAAACGAAAGGATATGTGTGAAAAAAAAGTTGACAGGTGAGGACTATAGTGGGGCATCGGGTTATGCATAAAAGTAAGGCAATGAAGGTAAAGATTTGATTTTTAAATGTTGTCAACCCAAGGAGGTAAATATGTAGATGTTAAATTCTTTGTGCTTGGTATTTTTTAAATTTCCCCAAAATATCTCTGGAACAAACATCTGT... | pathogenic | 113,620 |
Clinically, how would you classify the variant at chromosome 6, position 151422610, gene RMND1 (required for meiotic nuclear division 1 homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CTTATTTAAAATGATTCATCAGTTTTTAGACATAGTTATTCCCATTTTAACATCTCGAGGCATCTTAAAATTAATGGTGTCTGACAGGTGGCACTTGAGACTTACTTGTCTTTGCCTTAAATAATTTATTTTCTTATGCTTTCCTTTTCATATATGCCCAAGAGGGAATGTGATATAATTTATATCCAGCTAAGATTAAAAGATATTTCAGTAAGTGTAAAATTTTAATCCTCTGATAAAAAAAGTATTGTCATAGTTTAACTGGCAGCAGTTTTTCTCTCCAGTGGCATCTTGGTGTCTCAGATTCAAAGAAACTTTTC... | CTTATTTAAAATGATTCATCAGTTTTTAGACATAGTTATTCCCATTTTAACATCTCGAGGCATCTTAAAATTAATGGTGTCTGACAGGTGGCACTTGAGACTTACTTGTCTTTGCCTTAAATAATTTATTTTCTTATGCTTTCCTTTTCATATATGCCCAAGAGGGAATGTGATATAATTTATATCCAGCTAAGATTAAAAGATATTTCAGTAAGTGTAAAATTTTAATCCTCTGATAAAAAAAGTATTGTCATAGTTTAACTGGCAGCAGTTTTTCTCTCCAGTGGCATCTTGGTGTCTCAGATTCAAAGAAACTTTTC... | benign | 113,626 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 151445326, gene RMND1 (required for meiotic nuclear division 1 homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_11'] | AAATTACATTATCTCAGACCACTTTAGAAACATGATTTTCTTCTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGCCGCTGGGATTACAGGTGTGCACCACTACGCCTGGCTAATTTTTGTATATTTGTAGAGACAGGGTTTCACCATATTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCGCCTGCCTGGGCCTCCCAAAGTGTTGGGATTACAGCTGTGAGCCA... | AAATTACATTATCTCAGACCACTTTAGAAACATGATTTTCTTCTCTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGCCGCTGGGATTACAGGTGTGCACCACTACGCCTGGCTAATTTTTGTATATTTGTAGAGACAGGGTTTCACCATATTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCGCCTGCCTGGGCCTCCCAAAGTGTTGGGATTACAGCTGTGAGCCA... | pathogenic | 113,641 |
Regarding the variant at chromosome 6 and position 151445520, affecting gene RMND1 (required for meiotic nuclear division 1 homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_11'] | TGGCTAATTTTTGTATATTTGTAGAGACAGGGTTTCACCATATTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCGCCTGCCTGGGCCTCCCAAAGTGTTGGGATTACAGCTGTGAGCCACCGCCCAGCCAGAAACATCTGATTTTCTATTATTTCCCTGTGCTTTCAGAAAGACAGCATGCGACTTGCTCTTGCCAAACTCCAACTGAAGTCATTGTCTATCATGTTACATAATGTCTCCTATAACAGAATCCATGAAATAACTAACTCCTTAATTTCAGTGCTGGAAAAAGTTATTTCTCTGAAGATATTTT... | TGGCTAATTTTTGTATATTTGTAGAGACAGGGTTTCACCATATTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCGCCTGCCTGGGCCTCCCAAAGTGTTGGGATTACAGCTGTGAGCCACCGCCCAGCCAGAAACATCTGATTTTCTATTATTTCCCTGTGCTTTCAGAAAGACAGCATGCGACTTGCTCTTGCCAAACTCCAACTGAAGTCATTGTCTATCATGTTACATAATGTCTCCTATAACAGAATCCATGAAATAACTAACTCCTTAATTTCAGTGCTGGAAAAAGTTATTTCTCTGAAGATATTTT... | pathogenic | 113,644 |
