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 NR2E3 (nuclear receptor subfamily 2 group E member 3), chromosome 15, position 71812049—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Enhanced_S-cone_syndrome'] | AAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTG... | AAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTG... | pathogenic | 235,819 |
Benign or pathogenic: chromosome 15, position 71812085, gene NR2E3 (nuclear receptor subfamily 2 group E member 3) variant? Disease(s) if pathogenic? | pathogenic; ['Enhanced_S-cone_syndrome', 'Goldmann-Favre_syndrome', 'NR2E3-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa'] | CCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGG... | CCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGG... | pathogenic | 235,821 |
Variant on chromosome 15, at position 71812136, affecting NR2E3 (nuclear receptor subfamily 2 group E member 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Enhanced_S-cone_syndrome', 'Retinitis_pigmentosa_37'] | AGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACC... | AGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACC... | pathogenic | 235,823 |
A genetic alteration at chromosome 15, position 71812346, in gene NR2E3 (nuclear receptor subfamily 2 group E member 3)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Enhanced_S-cone_syndrome'] | AAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAG... | AAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAG... | pathogenic | 235,824 |
Clinically, how would you classify the variant at chromosome 15, position 71812375, gene NR2E3 (nuclear receptor subfamily 2 group E member 3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Enhanced_S-cone_syndrome'] | GTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGG... | GTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGG... | pathogenic | 235,825 |
Does the variant impacting NR2E3 (nuclear receptor subfamily 2 group E member 3) on chromosome 15, position 71812485, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cone-rod_dystrophy', 'Enhanced_S-cone_syndrome', 'Retinal_dystrophy', 'Retinitis_pigmentosa_37'] | GCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGAC... | GCAGGACTGACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGAC... | pathogenic | 235,829 |
Does the genetic variant at chromosome 15, position 71812494, impacting gene NR2E3 (nuclear receptor subfamily 2 group E member 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Enhanced_S-cone_syndrome'] | ACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTC... | ACCGGCTCCCGGGGCACCTTGGTAATGCTGCAGGTGTGGCCAGTTGATCCCCTGTGGAGACAGTAAAGATTAAGAGGATCATAAACTGCGTCCAGCGGCTGCCCCGGGAGAAATCTCCTCAAGCCAGAGCCTGTGCTGTGAGGGGCTTCGGGACCTTGGGGCAGCTCCTGAGTTCAGACAGAGTTCAGGAAGGGAGACAGGGGCACAGAGAGACAGAGGTTCATGGACTGAGGCAAAGGCTGGGCCAGGCTCAGCAACCCAGGCCTCCCGCAGGCAGGCAGAGGCTGCCCTGTAACCCATGGAGACCAGACCAACAGCTC... | pathogenic | 235,830 |
Benign or pathogenic: chromosome 15, position 71813445, gene NR2E3 (nuclear receptor subfamily 2 group E member 3) variant? Disease(s) if pathogenic? | pathogenic; ['Enhanced_S-cone_syndrome'] | GAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCT... | GAAAGGGACCCGAGGGAAGGAGGGGAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCT... | pathogenic | 235,838 |
Determine if the mutation at chromosome 15, position 71813513 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Enhanced_S-cone_syndrome'] | CTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGG... | CTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGG... | pathogenic | 235,841 |
Is the variant located on chromosome 15 at position 71814009, gene NR2E3 (nuclear receptor subfamily 2 group E member 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Enhanced_S-cone_syndrome', 'Retinal_dystrophy'] | AGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTAC... | AGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTAC... | pathogenic | 235,849 |
Gene NR2E3 (nuclear receptor subfamily 2 group E member 3) variant at chromosome 15, position 71817618—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Leber_congenital_amaurosis', 'Retinal_dystrophy'] | ATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAA... | ATTAAGATTTCCTATGTCCCTTTTATAGCGGTTCATTGCCTACTACAAGGGAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAA... | pathogenic | 235,857 |
Clinical significance of chromosome 15, position 72344117, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tay-Sachs_disease'] | GTCGCACCTGTGCAGGGTCCTTGTCTGCGGACCACCCCTCCTACAAGCTTCTGGGTAATAGAGGTAAGGGGGCTCCTGTGGTGGGTGCCAGTGCTGGGACCTTAACTTGTGTATCTGGGCTATAGCCCTGGACTTGGCTAGGCTGGGCTGTGTGAAAATTCCAAGAATTCTGTTGGTAGAAAATGCCCACCCTGTCCTTACAGGAACAGCACAAGGCTAGGCTTGTCTACCTCCCACCAGGACCTCGAAGGAACATGACCCAGGGGCTGAAGGATGGTGTTGAAGGACCGAGTTTTACTCAGATCCTTCTCAGCCCTGCC... | GTCGCACCTGTGCAGGGTCCTTGTCTGCGGACCACCCCTCCTACAAGCTTCTGGGTAATAGAGGTAAGGGGGCTCCTGTGGTGGGTGCCAGTGCTGGGACCTTAACTTGTGTATCTGGGCTATAGCCCTGGACTTGGCTAGGCTGGGCTGTGTGAAAATTCCAAGAATTCTGTTGGTAGAAAATGCCCACCCTGTCCTTACAGGAACAGCACAAGGCTAGGCTTGTCTACCTCCCACCAGGACCTCGAAGGAACATGACCCAGGGGCTGAAGGATGGTGTTGAAGGACCGAGTTTTACTCAGATCCTTCTCAGCCCTGCC... | pathogenic | 235,914 |
Mutation at chromosome 15, position 72345418, within HEXA (hexosaminidase subunit alpha): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tay-Sachs_disease'] | TGGGCGACAGAGTTTTTGAGACAGTCTCAAAAACAAAAACAACAAAAAAACCCACTACCACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGG... | TGGGCGACAGAGTTTTTGAGACAGTCTCAAAAACAAAAACAACAAAAAAACCCACTACCACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGG... | pathogenic | 235,918 |
Is the genetic change at chromosome 15, position 72345472, within gene HEXA (hexosaminidase subunit alpha) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['HEXA-related_disorder', 'Tay-Sachs_disease'] | CTACCACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCA... | CTACCACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCA... | pathogenic | 235,923 |
Variant in gene HEXA (hexosaminidase subunit alpha), located at chromosome 15 position 72345536: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tay-Sachs_disease'] | AAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGC... | AAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGC... | pathogenic | 235,929 |
