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 |
|---|---|---|---|---|---|
Does the chromosome 3 mutation at position 81761470 within gene GBE1 (1,4-alpha-glucan branching enzyme 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | GCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTG... | GCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTG... | pathogenic | 71,454 |
Variant chromosome 3, position 81761491, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic'] | TGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTA... | TGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTA... | pathogenic | 71,455 |
Does the variant impacting GBE1 (1,4-alpha-glucan branching enzyme 1) on chromosome 3, position 81761551, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTATAAATGCTTCAATCCCAGTGGAGTTGGAAATAAAGTACATGAAAGAAACACTTAATAAAG... | AAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTATAAATGCTTCAATCCCAGTGGAGTTGGAAATAAAGTACATGAAAGAAACACTTAATAAAG... | benign | 71,458 |
Variant at chromosome 3, position 93924246, gene PROS1 (protein S): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive'] | TTCACCAACTTATCTTAGAAACTAAAAATAATTTCTTTTTTTTATTTTTCAGGTTTTTTCCTTATTTTATTTTTTGCCAGCTCACATCAAAAAATGATTTCTAATGTTTATATTTAGGCTCAGAGTTCACCATTCTTCCCAGGAAGTTTCTCTCTCTTTACTAGAAACACTCACTCTATTAGGTGATACTAGGCCTATGGAAATGGTAGTTATTTATTCCACTTCTTACAAAAGAGAAGAACACAATTTAAAAACTATAATGAAACCCAGAGTACTTATTTCCAAATCGCATGTTTTCAAGATAGTACATGGAATATGTA... | TTCACCAACTTATCTTAGAAACTAAAAATAATTTCTTTTTTTTATTTTTCAGGTTTTTTCCTTATTTTATTTTTTGCCAGCTCACATCAAAAAATGATTTCTAATGTTTATATTTAGGCTCAGAGTTCACCATTCTTCCCAGGAAGTTTCTCTCTCTTTACTAGAAACACTCACTCTATTAGGTGATACTAGGCCTATGGAAATGGTAGTTATTTATTCCACTTCTTACAAAAGAGAAGAACACAATTTAAAAACTATAATGAAACCCAGAGTACTTATTTCCAAATCGCATGTTTTCAAGATAGTACATGGAATATGTA... | pathogenic | 71,518 |
Regarding the variant found on chromosome 3 at position 93973700 in gene PROS1 (protein S): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Protein_S_deficiency_disease', 'Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant'] | CACACACACACACACACACATAAATTAGCTGGGTGCGGTGCTAGATAGGTGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATAT... | CACACACACACACACACACATAAATTAGCTGGGTGCGGTGCTAGATAGGTGCTGATCTGGGAGGATCCCATGAGCTCGGGAGGGGGAGGTTGCCATGAGCTATGATCATGCCACTGCACTCCAGCCTTAGTGACAGAACTAGACCGTCTCAAAAAAGTAAATAAATAAAAATAAAGTAAAATCAAATCATATGGATTAAAAACATCACATCTATATCCAAATTTCCTCATAAGTAAACCACAGATGACTTTTAATCCAATTAAGCAATCAAAAACTTTTAACTGAAAGCATTATGGGGCCAACTATTCTTTATGTGATAT... | pathogenic | 71,522 |
Does the genetic variant at chromosome 3, position 93995884, impacting gene ARL13B (ARF like GTPase 13B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Joubert_syndrome_8'] | TCCTAGACCTTGCCCACTACCTCTTCTCCATAAATCTATAATCTGCTGTGGGTCTTTGTGGCATTCCCACTGGCTTCGCCACCAGCCAATTGAGAATGGGGCCCTGGAGTGCTGCTTATTGTGATTTACCTTATTCTTGCACTGAGTCAAGTATAGACACAGCTTCTGTTTATTTCCCATGCTAGGTATGGGATGGTTGAAACATCTAGAAAAGATAAAGGCTTCTAGATAACAGAGGAAATTAACATGGAATTCGTTTTACTCATAGTAGAAGTCAGAATCCTCACAATGGCCTATGGTCTAACATGAACTGGTCTCTG... | TCCTAGACCTTGCCCACTACCTCTTCTCCATAAATCTATAATCTGCTGTGGGTCTTTGTGGCATTCCCACTGGCTTCGCCACCAGCCAATTGAGAATGGGGCCCTGGAGTGCTGCTTATTGTGATTTACCTTATTCTTGCACTGAGTCAAGTATAGACACAGCTTCTGTTTATTTCCCATGCTAGGTATGGGATGGTTGAAACATCTAGAAAAGATAAAGGCTTCTAGATAACAGAGGAAATTAACATGGAATTCGTTTTACTCATAGTAGAAGTCAGAATCCTCACAATGGCCTATGGTCTAACATGAACTGGTCTCTG... | pathogenic | 71,526 |