Variant on chromosome 6, at position 151445724, affecting RMND1 (required for meiotic nuclear division 1 homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | ACTCCAACTGAAGTCATTGTCTATCATGTTACATAATGTCTCCTATAACAGAATCCATGAAATAACTAACTCCTTAATTTCAGTGCTGGAAAAAGTTATTTCTCTGAAGATATTTTTATGTTTTTACTCTGCCCTCTCCCACAACAATAAACAACAAACACTAAATCCCAGGAGGAGTTCCTCTTTTAATTACTGCGCTTCTCAAAACAAAATGTTCAACTAGATTATTCATTTCAGGTACTTCATAACATTTCTCTGTTCATGTCAACTATTTGCTCTAATATGTGAAAGTATTTATTATCTCATTTGAAACTATGTTG... | ACTCCAACTGAAGTCATTGTCTATCATGTTACATAATGTCTCCTATAACAGAATCCATGAAATAACTAACTCCTTAATTTCAGTGCTGGAAAAAGTTATTTCTCTGAAGATATTTTTATGTTTTTACTCTGCCCTCTCCCACAACAATAAACAACAAACACTAAATCCCAGGAGGAGTTCCTCTTTTAATTACTGCGCTTCTCAAAACAAAATGTTCAACTAGATTATTCATTTCAGGTACTTCATAACATTTCTCTGTTCATGTCAACTATTTGCTCTAATATGTGAAAGTATTTATTATCTCATTTGAAACTATGTTG... | pathogenic | 113,649 |
A genetic variant at chromosome 6, position 152139913, affecting gene SYNE1 (spectrin repeat containing nuclear envelope protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGACAGGAAGCATCAGGAGAAAGTACAAAGGAGGATGTCTTTTTTCTTGTCATGCCGGATGACTTTCAAGGTCTTATTTCCCTACCCTAATCTCTCTGAGGTCTCAGACCCTGGCCAGCATTTGCTTCATCAACTTTTTAAGGAATCTGGTTATAATGCAACATGGCCTTACTAGAGTAATTTAGGGACTCTAGATAAAAATGCATTTCATAATGCAGCCATTGTAAATCTCTCTCACGTGGTACTTTGTCCTGAAATTCATGGGGTAGTGTAGAGGCCTTTCTATAGGGATGCACCTTTTGGATCACCTGGAGGGGAGA... | AGACAGGAAGCATCAGGAGAAAGTACAAAGGAGGATGTCTTTTTTCTTGTCATGCCGGATGACTTTCAAGGTCTTATTTCCCTACCCTAATCTCTCTGAGGTCTCAGACCCTGGCCAGCATTTGCTTCATCAACTTTTTAAGGAATCTGGTTATAATGCAACATGGCCTTACTAGAGTAATTTAGGGACTCTAGATAAAAATGCATTTCATAATGCAGCCATTGTAAATCTCTCTCACGTGGTACTTTGTCCTGAAATTCATGGGGTAGTGTAGAGGCCTTTCTATAGGGATGCACCTTTTGGATCACCTGGAGGGGAGA... | benign | 113,681 |
Benign or pathogenic: chromosome 6, position 152208032, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant? Disease(s) if pathogenic? | pathogenic | AATTGGGAAACTTTTCCAGTTTGTGCAAGATAAGACAAAGTCTTAAATAAAACACAGAGAATCAAAATACTGCAGGGTATTATTTCATGATCTTTGCATTATTTGATTTGTAGAATAACAATGGGAGGAAGTAGTACAACGACTAAAAGGGTTTTTTGGTTCGTTTTTTTCTAACTGAACTTACTTTCAACAAGAAGGCTAGTTTTTTCTTCTGTTCTTCCAGCCGCATGCTGGCTGATTTCCATTTCTCTTGGATTTCAGCGAGTTCGGCCTGCAAGGCGGCCTCAGCGCCACTGTCCGCCGAGAGAAGGAGTTGCTTG... | AATTGGGAAACTTTTCCAGTTTGTGCAAGATAAGACAAAGTCTTAAATAAAACACAGAGAATCAAAATACTGCAGGGTATTATTTCATGATCTTTGCATTATTTGATTTGTAGAATAACAATGGGAGGAAGTAGTACAACGACTAAAAGGGTTTTTTGGTTCGTTTTTTTCTAACTGAACTTACTTTCAACAAGAAGGCTAGTTTTTTCTTCTGTTCTTCCAGCCGCATGCTGGCTGATTTCCATTTCTCTTGGATTTCAGCGAGTTCGGCCTGCAAGGCGGCCTCAGCGCCACTGTCCGCCGAGAGAAGGAGTTGCTTG... | pathogenic | 113,733 |