Chromosome 15, position 72346215, gene HEXA (hexosaminidase subunit alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAAT... | AGATAAGCCCCTCAGAAGGGGCCCCAGCAACACTTTTCACACCAGTCAACAGTCTCTCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAAT... | benign | 235,936 |
Does the variant on chromosome 15 at location 72346548 affecting gene HEXA (hexosaminidase subunit alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Tay-Sachs_disease'] | TTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCA... | TTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCA... | pathogenic | 235,950 |
Variant at chromosome position 72346579, chromosome 15, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['HEXA-related_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Tay-Sachs_disease', 'Tay-Sachs_disease,_variant_AB'] | TAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCC... | TAAATATGGTGGCACTGGGGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCC... | pathogenic | 235,953 |
Clinical significance of chromosome 15, position 72346598, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tay-Sachs_disease'] | GGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTC... | GGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTC... | pathogenic | 235,955 |
A genetic alteration at chromosome 15, position 72346673, in gene HEXA (hexosaminidase subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Tay-Sachs_disease'] | TCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTT... | TCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTT... | pathogenic | 235,958 |
The mutation impacting HEXA (hexosaminidase subunit alpha) on chromosome 15 at position 72347685: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tay-Sachs_disease'] | GCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGA... | GCACCCTGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGA... | pathogenic | 235,965 |
Clinical classification of chromosome 15, position 72347691, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Tay-Sachs_disease'] | TGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACT... | TGGACTCACTCAGGCCAAAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACT... | pathogenic | 235,966 |
Is the genetic mutation found on chromosome 15 at position 72347708, within the gene HEXA (hexosaminidase subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tay-Sachs_disease'] | AAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGG... | AAGGAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGG... | pathogenic | 235,967 |
Variant at chromosome position 72347717, chromosome 15, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Tay-Sachs_disease'] | ATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTAT... | ATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCTCATTAT... | pathogenic | 235,968 |
Evaluate this variant at chromosome 15, position 72348074, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Tay-Sachs_disease'] | TACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACA... | TACCAAAGGGCAGCTGGAGGGATATAGACGGAAGTCATGTGGAGAGTGAATATTGCACACAAATCTTCAGAAGGCTCGTTGCACGGCCTGCTCTCTCTCAGGCCTGAAAGAAGGGTACTAGTCCAGAGGTGGCTAGATGGGATTGGGTCTCTAAGGGAGAACTCCTGCTCTCAGGCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGCCTGGGGACCAGGTTTGTGTTGTCCACATATTCTCCCCACATACAAGCCTCTCCACCAATCACCAGAGCCTTCTGCTCAGGGGTACCTGAGGGAAAACAAGCAACA... | pathogenic | 235,977 |
Considering the variant on chromosome 15, location 72349134, involving gene HEXA (hexosaminidase subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Tay-Sachs_disease'] | GGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGT... | GGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGT... | pathogenic | 235,984 |
Located at chromosome 15 position 72349147, the variant affecting gene HEXA (hexosaminidase subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Tay-Sachs_disease'] | CAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAG... | CAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAAGCAGTACCCCAACCTCAGCCTCCTGATTTTTGTATTTTTTGTAGAG... | pathogenic | 235,986 |
Clinically, how would you classify the variant at chromosome 15, position 72350579, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Tay-Sachs_disease'] | GACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCA... | GACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGTTTTTTCTATCA... | pathogenic | 235,999 |
A genetic alteration at chromosome 15, position 72353085, in gene HEXA (hexosaminidase subunit alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Tay-Sachs_disease'] | GCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGC... | GCTGGTTAGGATGAGAGACCCTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGC... | pathogenic | 236,011 |
Is the genetic mutation found on chromosome 15 at position 72353172, within the gene HEXA (hexosaminidase subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Tay-Sachs_disease'] | GGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTC... | GGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCAAACCTTCCCATCAGGGAGGGATGGCATGGAGGGAAGGCCCAGCACACTTCTACTTTTC... | pathogenic | 236,019 |
Is chromosome 15, position 72353688, gene HEXA (hexosaminidase subunit alpha) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Tay-Sachs_disease'] | CTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATT... | CTTAGTAGCCTCTTAACTCATAATCTCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATT... | pathogenic | 236,022 |
Determine whether the variant at chromosome 15, position 72353713, in gene HEXA (hexosaminidase subunit alpha) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Tay-Sachs_disease'] | TCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACA... | TCAGAAGCAAAGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACA... | pathogenic | 236,023 |
Clinical classification of chromosome 15, position 72353723, gene HEXA (hexosaminidase subunit alpha): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Tay-Sachs_disease'] | AGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGT... | AGGCTGGCAGATGTGTGGCCTCCTTTGGTTCCGTCACAGGAGCAAAGGAAAAGGCAGACACAGGAACTGGATTGGGAACTGTCAGATAAGACTGCACATTAAACTCAAGAGAGTTAGGAACTTCCCCAGGAAAGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGCTTCTCATGCCTCAGCCTCCTTCCTTCCTTCACTTATTTATTTATTTATTTATTTTTGAGACAGGGTCTCTGT... | pathogenic | 236,024 |
