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 |
|---|---|---|---|---|---|
For chromosome 9, position 12704544, gene TYRP1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Albinism', 'MELANESIAN_BLOND_HAIR', 'Oculocutaneous_albinism_type_3'] | TTCAAAAGCAAGTTTCTTTGAGAAGGCTTTGAATAGTATATTAATCCTGTGTGTTTATGTGAATGAGATTTTCTATTATGATACACCTGCTTGAAAAAGGAACTTTCTTAAAAAGAAGAGTCAACCATGAAGCTCTTTTCATTATAGGTGAAGCCCTTGGAAATCATGCTCTAATTTCTTAAACACCCAAAAACTTTTTAAATTCAAATTTCTGGTAGCTAGCTGGCCAATATGTAACTATATCAAGGTCTCTAGCATTGGCAAACAATATTCAAGACTTTGACAGTGTATTAAATTAGTTTAGTTTTTTTTTTAAATAG... | TTCAAAAGCAAGTTTCTTTGAGAAGGCTTTGAATAGTATATTAATCCTGTGTGTTTATGTGAATGAGATTTTCTATTATGATACACCTGCTTGAAAAAGGAACTTTCTTAAAAAGAAGAGTCAACCATGAAGCTCTTTTCATTATAGGTGAAGCCCTTGGAAATCATGCTCTAATTTCTTAAACACCCAAAAACTTTTTAAATTCAAATTTCTGGTAGCTAGCTGGCCAATATGTAACTATATCAAGGTCTCTAGCATTGGCAAACAATATTCAAGACTTTGACAGTGTATTAAATTAGTTTAGTTTTTTTTTTAAATAG... | pathogenic | 142,540 |
Mutation at chromosome 9, position 12704639, within TYRP1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | AAAGGAACTTTCTTAAAAAGAAGAGTCAACCATGAAGCTCTTTTCATTATAGGTGAAGCCCTTGGAAATCATGCTCTAATTTCTTAAACACCCAAAAACTTTTTAAATTCAAATTTCTGGTAGCTAGCTGGCCAATATGTAACTATATCAAGGTCTCTAGCATTGGCAAACAATATTCAAGACTTTGACAGTGTATTAAATTAGTTTAGTTTTTTTTTTAAATAGAGTAATAAAAAAAATTCCAAACAATTAGTTGACACTGAGTAAAGCCTTGCTTGCGCATATGTTTTATTTAGGTCCGTATTAACCTGTAACTTTTT... | AAAGGAACTTTCTTAAAAAGAAGAGTCAACCATGAAGCTCTTTTCATTATAGGTGAAGCCCTTGGAAATCATGCTCTAATTTCTTAAACACCCAAAAACTTTTTAAATTCAAATTTCTGGTAGCTAGCTGGCCAATATGTAACTATATCAAGGTCTCTAGCATTGGCAAACAATATTCAAGACTTTGACAGTGTATTAAATTAGTTTAGTTTTTTTTTTAAATAGAGTAATAAAAAAAATTCCAAACAATTAGTTGACACTGAGTAAAGCCTTGCTTGCGCATATGTTTTATTTAGGTCCGTATTAACCTGTAACTTTTT... | pathogenic | 142,543 |
A genetic variant at chromosome 9, position 12708958, affecting gene TYRP1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AATAGAATTATTAGGCTTGGAAAGGAACAAAAATTACACTTTACAGATAAAGAAAAGTGGAGTCATTCAAATATTAATGTCCATTACAGGTTCCTTTCATTAGACATGAAATAGTACAATTGAGAGCATCCAAACTCTAGTTACTACCATGTTAATTTCTATTTACTAACATTTCTGATCTATATACACATTCAATTCAATTCCTTCTCTTTTATTTCAACTGAGAATTATATGAATTAAGTTTTAAATATAGCAGCCCAGAAGTTCAGTGTATTTTCAGAAGAAGCAGTTTATACGTTTCCAAGAGTGATCACTACTTT... | AATAGAATTATTAGGCTTGGAAAGGAACAAAAATTACACTTTACAGATAAAGAAAAGTGGAGTCATTCAAATATTAATGTCCATTACAGGTTCCTTTCATTAGACATGAAATAGTACAATTGAGAGCATCCAAACTCTAGTTACTACCATGTTAATTTCTATTTACTAACATTTCTGATCTATATACACATTCAATTCAATTCCTTCTCTTTTATTTCAACTGAGAATTATATGAATTAAGTTTTAAATATAGCAGCCCAGAAGTTCAGTGTATTTTCAGAAGAAGCAGTTTATACGTTTCCAAGAGTGATCACTACTTT... | benign | 142,547 |
Variant at chromosome position 13126767, chromosome 9, gene MPDZ (multiple PDZ domain crumbs cell polarity complex component): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_2'] | ACTAAAGAGTTTCTTACAGTGGCAGGCAGTACTGATCCCACCTATGAAATAGGATAATTGCATATCCATTCTACAGAAAAGAAAGCTGAGGCTTAGAGAAGTTAAATTACTTTCCCAGCTTAAAAAAAGAATCTACGAAATGATATTTCTAATTCATTAGTTAGAGGCCTGGAATCAAGGTGCCCTTAGCAATATATTTTTGGAGAGCAAAGAATACTATTCCCTTGTTTTAGAGATGAAGAAGCTGAGGCTTTGAGTGGGTAGGTTTCCTAAGATGCCACAGCTGCTTAATGTACAGCACATAGATTGCCTGCCTAACA... | ACTAAAGAGTTTCTTACAGTGGCAGGCAGTACTGATCCCACCTATGAAATAGGATAATTGCATATCCATTCTACAGAAAAGAAAGCTGAGGCTTAGAGAAGTTAAATTACTTTCCCAGCTTAAAAAAAGAATCTACGAAATGATATTTCTAATTCATTAGTTAGAGGCCTGGAATCAAGGTGCCCTTAGCAATATATTTTTGGAGAGCAAAGAATACTATTCCCTTGTTTTAGAGATGAAGAAGCTGAGGCTTTGAGTGGGTAGGTTTCCTAAGATGCCACAGCTGCTTAATGTACAGCACATAGATTGCCTGCCTAACA... | pathogenic | 142,565 |
Mutation at chromosome 9, position 13143484, within MPDZ (multiple PDZ domain crumbs cell polarity complex component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_2'] | AGGTCAGGAACATCCAGCTAAAGTTCTAACCTCGGTATGAAGTTGTCCCTGATACCTTGAACCTATAGTTTTCCTATATATCTTTATTTTACTTTTTTACTGCATAAGAATTCCTCTGATACAATGTTTTATTATATATGTTTATATCTAGAAAAATATTATGATTTTTTTTAAAAAACTGACTTCTTGTAAGGATACATTAAATGATAAACACGCACAAATACTTAGAAATTATTAATTGGTGCCACGAATTAGGATACCTAAAAATATATGTAACACTAGAACTATTTGAGACTGAATGCGACCTTTCTTTGTTGATT... | AGGTCAGGAACATCCAGCTAAAGTTCTAACCTCGGTATGAAGTTGTCCCTGATACCTTGAACCTATAGTTTTCCTATATATCTTTATTTTACTTTTTTACTGCATAAGAATTCCTCTGATACAATGTTTTATTATATATGTTTATATCTAGAAAAATATTATGATTTTTTTTAAAAAACTGACTTCTTGTAAGGATACATTAAATGATAAACACGCACAAATACTTAGAAATTATTAATTGGTGCCACGAATTAGGATACCTAAAAATATATGTAACACTAGAACTATTTGAGACTGAATGCGACCTTTCTTTGTTGATT... | pathogenic | 142,575 |
A genetic variant on chromosome 9, position 13176181, affects the gene MPDZ (multiple PDZ domain crumbs cell polarity complex component). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_2', 'MPDZ-related_disorder'] | ACATCTCCTCTTTTCTGAAACCATTCTAAAGTTCTCCACACTTGGAGAGTAGGGATTAGTTATTCCCTCTTTTAAGCCTTTAATGTTCTCTGTAAGTATCTATTATAGCATGTACAATATTTTAATGCCTTTAGGATTTTAAATGTCAATTAGCTTACTCTCTTAAACTTGTGTTAAGAACAGTGATATTATGGTGTCTATGCATAGTGGATATAGTATTAAAATAAATGTTTGCTAGTTGAGTAAATACACTAGAATAATAGTTCTCAGATAGGCTTTGCAAAATCTCTGCCTTATCAATTATTCAAGAAAAATGGGTT... | ACATCTCCTCTTTTCTGAAACCATTCTAAAGTTCTCCACACTTGGAGAGTAGGGATTAGTTATTCCCTCTTTTAAGCCTTTAATGTTCTCTGTAAGTATCTATTATAGCATGTACAATATTTTAATGCCTTTAGGATTTTAAATGTCAATTAGCTTACTCTCTTAAACTTGTGTTAAGAACAGTGATATTATGGTGTCTATGCATAGTGGATATAGTATTAAAATAAATGTTTGCTAGTTGAGTAAATACACTAGAATAATAGTTCTCAGATAGGCTTTGCAAAATCTCTGCCTTATCAATTATTCAAGAAAAATGGGTT... | pathogenic | 142,585 |