Located at chromosome 6 position 152231569, the variant affecting gene SYNE1 (spectrin repeat containing nuclear envelope protein 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATAATGGGATATTATTAATAATTAATTAATAGGAATTCCACTGTGAAGTGCTTGTTCAGAGGAGGTGAACGGGAATCCAACTAAGCCTCTAGTGCTAACTTCCATTTATAGGACATACAGAGGAGAGAAGAACAAATTAAACATCTTAAGGACATTCATAGGCCAATCCTGAACATGGCACCCATCAACAGCTTCTGCGACAGGTTATGGTCTTAAAAAAATATTCAAAAGATTTAAGAGATCTAACAAGCAAATGTAGCATATGCATATTGTTTGCATCCTTATTTTGAATAAGTTAACATATAAAAGAAATTTTAAAG... | ATAATGGGATATTATTAATAATTAATTAATAGGAATTCCACTGTGAAGTGCTTGTTCAGAGGAGGTGAACGGGAATCCAACTAAGCCTCTAGTGCTAACTTCCATTTATAGGACATACAGAGGAGAGAAGAACAAATTAAACATCTTAAGGACATTCATAGGCCAATCCTGAACATGGCACCCATCAACAGCTTCTGCGACAGGTTATGGTCTTAAAAAAATATTCAAAAGATTTAAGAGATCTAACAAGCAAATGTAGCATATGCATATTGTTTGCATCCTTATTTTGAATAAGTTAACATATAAAAGAAATTTTAAAG... | benign | 113,763 |
A genetic alteration at chromosome 6, position 152236976, in gene SYNE1 (spectrin repeat containing nuclear envelope protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTTGGCACTCTGAAATTTTCTTCATATTGATACCTTTATCAAGCCTGTCTCTCTGGGTTTCCGCTGGCCTGTCTTTAAGCTGGGTATAAAAATACCTTTCCCCTACTCTTTCACATTGATGCTACTTAGAAAATATTAGATGATGGTTACAAAAAGTCCTTTGAAATAAAGGCGGCTTAGACACAGACTATGTCATTATGTAAAAATCAACCCTCCACCCCGCTGAATGCTTCCCATTGCCCTTGAGAAGCTTCTGCTTCTCAATCCATGTTTTCTCTTTCTCTCCCTCTCAGGCTTTACTGTGATATCTCAGACACAGT... | GTTGGCACTCTGAAATTTTCTTCATATTGATACCTTTATCAAGCCTGTCTCTCTGGGTTTCCGCTGGCCTGTCTTTAAGCTGGGTATAAAAATACCTTTCCCCTACTCTTTCACATTGATGCTACTTAGAAAATATTAGATGATGGTTACAAAAAGTCCTTTGAAATAAAGGCGGCTTAGACACAGACTATGTCATTATGTAAAAATCAACCCTCCACCCCGCTGAATGCTTCCCATTGCCCTTGAGAAGCTTCTGCTTCTCAATCCATGTTTTCTCTTTCTCTCCCTCTCAGGCTTTACTGTGATATCTCAGACACAGT... | benign | 113,778 |
Is chromosome 6, position 152239593, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | TATCAAAAGATCCTCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCTAGCCCAGGTATGTATGGTTTTATTCTTTACCACAGTAAGGATTTAAGTCAAAAGGATGGGGATGTTTGCCTTTCATGTAACGAGTAAACAAATCAATTACATTTGCATATGAAACATATCTATAAATATGAATATATAGTTTATATATTCTGTTAAAGAAAAATACCACATCACTTATTCCTAAGTTCAGACTTTTATTTTATTTAAAACTGGAAAACACTTTTTAAAAGATCAGTTGAAGTCTTTTCCAGTAA... | TATCAAAAGATCCTCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACATCTAGCCCAGGTATGTATGGTTTTATTCTTTACCACAGTAAGGATTTAAGTCAAAAGGATGGGGATGTTTGCCTTTCATGTAACGAGTAAACAAATCAATTACATTTGCATATGAAACATATCTATAAATATGAATATATAGTTTATATATTCTGTTAAAGAAAAATACCACATCACTTATTCCTAAGTTCAGACTTTTATTTTATTTAAAACTGGAAAACACTTTTTAAAAGATCAGTTGAAGTCTTTTCCAGTAA... | pathogenic | 113,780 |