Does the variant impacting HEXA (hexosaminidase subunit alpha) on chromosome 15, position 72375712, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Tay-Sachs_disease'] | CTATGGTGCTATAGCAATGGAGGTGAAGGCCTAATTTAGAAGTATAGGAATTAGGTATGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCT... | CTATGGTGCTATAGCAATGGAGGTGAAGGCCTAATTTAGAAGTATAGGAATTAGGTATGGCGCGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCT... | pathogenic | 236,038 |
Chromosome 15, position 72375911, gene HEXA (hexosaminidase subunit alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tay-Sachs_disease'] | GTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGA... | GTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGA... | pathogenic | 236,051 |
Evaluate the clinical significance of the mutation at chromosome 15, position 72474711 in gene ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACCACTGTACTCCAATCTGGGCAACAGAGCGAGACTCCGTCTCAAGAAAAAAACAAACAACAACAACAACAACAAAAACCTAGACTACCAGTATTGAGGTTAAATGCTTTACTTTGTAAATCCTGAGGTTAAGAAATATAATTATCGGTATTTTAAAACTTACAAAATGGACAAATTGGAAGAGGCTTTTTAACATTATAATGGAATTTTTCACTTTTCAAAATCAATTTCC... | GCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCTGAGATCACCACTGTACTCCAATCTGGGCAACAGAGCGAGACTCCGTCTCAAGAAAAAAACAAACAACAACAACAACAACAAAAACCTAGACTACCAGTATTGAGGTTAAATGCTTTACTTTGTAAATCCTGAGGTTAAGAAATATAATTATCGGTATTTTAAAACTTACAAAATGGACAAATTGGAAGAGGCTTTTTAACATTATAATGGAATTTTTCACTTTTCAAAATCAATTTCC... | benign | 236,060 |
Does the variant impacting ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1) on chromosome 15, position 72474873, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAACCTAGACTACCAGTATTGAGGTTAAATGCTTTACTTTGTAAATCCTGAGGTTAAGAAATATAATTATCGGTATTTTAAAACTTACAAAATGGACAAATTGGAAGAGGCTTTTTAACATTATAATGGAATTTTTCACTTTTCAAAATCAATTTCCAAAGGGAACCTATAGGTTGAACAGTAAGATTTATCAACAAATCAGGGGTTTTGATTTTAAAAGGTTTTCAATCTGGCCAATTCTTCAGATTATCTCAAGAGGGAGCCTTCTTATGCCTCTTCTTCCTTCATAACACTTCTCTGGCTCGCATGTCCTGTTTGC... | AAAACCTAGACTACCAGTATTGAGGTTAAATGCTTTACTTTGTAAATCCTGAGGTTAAGAAATATAATTATCGGTATTTTAAAACTTACAAAATGGACAAATTGGAAGAGGCTTTTTAACATTATAATGGAATTTTTCACTTTTCAAAATCAATTTCCAAAGGGAACCTATAGGTTGAACAGTAAGATTTATCAACAAATCAGGGGTTTTGATTTTAAAAGGTTTTCAATCTGGCCAATTCTTCAGATTATCTCAAGAGGGAGCCTTCTTATGCCTCTTCTTCCTTCATAACACTTCTCTGGCTCGCATGTCCTGTTTGC... | benign | 236,061 |
Is the genetic variant on chromosome 15, position 72695245, gene BBS4 (Bardet-Biedl syndrome 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACACCACAAATTATGCTTTTTGTTTGTTTTATTCAGTCAGTAGATGCTTAGAATACTTGCTTATTTTACCAATTCCTTTGCTTATTCCACTCCTTTGTTCTGGGATTATTTTTCTTTTTCCTAATATATTTTCATTAAAAGTTTATTTGGTGAGAATCTAAAAACTCTCAAATTCTGAAAGTTTTAAAAATTTGCCTTTGTTGTTGAAAATTAGTTTTGATGGGTGAGAGAATCTAGATCAGGTGTTAGCAAACCTTTTTTTGTAAAGGGCCAGATAGTAAATATTGTGGGCTTTGTGGGCCATAGAGTCTCTCTGACAA... | ACACCACAAATTATGCTTTTTGTTTGTTTTATTCAGTCAGTAGATGCTTAGAATACTTGCTTATTTTACCAATTCCTTTGCTTATTCCACTCCTTTGTTCTGGGATTATTTTTCTTTTTCCTAATATATTTTCATTAAAAGTTTATTTGGTGAGAATCTAAAAACTCTCAAATTCTGAAAGTTTTAAAAATTTGCCTTTGTTGTTGAAAATTAGTTTTGATGGGTGAGAGAATCTAGATCAGGTGTTAGCAAACCTTTTTTTGTAAAGGGCCAGATAGTAAATATTGTGGGCTTTGTGGGCCATAGAGTCTCTCTGACAA... | benign | 236,079 |
Does the variant impacting BBS4 (Bardet-Biedl syndrome 4) on chromosome 15, position 72709707, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | TAATTCTGTTCTTCCCTCTTCCTTCCTTGAGATCTTCACTATTCTTGGGTTAATTTGGATCTTTCTACTCCTTGTTACCACAGAAAAGTAATTCTTAATGAATTTGACCATATTTTAAACTTCTGATTTCAGTGGGCAGGTAACTCATTTTATGGTTTCTGTATTGTGAGCCATTTTCAATGACTCAACTAGATTTTTTTCATCGTTGACTTCTCATTTCTGGGCAACAGCATAATGTTCTCATTTGAGCTATTTCTAAAGATTGTGTTTAACTATTTAAAATATTTGTGGTACTCTGATCATCAGATGTGATTTTTTTT... | TAATTCTGTTCTTCCCTCTTCCTTCCTTGAGATCTTCACTATTCTTGGGTTAATTTGGATCTTTCTACTCCTTGTTACCACAGAAAAGTAATTCTTAATGAATTTGACCATATTTTAAACTTCTGATTTCAGTGGGCAGGTAACTCATTTTATGGTTTCTGTATTGTGAGCCATTTTCAATGACTCAACTAGATTTTTTTCATCGTTGACTTCTCATTTCTGGGCAACAGCATAATGTTCTCATTTGAGCTATTTCTAAAGATTGTGTTTAACTATTTAAAATATTTGTGGTACTCTGATCATCAGATGTGATTTTTTTT... | pathogenic | 236,082 |
Regarding the variant at chromosome 15 and position 72712292, affecting gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Bardet-Biedl_syndrome_4'] | AGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAAC... | AGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAAC... | pathogenic | 236,089 |
Mutation at chromosome 15, position 72715345, within BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | CCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCAT... | CCATCTAAGGTCTTTGTGACACACACACACACACACACACACACACACACACACGCACACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCAT... | pathogenic | 236,091 |
For chromosome 15, position 72715403, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Bardet-Biedl_syndrome_4'] | ACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTG... | ACGCACGCACGCACTGGTCTAGGCCTACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTG... | pathogenic | 236,092 |
Evaluate this variant at chromosome 15, position 72715428, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTA... | TACACTGAGTCAAGATTATAAATATCACTGTCTTCCACCTCCTTATGGAAGGTCTTCAGTGGCAATAACATACATGGAGCTGTCATCTCCTATAACAATAGGAATACCTTCTGGAATACCTCCTGAAGGATCTGCCTGAGGCAGTTATTCTTTTTTTTAGTAAGTGGAAGGAGTACACTCTAAAATAAAGATTAAAATGTATAGCGTAGTAAATACATAAACCAGTAATGTAGTCATTTATTATCAAGTATTAAGTTCTATATATATGTAATTGTATATGCTGTACTTCTATGTGACTGGCAGCACAGTAGGTTTGTTTA... | benign | 236,093 |
Clinically, how would you classify the variant at chromosome 15, position 72716782, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['BBS4-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | GTCACAAGTATCAGACTTTCAGTGCCTGATAAATTCTTCTGGAAACATAGGCCTAGGAAAAACCTCTGGTTCTAATTGGTTGTTACACTGACAACTGAAGTCTTAAATGTTACTTTATCCTTTGCCAGAATCTCCATGTTGAATTTGAGGTATTGATTCCATTTGCCCCATTTGGGGGTTCGCTCTGAAAACTATCAGTTGGAAGTAAATTATGATAAATGAAGCATCTGATGGGGAAGCCCCAAAATGTTGTTAATGTGAAGAGTTTGTGTGATAATTTGCAAAGGAACTGATTATCTATGTGATGGATCCTGGGAGTA... | GTCACAAGTATCAGACTTTCAGTGCCTGATAAATTCTTCTGGAAACATAGGCCTAGGAAAAACCTCTGGTTCTAATTGGTTGTTACACTGACAACTGAAGTCTTAAATGTTACTTTATCCTTTGCCAGAATCTCCATGTTGAATTTGAGGTATTGATTCCATTTGCCCCATTTGGGGGTTCGCTCTGAAAACTATCAGTTGGAAGTAAATTATGATAAATGAAGCATCTGATGGGGAAGCCCCAAAATGTTGTTAATGTGAAGAGTTTGTGTGATAATTTGCAAAGGAACTGATTATCTATGTGATGGATCCTGGGAGTA... | pathogenic | 236,095 |
Evaluate this variant at chromosome 15, position 72724581, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['BBS4-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | GTGCCCCAGGGTTCCCCATAGATCCAGGAAGATCACCTGTTTATTCTGCTTTTATTTCTTATAATCTGTATTTTTTTATGTTGAGGAACTTATTTTTAACAATTAATTTGAGTATGAACTCTAATAAAAAGCTGACTGTAATGCATAGTTTAAAGTTTAAACCTTGCCGAGCAATAACAATCTCTAGATGTCTGTTGTTTCACTCTAATACTTACTGTGGAATTACACCTGAGTTGTTTTCCTTCTTTTTTATGAGCCTAGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGTAAT... | GTGCCCCAGGGTTCCCCATAGATCCAGGAAGATCACCTGTTTATTCTGCTTTTATTTCTTATAATCTGTATTTTTTTATGTTGAGGAACTTATTTTTAACAATTAATTTGAGTATGAACTCTAATAAAAAGCTGACTGTAATGCATAGTTTAAAGTTTAAACCTTGCCGAGCAATAACAATCTCTAGATGTCTGTTGTTTCACTCTAATACTTACTGTGGAATTACACCTGAGTTGTTTTCCTTCTTTTTTATGAGCCTAGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGTAAT... | pathogenic | 236,101 |