Is the genetic variant on chromosome 9, position 13206048, gene MPDZ (multiple PDZ domain crumbs cell polarity complex component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_2', 'MPDZ-related_disorder'] | TGAACTCTATAGATCTAACTTCTGGAATATCTCTGCAAACATAAATATCCCTTTAAAATTGTAAAGCTCATTCAAAATTTTCAGCAGAAAATCCAATAATGAAGGAACAGATATGTTAAAAAACAACAAAGCTTCGGTATAAGTATATTCACATGAAGGGAGGGAGATCAGTCTTGTATTCTGTTCAGTGAGTTTAAGTTACCAAGTACCTAAAGCAATCTGAAAGGTAAAGGAAGCACACAGCACAACAGAATAAAAAGAGGGCAGCAACATTCTGGCAAAACTATGTATTAAAATAATGCTACTGGCCAGGTGTGGTG... | TGAACTCTATAGATCTAACTTCTGGAATATCTCTGCAAACATAAATATCCCTTTAAAATTGTAAAGCTCATTCAAAATTTTCAGCAGAAAATCCAATAATGAAGGAACAGATATGTTAAAAAACAACAAAGCTTCGGTATAAGTATATTCACATGAAGGGAGGGAGATCAGTCTTGTATTCTGTTCAGTGAGTTTAAGTTACCAAGTACCTAAAGCAATCTGAAAGGTAAAGGAAGCACACAGCACAACAGAATAAAAAGAGGGCAGCAACATTCTGGCAAAACTATGTATTAAAATAATGCTACTGGCCAGGTGTGGTG... | pathogenic | 142,612 |
Variant in MPDZ (multiple PDZ domain crumbs cell polarity complex component), chromosome 9, position 13223689—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hydrocephalus,_nonsyndromic,_autosomal_recessive_2'] | TTCATTTGGTATACTTCCCTTTCAACAGAATGTAAGTGCCATTGACAGAATCATTCTTGAAATTATCAATATATCATCATAATGATTTCACTTCAACAGTTAAAGACAGGCATTGATTTGCAAGATCTTTTGTAGAACTTCTTTAAAAAAAAAGAAAAAGTTCAAAGAAAAAAAAAGGTCACATGTTAAGAATGTCTTCTGCATAATCCTGCCTTGAGGCAGGATTCCAAATTAGATGACTTCTTAAAAGTTACTGACAGCTAACTCTAACAATATAATTGTATAATTTTTAAAGCAAAATCAAGCTTGTATCTGTCTAC... | TTCATTTGGTATACTTCCCTTTCAACAGAATGTAAGTGCCATTGACAGAATCATTCTTGAAATTATCAATATATCATCATAATGATTTCACTTCAACAGTTAAAGACAGGCATTGATTTGCAAGATCTTTTGTAGAACTTCTTTAAAAAAAAAGAAAAAGTTCAAAGAAAAAAAAAGGTCACATGTTAAGAATGTCTTCTGCATAATCCTGCCTTGAGGCAGGATTCCAAATTAGATGACTTCTTAAAAGTTACTGACAGCTAACTCTAACAATATAATTGTATAATTTTTAAAGCAAAATCAAGCTTGTATCTGTCTAC... | pathogenic | 142,621 |
Determine if the mutation at chromosome 9, position 14307174 in gene NFIB (nuclear factor I B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Macrocephaly,_acquired,_with_impaired_intellectual_development'] | CATTTATGCGTTTTTTTTCTTTTTTCAATCTATCTCTACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACA... | CATTTATGCGTTTTTTTTCTTTTTTCAATCTATCTCTACAAATCTTTATTGTCAGTTCATCAAAACTAAGAGAGCTGGCTGCCTTCCCCAGGAGTAAATGTGCATGCAGGCAGGCACACCTCAAAACCTAGCCTTCAAGCAACTTAAAATGTGAGCAGTAGTGAAGTGGTTGCAAATCTTCCCTCCCTGCACTAAAAAGTTACATGACCCACTTTTTGAAACTTTACTTCCATCCTTGACTTTCACAACACAGTTACAACACATTTATAGTCAATCCAACACATATATACAGCCCACCTTAAAGTGTCACCTCCTAGACA... | pathogenic | 142,628 |
The chromosome 9, position 14756453 genetic variant in gene FREM1 (FRAS1 related extracellular matrix 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGAATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGG... | AGAATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGG... | benign | 142,667 |
Mutation found at chromosome 9 position 14756456, gene FREM1 (FRAS1 related extracellular matrix 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGGAGT... | ATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGGAGT... | benign | 142,668 |
Is the variant located on chromosome 9 at position 14756456, gene FREM1 (FRAS1 related extracellular matrix 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGGAGT... | ATGTTAACTATCACAGGAAGGAGGCCAAAAACAAAATACAGATTTTTGCATGTCGAAGTGAAGGTTCACTGTTATAGGCTGAATGGCGTTTCTAAAAAATTCACGTCCTCACTCCCAGTACCTCTGAATGTGACCTTATTTGGAACTAGGGTAATTACAGGTGTAATTAGTTAATGTGAGGTCATACTGGAATAAGGTGGGCTCCTCATCCATTATGACTGGTATTGTATAAAAAGGGGGACTTGGCTGGGCACAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACAAAGTCAGGAGT... | benign | 142,669 |
Is the chromosome 9, position 14824093 variant in FREM1 (FRAS1 related extracellular matrix 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BNAR_syndrome', 'Inborn_genetic_diseases', 'Oculotrichoanal_syndrome', 'Trigonocephaly_2'] | AGTGAATACATCTCACAAGATCTGATGGTTTTATAAATGAGAGTTCCCTGCACAAGTTCTCTTGCCTGCCACCATGTAAGACGTGACTTTGCTCCTCATCCCCCTTCTGCCATGGTTGTGAGGCTTCCCTAGCCACGTGAAACTGTGAATTCATTAAACCCCTTTCCTTTGTAAATTACCCAGTCTCGGGTATGTCTTTATTAGCAGCGTGAGAACAGACTAATACACCCATCAAAACTTCTGCAGGTTGGGCAGCCCTTTTAGGCCCTCAGGGTAAGACCTCTGCCCCACAACCTTGGGCAGGTATAGAGATGATGAGG... | AGTGAATACATCTCACAAGATCTGATGGTTTTATAAATGAGAGTTCCCTGCACAAGTTCTCTTGCCTGCCACCATGTAAGACGTGACTTTGCTCCTCATCCCCCTTCTGCCATGGTTGTGAGGCTTCCCTAGCCACGTGAAACTGTGAATTCATTAAACCCCTTTCCTTTGTAAATTACCCAGTCTCGGGTATGTCTTTATTAGCAGCGTGAGAACAGACTAATACACCCATCAAAACTTCTGCAGGTTGGGCAGCCCTTTTAGGCCCTCAGGGTAAGACCTCTGCCCCACAACCTTGGGCAGGTATAGAGATGATGAGG... | pathogenic | 142,746 |
Regarding the variant at chromosome 9 and position 20740356, affecting gene FOCAD (focadhesin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATTCTAGTTTACAAAAAGATTTCCATTTTAATTTTCACTGAGTTACAGTGAGATTCACTGGCCATTTTGTGGGCCAAAGTACCATAGAATTGACACAGTACCAATGTGTAGCATGTGAGCAAGCCAAATCTTGATTTGACATCCATTGGAGAACACACACAGGAGAGAGAATCTTTATGGAGAAGGCTTCATGAAGTGTTGGGACCTCTGTGTTCACCAGAGGATCCACACAGGAGAGAAACTATACACATGTGACATATGTCATGAAAGATTCATCCATGAGTTATACTGAATGGTCCTAAGAGGATCCATATGGAAGA... | ATTCTAGTTTACAAAAAGATTTCCATTTTAATTTTCACTGAGTTACAGTGAGATTCACTGGCCATTTTGTGGGCCAAAGTACCATAGAATTGACACAGTACCAATGTGTAGCATGTGAGCAAGCCAAATCTTGATTTGACATCCATTGGAGAACACACACAGGAGAGAGAATCTTTATGGAGAAGGCTTCATGAAGTGTTGGGACCTCTGTGTTCACCAGAGGATCCACACAGGAGAGAAACTATACACATGTGACATATGTCATGAAAGATTCATCCATGAGTTATACTGAATGGTCCTAAGAGGATCCATATGGAAGA... | benign | 142,828 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 21970998, gene CDKN2A (cyclin dependent kinase inhibitor 2A): what disease(s) if pathogenic? | pathogenic; ['Familial_melanoma', 'Melanoma_and_neural_system_tumor_syndrome'] | TTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGT... | TTTATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGT... | pathogenic | 142,993 |
A genetic alteration at chromosome 9, position 21971000, in gene CDKN2A (cyclin dependent kinase inhibitor 2A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | TATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCC... | TATTCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCC... | pathogenic | 142,995 |