Variant at chromosome position 152278296, chromosome 6, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGGATACAGGCGTGAGCCACTGTGCTCGGCTGACTTCATTTTTTAATTTTTATTTTTTGTTGGATTCTTTTATGCTTTTCAATGACCTAACTTCATATTTTTAATAAGCCAGTCATCTTCCTAAATTTCTCCATTGCTTCTAAATAGTTTTTAGTTGATTAAGTTTGGTTTTCCATATCATATAATCATATCATCAGCAAAAAGCCGAAAAAAAAAATACATAGGTTAGTCCTAACAATCATCCTCACACTGAGAAAACAGAAG... | TGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGGATACAGGCGTGAGCCACTGTGCTCGGCTGACTTCATTTTTTAATTTTTATTTTTTGTTGGATTCTTTTATGCTTTTCAATGACCTAACTTCATATTTTTAATAAGCCAGTCATCTTCCTAAATTTCTCCATTGCTTCTAAATAGTTTTTAGTTGATTAAGTTTGGTTTTCCATATCATATAATCATATCATCAGCAAAAAGCCGAAAAAAAAAATACATAGGTTAGTCCTAACAATCATCCTCACACTGAGAAAACAGAAG... | benign | 113,802 |
The mutation in gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) at chromosome 6, position 152293940—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTTCTGAATGCTTAAAGAACGGGGCCTCCTACAGAACAGCCATCGAGGTTGGCCTGAGGAGCACATACTCAACCTGAAGGAAGCTCTCTGGCTCCTTCCAGTACAGTGAAGCAGAGGTGCAGGGAACAGCTGGACAGACAGAACCGCAGGAGCAAGGAAGACCTAGGAGCCACAGGGAGCACACTGGAGCAACAGGGACACCCCTTCAGATCAGAAAGAGGTGGCCGCTGGCAACAGAAAACTGAAGTAGCAGCTAAAGAGAACTGGGAGACACTGAGGCCCCTTTAGAAAGGAGAGGGGTTTGGGAGACTAGCAGTCT... | CCTTCTGAATGCTTAAAGAACGGGGCCTCCTACAGAACAGCCATCGAGGTTGGCCTGAGGAGCACATACTCAACCTGAAGGAAGCTCTCTGGCTCCTTCCAGTACAGTGAAGCAGAGGTGCAGGGAACAGCTGGACAGACAGAACCGCAGGAGCAAGGAAGACCTAGGAGCCACAGGGAGCACACTGGAGCAACAGGGACACCCCTTCAGATCAGAAAGAGGTGGCCGCTGGCAACAGAAAACTGAAGTAGCAGCTAAAGAGAACTGGGAGACACTGAGGCCCCTTTAGAAAGGAGAGGGGTTTGGGAGACTAGCAGTCT... | benign | 113,815 |
Does the variant on chromosome 6 at location 152293989 affecting gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant', 'Inborn_genetic_diseases', 'SYNE1-related_disorder'] | TTGGCCTGAGGAGCACATACTCAACCTGAAGGAAGCTCTCTGGCTCCTTCCAGTACAGTGAAGCAGAGGTGCAGGGAACAGCTGGACAGACAGAACCGCAGGAGCAAGGAAGACCTAGGAGCCACAGGGAGCACACTGGAGCAACAGGGACACCCCTTCAGATCAGAAAGAGGTGGCCGCTGGCAACAGAAAACTGAAGTAGCAGCTAAAGAGAACTGGGAGACACTGAGGCCCCTTTAGAAAGGAGAGGGGTTTGGGAGACTAGCAGTCTAGTGATAAAATGGGGGAAGCTCAGAAGTAAATGGCATTGGAATAGTCCC... | TTGGCCTGAGGAGCACATACTCAACCTGAAGGAAGCTCTCTGGCTCCTTCCAGTACAGTGAAGCAGAGGTGCAGGGAACAGCTGGACAGACAGAACCGCAGGAGCAAGGAAGACCTAGGAGCCACAGGGAGCACACTGGAGCAACAGGGACACCCCTTCAGATCAGAAAGAGGTGGCCGCTGGCAACAGAAAACTGAAGTAGCAGCTAAAGAGAACTGGGAGACACTGAGGCCCCTTTAGAAAGGAGAGGGGTTTGGGAGACTAGCAGTCTAGTGATAAAATGGGGGAAGCTCAGAAGTAAATGGCATTGGAATAGTCCC... | pathogenic | 113,816 |