Chromosome 15, position 72727967, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['BBS4-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | CCCTTCCCCCTTTCCCCTTCCCCCTTTCCCCTTCCTCCTTTCCCTTCCCCCTTTCCCCTTTTCCCATCTCCCTTCCCCTTTCCCCTCCCTCTCTCCCTTCCTTCCTTTTTCTCTCTTTTCTTTCCATCCTTTCCCTCCCTCCCATTCCCATCTTTCTTTGTTTCTTTCTTTTCTTCCTTTCTTCCTTCCTTTCTTTCCTTCCTTTCATTTATTTCAACAGTCTCGCTCTGTCGCCCAGGGGTGAGTGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGA... | CCCTTCCCCCTTTCCCCTTCCCCCTTTCCCCTTCCTCCTTTCCCTTCCCCCTTTCCCCTTTTCCCATCTCCCTTCCCCTTTCCCCTCCCTCTCTCCCTTCCTTCCTTTTTCTCTCTTTTCTTTCCATCCTTTCCCTCCCTCCCATTCCCATCTTTCTTTGTTTCTTTCTTTTCTTCCTTTCTTCCTTCCTTTCTTTCCTTCCTTTCATTTATTTCAACAGTCTCGCTCTGTCGCCCAGGGGTGAGTGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGA... | pathogenic | 236,102 |
Chromosome 15, position 72728003, gene BBS4 (Bardet-Biedl syndrome 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTTTCCCTTCCCCCTTTCCCCTTTTCCCATCTCCCTTCCCCTTTCCCCTCCCTCTCTCCCTTCCTTCCTTTTTCTCTCTTTTCTTTCCATCCTTTCCCTCCCTCCCATTCCCATCTTTCTTTGTTTCTTTCTTTTCTTCCTTTCTTCCTTCCTTTCTTTCCTTCCTTTCATTTATTTCAACAGTCTCGCTCTGTCGCCCAGGGGTGAGTGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTGCACGAGCACGCCACCACCCCTGG... | CCTTTCCCTTCCCCCTTTCCCCTTTTCCCATCTCCCTTCCCCTTTCCCCTCCCTCTCTCCCTTCCTTCCTTTTTCTCTCTTTTCTTTCCATCCTTTCCCTCCCTCCCATTCCCATCTTTCTTTGTTTCTTTCTTTTCTTCCTTTCTTCCTTCCTTTCTTTCCTTCCTTTCATTTATTTCAACAGTCTCGCTCTGTCGCCCAGGGGTGAGTGCAGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTGCACGAGCACGCCACCACCCCTGG... | benign | 236,106 |
A genetic variant on chromosome 15, position 72731368, affects the gene BBS4 (Bardet-Biedl syndrome 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4', 'Retinitis_pigmentosa'] | GGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGGTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTT... | GGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGGTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTT... | pathogenic | 236,115 |
Variant chromosome 15, position 72731616, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | TGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTAT... | TGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGTCAAGTATGCTCTACTTATCTTCTAAAAGTGCACATTTGTTAT... | pathogenic | 236,119 |
Mutation found at chromosome 15 position 72735147, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome_4', 'Retinal_dystrophy'] | CTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAAT... | CTGACTGTGGGAGGGACAGTCTCCCCAGGGTCAGTAAGGCCCCAGATGTCAAAACATCAGAATAAAAAGGCTAAAGTGGGGTGTGATGGTACATACCTGTAGTGCTGGCTACTTGGGAGGCTAAGGCAGGAAGTTTGCTTAAGCCCAGGAGTTGGGAGTACAGCCTGGGCAACACAGTGAGACTCCATTCCTCTCTCTTTTTTTAAAAATTTTATTTTAGGTTCAGGGGTACATGTGCATCCTGTTACACAGGCACGTGTGTCATGGGGATTAGTTGTACAGATTATTTCATCACCCAGGTACTAAGCCTAGTACCCAAT... | pathogenic | 236,125 |
Mutation found at chromosome 15 position 72735851, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | TGGGTCGAAGGGTAGTTGTATTTTTAGCTCTTTGGGGAATTGCCAGATTGCTTTCCACAATGGTTGAACTAATTTACACTCCCATCAACAGTGTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAA... | TGGGTCGAAGGGTAGTTGTATTTTTAGCTCTTTGGGGAATTGCCAGATTGCTTTCCACAATGGTTGAACTAATTTACACTCCCATCAACAGTGTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAA... | pathogenic | 236,129 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 72735939, gene BBS4 (Bardet-Biedl syndrome 4): what disease(s) if pathogenic? | benign | CAGTGTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTG... | CAGTGTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTG... | benign | 236,132 |
Variant at chromosome 15, position 72735943, gene BBS4 (Bardet-Biedl syndrome 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | GTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTGTGTT... | GTATAAGCATTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTGTGTT... | pathogenic | 236,133 |
A genetic alteration at chromosome 15, position 72735952, in gene BBS4 (Bardet-Biedl syndrome 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | TTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTGTGTTGATAGTTTC... | TTCCCTTTTCTCTGCAGCCTCACCAGGATGTTATATTTTGAGTTTTTAATAATAGCCATTTTGACTGGTGTGAGATGGTTATCTCACTGTGGTTTCAATTTGCATTTCTCTAATCAGTGATAGAGTTTTTCATATGCTTGTTGGCTGCATACATGACTTCTTTTGAAGTGTCTGTTTATGTCCTTTGCCCATTTTAATGGGATTGTATTCTTCTTGTAAATTTGCTTAAGTTCCTTATAGATCCTGGATATTAGACCTGCATGGTTTGCAAATATTTTCTCCCATTTTGTACATTGTCTGTTTACTGTGTTGATAGTTTC... | pathogenic | 236,134 |
Does the variant impacting BBS4 (Bardet-Biedl syndrome 4) on chromosome 15, position 72736803, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BBS4-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | CTAAGTAGGATGGTAATGTGGTCAGATTTGTAAGGCAGTGAGATACCTGGCAGCGCTGTGGAAGGTGGAATGGAGGCAGGTGGGGACTTTGACACTGGGGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTA... | CTAAGTAGGATGGTAATGTGGTCAGATTTGTAAGGCAGTGAGATACCTGGCAGCGCTGTGGAAGGTGGAATGGAGGCAGGTGGGGACTTTGACACTGGGGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTA... | pathogenic | 236,142 |
Benign or pathogenic: chromosome 15, position 72736829, gene BBS4 (Bardet-Biedl syndrome 4) variant? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | TTTGTAAGGCAGTGAGATACCTGGCAGCGCTGTGGAAGGTGGAATGGAGGCAGGTGGGGACTTTGACACTGGGGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTT... | TTTGTAAGGCAGTGAGATACCTGGCAGCGCTGTGGAAGGTGGAATGGAGGCAGGTGGGGACTTTGACACTGGGGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTT... | pathogenic | 236,144 |
Mutation found at chromosome 15 position 72736901, gene BBS4 (Bardet-Biedl syndrome 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_4'] | GGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTTTCTTTGTTGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCC... | GGAATAAATGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTTTCTTTGTTGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCC... | pathogenic | 236,146 |