Clinical significance of chromosome 9, position 21971003, gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | TCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAG... | TCCTGAGGCAGCATTTGCACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAG... | pathogenic | 142,996 |
The mutation impacting CDKN2A (cyclin dependent kinase inhibitor 2A) on chromosome 9 at position 21971021: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma_and_neural_system_tumor_syndrome'] | ACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGG... | ACTTGAGTTTCTTTCTCCCGTAGCTTGCATTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGG... | pathogenic | 142,997 |
Does the chromosome 9 mutation at position 21971050 within gene CDKN2A (cyclin dependent kinase inhibitor 2A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_melanoma'] | TTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTG... | TTAGATTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTG... | pathogenic | 143,005 |
Variant in gene CDKN2A (cyclin dependent kinase inhibitor 2A), located at chromosome 9 position 21971055: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_melanoma'] | TTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCT... | TTCTCCGACCACTCTTTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCT... | pathogenic | 143,006 |
Variant in CDKN2A (cyclin dependent kinase inhibitor 2A), chromosome 9, position 21971070—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_melanoma', 'Melanoma-pancreatic_cancer_syndrome'] | TTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGAT... | TTAGCTTCTCCTCCTATTCACACTTCATATTTACCCATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGAT... | pathogenic | 143,010 |
The mutation impacting CDKN2A (cyclin dependent kinase inhibitor 2A) on chromosome 9 at position 21971105: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma-pancreatic_cancer_syndrome'] | CATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGA... | CATTGCATTGGTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGA... | pathogenic | 143,018 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 21971115, gene CDKN2A (cyclin dependent kinase inhibitor 2A): what disease(s) if pathogenic? | pathogenic; ['CDKN2A-related_disorder', 'Familial_melanoma', 'Familial_pancreatic_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma-pancreatic_cancer_syndrome', 'Melanoma_and_neural_system_tumor_syndrome'] | GTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCC... | GTTTTATAAACTCGCTCTCTGAAAATAGATTGTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCC... | pathogenic | 143,020 |
Is the chromosome 9, position 21971146 variant in CDKN2A (cyclin dependent kinase inhibitor 2A) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Melanoma_and_neural_system_tumor_syndrome'] | GTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTG... | GTTATCTTCCTTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTG... | pathogenic | 143,027 |
Clinical classification of chromosome 9, position 21971156, gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma-pancreatic_cancer_syndrome'] | TTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCA... | TTAACGTCTGTTTCCCAGGTCGGGCAAGATAGCTTGGGACTGTAATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCA... | pathogenic | 143,029 |
For chromosome 9, position 21974692, gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | AGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAA... | AGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAA... | pathogenic | 143,067 |
Benign or pathogenic: chromosome 9, position 21974695, gene CDKN2A (cyclin dependent kinase inhibitor 2A) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | AGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTA... | AGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTA... | pathogenic | 143,068 |
The mutation in gene CDKN2A (cyclin dependent kinase inhibitor 2A) at chromosome 9, position 21974696—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_2', 'Melanoma-pancreatic_cancer_syndrome', 'Melanoma_and_neural_system_tumor_syndrome'] | GCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTAT... | GCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTAT... | pathogenic | 143,071 |
Determine if the mutation at chromosome 9, position 21974696 in gene CDKN2A (cyclin dependent kinase inhibitor 2A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | GCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTAT... | GCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTAT... | pathogenic | 143,072 |
Variant on chromosome 9, at position 21974701, affecting CDKN2A (cyclin dependent kinase inhibitor 2A): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma-pancreatic_cancer_syndrome'] | AGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTAT... | AGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTAT... | pathogenic | 143,075 |
Evaluate the clinical significance of the mutation at chromosome 9, position 21974715 in gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCT... | CTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCT... | pathogenic | 143,078 |
Classify the chromosome 9 variant at position 21974721 affecting gene CDKN2A (cyclin dependent kinase inhibitor 2A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | AGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTG... | AGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTG... | pathogenic | 143,081 |
A mutation at chromosome position 21974721 on chromosome 9 in gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTG... | AGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTG... | pathogenic | 143,082 |