Benign or pathogenic: chromosome 6, position 152308637, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant? Disease(s) if pathogenic? | benign | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | benign | 113,831 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 152308637, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1): what disease(s) if pathogenic? | benign | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | benign | 113,832 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 152308637, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1). What disease(s) is it linked to if pathogenic? | benign | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | AAGCTGGCTGGGCATGGTGACTCATATCTTTTATTCTAGCACTTTGGGAGGCTGAGGCAGGCATATCACTTGAGCCCAGGAGTTTGAGACCAACCTGGATAACATGGCGAAACTCTGTCTCTACTCTACAAAAAAAAAAAATGCAAAAACTAGCCTGAGGTAGTGGTACATGCTCGTAGTCCCAAATACTTGGAGGCTGAGGTGGGAGGACTGCCTGAACCCAGTAGGTACAGACTGCAATAAGCCATGATCCCACTGTGAGCCATGATCTTGCCACTGCACTCTAGCTTGGATGATACAGCAAGACTGTGTCTCAAAAA... | benign | 113,833 |
Gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant at chromosome position 152323497 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CAAGGCTGTATATTTTTCATCAACATATAATTAAGTGTGGAATTAGAAAAATATCTTAATACAACATTGTTCTTTTGTCTCTGAATATAAAGTATGTTCACTTTAAAAAACAAAGGAAAATCCCATGAAGTAATACTAAATATCTTTTATATAACACACTTCTGAAATTTTTTAATTCAATATTCAATAAATACAAACAAGTATGTTCAACTAAAATCAGGGCAATTGTTTTTGAAATGATGGGTAAAGAGAATGAGGAGACTTTTTTGTACCTGAAGTTCTTCAAGTTGAGCATCTATTTCTATTGTTGGATTCCCTAA... | CAAGGCTGTATATTTTTCATCAACATATAATTAAGTGTGGAATTAGAAAAATATCTTAATACAACATTGTTCTTTTGTCTCTGAATATAAAGTATGTTCACTTTAAAAAACAAAGGAAAATCCCATGAAGTAATACTAAATATCTTTTATATAACACACTTCTGAAATTTTTTAATTCAATATTCAATAAATACAAACAAGTATGTTCAACTAAAATCAGGGCAATTGTTTTTGAAATGATGGGTAAAGAGAATGAGGAGACTTTTTTGTACCTGAAGTTCTTCAAGTTGAGCATCTATTTCTATTGTTGGATTCCCTAA... | pathogenic | 113,857 |
Considering the genetic mutation at chromosome 6, position 152347162, impacting SYNE1 (spectrin repeat containing nuclear envelope protein 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | TTTGTTCTCTTTATCACTTTTGCAAACTTTAATTATGAAGTTCTGATTATGTTCTTAGAATTTCATCCACTTTTTAAATTTTAAAAATTATGTTGGCTTTTCCAACATCCACCAATTAAAACAAATTAAACTGTATCCCTAATACAAAGAAAATGTCCACTGTGAAGGAAGACAGTGTGCAAGAAATCTCTGTTGAATGAGTGAACGAATGAACTCACCAGAAAGTTCTATGTGTAGCCTCATTTTCTCTCTTCACTCCCCCTTTTCTCCCCTTGTCATCATTTTCAATTATTTATTAGATTCTTGTAGTCCTCTTTTGT... | TTTGTTCTCTTTATCACTTTTGCAAACTTTAATTATGAAGTTCTGATTATGTTCTTAGAATTTCATCCACTTTTTAAATTTTAAAAATTATGTTGGCTTTTCCAACATCCACCAATTAAAACAAATTAAACTGTATCCCTAATACAAAGAAAATGTCCACTGTGAAGGAAGACAGTGTGCAAGAAATCTCTGTTGAATGAGTGAACGAATGAACTCACCAGAAAGTTCTATGTGTAGCCTCATTTTCTCTCTTCACTCCCCCTTTTCTCCCCTTGTCATCATTTTCAATTATTTATTAGATTCTTGTAGTCCTCTTTTGT... | pathogenic | 113,917 |