Gene mutation in BBS4 (Bardet-Biedl syndrome 4) at chromosome 15, position 72736909—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_4'] | TGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTTTCTTTGTTGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGAT... | TGGAAAGCCTAAAACTACTTGGGCCTGAACAAGGGCAGTGTCAGAAAAGAAACTGCAAAAAAAGGATGCATAGAACCTGGCAACTGATTGACTGTAGAAGAGATGGTTGAAGATAGCACCAGGTATCTAAGCTGACTTAGTAAACTCTGGTGCCATGAGCTGACAGGGTGAAGTTTACTTTGGGGGTAGTCTTTAATACTCCTTTTGTCTTCTAAGCTGAGCTCTCCAGCTGCAGTGCTTTCTTTGTTGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGAT... | pathogenic | 236,147 |
Classify the chromosome 15 variant at position 73325458 affecting gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTG... | GTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGAGGGCAGGAGTGGGCTCAGTCCAGCGGGGGCAGAGAATCCAGCCAGCTGTTGGATGTGGAAGGAGGATGAAGACGGTGTGTCCACCTGGGACGGGCTGCTGGCGGGCGAGGCGGAGCCCAGCGCAGAAGGGATCAGGGACTGCAGCCGTTTCAGGTGCCTTGGCGTCTGCCCGGCACCGAGGTTGCCCAGCCCAGATCCTGGGGGAGGGCGGAAGATGGCAGCAGGCAGGCGAGGGTGGTGGGTGAGGGCTATGGCCACAGAAGTG... | benign | 236,337 |
Chromosome 15, position 73343822, gene HCN4: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCC... | CCAAGCCAAAGAGAATTTCTGCCATGGAGGGACGCTGCCAAACTGGTGCACACACTTCTCCTATGGCACATGCGTTCATGACGCCTCTGACCATCAGCCATAGGTGCTGCCAGTCGAGGCCCAGGCTGCTGCTGGGGGTGAGCATGGGGGGCTTCATGTCCTGAACATGGGAACTTCTGCCAGGCAAGCAGGGGGTCCTGGAGGCTGGGAAGTCAGCCACGCGGCACAGGGATGGAGCGGGAAATGGCCCTCCATGGAAGCTTGTCCCGCCCACAGGTGGCAGGGATCCAAGGTGGGCTGTCTCACAGAGAGAGTAGGCC... | benign | 236,389 |
The chromosome 15, position 73367475 genetic variant in gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CCTGTTGCCCATTTCACAATTCTGCTGTATCCCCGCTTCCCTATCCCCACACCCTCTCCTGCAGCCATGTCCCAGGCAGCCTGCAGTTAGTGGGAGATTCTGCAGCAGGGGGACTGCAGACAGACATACCAGAATGGGGTAAGACCAGGAAGGGGAAAAGGATCCTATCTGATGAAATCAACCCAGTCCTCACTCTCCAACTTCTAAGGTAAGGGAGATAGGAAGGGCCAGGCCCAGCATCCAGAAGGTCCCCGGCCAATGCTTGCTGCTGAGGGAGGCTGGGCATGCCTGGGGTTGGCCTCTTGTAGGCTCCCCAGGCA... | CCTGTTGCCCATTTCACAATTCTGCTGTATCCCCGCTTCCCTATCCCCACACCCTCTCCTGCAGCCATGTCCCAGGCAGCCTGCAGTTAGTGGGAGATTCTGCAGCAGGGGGACTGCAGACAGACATACCAGAATGGGGTAAGACCAGGAAGGGGAAAAGGATCCTATCTGATGAAATCAACCCAGTCCTCACTCTCCAACTTCTAAGGTAAGGGAGATAGGAAGGGCCAGGCCCAGCATCCAGAAGGTCCCCGGCCAATGCTTGCTGCTGAGGGAGGCTGGGCATGCCTGGGGTTGGCCTCTTGTAGGCTCCCCAGGCA... | benign | 236,392 |
Gene mutation in STRA6 (signaling receptor and transporter of retinol STRA6) at chromosome 15, position 74182375—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | AAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGG... | AAAATCCCAGGCGTGTGCAGGTCGTGAGGCTTAGGATGTCCCCTGCAGGCAGCACATGGAAGTGGGGGGTGAGGTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGG... | pathogenic | 236,496 |
Gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) variant at chromosome position 74343131 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CYP11A1-related_disorder', 'Congenital_adrenal_insufficiency_with_46,_XY_sex_reversal_OR_46,XY_disorder_of_sex_development-adrenal_insufficiency_due_to_CYP11A1_deficiency'] | TGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACA... | TGTGTGACCTCGACCAAGTTATTTAACCTCTCTGTGCTCTACTTTCCTCATCTGAAAAAGGGGGATGATGGTAACATACCTTAGAGGGTTGTTTGTGAGTATTAAATGAGGTAACATATGTAAACAGCTTAGGACCCTGCCTGCCATATAGTATGTGCTTAATAAATGTGACCTCACAGTAATCGTTTCTTTGGTGCCGGTGAGTGATTTTTGAAGATCTCTTCTACGTAATAGACAATGAACTATGTTTAAGGTATGCTCAAAGGCTCCATTTGCAGTCTGTCTCAGGGATGGAAACTCCTTCATCAGAGTGTAACACA... | pathogenic | 236,549 |
Variant in CYP11A1 (cytochrome P450 family 11 subfamily A member 1), chromosome 15, position 74345159—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Congenital_adrenal_insufficiency_with_46,_XY_sex_reversal_OR_46,XY_disorder_of_sex_development-adrenal_insufficiency_due_to_CYP11A1_deficiency'] | AGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGC... | AGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACATAGTCACTTGCCCAAGGTCACATGGCTGTAAGGGGCAGAGGTGGGATTTGACTCTGC... | pathogenic | 236,559 |
Variant at chromosome 15, position 74347966, gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_adrenal_insufficiency_with_46,_XY_sex_reversal_OR_46,XY_disorder_of_sex_development-adrenal_insufficiency_due_to_CYP11A1_deficiency'] | TGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCC... | TGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCATCTATAATCCC... | pathogenic | 236,564 |
Considering the variant on chromosome 15, location 74367383, involving gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_adrenal_insufficiency_with_46,_XY_sex_reversal_OR_46,XY_disorder_of_sex_development-adrenal_insufficiency_due_to_CYP11A1_deficiency'] | CCTCCTAGCAGGAAGCAAGCCCGATTCTTGGGAAAGGGAAGGGACAGACTCAGAGCCTCAGGGCCAAGGGGTGAGATCCAGCACCCCAGCAGGACAGGAATCTAGCTGGGTGACCTCTCTGAGCCTCAGTCTCCTCCTCTGACCATGGGGACAACAAACTTCGCTTGCAAGGTGTGCGGAGGGTAACGGATGTAGGGAGGCATTTAGTAGGGCTTGTTCTCTAACCACCTCTCTCCGAGAGTTTCAAAGGGAGTGGGATCTGGGGAAGGTTGAGGCCTCAGGCCTGGGAACTAGGAATACTTTCCCTTTTACCCACCACC... | CCTCCTAGCAGGAAGCAAGCCCGATTCTTGGGAAAGGGAAGGGACAGACTCAGAGCCTCAGGGCCAAGGGGTGAGATCCAGCACCCCAGCAGGACAGGAATCTAGCTGGGTGACCTCTCTGAGCCTCAGTCTCCTCCTCTGACCATGGGGACAACAAACTTCGCTTGCAAGGTGTGCGGAGGGTAACGGATGTAGGGAGGCATTTAGTAGGGCTTGTTCTCTAACCACCTCTCTCCGAGAGTTTCAAAGGGAGTGGGATCTGGGGAAGGTTGAGGCCTCAGGCCTGGGAACTAGGAATACTTTCCCTTTTACCCACCACC... | pathogenic | 236,570 |
Does the variant impacting SIN3A (SIN3 transcription regulator family member A) on chromosome 15, position 75392245, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['SIN3A-related_intellectual_disability_syndrome_due_to_a_point_mutation'] | TCCTCACATGGGTCACTTGCTCATAAAGCTATTTCAATGAAGCATAAAGTACAGATGAGGAAAGGCAGACACAGCCATACTCCAGCACTGGGAAACCTCTTGGGAACACAAAAATAGGAGTGCAAATTAAATCCTTTATGAATAATGAAGTAATCTGCATTTGTCAAAGTCCTTTTGTTTAAAAATGGATTCGCTACGTTGTATTTCACAAATTGCATTAAATCATCTGTAGTTGCTGCACATGAATCATTTCAATCACTAGCTAGAATAAATCTCATCAGTTGTTAAAGACATTTGGCAACTAGCAGAGGGCACAAGGA... | TCCTCACATGGGTCACTTGCTCATAAAGCTATTTCAATGAAGCATAAAGTACAGATGAGGAAAGGCAGACACAGCCATACTCCAGCACTGGGAAACCTCTTGGGAACACAAAAATAGGAGTGCAAATTAAATCCTTTATGAATAATGAAGTAATCTGCATTTGTCAAAGTCCTTTTGTTTAAAAATGGATTCGCTACGTTGTATTTCACAAATTGCATTAAATCATCTGTAGTTGCTGCACATGAATCATTTCAATCACTAGCTAGAATAAATCTCATCAGTTGTTAAAGACATTTGGCAACTAGCAGAGGGCACAAGGA... | pathogenic | 236,669 |