Classify the chromosome 9 variant at position 21974777 affecting gene CDKN2A (cyclin dependent kinase inhibitor 2A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Squamous_cell_lung_carcinoma'] | ATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCA... | ATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCA... | pathogenic | 143,109 |
Mutation found at chromosome 9 position 21974782, gene CDKN2A (cyclin dependent kinase inhibitor 2A): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTG... | CTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTG... | pathogenic | 143,112 |
Classify the chromosome 9 variant at position 21974785 affecting gene CDKN2A (cyclin dependent kinase inhibitor 2A) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAG... | GGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAG... | pathogenic | 143,114 |
Is chromosome 9, position 21974795, gene CDKN2A (cyclin dependent kinase inhibitor 2A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['CDKN2A-related_disorder', 'Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_2', 'Melanoma-pancreatic_cancer_syndrome', 'Melanoma_and_neural_system_tumor_syndrome'] | CCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAG... | CCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAG... | pathogenic | 143,118 |
Is the variant located on chromosome 9 at position 21974805, gene CDKN2A (cyclin dependent kinase inhibitor 2A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAA... | AGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAA... | pathogenic | 143,119 |
A genetic alteration at chromosome 9, position 21994137, in gene CDKN2A (cyclin dependent kinase inhibitor 2A)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_melanoma', 'Hereditary_cancer-predisposing_syndrome'] | CCAATCATATAAAAATAAAAAGTCATAATAAACATATTTGCAGAAACTTAAAAAAAGTTAAAATAACATCTTATTTGCAATGATATTAAATAATTCATACAAGTAATTTTTAGCACTTGTGCCTCTCAAGGAATTGTATGAATCCTAACATAATTAGTATCCATATATATTCCCAAATCAATATAGCCATGGGCATAAAATATATTAATGTGAAATATATAATTACATATCATTATAATTAACACCGCTAGATTTTATATTATGTATATCATTTTACATATGAAATTGGAAAATTGCATATATTTCAAGACATTCTATCC... | CCAATCATATAAAAATAAAAAGTCATAATAAACATATTTGCAGAAACTTAAAAAAAGTTAAAATAACATCTTATTTGCAATGATATTAAATAATTCATACAAGTAATTTTTAGCACTTGTGCCTCTCAAGGAATTGTATGAATCCTAACATAATTAGTATCCATATATATTCCCAAATCAATATAGCCATGGGCATAAAATATATTAATGTGAAATATATAATTACATATCATTATAATTAACACCGCTAGATTTTATATTATGTATATCATTTTACATATGAAATTGGAAAATTGCATATATTTCAAGACATTCTATCC... | pathogenic | 143,138 |
Does the variant impacting TEK (TEK receptor tyrosine kinase) on chromosome 9, position 27229171, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Vascular_malformation'] | TGTGACACCCTAAGCCAATGGTTGATAGCCTTCCATGCACATAAGGTTCCCCAGAGTCATTTGTTCAGCATGTGGGCTCTTGGTCCCCACTGTCAGTCATTGATTCTGTAAGTTTAGGGCAGGTTCCAGAATTCTGCATTTTAATAACAGAGTAGTTCTGAGCACAACTGAGTAAGCACTGTCTTAGGTCAGTGTTTCCCAAACTATGTTTTCACGTGTTGTGCAAGATATAAATACATGATGCAAGGGGAAAGGAGTTCTGCGGTCAATTACTTTGGAAACTTTGTGTTAAACCTGTTGTCTTAGTCATTTCCGGCTGC... | TGTGACACCCTAAGCCAATGGTTGATAGCCTTCCATGCACATAAGGTTCCCCAGAGTCATTTGTTCAGCATGTGGGCTCTTGGTCCCCACTGTCAGTCATTGATTCTGTAAGTTTAGGGCAGGTTCCAGAATTCTGCATTTTAATAACAGAGTAGTTCTGAGCACAACTGAGTAAGCACTGTCTTAGGTCAGTGTTTCCCAAACTATGTTTTCACGTGTTGTGCAAGATATAAATACATGATGCAAGGGGAAAGGAGTTCTGCGGTCAATTACTTTGGAAACTTTGTGTTAAACCTGTTGTCTTAGTCATTTCCGGCTGC... | pathogenic | 143,303 |
The chromosome 9, position 32493945 genetic variant in gene RIGI (RNA sensor RIG-I): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAATGCTGAGTGTCAGCTTCAAGAAACCAAATGATAGTTCAGACACTTAATGACAACCAATTCTTTCACCCGTCGGATTCAGTTCCAGATGGCTTCCAGTAAGAGAACCAGGCAATGTCTGTCAAGAAATCAACTCTGAAAAGGGGGTAAGTCCTGGAGTTTGAACCTTTAACTCTAGAATTCTCAAGCTATTTCTCTGATAATCTAAACTTAGACTGAGAGTTCGGATTTTGCCTTCCTCAAATCCTTTGGGCCAGATGGGCTAATTCTGGATGAGAGTGGTTTTCCCCAGTCCATTTTTAGGGGTTATATGCAACCAA... | CAATGCTGAGTGTCAGCTTCAAGAAACCAAATGATAGTTCAGACACTTAATGACAACCAATTCTTTCACCCGTCGGATTCAGTTCCAGATGGCTTCCAGTAAGAGAACCAGGCAATGTCTGTCAAGAAATCAACTCTGAAAAGGGGGTAAGTCCTGGAGTTTGAACCTTTAACTCTAGAATTCTCAAGCTATTTCTCTGATAATCTAAACTTAGACTGAGAGTTCGGATTTTGCCTTCCTCAAATCCTTTGGGCCAGATGGGCTAATTCTGGATGAGAGTGGTTTTCCCCAGTCCATTTTTAGGGGTTATATGCAACCAA... | benign | 143,345 |
Mutation at chromosome 9, position 32541967, within TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_31'] | ACTTACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGC... | ACTTACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGC... | pathogenic | 143,355 |
Is the genetic mutation found on chromosome 9 at position 32541967, within the gene TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_31'] | ACTTACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGC... | ACTTACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGC... | pathogenic | 143,356 |
A mutation at chromosome position 32541971 on chromosome 9 in gene TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_31'] | ACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGCACCA... | ACATAAATATTTGTCTTAACAGTCCATAAGCACCATCAAGGCAGGGAGCATAACTGCTTTGCTCTATTGATAAAACAGAACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGCACCA... | pathogenic | 143,357 |
A genetic variant on chromosome 9, position 32542050, affects the gene TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_31', 'TOPORS-related_disorder'] | ACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGCACCACTGAACTCCAGCCTAGGCAACAGAGCCAGACTCCAACTCAAAAAAAAAAACAACAACAACAACAAAAAAAAAAACCCCA... | ACCGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGGTCAGGGGTTTGAGACCAGTCTGGCCAACATAGTGAAACCCCGCCTCTACTAAAAACACAAAAATTAACCGGACATGGTGGCGCGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAAGTGAGATTGCACCACTGAACTCCAGCCTAGGCAACAGAGCCAGACTCCAACTCAAAAAAAAAAACAACAACAACAACAAAAAAAAAAACCCCA... | pathogenic | 143,360 |