A genetic variant at chromosome 3, position 94035340, affecting gene ARL13B (ARF like GTPase 13B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Joubert_syndrome_8'] | AAAGCCCAGACCTCACCACTATGCAATATATCACCACTATGCAATACATTTACATCACAAAACTGCACTCATAATCCTTAAATTTATAGGATTTTTTTTTTTTAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATA... | AAAGCCCAGACCTCACCACTATGCAATATATCACCACTATGCAATACATTTACATCACAAAACTGCACTCATAATCCTTAAATTTATAGGATTTTTTTTTTTTAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATA... | pathogenic | 71,533 |
Gene mutation in ARL13B (ARF like GTPase 13B) at chromosome 3, position 94035442—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATAATAGAATTAAGTAAAGGTCATCAATGGCTGCTAAAATCATTAAGTGAAAGATTAATGAGGAACTTTATTTTGGATGGATCAGGCTAAATGTAAATCCATTAG... | TAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATAATAGAATTAAGTAAAGGTCATCAATGGCTGCTAAAATCATTAAGTGAAAGATTAATGAGGAACTTTATTTTGGATGGATCAGGCTAAATGTAAATCCATTAG... | benign | 71,534 |
Chromosome 3, position 94035442, gene ARL13B (ARF like GTPase 13B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATAATAGAATTAAGTAAAGGTCATCAATGGCTGCTAAAATCATTAAGTGAAAGATTAATGAGGAACTTTATTTTGGATGGATCAGGCTAAATGTAAATCCATTAG... | TAAATCAACCTGATCACCTTCGGAGGTTGCTACGCCATTAATTCATTATTTTGAAAATCAGGAAATAAAGGCAAAGGATCAAACATTTATCTTGACTTTGTGAATTTTAAGAGGCACCAAGTAGTTGGTGAAAGCTTATTTTTAGCAAGAATCCTGCTAGTAAATGCAGAAGGAATATGGAACTATAAAGTTACTGTTTCATAAACTTTGGTAAAATAATAGAATTAAGTAAAGGTCATCAATGGCTGCTAAAATCATTAAGTGAAAGATTAATGAGGAACTTTATTTTGGATGGATCAGGCTAAATGTAAATCCATTAG... | benign | 71,535 |
The chromosome 3, position 94036612 genetic variant in gene ARL13B (ARF like GTPase 13B): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Joubert_syndrome_8'] | GTCTTCAGTAAATTGCACATTTATGTGGACACATTCACACATTAGAATTGTAGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTA... | GTCTTCAGTAAATTGCACATTTATGTGGACACATTCACACATTAGAATTGTAGATGAGCTCAAATATTAAAAGTTCAGAATGAATATTTGGGCATTTAAAACATTACAGTTTGTATTTTAAGAAGATAAGAATATAATTTATGGATGTGACCTGTGGAAATTAGTCCTCTTATTTTTCTGTTTTGTAGCTTTTTCTGTTTTGTTGGCATATTGATCTCTTGTTTATGTTTTCTTGACACTTTATTTGATTTTCCTTTTATAGGCCAGTACTTAAAAACTATTTTAGCAATAATAAGGGAAAAATGACAAAATTGATGCTA... | pathogenic | 71,536 |
A mutation at chromosome position 94043038 on chromosome 3 in gene ARL13B (ARF like GTPase 13B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Joubert_syndrome_8', 'Joubert_syndrome_and_related_disorders'] | AATAAGTGGCATGGGGAAAGTACACTTAACGCTTTGAAACTACAATTTCAAGAAGATGGCCAGTAAAGAAATAAAAGCAAATTAGCTATAGTTTTTTTTTTTTAACCATACAGATTTTCTCTTTTTTTCCCCACAAAACTTTTTTAGCATGTTTCTTGGTACAGAAGCACCTAACATTTTTTTTTATTATTACTGCAGATAATTAAAATGGTGAGATATTGGAAGGTATTGGTTCCAGAAGAGACAGACAGATCAATGGAACGAATATTAATAAACCTATTTATGTATGAGCATTTTAGTACAAGATAAAGATAACATTT... | AATAAGTGGCATGGGGAAAGTACACTTAACGCTTTGAAACTACAATTTCAAGAAGATGGCCAGTAAAGAAATAAAAGCAAATTAGCTATAGTTTTTTTTTTTTAACCATACAGATTTTCTCTTTTTTTCCCCACAAAACTTTTTTAGCATGTTTCTTGGTACAGAAGCACCTAACATTTTTTTTTATTATTACTGCAGATAATTAAAATGGTGAGATATTGGAAGGTATTGGTTCCAGAAGAGACAGACAGATCAATGGAACGAATATTAATAAACCTATTTATGTATGAGCATTTTAGTACAAGATAAAGATAACATTT... | pathogenic | 71,539 |