The genetic variant at chromosome 15, position 75392282, affecting gene SIN3A (SIN3 transcription regulator family member A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['SIN3A-related_intellectual_disability_syndrome_due_to_a_point_mutation'] | TGAAGCATAAAGTACAGATGAGGAAAGGCAGACACAGCCATACTCCAGCACTGGGAAACCTCTTGGGAACACAAAAATAGGAGTGCAAATTAAATCCTTTATGAATAATGAAGTAATCTGCATTTGTCAAAGTCCTTTTGTTTAAAAATGGATTCGCTACGTTGTATTTCACAAATTGCATTAAATCATCTGTAGTTGCTGCACATGAATCATTTCAATCACTAGCTAGAATAAATCTCATCAGTTGTTAAAGACATTTGGCAACTAGCAGAGGGCACAAGGAGTATTAAAGAGTGCTGCCTTTAGCTTACTAAAGACCC... | TGAAGCATAAAGTACAGATGAGGAAAGGCAGACACAGCCATACTCCAGCACTGGGAAACCTCTTGGGAACACAAAAATAGGAGTGCAAATTAAATCCTTTATGAATAATGAAGTAATCTGCATTTGTCAAAGTCCTTTTGTTTAAAAATGGATTCGCTACGTTGTATTTCACAAATTGCATTAAATCATCTGTAGTTGCTGCACATGAATCATTTCAATCACTAGCTAGAATAAATCTCATCAGTTGTTAAAGACATTTGGCAACTAGCAGAGGGCACAAGGAGTATTAAAGAGTGCTGCCTTTAGCTTACTAAAGACCC... | pathogenic | 236,670 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 76231381, gene ETFA (electron transfer flavoprotein subunit alpha): what disease(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TCTTAATAAACATCTGTTGACTAGATGGAGATACAAAGTCTTGGCTGACCCCCAACACCAGTCTCCTTACTTCAACTGTTCCCTATTTGCTCTGACGTACACTACCTAGTGTCTCTCCCACAATCCAGCCCTGTTGGCATGGGGTGAGAATTTTCACTGGTATCTTCTTGACAGGCAGAATCTTTTATTTTTAGAGAAGCAGAATTCTAGCTATGTCTGAACTGGTCTGGCTAAAAATATACTTTAAGGCTGCTGGTGTTGGAGTTTCTTTCTTTTATTTATTTATTTTTTCTTAATGCAGCAATCACATTTTCCCCATT... | TCTTAATAAACATCTGTTGACTAGATGGAGATACAAAGTCTTGGCTGACCCCCAACACCAGTCTCCTTACTTCAACTGTTCCCTATTTGCTCTGACGTACACTACCTAGTGTCTCTCCCACAATCCAGCCCTGTTGGCATGGGGTGAGAATTTTCACTGGTATCTTCTTGACAGGCAGAATCTTTTATTTTTAGAGAAGCAGAATTCTAGCTATGTCTGAACTGGTCTGGCTAAAAATATACTTTAAGGCTGCTGGTGTTGGAGTTTCTTTCTTTTATTTATTTATTTTTTCTTAATGCAGCAATCACATTTTCCCCATT... | pathogenic | 236,704 |
The chromosome 15, position 76283796 genetic variant in gene ETFA (electron transfer flavoprotein subunit alpha): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | AATGGCCCCTCCAATGATATATTCACATCCTAATACCCAGAACCTGTGAATATTACCTACGTGGCAGCAGATATATATAAAGCTAAGGATCTTGAGAGGGAGTTTATCCTGGATTATCTACATGGGCCCTAAATGCCATTACACGTATCCTTTTTTTTTTTTTTTTTTTTTTTCCAGACGGCATCTCACTCTGTTACCCAGGCTGGAGTACAGTGGCACAGTCTCAGCTTACTGCAACCTCCGCCTTCTAGGTTCAAGGAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGTGTGCACCACCACATCAAAC... | AATGGCCCCTCCAATGATATATTCACATCCTAATACCCAGAACCTGTGAATATTACCTACGTGGCAGCAGATATATATAAAGCTAAGGATCTTGAGAGGGAGTTTATCCTGGATTATCTACATGGGCCCTAAATGCCATTACACGTATCCTTTTTTTTTTTTTTTTTTTTTTTCCAGACGGCATCTCACTCTGTTACCCAGGCTGGAGTACAGTGGCACAGTCTCAGCTTACTGCAACCTCCGCCTTCTAGGTTCAAGGAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGTGTGCACCACCACATCAAAC... | pathogenic | 236,713 |
Is the chromosome 15, position 76285675 variant in ETFA (electron transfer flavoprotein subunit alpha) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | AGAAAAACTGAAAAATCCGGAAAAGTAAAATAATTTGTAGGGCTGAAAGACTTACACAAAAATGAAATAATGAAGAAAAAATATTTCCAACAAAAAGGGAATATCTTTCTACTAAGGAAAATAACTTTACCTGCAGCATGTAGTTGATCTGCCAAGTCATATAACAACTTAAAGTTCTCTCCACTCTTCAAGCCTCGACCTCATTTAAAAAGATGAAAAAAAAAAATTAGGCAAACATCAAATACATTCTGGAACAATTTTGCTATTTTATATACTGGAGTAAATTTTCATATTATGTAACTGCCATATTAAGCATGTCA... | AGAAAAACTGAAAAATCCGGAAAAGTAAAATAATTTGTAGGGCTGAAAGACTTACACAAAAATGAAATAATGAAGAAAAAATATTTCCAACAAAAAGGGAATATCTTTCTACTAAGGAAAATAACTTTACCTGCAGCATGTAGTTGATCTGCCAAGTCATATAACAACTTAAAGTTCTCTCCACTCTTCAAGCCTCGACCTCATTTAAAAAGATGAAAAAAAAAAATTAGGCAAACATCAAATACATTCTGGAACAATTTTGCTATTTTATATACTGGAGTAAATTTTCATATTATGTAACTGCCATATTAAGCATGTCA... | pathogenic | 236,716 |
The mutation in gene ETFA (electron transfer flavoprotein subunit alpha) at chromosome 15, position 76285676—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | GAAAAACTGAAAAATCCGGAAAAGTAAAATAATTTGTAGGGCTGAAAGACTTACACAAAAATGAAATAATGAAGAAAAAATATTTCCAACAAAAAGGGAATATCTTTCTACTAAGGAAAATAACTTTACCTGCAGCATGTAGTTGATCTGCCAAGTCATATAACAACTTAAAGTTCTCTCCACTCTTCAAGCCTCGACCTCATTTAAAAAGATGAAAAAAAAAAATTAGGCAAACATCAAATACATTCTGGAACAATTTTGCTATTTTATATACTGGAGTAAATTTTCATATTATGTAACTGCCATATTAAGCATGTCAC... | GAAAAACTGAAAAATCCGGAAAAGTAAAATAATTTGTAGGGCTGAAAGACTTACACAAAAATGAAATAATGAAGAAAAAATATTTCCAACAAAAAGGGAATATCTTTCTACTAAGGAAAATAACTTTACCTGCAGCATGTAGTTGATCTGCCAAGTCATATAACAACTTAAAGTTCTCTCCACTCTTCAAGCCTCGACCTCATTTAAAAAGATGAAAAAAAAAAATTAGGCAAACATCAAATACATTCTGGAACAATTTTGCTATTTTATATACTGGAGTAAATTTTCATATTATGTAACTGCCATATTAAGCATGTCAC... | pathogenic | 236,718 |
Considering the genetic mutation at chromosome 15, position 76286436, impacting ETFA (electron transfer flavoprotein subunit alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['ETFA-related_disorder', 'Multiple_acyl-CoA_dehydrogenase_deficiency'] | GCTGAAGTGGGCGGATCACCTGAGGTCAGGATTTCGAGACCAGCCTGACCAACATGCAGAACCTCCGTCTCTACTAAAAATACAAAATTATTATTTTTATTTATTTATTTATTTATTTTTTAGGAGGAGTTTCACTCTTGTTGCCCAGGCTGAAATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACTGGCATCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGG... | GCTGAAGTGGGCGGATCACCTGAGGTCAGGATTTCGAGACCAGCCTGACCAACATGCAGAACCTCCGTCTCTACTAAAAATACAAAATTATTATTTTTATTTATTTATTTATTTATTTTTTAGGAGGAGTTTCACTCTTGTTGCCCAGGCTGAAATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACTGGCATCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGG... | pathogenic | 236,723 |
Evaluate if the mutation on chromosome 15 at position 76286491 in ETFA (electron transfer flavoprotein subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCAGAACCTCCGTCTCTACTAAAAATACAAAATTATTATTTTTATTTATTTATTTATTTATTTTTTAGGAGGAGTTTCACTCTTGTTGCCCAGGCTGAAATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACTGGCATCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACACTTGACCTCGGGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGA... | GCAGAACCTCCGTCTCTACTAAAAATACAAAATTATTATTTTTATTTATTTATTTATTTATTTTTTAGGAGGAGTTTCACTCTTGTTGCCCAGGCTGAAATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGCTGGGACTACTGGCATCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACACTTGACCTCGGGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGA... | benign | 236,726 |
Considering the variant on chromosome 15, location 76287924, involving gene ETFA (electron transfer flavoprotein subunit alpha), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | AATTCTCTCTGATAATGGAAAGACTTAAGGAGACTAGATTCCAGCCTTTGCCACATTAGCTGTATGACTCCAGAAATCATTCAATTCTCTGAGTCTGAATATAGAATAACTTTCTTTCTATGAGGTTCAAATAAGACACTATATATGTTAAAGTGTGACACCCTCCACACGTTTCCTATTACATTCTTCTGTTATACTGAATCACCCAAATATAATAGGAAACAGTGACAAGAGTAAAAAAGCTTAATCTTAATAGATCCTCTGTCTCCCACTCCCTTGATCTACCAAAGCAACTATCCTAGTACCAAAGATAATGTGAA... | AATTCTCTCTGATAATGGAAAGACTTAAGGAGACTAGATTCCAGCCTTTGCCACATTAGCTGTATGACTCCAGAAATCATTCAATTCTCTGAGTCTGAATATAGAATAACTTTCTTTCTATGAGGTTCAAATAAGACACTATATATGTTAAAGTGTGACACCCTCCACACGTTTCCTATTACATTCTTCTGTTATACTGAATCACCCAAATATAATAGGAAACAGTGACAAGAGTAAAAAAGCTTAATCTTAATAGATCCTCTGTCTCCCACTCCCTTGATCTACCAAAGCAACTATCCTAGTACCAAAGATAATGTGAA... | pathogenic | 236,730 |