Variant at chromosome position 152350784, chromosome 6, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGTTCTAGTGTTTTTTTTTTTTCCTGTTATATGATGCTAATGACAAGTGACACAATCCAACATAGGGTAGCCTGGGTAACCCATCATTATATCTATAGGAAACCTGGGTGGCCCTTCAGCAGTCCAGGGTCTACAAACAGCGCTGGGCTAGCAGTTATCATATATGCTCAGTTGAAAAGAACCACTCTGTCTCTGAGTTGGAACAGAACCACTCCATCATGAGGCCATTCATGGGGTAGACTACCTTCTGGATTGTCATCTCCTCAGTGCCTACCAGAAGGTATTGTGTAGCTACTTTTTTATTCATATTTGTTAAATA... | AAGTTCTAGTGTTTTTTTTTTTTCCTGTTATATGATGCTAATGACAAGTGACACAATCCAACATAGGGTAGCCTGGGTAACCCATCATTATATCTATAGGAAACCTGGGTGGCCCTTCAGCAGTCCAGGGTCTACAAACAGCGCTGGGCTAGCAGTTATCATATATGCTCAGTTGAAAAGAACCACTCTGTCTCTGAGTTGGAACAGAACCACTCCATCATGAGGCCATTCATGGGGTAGACTACCTTCTGGATTGTCATCTCCTCAGTGCCTACCAGAAGGTATTGTGTAGCTACTTTTTTATTCATATTTGTTAAATA... | benign | 113,925 |
Clinical significance of chromosome 6, position 152381129, gene SYNE1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | TTCAACAAAAACATAAAAATACTGGAGATTCAAGTCAGTTACTTATGAATGGGATGACATTAAAAGTGAAAAGTTTTTGACCAAAACGTTACATTTAAAACATTTCTATAACTTCATCCTAAAGTATGTCAGTAGAGTCAATATATAAATATCAGCTTATGTATTTCTGATTCTGTTAAGTTCTAGAATGCATCTTTCCACCTTATACAGCTTAAGAAAATTATTTCCAAAGCTAATATCCCAAAGGATATTAAGATAAATGAGTTTCGCAAACATAGTAAATAGAATTATTTTTACAATATTATATTATATACTTTATA... | TTCAACAAAAACATAAAAATACTGGAGATTCAAGTCAGTTACTTATGAATGGGATGACATTAAAAGTGAAAAGTTTTTGACCAAAACGTTACATTTAAAACATTTCTATAACTTCATCCTAAAGTATGTCAGTAGAGTCAATATATAAATATCAGCTTATGTATTTCTGATTCTGTTAAGTTCTAGAATGCATCTTTCCACCTTATACAGCTTAAGAAAATTATTTCCAAAGCTAATATCCCAAAGGATATTAAGATAAATGAGTTTCGCAAACATAGTAAATAGAATTATTTTTACAATATTATATTATATACTTTATA... | pathogenic | 113,979 |
A genetic variant at chromosome 6, position 152391585, affecting gene SYNE1 (spectrin repeat containing nuclear envelope protein 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCAACAAATGAGCCAGATTATTTATGGATACTCTGAGAAGAGGGAGGTAGGGAGAAATCTCTCACTTATAATTACAACAAAAACACTACCTGGTATAACAATCAAGGACTTCCCTGCTTCCTCATCAACATCTGGTACAGATGATTTTCAACAGAGGCTCTACGGCTGGGCTCTATTCTGGATGGACTGACTCTTGGTTGTGGGAGAATGTTCCACACTTTGTAGGATATGAGCTCTCTGTGCCTCAGTCACTAAATGCCAGGGATATTCCCTCGTCACTGTGACAATCAAAACCATCCTACACATTTCCTATAATGCAA... | CCAACAAATGAGCCAGATTATTTATGGATACTCTGAGAAGAGGGAGGTAGGGAGAAATCTCTCACTTATAATTACAACAAAAACACTACCTGGTATAACAATCAAGGACTTCCCTGCTTCCTCATCAACATCTGGTACAGATGATTTTCAACAGAGGCTCTACGGCTGGGCTCTATTCTGGATGGACTGACTCTTGGTTGTGGGAGAATGTTCCACACTTTGTAGGATATGAGCTCTCTGTGCCTCAGTCACTAAATGCCAGGGATATTCCCTCGTCACTGTGACAATCAAAACCATCCTACACATTTCCTATAATGCAA... | benign | 114,009 |
Mutation found at chromosome 6 position 152399691, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | TTTTCAACATCATTTTTATCCCCCATTAGGCCACAAAATCCTCATGGTTCTCATTAGCTTTTAAAAATGATTTATTTTGGCCGGGCATGGTGGCTCATGTTTGTAACTAGCACTTTGAGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAAATCATGCCAC... | TTTTCAACATCATTTTTATCCCCCATTAGGCCACAAAATCCTCATGGTTCTCATTAGCTTTTAAAAATGATTTATTTTGGCCGGGCATGGTGGCTCATGTTTGTAACTAGCACTTTGAGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAAATCATGCCAC... | pathogenic | 114,016 |
Gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant at chromosome 6, position 152416784—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | TACTCTGGCAATTTGAGGATCTCCTGTCTGCTTGGTCTAAGAAGGCCATGACACCCTGCAGCACCAATGATACTGCTGGCATCCAGGGTGAGTGACACTAGGCACCTTGTTCTCTCTTTATTCTGGAGGCTATTTTTTCTTCCCAAGTATCATTCCCTTTTGTAAATTTATTCTTAAACTAATCAGATAATTTATTGCCTATAAAGGGTATAACCTCAGGAGCCCAGTCCCAATATTGACTCCACTATCATCTGACTAAATCCTCGACATAATGGTTGATTCTGGTTAAAAGGAAACAACCAGCAATGGTCTTTCAGGAA... | TACTCTGGCAATTTGAGGATCTCCTGTCTGCTTGGTCTAAGAAGGCCATGACACCCTGCAGCACCAATGATACTGCTGGCATCCAGGGTGAGTGACACTAGGCACCTTGTTCTCTCTTTATTCTGGAGGCTATTTTTTCTTCCCAAGTATCATTCCCTTTTGTAAATTTATTCTTAAACTAATCAGATAATTTATTGCCTATAAAGGGTATAACCTCAGGAGCCCAGTCCCAATATTGACTCCACTATCATCTGACTAAATCCTCGACATAATGGTTGATTCTGGTTAAAAGGAAACAACCAGCAATGGTCTTTCAGGAA... | pathogenic | 114,033 |
Is the genetic variant on chromosome 6, position 152430083, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCCACTCTCAGGAATCTTTGCCTTATAACAAAGATCAAGAGTTTCCTACAGTAGACCCACAAGTTCACGTCTTTTGCATCTGGGATAACTACTCCCCATCACTTTAAGAACTGCTAATCCAGAATTTCCTATTTAGTAGTGCAGCAACTCAAGGAAAAGTGCTGCTCACCTCTGCCAGTGGGCCAGCAGATTCTCCAGCGCCGTCTGTCTCTCCTTCGCCCTCCTTAGGATGTCCTCGTATTGCTGCTGTAGAGCCGCAGCCTCCTGAACACAGGAATCTCTGTTCACAACCTTCCTGGCACTGGCTGAGAAGGCAGTG... | CTCCACTCTCAGGAATCTTTGCCTTATAACAAAGATCAAGAGTTTCCTACAGTAGACCCACAAGTTCACGTCTTTTGCATCTGGGATAACTACTCCCCATCACTTTAAGAACTGCTAATCCAGAATTTCCTATTTAGTAGTGCAGCAACTCAAGGAAAAGTGCTGCTCACCTCTGCCAGTGGGCCAGCAGATTCTCCAGCGCCGTCTGTCTCTCCTTCGCCCTCCTTAGGATGTCCTCGTATTGCTGCTGTAGAGCCGCAGCCTCCTGAACACAGGAATCTCTGTTCACAACCTTCCTGGCACTGGCTGAGAAGGCAGTG... | benign | 114,044 |
Gene mutation in SYNE1 (spectrin repeat containing nuclear envelope protein 1) at chromosome 6, position 152433882—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | CATCAATATTTGTTATTTGAGCATTTATACAGGCTTCCTTTGTTTTGCTGTTTTTTAAGATTATATTTTTTAGAAAAATTAATCATAAATTCAAAAAATATAGGTTGTCTACAAAGCACTAATAATTGTTCTAGTTGCTTGTAACACATCGGTGAAACAAACTTAGTTAAGAACCGAGCTCTTAGTTATTAGAGTAATACTTGCCATCAACAAATTCATATATACGAATCACTCAATCATATTGTTGGATTGTGGTAAAAATAAATCCATCCAGGAGAAGAAGATGGAAGACGAACCCAGCATATGTTCTTATCATTTAT... | CATCAATATTTGTTATTTGAGCATTTATACAGGCTTCCTTTGTTTTGCTGTTTTTTAAGATTATATTTTTTAGAAAAATTAATCATAAATTCAAAAAATATAGGTTGTCTACAAAGCACTAATAATTGTTCTAGTTGCTTGTAACACATCGGTGAAACAAACTTAGTTAAGAACCGAGCTCTTAGTTATTAGAGTAATACTTGCCATCAACAAATTCATATATACGAATCACTCAATCATATTGTTGGATTGTGGTAAAAATAAATCCATCCAGGAGAAGAAGATGGAAGACGAACCCAGCATATGTTCTTATCATTTAT... | pathogenic | 114,050 |