Gene mutation in ARL13B (ARF like GTPase 13B) at chromosome 3, position 94043141—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Joubert_syndrome_8'] | AACCATACAGATTTTCTCTTTTTTTCCCCACAAAACTTTTTTAGCATGTTTCTTGGTACAGAAGCACCTAACATTTTTTTTTATTATTACTGCAGATAATTAAAATGGTGAGATATTGGAAGGTATTGGTTCCAGAAGAGACAGACAGATCAATGGAACGAATATTAATAAACCTATTTATGTATGAGCATTTTAGTACAAGATAAAGATAACATTTCAAATCTGAGAGAAAAAAATAATAGAACAACTTAATAACCATTTAGAAAAAGGAAAATTATTGAATATTGTATACCCAGTTAAATTCCAAAAGTATCAAAAAC... | AACCATACAGATTTTCTCTTTTTTTCCCCACAAAACTTTTTTAGCATGTTTCTTGGTACAGAAGCACCTAACATTTTTTTTTATTATTACTGCAGATAATTAAAATGGTGAGATATTGGAAGGTATTGGTTCCAGAAGAGACAGACAGATCAATGGAACGAATATTAATAAACCTATTTATGTATGAGCATTTTAGTACAAGATAAAGATAACATTTCAAATCTGAGAGAAAAAAATAATAGAACAACTTAATAACCATTTAGAAAAAGGAAAATTATTGAATATTGTATACCCAGTTAAATTCCAAAAGTATCAAAAAC... | pathogenic | 71,540 |
Mutation at chromosome 3, position 94050828, within ARL13B (ARF like GTPase 13B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Joubert_syndrome_8'] | GAGATGAGGTCTCCTTATGTTGCCCAGACCATTCTCTTAACTCCTGGGCTCATGCATTCCTCCTACTTCAGCCTCCCAGAGTGCTGAGATTACAGGTGTGAGCTGCCATGCATAGCCTTGTAGGGGTTATTTTAAATAAGTAACATGTTTAGATTTGTTTAGGGCCTTTTATGTCACATTTCAAAGGATTATATTTGGGCTATTTATACCTGGAATCATTCTACATATCCCACTGAGAAAAATCAAATATACTGAGTGACACAATAATGAATAGCTTCTTTTCCCAGATTATTATGAAGTTCATGGAAACTCTTGCAATT... | GAGATGAGGTCTCCTTATGTTGCCCAGACCATTCTCTTAACTCCTGGGCTCATGCATTCCTCCTACTTCAGCCTCCCAGAGTGCTGAGATTACAGGTGTGAGCTGCCATGCATAGCCTTGTAGGGGTTATTTTAAATAAGTAACATGTTTAGATTTGTTTAGGGCCTTTTATGTCACATTTCAAAGGATTATATTTGGGCTATTTATACCTGGAATCATTCTACATATCCCACTGAGAAAAATCAAATATACTGAGTGACACAATAATGAATAGCTTCTTTTCCCAGATTATTATGAAGTTCATGGAAACTCTTGCAATT... | pathogenic | 71,548 |
Clinically, how would you classify the variant at chromosome 3, position 98588726, gene CPOX (coproporphyrinogen oxidase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | CTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACT... | CTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCAGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACAAACAAACAAAAAAGAAGCCATTTCCTAACT... | pathogenic | 71,602 |
A genetic variant at chromosome 3, position 98593373, affecting gene CPOX—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['CPOX-related_disorder', 'Coproporphyria'] | TATTAATATTGGGCAAATACTAGACCTTCTCATATCACTAAACTGAATATTTCTTCAACATTCTCCTGCCATCATCTAAAATAAATCACTGGAATATTCTCCCTTCAGATTCTACTGTTCAGAATGGCATCTATCAGTTATGATATATGAGAGAAAGCTAAGGTTAAAAATAGGAATGGGTAGACTTGAAGGGTGTTCTATTATTACTGAATTTAAGAGATCTATATTGTTTCAAAAATTTCTTTCTCAGTGGGCTGCTTGCCTTTTAATTTACAAGCAATTAAGAAACAGTAGGTAATCAAATTCTGAAGGGATTCAGA... | TATTAATATTGGGCAAATACTAGACCTTCTCATATCACTAAACTGAATATTTCTTCAACATTCTCCTGCCATCATCTAAAATAAATCACTGGAATATTCTCCCTTCAGATTCTACTGTTCAGAATGGCATCTATCAGTTATGATATATGAGAGAAAGCTAAGGTTAAAAATAGGAATGGGTAGACTTGAAGGGTGTTCTATTATTACTGAATTTAAGAGATCTATATTGTTTCAAAAATTTCTTTCTCAGTGGGCTGCTTGCCTTTTAATTTACAAGCAATTAAGAAACAGTAGGTAATCAAATTCTGAAGGGATTCAGA... | pathogenic | 71,617 |