Determine if the mutation at chromosome 15, position 76292456 in gene ETFA (electron transfer flavoprotein subunit alpha) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | AATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACA... | AATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACA... | pathogenic | 236,732 |
Is the chromosome 15, position 76292459 variant in ETFA (electron transfer flavoprotein subunit alpha) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGT... | CTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGT... | pathogenic | 236,733 |
Evaluate if the mutation on chromosome 15 at position 76292459 in ETFA (electron transfer flavoprotein subunit alpha) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGT... | CTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGT... | pathogenic | 236,734 |
Mutation at chromosome 15, position 76292497, within ETFA (electron transfer flavoprotein subunit alpha): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | ATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGA... | ATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGA... | pathogenic | 236,735 |
Gene ETFA (electron transfer flavoprotein subunit alpha) variant at chromosome position 76292682 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | TGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTAT... | TGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGTAAAAAATATATAGCTGTACATGTACTGTAATTTAAAAATCCATAGAAGGAGGCCTAAAAGAATGTACAATTGTTAACAGCTATACTTCTAAAGAGGGGAGGGTGAGTTGGGAATAAGAAAGCAGGACTTTGACACCTTGCTCTGCACACTGCTGTACTACACGCAGTCTTCCTAATAAGGATGTATTTGTGTACAACTTATTTTACAATTTTTAAAAGTGAAAATAGGCTAAGCACAGTGACTTAT... | pathogenic | 236,736 |
Is the genetic variant on chromosome 15, position 76295599, gene ETFA (electron transfer flavoprotein subunit alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | CTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCT... | CTATATTCAGAAGGCAATTAGATTTCCCCTTTTTAAGTATCTTTATTACCTCATGGCTGGTTTCCACTTTAGCTAAGTCATATCAGTCATACTATCGTCTTCTGTCTCCTTGTTTACCTCCAAACTGATTCATTGATTCACTGATGAGTAGGATTAAAAGGCTGTGCCTTGTGCCACCCTCATATGAACTGTTAGCTTGCAACAATATTCACTGAAGAAAGGATGCAGTGCAAGAATACATTCTCTGCTAAACCAAGTGTTCACCGGCATACCATTTGTACTACAGAGGCCCTTTATTATGGATGCAGCTGCATTTAGCT... | pathogenic | 236,739 |
Clinical significance of chromosome 15, position 76311363, gene ETFA (electron transfer flavoprotein subunit alpha): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency'] | GTGGCGGGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACAAACAAACAAACAAACAAAAAAAACAGCTATTCTACTTAGCTTGACTTCAAATTTTAAAAATAAGTCAAGGTCAAAGTCTTTGGCAAACCACAATGAATATCTGGAAGTAATGTCTATACACATTAGCCAACGATGTGGATAGTAAAAATTACTTAATCATTCCATTTTTTTCTGTTAG... | GTGGCGGGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAACAAACAAACAAACAAACAAAAAAAACAGCTATTCTACTTAGCTTGACTTCAAATTTTAAAAATAAGTCAAGGTCAAAGTCTTTGGCAAACCACAATGAATATCTGGAAGTAATGTCTATACACATTAGCCAACGATGTGGATAGTAAAAATTACTTAATCATTCCATTTTTTTCTGTTAG... | pathogenic | 236,745 |
Regarding the variant at chromosome 15 and position 76995149, affecting gene PSTPIP1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTTTAATCACTAGTTTGCCCCTCTGTAAAGTGGGGATAATGACAGTGTAACTGAGGTGGTCCGTGTGAAAAGCAGAATGATGTACCCGGTGCTGGGTAAGTACTCCAAAGCCGAATTGGCTGTCTGGTCGCCCAGCCTGGGGACCTGCAACAGGTAAGGGTGGAAGGGAGGGGAGGAGGAAGGCCTCTCTAGTAGAGAATTGCAGAGTCTCTCCAGAGGTTCCTCACATTACTTCCTTCCCCAGTTGCTCCAGCCCGTCACCAGCATGGCCCTCCATCCGGGGCTGCCCTGGCTGGACAGGTACAGTTGGGAAAGGAAGG... | CTTTAATCACTAGTTTGCCCCTCTGTAAAGTGGGGATAATGACAGTGTAACTGAGGTGGTCCGTGTGAAAAGCAGAATGATGTACCCGGTGCTGGGTAAGTACTCCAAAGCCGAATTGGCTGTCTGGTCGCCCAGCCTGGGGACCTGCAACAGGTAAGGGTGGAAGGGAGGGGAGGAGGAAGGCCTCTCTAGTAGAGAATTGCAGAGTCTCTCCAGAGGTTCCTCACATTACTTCCTTCCCCAGTTGCTCCAGCCCGTCACCAGCATGGCCCTCCATCCGGGGCTGCCCTGGCTGGACAGGTACAGTTGGGAAAGGAAGG... | benign | 236,780 |
Determine whether the variant at chromosome 15, position 76995149, in gene PSTPIP1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTTTAATCACTAGTTTGCCCCTCTGTAAAGTGGGGATAATGACAGTGTAACTGAGGTGGTCCGTGTGAAAAGCAGAATGATGTACCCGGTGCTGGGTAAGTACTCCAAAGCCGAATTGGCTGTCTGGTCGCCCAGCCTGGGGACCTGCAACAGGTAAGGGTGGAAGGGAGGGGAGGAGGAAGGCCTCTCTAGTAGAGAATTGCAGAGTCTCTCCAGAGGTTCCTCACATTACTTCCTTCCCCAGTTGCTCCAGCCCGTCACCAGCATGGCCCTCCATCCGGGGCTGCCCTGGCTGGACAGGTACAGTTGGGAAAGGAAGG... | CTTTAATCACTAGTTTGCCCCTCTGTAAAGTGGGGATAATGACAGTGTAACTGAGGTGGTCCGTGTGAAAAGCAGAATGATGTACCCGGTGCTGGGTAAGTACTCCAAAGCCGAATTGGCTGTCTGGTCGCCCAGCCTGGGGACCTGCAACAGGTAAGGGTGGAAGGGAGGGGAGGAGGAAGGCCTCTCTAGTAGAGAATTGCAGAGTCTCTCCAGAGGTTCCTCACATTACTTCCTTCCCCAGTTGCTCCAGCCCGTCACCAGCATGGCCCTCCATCCGGGGCTGCCCTGGCTGGACAGGTACAGTTGGGAAAGGAAGG... | benign | 236,781 |
Gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) variant at chromosome position 77018267 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGCCGCACAAGGTGGTTCCCAGTTCTCAGGGCGGGGGGGTCTGTGGCATTCTGACATGAATGCTGGTGTCCCTCCGGGCAGGTGCAGGAGGCTGAGGCCCCAGATTTGTTTTTCTTCCCAGCCGCCAGGAGCTCTGACCTGAGGGTCTGGAGTGAGGGCAGAGGCTGAGGGGTGGGAAGGGGAGGGCTGCTGGCTGCAAGCAGCTGCCCACCAAAACCACAGAAATGGAAGCCTGGTCCAAGCTAACCCAGTGATGTCAACCTGGACATGGGGGTGGGCGCCTGCCTCTGAGGCTGGGGGGACAGCTTCTGGCCTTCCAG... | AGCCGCACAAGGTGGTTCCCAGTTCTCAGGGCGGGGGGGTCTGTGGCATTCTGACATGAATGCTGGTGTCCCTCCGGGCAGGTGCAGGAGGCTGAGGCCCCAGATTTGTTTTTCTTCCCAGCCGCCAGGAGCTCTGACCTGAGGGTCTGGAGTGAGGGCAGAGGCTGAGGGGTGGGAAGGGGAGGGCTGCTGGCTGCAAGCAGCTGCCCACCAAAACCACAGAAATGGAAGCCTGGTCCAAGCTAACCCAGTGATGTCAACCTGGACATGGGGGTGGGCGCCTGCCTCTGAGGCTGGGGGGACAGCTTCTGGCCTTCCAG... | benign | 236,790 |
Variant in gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1), located at chromosome 15 position 77018444: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGGGGAGGGCTGCTGGCTGCAAGCAGCTGCCCACCAAAACCACAGAAATGGAAGCCTGGTCCAAGCTAACCCAGTGATGTCAACCTGGACATGGGGGTGGGCGCCTGCCTCTGAGGCTGGGGGGACAGCTTCTGGCCTTCCAGGCTAGACACGCTGCTTGTTGCTCTGTGGACAGCTGAGCCTGGACCAGGCCCTCCTCAGGAATTTCTAGGGATGCTTATGGAGGGGGTAGGAGCTTGGGGTCCTAAGTGTCCTACAGGCCAGGAGAGTCCACCTGCTGAGGGTGGGCTGGAGTTTGTGGGGAGGGGGGGCACTGTTGG... | AGGGGAGGGCTGCTGGCTGCAAGCAGCTGCCCACCAAAACCACAGAAATGGAAGCCTGGTCCAAGCTAACCCAGTGATGTCAACCTGGACATGGGGGTGGGCGCCTGCCTCTGAGGCTGGGGGGACAGCTTCTGGCCTTCCAGGCTAGACACGCTGCTTGTTGCTCTGTGGACAGCTGAGCCTGGACCAGGCCCTCCTCAGGAATTTCTAGGGATGCTTATGGAGGGGGTAGGAGCTTGGGGTCCTAAGTGTCCTACAGGCCAGGAGAGTCCACCTGCTGAGGGTGGGCTGGAGTTTGTGGGGAGGGGGGGCACTGTTGG... | benign | 236,796 |
Clinical impact (benign or pathogenic) of the variant at chromosome 15, location 77032848, gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1): what disease(s) if pathogenic? | benign | TCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCC... | TCTTCCACCCTCTTTGTTGAAGCCAAAACTGGGACTTGGACTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCC... | benign | 236,857 |