For chromosome 6, position 152444591, gene SYNE1 (spectrin repeat containing nuclear envelope protein 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATTCATCTGACATGATTCTTCTTAAATAATTATTTTCTGCTTAAAAACACAAAGTCCCAACTCCAATTTTTAAAAATTATTTATTTTATTAAAATGCAAATATTAAGAGATTTATGGCCAGGGGCGGTGCAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGGCCAAAGCTAGAGGACTGTTTGGGGCCAAAAGCTTGGAACAGTCTGGGCAACATAGCAAGACCCTGTTTCTACAAAAATATTAAAAAATTAGCCAAGTGTGGTGGTACATGCCTGTGGTCCCAGCTACTCGGAAGGCTGAGGTGGGAGGGTCAC... | AATTCATCTGACATGATTCTTCTTAAATAATTATTTTCTGCTTAAAAACACAAAGTCCCAACTCCAATTTTTAAAAATTATTTATTTTATTAAAATGCAAATATTAAGAGATTTATGGCCAGGGGCGGTGCAGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGGCCAAAGCTAGAGGACTGTTTGGGGCCAAAAGCTTGGAACAGTCTGGGCAACATAGCAAGACCCTGTTTCTACAAAAATATTAAAAAATTAGCCAAGTGTGGTGGTACATGCCTGTGGTCCCAGCTACTCGGAAGGCTGAGGTGGGAGGGTCAC... | benign | 114,060 |
A genetic variant on chromosome 6, position 152463508, affects the gene SYNE1 (spectrin repeat containing nuclear envelope protein 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | TAAATTGAGAATCCCAATTAGAAACAAAAGCATCGTTAACAAGTAAACACTTTGCCCATGGGGAGAAGGAGGTAGCAAGCAAGCTGAAGGCACTGTTGGTGTCACACAGCCTATTGTGCATTAAATTATTTTCGCACCTTGGTTAGCTGCTCTTTGAGCTTTGACATGGTCGCAAACATTTCTTTTCCTTCTTCTTGGGGGCTTTCTTTGGTAATGAGGTGTGCTGTCTTTGTAATTATCTTGTATTGGGCATCCATCACAGGCACCCTCTGCTCAATATCCTGCATGAATCATTGAAACAGCCAGATTCATACATGACA... | TAAATTGAGAATCCCAATTAGAAACAAAAGCATCGTTAACAAGTAAACACTTTGCCCATGGGGAGAAGGAGGTAGCAAGCAAGCTGAAGGCACTGTTGGTGTCACACAGCCTATTGTGCATTAAATTATTTTCGCACCTTGGTTAGCTGCTCTTTGAGCTTTGACATGGTCGCAAACATTTCTTTTCCTTCTTCTTGGGGGCTTTCTTTGGTAATGAGGTGTGCTGTCTTTGTAATTATCTTGTATTGGGCATCCATCACAGGCACCCTCTGCTCAATATCCTGCATGAATCATTGAAACAGCCAGATTCATACATGACA... | pathogenic | 114,091 |
Variant in SYNE1 (spectrin repeat containing nuclear envelope protein 1), chromosome 6, position 152471585—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTACAGGTATGTAAGTGTAAAATATTGTCAGGTATGGACCAATATTAAATTGAACTGATATTTATGTGAATTACATTCTTTAGATCACTAAGACGTAAGATACCATATCAATGATTTGGTCTGTTAAGTTAAAAATTTTTTTTACAATTTTTTTTAGATTGTGATATTCAGCACTTAAGCTCAAGGGCTTTTGATTTGGAAAGATATGGATTCAATTTCTGATTCCACAATTTACCACCTGGAGCGTGTGCCGCCAGGAGCAAGTGACTTGAGTCTATGGAACCTCAGTGCTCCTGCACTGGCTCCTTGGTATCTAAAAC... | TTACAGGTATGTAAGTGTAAAATATTGTCAGGTATGGACCAATATTAAATTGAACTGATATTTATGTGAATTACATTCTTTAGATCACTAAGACGTAAGATACCATATCAATGATTTGGTCTGTTAAGTTAAAAATTTTTTTTACAATTTTTTTTAGATTGTGATATTCAGCACTTAAGCTCAAGGGCTTTTGATTTGGAAAGATATGGATTCAATTTCTGATTCCACAATTTACCACCTGGAGCGTGTGCCGCCAGGAGCAAGTGACTTGAGTCTATGGAACCTCAGTGCTCCTGCACTGGCTCCTTGGTATCTAAAAC... | benign | 114,101 |
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