Evaluate this variant at chromosome 3, position 100297994, gene TBC1D23 (TBC1 domain family member 23): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | TAATGAATTTGATTTGATTGCCTGACACTATCCTTCACTGACAAGAGATTTACATTAGCCGTTTCAGCTCATTTGGAGAAATCCACTTTTCCACAAGTCATTGTAAAAGCACCAGTGTTGAGACTCCATTTGCATAGTATTTATGATGAAGATATTTCGGCTCTGATACATAAACAATATTTGCATTTTTCACAAACTACTAAATATTATGTCTATAATATTTCAGAGTTCTTGGAAAATACTCCATCCAGTCTGAATATAGAAGATATAGAAGACCTTTTCTCTCTGGCTCAGTATTATTGCAGCAAAACACCGGCTTC... | TAATGAATTTGATTTGATTGCCTGACACTATCCTTCACTGACAAGAGATTTACATTAGCCGTTTCAGCTCATTTGGAGAAATCCACTTTTCCACAAGTCATTGTAAAAGCACCAGTGTTGAGACTCCATTTGCATAGTATTTATGATGAAGATATTTCGGCTCTGATACATAAACAATATTTGCATTTTTCACAAACTACTAAATATTATGTCTATAATATTTCAGAGTTCTTGGAAAATACTCCATCCAGTCTGAATATAGAAGATATAGAAGACCTTTTCTCTCTGGCTCAGTATTATTGCAGCAAAACACCGGCTTC... | pathogenic | 71,629 |
Does the variant impacting TFG (trafficking from ER to golgi regulator) on chromosome 3, position 100744807, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCGAACAAAAGATGTTATTTGAGGATCTGCTGTGTAAAAGGAATCTTGTGTAGAGATATAATAAACCTCTGAAATTTTTAACTCTAGGGATGTTTTTCAAAATCAATTTATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATG... | GTCGAACAAAAGATGTTATTTGAGGATCTGCTGTGTAAAAGGAATCTTGTGTAGAGATATAATAAACCTCTGAAATTTTTAACTCTAGGGATGTTTTTCAAAATCAATTTATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATG... | benign | 71,668 |
Clinically, how would you classify the variant at chromosome 3, position 100744807, gene TFG (trafficking from ER to golgi regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTCGAACAAAAGATGTTATTTGAGGATCTGCTGTGTAAAAGGAATCTTGTGTAGAGATATAATAAACCTCTGAAATTTTTAACTCTAGGGATGTTTTTCAAAATCAATTTATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATG... | GTCGAACAAAAGATGTTATTTGAGGATCTGCTGTGTAAAAGGAATCTTGTGTAGAGATATAATAAACCTCTGAAATTTTTAACTCTAGGGATGTTTTTCAAAATCAATTTATAGCAGTTTATGAAAACATGCAAAAAAAAAAAGCTTTATGAAGAGTTGTACCCTATAAATTTTTATTGAGGGGAATAACTGTGGTTTTGACCAGGAGTTCCTTACTCATTGATGACCACAGTCTACTACTACGTGGAACCTTAATCTCAGCCTTTTTTGATGATGCCCAAGTTAATATTTATATTGTTTTGTTCATGGGATAATATATG... | benign | 71,669 |
Variant at chromosome 3, position 101232784, gene IMPG2 (interphotoreceptor matrix proteoglycan 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy'] | ATTTGTACCTCATCAAGGCTCCTTAGCATCTTATTCTTAGTGCTACTTCTGTTTTTCTTCAATTTGACACCCCTTTGAGGACAAGGACCATGTGTTTATTCAAATTCATAGCTCTCTTCCACCCAGCCAGCTCCTTGTCCAATATTTGGCACCTGGTAAGTACTAAATAAATGTGTAAATGGAACATTGTATTCCATTAGAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACG... | ATTTGTACCTCATCAAGGCTCCTTAGCATCTTATTCTTAGTGCTACTTCTGTTTTTCTTCAATTTGACACCCCTTTGAGGACAAGGACCATGTGTTTATTCAAATTCATAGCTCTCTTCCACCCAGCCAGCTCCTTGTCCAATATTTGGCACCTGGTAAGTACTAAATAAATGTGTAAATGGAACATTGTATTCCATTAGAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACG... | pathogenic | 71,697 |
Variant on chromosome 3, at position 101232983, affecting IMPG2 (interphotoreceptor matrix proteoglycan 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | GAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACGGAGGCAATAGTGATGCCTATGATCACGGGCTCAGACACAAATTCCTCACAGTGCTTGCCTCGGTACCACCAGTTCTCACCCACCCGGCACCTGCAACCAACAGTCACCAAGTCCGATATCTGAATCACTCTGCTCACACTGACAATTAACAGCAGAACCTTCTGAGGGACTAGAGGAAAGTAGAGAAATAAATGCTGAC... | GAGAGCTCTTTTCCTTATTTACCTGAAGGGACTCTCTCTTTCACTCCTGTCATGGTGTGCTTGGAGAGTCCTGATGAAGAAGTAGATGATAGCAGAAAAGATGACAAGAAGTCCAACCACGGAGGCAATAGTGATGCCTATGATCACGGGCTCAGACACAAATTCCTCACAGTGCTTGCCTCGGTACCACCAGTTCTCACCCACCCGGCACCTGCAACCAACAGTCACCAAGTCCGATATCTGAATCACTCTGCTCACACTGACAATTAACAGCAGAACCTTCTGAGGGACTAGAGGAAAGTAGAGAAATAAATGCTGAC... | pathogenic | 71,700 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 101242706, gene IMPG2 (interphotoreceptor matrix proteoglycan 2): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | AAATCATTCCTTACAAATTATAATTAATTGCCTCTTCCACTATACCACATGACAAAGAATGTGCAAATGGCCTTAGAGAACTCAAGTGGTAAGAGATTTGGATATGAAGGATTAGTGAAACCATTTTCTTCACTTTCAATGAGTAATGATTCTTAAAGATTTCAGAAGAAAGTTCACTTCTTTCCTAAAGAATAGGGCTGACTTTCAAACCAGTTTGAGATTCAAAGGCACTGGAGAAATACAAAGCCAGGCATTCCTTCTCACTCCTCAACCTCTGTCTCTGGTATGTAGAAAGGAAGGAAGAAGAAAATTTTACATTT... | AAATCATTCCTTACAAATTATAATTAATTGCCTCTTCCACTATACCACATGACAAAGAATGTGCAAATGGCCTTAGAGAACTCAAGTGGTAAGAGATTTGGATATGAAGGATTAGTGAAACCATTTTCTTCACTTTCAATGAGTAATGATTCTTAAAGATTTCAGAAGAAAGTTCACTTCTTTCCTAAAGAATAGGGCTGACTTTCAAACCAGTTTGAGATTCAAAGGCACTGGAGAAATACAAAGCCAGGCATTCCTTCTCACTCCTCAACCTCTGTCTCTGGTATGTAGAAAGGAAGGAAGAAGAAAATTTTACATTT... | pathogenic | 71,701 |
Gene IMPG2 (interphotoreceptor matrix proteoglycan 2) variant at chromosome position 101244061 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | GAGTGAAACACCATCTCAAAAAGAAAAAAAAAAAAATTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATG... | GAGTGAAACACCATCTCAAAAAGAAAAAAAAAAAAATTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATG... | pathogenic | 71,707 |
Considering the genetic mutation at chromosome 3, position 101244062, impacting IMPG2 (interphotoreceptor matrix proteoglycan 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | AGTGAAACACCATCTCAAAAAGAAAAAAAAAAAAATTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATGC... | AGTGAAACACCATCTCAAAAAGAAAAAAAAAAAAATTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATGC... | pathogenic | 71,708 |
Variant in IMPG2 (interphotoreceptor matrix proteoglycan 2), chromosome 3, position 101244097—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinitis_pigmentosa_56'] | TTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATGCACATGGATGCAAAAACTTAAAGGGAAGATGGCCCA... | TTATCAGGTTTCCAGCTTAAGTAGCTGAGTAGATAAAGCTTACATTTATGGAGAGAGAGAGAGAGAGAAGCTGAGAGAAAGAGTAGATTTAGCTGGAGAGTGGTGAGATATGGAAAAGAAGAGCTCACTCATAGCTATCTTAAATTTGATATACACAGAATACATTCAAGTGGAGACTGTCAAGTAAGTAGATAGATATTGATTCTGGAGGTTATGAGAGATGTTTGGTCTGCATATAAAAAATGTGGAGAGTTATTGACATTTATATAAGGCTTAAGACAATGCACATGGATGCAAAAACTTAAAGGGAAGATGGCCCA... | pathogenic | 71,709 |
Evaluate the clinical significance of the mutation at chromosome 3, position 101244672 in gene IMPG2 (interphotoreceptor matrix proteoglycan 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Vitelliform_macular_dystrophy_5'] | AGAAAACACACAAGAATAATCACTGGATTCTACTAAGAAACCACCATGCTAGGCAATATCATACCTGATTCCACATCAAGAGAGTATTTATCAATAGCCAAGTTCATGGTATTGTAGGCAGTGGTACAAAAGTCTTCCAGAATCATGTACACCGCATTGTTGACGTTAGGAGGGACAGAATTGGCAAACTTCATTCGACTGTTCACCACAATGCTGCCATTTCTGAAGTTGAGGATTTCTAAGTTCTGGAACCCCGTGAGATTTGACTGGAGATAGGGAACCAGCTACAATATACAAAAGTGGTAAGTTTATTGACAGCG... | AGAAAACACACAAGAATAATCACTGGATTCTACTAAGAAACCACCATGCTAGGCAATATCATACCTGATTCCACATCAAGAGAGTATTTATCAATAGCCAAGTTCATGGTATTGTAGGCAGTGGTACAAAAGTCTTCCAGAATCATGTACACCGCATTGTTGACGTTAGGAGGGACAGAATTGGCAAACTTCATTCGACTGTTCACCACAATGCTGCCATTTCTGAAGTTGAGGATTTCTAAGTTCTGGAACCCCGTGAGATTTGACTGGAGATAGGGAACCAGCTACAATATACAAAAGTGGTAAGTTTATTGACAGCG... | pathogenic | 71,713 |