A genetic variant on chromosome 15, position 77035767, affects the gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTA... | GGCCCTTCCCAAGGACCAGCTCATTCCAGGGCCTCAGGAGCCCCTGGAACTTCCTACTCCTGGGAGGCAGAGGCTCGTGGGAACCACCCGTGCTTAGAGAGGGCACACACACACCCTCTTTGAGAATCTTGTGCAAGCAGTGACCCCAGGAGGCAGCACACCCGCAGCCTCACATGCTACAAAAGCTTGTGAGACAGGCTTCCCTGTGCCTGGTGAGGACCTGGATCCCAGCAAAGGTGGTCATTTAAGCAACTGGACAAAAGAGCTCACCTGAAGCAGTATCAGGAAGGGGCAGAAAGGAGTGGCCCCAGAGAGGATTA... | benign | 236,869 |
Is chromosome 15, position 77037329, gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGTGGAGGGCGTAGCTGGGGAAGGAGGAGCCACCAGGACTACTTTCTGGGGAGCCCTCCTGCCTGAGGGGCACCTCATAAATGACATCCATGCCTGGAGGCTAGGGGCAGTCCCAGCCCTGGCAGAGCGCGTGCAGCTCTGAGACCTCTCCCTGTCTAAACCCTCCCTCCTGGTGGGTCCCTGAGTGTGGGGCGGGGACACTCACCCTCTTTCCTCCCTGTTCCCAGGTTCTCTGGACTGCTGCACGGAAGTCCCAAGACCACTTCGTTGGCAGCTTCTGCTGGTAAAGGGGGTCAGGAGGGGACCCCCAAACACACTGA... | AGTGGAGGGCGTAGCTGGGGAAGGAGGAGCCACCAGGACTACTTTCTGGGGAGCCCTCCTGCCTGAGGGGCACCTCATAAATGACATCCATGCCTGGAGGCTAGGGGCAGTCCCAGCCCTGGCAGAGCGCGTGCAGCTCTGAGACCTCTCCCTGTCTAAACCCTCCCTCCTGGTGGGTCCCTGAGTGTGGGGCGGGGACACTCACCCTCTTTCCTCCCTGTTCCCAGGTTCTCTGGACTGCTGCACGGAAGTCCCAAGACCACTTCGTTGGCAGCTTCTGCTGGTAAAGGGGGTCAGGAGGGGACCCCCAAACACACTGA... | benign | 236,888 |
Does the chromosome 15 mutation at position 78109271 within gene CIB2 (calcium and integrin binding family member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_48', 'Rare_genetic_deafness', 'Usher_syndrome_type_1J'] | AGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCA... | AGACTCTATCTCAAAAATAAAAAAAGAAACAGGGAGGTGAAAAGGAGAGGTACCTGCCTGAGGTCACATCCCGGTCATTGTTGGACCCTAGAGCCCAAGCTCTTGGGGTGACTCTGCCCTGTCTATCTCTGCAGAGGCCTGGGCACAACTCTAGGGTATGCGTCAGGGAGTATTCATCTCTGCCCATGGCATGGGACATAGCAAATCTCTGGAAAGATTTGCTGGCTGGCTGGCTGAATTCCTGTGGCCATTTAACCTGAGTAAACTGAGGCTCAGAAGTGAGATGATCATTGTTGCAAATGAGGCCCCAGGCCTCCCCA... | pathogenic | 236,913 |
Benign or pathogenic: chromosome 15, position 78620725, gene CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) variant? Disease(s) if pathogenic? | benign | AAAGTTGACAGGAGAATTACAAAACAAGACTAATTCTGGGAAAGGCTCCTCCAGAAGCCCCGGTCCCCATGGCCACGGCTCGTGGCTTCCAGCACTCACCACCTTCACCAGCTGAGACATGGACACCTCGAAATGGATGATGACTGGGTCAGACACGTTGGCTACAGGCCGGATGATCTCATTGTAATCTTCAAACAGCCGCTCAAATAGACGGTGCTCAGCCTCTGAGGCCCTGGCCACTGTGGGAAGCAGCCCTGTCAGTCCCTGGGGAAATCGTTACTTAACCTCCCCCACCCAGCCCAGCAGAAACATCACCCATC... | AAAGTTGACAGGAGAATTACAAAACAAGACTAATTCTGGGAAAGGCTCCTCCAGAAGCCCCGGTCCCCATGGCCACGGCTCGTGGCTTCCAGCACTCACCACCTTCACCAGCTGAGACATGGACACCTCGAAATGGATGATGACTGGGTCAGACACGTTGGCTACAGGCCGGATGATCTCATTGTAATCTTCAAACAGCCGCTCAAATAGACGGTGCTCAGCCTCTGAGGCCCTGGCCACTGTGGGAAGCAGCCCTGTCAGTCCCTGGGGAAATCGTTACTTAACCTCCCCCACCCAGCCCAGCAGAAACATCACCCATC... | benign | 236,987 |
Mutation at chromosome 15, position 79896963, within MTHFS: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_hypomyelination'] | GGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCT... | GGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATACAGTTAAAAAACAATGGCGCCAGATTCAGCCCAGATCTGTGCAGTTCCAAAGCCCATGCTAAACTGTATCCTGTCATCTCT... | pathogenic | 237,018 |
The mutation impacting FAH (fumarylacetoacetate hydrolase) on chromosome 15 at position 80153065: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tyrosinemia_type_I'] | TAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGT... | TAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGT... | pathogenic | 237,028 |
The mutation impacting FAH (fumarylacetoacetate hydrolase) on chromosome 15 at position 80153121: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tyrosinemia_type_I'] | TGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCT... | TGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCT... | pathogenic | 237,030 |
Gene mutation in FAH (fumarylacetoacetate hydrolase) at chromosome 15, position 80153170—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAG... | CTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCGGGCCCTGCTTGCCGTACTCGCTCCTCTCAAGCCGTCTGGTTTCAAGCCCACTTAG... | benign | 237,032 |
Considering the variant on chromosome 15, location 80158073, involving gene FAH (fumarylacetoacetate hydrolase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Tyrosinemia_type_I'] | TGCGGGCAGGCCTGGATAATATCCAGCCTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATAC... | TGCGGGCAGGCCTGGATAATATCCAGCCTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATAC... | pathogenic | 237,038 |
Regarding the variant at chromosome 15 and position 80158091, affecting gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Tyrosinemia_type_I'] | ATATCCAGCCTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTC... | ATATCCAGCCTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTC... | pathogenic | 237,039 |
A mutation at chromosome position 80158168 on chromosome 15 in gene FAH (fumarylacetoacetate hydrolase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Tyrosinemia_type_I'] | GGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCC... | GGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCC... | pathogenic | 237,044 |
Does the variant impacting FAH (fumarylacetoacetate hydrolase) on chromosome 15, position 80162318, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Tyrosinemia_type_I'] | GCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGG... | GCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGAGGAGGGGCTCTGG... | pathogenic | 237,065 |
Does the chromosome 15 mutation at position 80168143 within gene FAH (fumarylacetoacetate hydrolase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Tyrosinemia_type_I'] | AAACTGTTAATCGGTGTCATACATATATTTTCTTTTTCTTTTTTTTTTGAGACTGGGTCTTACTTGGTCACCCAGGCTGGAGTGCAGTGGCATGACCTTGGCTCACTGCAGCCTTGACCTCCCAGGTGAAGCCATCCTCCTGCCTCAGCCCCCTAAGTAGCTGGGATTAAAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGTTTTCGCCATGTTGATCAGGCTGGTCGCAAACTCCTGGACTCAAGTGATCAGCCCACCTTGGCCTGCCTTAGCCCCACAAAGTGCTGGGGTTATAGGCA... | AAACTGTTAATCGGTGTCATACATATATTTTCTTTTTCTTTTTTTTTTGAGACTGGGTCTTACTTGGTCACCCAGGCTGGAGTGCAGTGGCATGACCTTGGCTCACTGCAGCCTTGACCTCCCAGGTGAAGCCATCCTCCTGCCTCAGCCCCCTAAGTAGCTGGGATTAAAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGATGGGTTTTCGCCATGTTGATCAGGCTGGTCGCAAACTCCTGGACTCAAGTGATCAGCCCACCTTGGCCTGCCTTAGCCCCACAAAGTGCTGGGGTTATAGGCA... | pathogenic | 237,078 |
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