Located at chromosome 9 position 32974555, the variant affecting gene APTX (aprataxin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia'] | AGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACG... | AGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACG... | pathogenic | 143,391 |
Is the genetic variant on chromosome 9, position 32974572, gene APTX (aprataxin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCC... | CCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCC... | benign | 143,392 |
Considering the variant on chromosome 9, location 32974572, involving gene APTX (aprataxin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCC... | CCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCC... | benign | 143,393 |
Variant at chromosome 9, position 32984804, gene APTX (aprataxin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia'] | AGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAG... | AGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAG... | pathogenic | 143,395 |
Does the variant on chromosome 9 at location 32986032 affecting gene APTX (aprataxin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTT... | GATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTT... | benign | 143,402 |
Mutation found at chromosome 9 position 32986032, gene APTX (aprataxin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTT... | GATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTT... | benign | 143,403 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 32986033, gene APTX (aprataxin). What disease(s) is it linked to if pathogenic? | benign | ATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTT... | ATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTT... | benign | 143,404 |
Evaluate if the mutation on chromosome 9 at position 32986034 in APTX (aprataxin) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTG... | TGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTG... | benign | 143,405 |
Gene APTX (aprataxin) variant at chromosome 9, position 32986035—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGA... | GACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGA... | benign | 143,406 |
Does the chromosome 9 mutation at position 32986038 within gene APTX (aprataxin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGA... | TAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGA... | benign | 143,407 |
Does the variant impacting APTX (aprataxin) on chromosome 9, position 32986041, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATC... | AATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATC... | benign | 143,408 |
Clinically, how would you classify the variant at chromosome 9, position 32986042, gene APTX (aprataxin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCT... | ATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCT... | benign | 143,410 |
Variant in APTX (aprataxin), chromosome 9, position 32986042—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCT... | ATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCT... | benign | 143,411 |
Evaluate this variant at chromosome 9, position 33113895, gene B4GALT1 (beta-1,4-galactosyltransferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACAGGCAAGAGGCAAAGGAACAAAAAGGGAGACGAAGGAAGGAATGAGAAAGGCAGGGGAAAAGAGGAAGGAGGAAGAACTGGTAACAAAGGGTGGGCCACGGAGTGTGGCTAGC... | CCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACAGGCAAGAGGCAAAGGAACAAAAAGGGAGACGAAGGAAGGAATGAGAAAGGCAGGGGAAAAGAGGAAGGAGGAAGAACTGGTAACAAAGGGTGGGCCACGGAGTGTGGCTAGC... | benign | 143,450 |
Is the variant located on chromosome 9 at position 34343180, gene NUDT2 (nudix hydrolase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Complex_neurodevelopmental_disorder', 'Intellectual_developmental_disorder_with_or_without_peripheral_neuropathy', 'Intellectual_disability', 'NUDT2-associated_condition'] | TACTATGAATAGGAATATTCACACTTGTCTCCGGATCACATGAGTCACACTGCCTTGTTCCTCTCACTACCTGATGTCAGTGGACCTCTCCTAATCCTTTCCTGCTTCGGCAGAAGCTACCCTGTTAATTAACACTGATGGACAGAATACTGAATAGATGCCCCTGGGAGGGGTGTGCTCAGGGACTTCCATACACCTCTGAGGGGAGGTAGGACGTCCTGAGTCAGTATCACCCATCACTACTAGCATCCCTCCCACCTTGCTCCCCTGATGCATTACCTGTCTGTCTTTGTGTACACCACTATAGGAGGTGCTTGTGC... | TACTATGAATAGGAATATTCACACTTGTCTCCGGATCACATGAGTCACACTGCCTTGTTCCTCTCACTACCTGATGTCAGTGGACCTCTCCTAATCCTTTCCTGCTTCGGCAGAAGCTACCCTGTTAATTAACACTGATGGACAGAATACTGAATAGATGCCCCTGGGAGGGGTGTGCTCAGGGACTTCCATACACCTCTGAGGGGAGGTAGGACGTCCTGAGTCAGTATCACCCATCACTACTAGCATCCCTCCCACCTTGCTCCCCTGATGCATTACCTGTCTGTCTTTGTGTACACCACTATAGGAGGTGCTTGTGC... | pathogenic | 143,485 |
Considering the variant on chromosome 9, location 34371222, involving gene MYORG (myogenesis regulating glycosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TTCAAGATGAGTTTTAGGTGGGGACACAGCCAAACCATATCAGGTGGGGAAACGGATGCATTCTCTAGGGGGTAGGGGACTGGTTTTGCTACCAGAGCTGTTGATGGAAGCTAAAGTTCACCCTGTTTCCCACCGACCCGCTCTGGCATGCCACTTTTCTCCAGACTCAGCTGCAAAGTCAGAAAAAACTCACTCCGGCTGAGGTTGCTCTTCTTAGAAAGAGAAAATGGCTGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGTGCATCACTAGGTCAGGAGTTTGAGACTAGCCTGGCC... | TTCAAGATGAGTTTTAGGTGGGGACACAGCCAAACCATATCAGGTGGGGAAACGGATGCATTCTCTAGGGGGTAGGGGACTGGTTTTGCTACCAGAGCTGTTGATGGAAGCTAAAGTTCACCCTGTTTCCCACCGACCCGCTCTGGCATGCCACTTTTCTCCAGACTCAGCTGCAAAGTCAGAAAAAACTCACTCCGGCTGAGGTTGCTCTTCTTAGAAAGAGAAAATGGCTGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGTGCATCACTAGGTCAGGAGTTTGAGACTAGCCTGGCC... | pathogenic | 143,487 |