For chromosome 3, position 101244749, gene IMPG2 (interphotoreceptor matrix proteoglycan 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy'] | AAGAGAGTATTTATCAATAGCCAAGTTCATGGTATTGTAGGCAGTGGTACAAAAGTCTTCCAGAATCATGTACACCGCATTGTTGACGTTAGGAGGGACAGAATTGGCAAACTTCATTCGACTGTTCACCACAATGCTGCCATTTCTGAAGTTGAGGATTTCTAAGTTCTGGAACCCCGTGAGATTTGACTGGAGATAGGGAACCAGCTACAATATACAAAAGTGGTAAGTTTATTGACAGCGTGTCACATTTTGTTCAATACATACCCAAACAAAACAAAACAAAAACACAGGTAAGACCCTGCCTCACTTTTCCTAAT... | AAGAGAGTATTTATCAATAGCCAAGTTCATGGTATTGTAGGCAGTGGTACAAAAGTCTTCCAGAATCATGTACACCGCATTGTTGACGTTAGGAGGGACAGAATTGGCAAACTTCATTCGACTGTTCACCACAATGCTGCCATTTCTGAAGTTGAGGATTTCTAAGTTCTGGAACCCCGTGAGATTTGACTGGAGATAGGGAACCAGCTACAATATACAAAAGTGGTAAGTTTATTGACAGCGTGTCACATTTTGTTCAATACATACCCAAACAAAACAAAACAAAAACACAGGTAAGACCCTGCCTCACTTTTCCTAAT... | pathogenic | 71,715 |
Located at chromosome 3 position 101273563, the variant affecting gene IMPG2 (interphotoreceptor matrix proteoglycan 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGATAATATATTATTCCTGTTTTATGGATGAGAAAATGGAGATTGTAAGATATTAACTAACTTGGCCAAGGTCACACATTTGGTAAGTGACTGAATCAGAATGCATTCAATCCCAGATCTCTCTAACACTGAAGCCCATATTCTTCCCATTGAATTACATTGCCCCTGCCTCATGATAAATGTGCTTTAGAATTGGGACCAAGACTGGGAAAACTAAGGTTCACTATAACTTCTCCCTTGAATTAAAAGGAAGGGGACTCTGTAGAAGAAGGAGTACTTTGAAAGGCAGTAGGAGACCTGATTTTCATTTCTGTTCCTAG... | AGATAATATATTATTCCTGTTTTATGGATGAGAAAATGGAGATTGTAAGATATTAACTAACTTGGCCAAGGTCACACATTTGGTAAGTGACTGAATCAGAATGCATTCAATCCCAGATCTCTCTAACACTGAAGCCCATATTCTTCCCATTGAATTACATTGCCCCTGCCTCATGATAAATGTGCTTTAGAATTGGGACCAAGACTGGGAAAACTAAGGTTCACTATAACTTCTCCCTTGAATTAAAAGGAAGGGGACTCTGTAGAAGAAGGAGTACTTTGAAAGGCAGTAGGAGACCTGATTTTCATTTCTGTTCCTAG... | benign | 71,723 |
The chromosome 3, position 113798228 genetic variant in gene ATP6V1A (ATPase H+ transporting V1 subunit A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GGTAGCAAAAATTTTATTAGTATTAGAGTAGTATTATCCTTTAAGTCATAGTAACCCTAGTTATAGAAACAAAGAGGCCCAAAAATGTGTAATACCCAGAAGTTATTTCACTTCACAGTATGATCCAAGGCTCTCTTCTGTTTAGTGATAATTCTGAGTCCAGGATTCTTTCCATCTTGTGACTCCACTGTCACCTAGCCTGGTGATCATCTGCATCTAGCTGACACAAGGGAGCTGGGCCTTGTGGAGAAGGCATACCCACCTTTTTTGAACCTTGGATTCAAAAGTGACACAGTCACTCCACTCATTCTATTAGCCAC... | GGTAGCAAAAATTTTATTAGTATTAGAGTAGTATTATCCTTTAAGTCATAGTAACCCTAGTTATAGAAACAAAGAGGCCCAAAAATGTGTAATACCCAGAAGTTATTTCACTTCACAGTATGATCCAAGGCTCTCTTCTGTTTAGTGATAATTCTGAGTCCAGGATTCTTTCCATCTTGTGACTCCACTGTCACCTAGCCTGGTGATCATCTGCATCTAGCTGACACAAGGGAGCTGGGCCTTGTGGAGAAGGCATACCCACCTTTTTTGAACCTTGGATTCAAAAGTGACACAGTCACTCCACTCATTCTATTAGCCAC... | benign | 71,884 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 114350350, gene ZBTB20 (zinc finger and BTB domain containing 20): what disease(s) if pathogenic? | pathogenic; ['Primrose_syndrome'] | AATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTTTAAAAACTGATTCTCATAAAAGTACATACATT... | AATTTAATGGCTTATAAATCAGCTATCCAGGGGAGGAAAGGATATAAACTATGTGACAGCACTCTATAAATCATAAGATGCTACAAAATAAAAACATTACTATTTGATTAATTCACCTAATAATGGTGATATCCATACCATATGGAAAATTTCTTGTGATTTACCTCTGGTTATTAGTACATTCACATTTATCCCAAGTAAACAAAGCAACTCACCACTACCCAAGTTTCTTCATAAATTCAGTAGTGAGTCACTCTGTTTATTTGGAAGTGTGAATACTGTGATCTTTAAAAACTGATTCTCATAAAAGTACATACATT... | pathogenic | 71,918 |
The genetic variant at chromosome 3, position 114351681, affecting gene ZBTB20 (zinc finger and BTB domain containing 20): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Intellectual_disability', 'Primrose_syndrome'] | CCAATCATTGGTCTAGTTCCACCTTTTGGAGCCAAACTATACAAACTGAATGTCTCCTCCTCTTAACCATCTTAATAATAGCTACCACTTATAGAGCACTTATTATATGCTTGGAAGTACTCTAAAGACTTCACATGTATTAATTTATTCTCAAAACAGCACTATAAGGAAGGCGTATCACGATTATTCTCATTTTATACACAAGGAAACTGAAGTATAGACAAGTTAAGTAATTTTTCCAAGGCGACAAGGTTTAGTAGTAGCTAAGCCTGAATTTACACCCAGGCCATCTGGCTGGGTGTAAGAGCTCAAGCTCTTCC... | CCAATCATTGGTCTAGTTCCACCTTTTGGAGCCAAACTATACAAACTGAATGTCTCCTCCTCTTAACCATCTTAATAATAGCTACCACTTATAGAGCACTTATTATATGCTTGGAAGTACTCTAAAGACTTCACATGTATTAATTTATTCTCAAAACAGCACTATAAGGAAGGCGTATCACGATTATTCTCATTTTATACACAAGGAAACTGAAGTATAGACAAGTTAAGTAATTTTTCCAAGGCGACAAGGTTTAGTAGTAGCTAAGCCTGAATTTACACCCAGGCCATCTGGCTGGGTGTAAGAGCTCAAGCTCTTCC... | pathogenic | 71,931 |
Gene mutation in HCLS1 (hematopoietic cell-specific Lyn substrate 1) at chromosome 3, position 121632468—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTTGTCCAACCTGCCTTATTGTGTTGTTGTTCTGTTTTGTTTTGTTTTAGGCTTTTAGCAGCCTGAAGCCATGGTTTTTAGTTTCTGTCTCTAGTGATAAGCAGAACAGAGGAATGACAAAGGGGCTTTACTGGCCCAACCAGAAACAGAAACTATGAACCCATGGCTGAATTCTCTCCCTTGGACACCCTGCTGGGCAGCTCACCAACTCTATGAAGCCCTGGAGCAACTAACTGTGGGTCTTAGCAACCATTCTAGCTCCTCCTTGATCCCAGTGCCTTCTCCATCTTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTT... | CTTGTCCAACCTGCCTTATTGTGTTGTTGTTCTGTTTTGTTTTGTTTTAGGCTTTTAGCAGCCTGAAGCCATGGTTTTTAGTTTCTGTCTCTAGTGATAAGCAGAACAGAGGAATGACAAAGGGGCTTTACTGGCCCAACCAGAAACAGAAACTATGAACCCATGGCTGAATTCTCTCCCTTGGACACCCTGCTGGGCAGCTCACCAACTCTATGAAGCCCTGGAGCAACTAACTGTGGGTCTTAGCAACCATTCTAGCTCCTCCTTGATCCCAGTGCCTTCTCCATCTTTTCTTTCTTTCTTCTTTTTTTTTTTTTTTT... | benign | 72,161 |
Mutation found at chromosome 3 position 121770592, gene IQCB1 (IQ motif containing B1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCCAGACCAATGTCCTGGAGTACTTCCTGGAATCTTGCCTGAGCCTTAAAGGTAAGAGAGATTCACTGCCCTCGCTCTAGCAGCTTAAGACTTTTAAAAGGGGAAGTGGGGACTTTGCCTATGTCACCCAGTAGCAGCCTATCACTTCATGTTTGCCTGTACCCCAAAGGTCTTCTTCAGGCCTCTTGCCTTGCTCCCAACCTTTTTTTTTTTTTTGACAGGATCTCACTCTGTTGCCCTGGCTGCAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGACTCGAGCAATCTTCCTGCCTCAGCCTCC... | CCCAGACCAATGTCCTGGAGTACTTCCTGGAATCTTGCCTGAGCCTTAAAGGTAAGAGAGATTCACTGCCCTCGCTCTAGCAGCTTAAGACTTTTAAAAGGGGAAGTGGGGACTTTGCCTATGTCACCCAGTAGCAGCCTATCACTTCATGTTTGCCTGTACCCCAAAGGTCTTCTTCAGGCCTCTTGCCTTGCTCCCAACCTTTTTTTTTTTTTTGACAGGATCTCACTCTGTTGCCCTGGCTGCAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGACTCGAGCAATCTTCCTGCCTCAGCCTCC... | benign | 72,163 |
A genetic alteration at chromosome 3, position 121772587, in gene IQCB1 (IQ motif containing B1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_5'] | GTTCTTTCCCTTCTGCCTCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTG... | GTTCTTTCCCTTCTGCCTCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTG... | pathogenic | 72,164 |
For chromosome 3, position 121772600, gene IQCB1 (IQ motif containing B1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_5'] | TGCCTCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTGTAGAGATCTCACT... | TGCCTCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTGTAGAGATCTCACT... | pathogenic | 72,165 |