Determine if the mutation at chromosome 9, position 34459054 in gene DNAI1 (dynein axonemal intermediate chain 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['DNAI1-related_disorder', 'Inborn_genetic_diseases', 'Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | TTATAGGCCCAAGGGTAGACCTGTTTCTGGCCACCCTGCCTAACACAGAAGCAGAACTTCAGAACTTGGAGAACTCAGCTCTGCTCCAGCCAGCACAGCTCAGAGAAATGGGGCATCCACACTTTCGGATTTGTAGCCCACCTTGCCTCCTTCCAATTCCAGCTCAGGCTCCAGGGGGATAAAGCGAACACAGCCTAGACATTCCCTCTCTTCCCCCCTCACTATACGAGCTGGCTAGGCCTCCACGTCTCCCACCCGGTTGCCTGACAGACAAGCGAGGTCAGGGAGCCCCCTGGGCGGTGGCCAGCAAGCATGGTCTC... | TTATAGGCCCAAGGGTAGACCTGTTTCTGGCCACCCTGCCTAACACAGAAGCAGAACTTCAGAACTTGGAGAACTCAGCTCTGCTCCAGCCAGCACAGCTCAGAGAAATGGGGCATCCACACTTTCGGATTTGTAGCCCACCTTGCCTCCTTCCAATTCCAGCTCAGGCTCCAGGGGGATAAAGCGAACACAGCCTAGACATTCCCTCTCTTCCCCCCTCACTATACGAGCTGGCTAGGCCTCCACGTCTCCCACCCGGTTGCCTGACAGACAAGCGAGGTCAGGGAGCCCCCTGGGCGGTGGCCAGCAAGCATGGTCTC... | pathogenic | 143,502 |
A genetic alteration at chromosome 9, position 34485237, in gene DNAI1 (dynein axonemal intermediate chain 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | TGGGCTCCGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGTGGGGGGCTGAAGGGCTCCTCAAATGCCACAAAGTGGGAGCCCAGGCAGGGGAGGTGCCGAGAGCAAGCGAGGGCTCTGAGGACTGCCAGCACGCTGTCACCTCTCACTTTGACTGTGAGATCCCTGGGCAGGAGCCTCCCTGAAATACTGTTTATGATATTTCCATGTCAATTTGCTTATGACTTACCTTCTGTTTTCTGTTCTTCATTTAGAGCATCAGCATAGGCAGAGGAACCAGGAAGAGAGTAAGTGCTGAGACTACCATGGTCTCTC... | TGGGCTCCGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGTGGGGGGCTGAAGGGCTCCTCAAATGCCACAAAGTGGGAGCCCAGGCAGGGGAGGTGCCGAGAGCAAGCGAGGGCTCTGAGGACTGCCAGCACGCTGTCACCTCTCACTTTGACTGTGAGATCCCTGGGCAGGAGCCTCCCTGAAATACTGTTTATGATATTTCCATGTCAATTTGCTTATGACTTACCTTCTGTTTTCTGTTCTTCATTTAGAGCATCAGCATAGGCAGAGGAACCAGGAAGAGAGTAAGTGCTGAGACTACCATGGTCTCTC... | pathogenic | 143,503 |
Gene DNAI1 (dynein axonemal intermediate chain 1) variant at chromosome 9, position 34485449—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia'] | TGTCAATTTGCTTATGACTTACCTTCTGTTTTCTGTTCTTCATTTAGAGCATCAGCATAGGCAGAGGAACCAGGAAGAGAGTAAGTGCTGAGACTACCATGGTCTCTCAGCAAGATGCTAATAGTGTTTTTTTTGTTGAAAATATTATTTATGTGTTTTTAGAAAATGCAAATGAACTAAAAGAAGAATGTTAAAATCACCCTTAAACCTACCACCTTATAATAACTTTAGTTAACATGTGATGTTACATCCTCTCAGATATTTTTATGCATATATAAAATTACATGTATTTATTATTTTTCTTTGGAGGAATAAGAGAG... | TGTCAATTTGCTTATGACTTACCTTCTGTTTTCTGTTCTTCATTTAGAGCATCAGCATAGGCAGAGGAACCAGGAAGAGAGTAAGTGCTGAGACTACCATGGTCTCTCAGCAAGATGCTAATAGTGTTTTTTTTGTTGAAAATATTATTTATGTGTTTTTAGAAAATGCAAATGAACTAAAAGAAGAATGTTAAAATCACCCTTAAACCTACCACCTTATAATAACTTTAGTTAACATGTGATGTTACATCCTCTCAGATATTTTTATGCATATATAAAATTACATGTATTTATTATTTTTCTTTGGAGGAATAAGAGAG... | pathogenic | 143,505 |
Determine if the mutation at chromosome 9, position 34489393 in gene DNAI1 (dynein axonemal intermediate chain 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['DNAI1-related_disorder', 'Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | CCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCAGAAACATTTCTTGAAAGGTGCTACTTGTGAGTTTTGCGAATGGCTTCCCTTGGGAAGCCCGAAAAGGTCAGAGGGAAGCTGCCTTATCCTCCCTGATGTTTTGCTGGAGCACAGTACACTCTATGGGCTCCTGTTCTTCTGACATCTGAAAGAGGACCTCTGTAGGACTCAGTGTGC... | CCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCAGAAACATTTCTTGAAAGGTGCTACTTGTGAGTTTTGCGAATGGCTTCCCTTGGGAAGCCCGAAAAGGTCAGAGGGAAGCTGCCTTATCCTCCCTGATGTTTTGCTGGAGCACAGTACACTCTATGGGCTCCTGTTCTTCTGACATCTGAAAGAGGACCTCTGTAGGACTCAGTGTGC... | pathogenic | 143,511 |
Variant on chromosome 9, at position 34490430, affecting DNAI1 (dynein axonemal intermediate chain 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | ACTTTTAAATACAGAGCTTCCCAACCTGTGTGATGGCGATCCTTCCAGCCCTCCAGGGGCAGGGAGATCTGTGCAACTGGACCCCATGAACTGGTTTCCTCTACTGTGAGTTTACCGTAGTGTGCCATACAAACATAGTTTCTATATGGCTTGAAAAGGGTTTGCATATCTGTTTTAAAAGAAGGAAGAGATCTCCGGTCTCTAAGTCAATTTTAGTGGTTGCAAGGGTGCTGATCAATGAGGAGGCTATCTGCAGGAACCAGACTACAAGCTCTGTGAAATAAGGGATTGTGTCTACTTTTTCTCAGCTTTATATCCCA... | ACTTTTAAATACAGAGCTTCCCAACCTGTGTGATGGCGATCCTTCCAGCCCTCCAGGGGCAGGGAGATCTGTGCAACTGGACCCCATGAACTGGTTTCCTCTACTGTGAGTTTACCGTAGTGTGCCATACAAACATAGTTTCTATATGGCTTGAAAAGGGTTTGCATATCTGTTTTAAAAGAAGGAAGAGATCTCCGGTCTCTAAGTCAATTTTAGTGGTTGCAAGGGTGCTGATCAATGAGGAGGCTATCTGCAGGAACCAGACTACAAGCTCTGTGAAATAAGGGATTGTGTCTACTTTTTCTCAGCTTTATATCCCA... | pathogenic | 143,518 |
Evaluate if the mutation on chromosome 9 at position 34497182 in DNAI1 (dynein axonemal intermediate chain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | ATTTGTCTGATCTGAATAATTAGGTAGGAAAGGAGGAAAGGGCTCACAGGCTGCAAGTTCAGTGAGAACTAATAAAGATGTGTGGCTGCTCCAGTAGCATAGTATCTGGGACAAGGGAGGTGACAGCCCACAACACTCTCCTCAGAACACAACTGGAAACCTGCATCTCCCAGGGCCAGGAGAGGAGTGGTCAGACTGGGGAGGCACTGGCTCACTGTGTGGGTCTGAGAGCATGGACCCTGGAACCTACAGACCTGGATTTATATCCTGGCTTTGCCATTTGTTAGCTCAGTTTTTCTGAAACCTCAGTTTCTTCATCT... | ATTTGTCTGATCTGAATAATTAGGTAGGAAAGGAGGAAAGGGCTCACAGGCTGCAAGTTCAGTGAGAACTAATAAAGATGTGTGGCTGCTCCAGTAGCATAGTATCTGGGACAAGGGAGGTGACAGCCCACAACACTCTCCTCAGAACACAACTGGAAACCTGCATCTCCCAGGGCCAGGAGAGGAGTGGTCAGACTGGGGAGGCACTGGCTCACTGTGTGGGTCTGAGAGCATGGACCCTGGAACCTACAGACCTGGATTTATATCCTGGCTTTGCCATTTGTTAGCTCAGTTTTTCTGAAACCTCAGTTTCTTCATCT... | pathogenic | 143,525 |
Regarding the variant found on chromosome 9 at position 34506747 in gene DNAI1 (dynein axonemal intermediate chain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | AGCCCAGCTGCTGGAGAGGCTGAGCCCAGCTCGGCACCATGGCCTCTGGGCCATGCTTGAGGTTTTGAACCCTCTAGCAACTGATAACCTTCTTTAGAGCAGCCTTGGGCTAGTCCCCTGCCTTTGGAAACTGTGAACGTCCTAACACAAGGGGAATTTTTGTTCCTGGAGTCGAAGGTGGCAAGGCTGAGGTATGGGAAATGGAGAGAGGGTTTCATTATTGTCATCAGAAGGGCGGAGGAGCATTGCATCCATCCAGCTGACTTCTAGAGGGACGGCTTCCAAACCATCCCAGAAAAAAAAAAGTGCCATCTATGGGA... | AGCCCAGCTGCTGGAGAGGCTGAGCCCAGCTCGGCACCATGGCCTCTGGGCCATGCTTGAGGTTTTGAACCCTCTAGCAACTGATAACCTTCTTTAGAGCAGCCTTGGGCTAGTCCCCTGCCTTTGGAAACTGTGAACGTCCTAACACAAGGGGAATTTTTGTTCCTGGAGTCGAAGGTGGCAAGGCTGAGGTATGGGAAATGGAGAGAGGGTTTCATTATTGTCATCAGAAGGGCGGAGGAGCATTGCATCCATCCAGCTGACTTCTAGAGGGACGGCTTCCAAACCATCCCAGAAAAAAAAAAGTGCCATCTATGGGA... | pathogenic | 143,543 |
For chromosome 9, position 34512141, gene DNAI1 (dynein axonemal intermediate chain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | GAGATACTGTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAG... | GAGATACTGTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAG... | pathogenic | 143,549 |
Does the variant impacting DNAI1 (dynein axonemal intermediate chain 1) on chromosome 9, position 34513120, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | TCTTGGCCTCCCTCACTGGTCCTCTGCTAGTGACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGG... | TCTTGGCCTCCCTCACTGGTCCTCTGCTAGTGACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGG... | pathogenic | 143,561 |
Mutation found at chromosome 9 position 34513151, gene DNAI1 (dynein axonemal intermediate chain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | GACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGGGAGCAAAGTTCTGGGAGCAGGAGTTAGTAGC... | GACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGGGAGCAAAGTTCTGGGAGCAGGAGTTAGTAGC... | pathogenic | 143,563 |
Regarding the variant found on chromosome 9 at position 34514466 in gene DNAI1 (dynein axonemal intermediate chain 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia'] | CCAGTGGGTAGGAGCCCCAGCCCTCTCACCTCCAGGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACT... | CCAGTGGGTAGGAGCCCCAGCCCTCTCACCTCCAGGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACT... | pathogenic | 143,568 |
Chromosome 9, position 34635727, gene SIGMAR1 (sigma non-opioid intracellular receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_16', 'Autosomal_recessive_distal_spinal_muscular_atrophy_2'] | TCCATTTTTAAAATACCAGGAATCCTGAGAAGCAGGAGTGATCTATGCCTTACCCTCAGAACAGGGCCAGGACGAGGGTGAGGCATGCTTGGTGTGTAAAATGCAGAAGTTAAGGCAAGAGCAGGGTCTTTGGGAATGAATGCACTTTAGGCACCTCTCTTGCCTTACCTGAGTCCAGGCCCTACCTACCTCACATACTGCCAGGTAGTGTGCCTTCCTTTCATTGTGGGAGCCTCCACATTAGTGGTGGGTCCTGGAGAAGGCAGACCATAGACTGGAGGATCTCCTGTTTTGGGTGGGGGCAGACACTACTCTGGGAG... | TCCATTTTTAAAATACCAGGAATCCTGAGAAGCAGGAGTGATCTATGCCTTACCCTCAGAACAGGGCCAGGACGAGGGTGAGGCATGCTTGGTGTGTAAAATGCAGAAGTTAAGGCAAGAGCAGGGTCTTTGGGAATGAATGCACTTTAGGCACCTCTCTTGCCTTACCTGAGTCCAGGCCCTACCTACCTCACATACTGCCAGGTAGTGTGCCTTCCTTTCATTGTGGGAGCCTCCACATTAGTGGTGGGTCCTGGAGAAGGCAGACCATAGACTGGAGGATCTCCTGTTTTGGGTGGGGGCAGACACTACTCTGGGAG... | pathogenic | 143,591 |
Chromosome 9, position 34637288, gene SIGMAR1 (sigma non-opioid intracellular receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_16', 'Autosomal_recessive_distal_spinal_muscular_atrophy_2'] | TACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGG... | TACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGG... | pathogenic | 143,598 |
Determine whether the variant at chromosome 9, position 34637677, in gene SIGMAR1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_16', 'Autosomal_recessive_distal_spinal_muscular_atrophy_2', 'Inborn_genetic_diseases'] | TGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGT... | TGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGT... | pathogenic | 143,602 |
Gene mutation in SIGMAR1 at chromosome 9, position 34637678—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Amyotrophic_lateral_sclerosis_type_16', 'Autosomal_recessive_distal_spinal_muscular_atrophy_2', 'Inborn_genetic_diseases'] | GGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTG... | GGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTG... | pathogenic | 143,603 |
Gene mutation in GALT (galactose-1-phosphate uridylyltransferase) at chromosome 9, position 34646720—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTG... | GGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTG... | pathogenic | 143,609 |
Classify the chromosome 9 variant at position 34646745 affecting gene GALT (galactose-1-phosphate uridylyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'GALT-related_disorder'] | CAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGA... | CAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGA... | pathogenic | 143,610 |
A genetic variant on chromosome 9, position 34646775, affects the gene GALT (galactose-1-phosphate uridylyltransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | TGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTA... | TGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTA... | pathogenic | 143,611 |
Clinical significance of chromosome 9, position 34646787, gene GALT (galactose-1-phosphate uridylyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTC... | GCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTC... | pathogenic | 143,612 |
Chromosome 9, position 34647218, gene GALT: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | TCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCT... | TCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCT... | pathogenic | 143,619 |
Chromosome 9, position 34647525, gene GALT (galactose-1-phosphate uridylyltransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'GALT-related_disorder', 'Galactosemia'] | AGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCC... | AGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCC... | pathogenic | 143,624 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 34647853, gene GALT (galactose-1-phosphate uridylyltransferase): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'Galactosemia'] | CCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTT... | CCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTT... | pathogenic | 143,641 |
Is the genetic mutation found on chromosome 9 at position 34648117, within the gene GALT (galactose-1-phosphate uridylyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAA... | GAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAA... | pathogenic | 143,663 |
Evaluate this variant at chromosome 9, position 34648330, gene GALT (galactose-1-phosphate uridylyltransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | AAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGC... | AAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGC... | pathogenic | 143,673 |
The mutation in gene GALT (galactose-1-phosphate uridylyltransferase) at chromosome 9, position 34648364—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'Galactosemia'] | TGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTG... | TGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTG... | pathogenic | 143,676 |
Clinical significance of chromosome 9, position 34648420, gene GALT (galactose-1-phosphate uridylyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'Galactosemia'] | ATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATC... | ATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATC... | pathogenic | 143,689 |
Is the chromosome 9, position 34648437 variant in GALT (galactose-1-phosphate uridylyltransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGT... | GATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGT... | pathogenic | 143,693 |
Variant chromosome 9, position 34648748, gene GALT (galactose-1-phosphate uridylyltransferase): benign or pathogenic? Disease(s)? | benign | GCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGC... | GCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGC... | benign | 143,695 |
Does the variant on chromosome 9 at location 34648786 affecting gene GALT (galactose-1-phosphate uridylyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | CAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCT... | CAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCT... | pathogenic | 143,699 |
Determine if the mutation at chromosome 9, position 34648834 in gene GALT (galactose-1-phosphate uridylyltransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGC... | GGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGC... | pathogenic | 143,703 |
Gene GALT (galactose-1-phosphate uridylyltransferase) variant at chromosome 9, position 34648864—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | GGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTG... | GGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTG... | pathogenic | 143,709 |
Benign or pathogenic: chromosome 9, position 34649414, gene GALT (galactose-1-phosphate uridylyltransferase) variant? Disease(s) if pathogenic? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | CACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCA... | CACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCA... | pathogenic | 143,726 |
Is the genetic change at chromosome 9, position 34649552, within gene GALT (galactose-1-phosphate uridylyltransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase'] | TACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCA... | TACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCA... | pathogenic | 143,745 |
Classify the chromosome 9 variant at position 34649553 affecting gene GALT (galactose-1-phosphate uridylyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase', 'Galactosemia'] | ACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCAC... | ACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCAC... | pathogenic | 143,746 |
Assess the variant on chromosome 9, position 34660951, impacting IL11RA (interleukin 11 receptor subunit alpha): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCC... | AAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCC... | benign | 143,770 |
Considering the genetic mutation at chromosome 9, position 35061559, impacting VCP (valosin containing protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCAC... | GCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCAC... | benign | 143,791 |
Chromosome 9, position 35061696, gene VCP (valosin containing protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCT... | CATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCT... | benign | 143,793 |
Variant chromosome 9, position 35064302, gene VCP (valosin containing protein): benign or pathogenic? Disease(s)? | benign | ATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACT... | ATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACT... | benign | 143,806 |
Chromosome 9, position 35074172, gene FANCG (FA complementation group G): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['FANCG-related_disorder', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_G'] | ACGCAAGCCCCGCCTAGGGGGCGCGCGGGTGCGCAGCTGGCCCCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCT... | ACGCAAGCCCCGCCTAGGGGGCGCGCGGGTGCGCAGCTGGCCCCAGCCGGGCCTGCCGGGTCCACGGCCCCTCACTCGCCCCCTAGCTTCCCTTCCCTCTTTCCTGGTCTCCACCTCTCTGACGCGCCCACGGCCAGGCCCCGCCGGGCCTACCCTGCGCGGCTGGTCCCGGTGCGCGCCGCCGCAGCAAGCGAACGGCGCGCGCACACTCACTCGGCTCCAGAAGCCATGGCGCGCGCCTCTCCCGGCCGGCGGCTGTGGCGGCCCGCGGGTAACGGCTACGAGCGGTGGCAAGCGACCGACTGGGCCGGGGCTCGGCT... | pathogenic | 143,829 |
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