Gene mutation in IQCB1 (IQ motif containing B1) at chromosome 3, position 121772604—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['IQCB1-related_disorder', 'Nephronophthisis', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Senior-Loken_syndrome_5'] | TCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTGTAGAGATCTCACTATGC... | TCCTTCAGACTTGGTGCCTCTGTAGTGGACAGAAAATAAACAGATGAGCAGAAGAGTCCTATGCCAAGCAGGTAGGAACTTGGAAGCTACAGAGCTGTAACTCTGCAGGCAGAAACAGCATTCCAACTCTGAATGTACTACTTTTGAGAAAGGGTCTTGCTCTATTGCCTAAGCTGGAGTGCAGTAGCAAGATCACGGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATTCTCCCACCTCAGCTTCCTAAGTACCTGGGACTATGCCACCACACCCAGCTAATGTTTTTTCTTTTTTTGTAGAGATCTCACTATGC... | pathogenic | 72,166 |
Is the variant located on chromosome 3 at position 121781632, gene IQCB1 (IQ motif containing B1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ACATCTATGTAATTTCTGGGTTGGTTTGACTGAATATCCTCCTCATTATGGGTCCTGTTTTCCTACTTCCATGCATGCCTTTAATATTTGATTAGCTGCTAGACATTGTGACTTTTACCTTGTTGGGTGCTGGATATTTTGATATTTCTTAAAATTTTGAGTCTTTTTTTGGGATGCTGTTAAATTACATGAAAACATTTTAATCTTTTTTTGACTCTTGATTTTATAATTTGTTTGGCAGAATGGAGCCGTCTAGGCTAATCATAATCTACTATTAAGGGAAGGTCTTCCTGAGTACTCTTCACAATACCCTGTGAATT... | ACATCTATGTAATTTCTGGGTTGGTTTGACTGAATATCCTCCTCATTATGGGTCCTGTTTTCCTACTTCCATGCATGCCTTTAATATTTGATTAGCTGCTAGACATTGTGACTTTTACCTTGTTGGGTGCTGGATATTTTGATATTTCTTAAAATTTTGAGTCTTTTTTTGGGATGCTGTTAAATTACATGAAAACATTTTAATCTTTTTTTGACTCTTGATTTTATAATTTGTTTGGCAGAATGGAGCCGTCTAGGCTAATCATAATCTACTATTAAGGGAAGGTCTTCCTGAGTACTCTTCACAATACCCTGTGAATT... | benign | 72,171 |
Gene IQCB1 (IQ motif containing B1) variant at chromosome position 121781663 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GAATATCCTCCTCATTATGGGTCCTGTTTTCCTACTTCCATGCATGCCTTTAATATTTGATTAGCTGCTAGACATTGTGACTTTTACCTTGTTGGGTGCTGGATATTTTGATATTTCTTAAAATTTTGAGTCTTTTTTTGGGATGCTGTTAAATTACATGAAAACATTTTAATCTTTTTTTGACTCTTGATTTTATAATTTGTTTGGCAGAATGGAGCCGTCTAGGCTAATCATAATCTACTATTAAGGGAAGGTCTTCCTGAGTACTCTTCACAATACCCTGTGAATTATGAGTTTCTCCAGCATATTTGATGGGAACA... | GAATATCCTCCTCATTATGGGTCCTGTTTTCCTACTTCCATGCATGCCTTTAATATTTGATTAGCTGCTAGACATTGTGACTTTTACCTTGTTGGGTGCTGGATATTTTGATATTTCTTAAAATTTTGAGTCTTTTTTTGGGATGCTGTTAAATTACATGAAAACATTTTAATCTTTTTTTGACTCTTGATTTTATAATTTGTTTGGCAGAATGGAGCCGTCTAGGCTAATCATAATCTACTATTAAGGGAAGGTCTTCCTGAGTACTCTTCACAATACCCTGTGAATTATGAGTTTCTCCAGCATATTTGATGGGAACA... | benign | 72,172 |
Variant at chromosome 3, position 121795459, gene IQCB1 (IQ motif containing B1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Senior-Loken_syndrome_5'] | GGCAGTCTCTCTCCCAAAACCATGGGAAGGGGAAATTACTGAGATAAGTCCTGAGCACAAAAAGACAGAAATAACCTTTGAAAAAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAG... | GGCAGTCTCTCTCCCAAAACCATGGGAAGGGGAAATTACTGAGATAAGTCCTGAGCACAAAAAGACAGAAATAACCTTTGAAAAAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAG... | pathogenic | 72,190 |
Is the genetic variant on chromosome 3, position 121795523, gene IQCB1 (IQ motif containing B1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Nephronophthisis', 'Senior-Loken_syndrome_5'] | ACAGAAATAACCTTTGAAAAAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAGTATTTATAACTCTTCTGGTTACATAAAGAAAGCAATGGAATTTCTATTTTAAAATAATGGAATA... | ACAGAAATAACCTTTGAAAAAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAGTATTTATAACTCTTCTGGTTACATAAAGAAAGCAATGGAATTTCTATTTTAAAATAATGGAATA... | pathogenic | 72,191 |
Is the chromosome 3, position 121795542 variant in IQCB1 (IQ motif containing B1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_5'] | AAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAGTATTTATAACTCTTCTGGTTACATAAAGAAAGCAATGGAATTTCTATTTTAAAATAATGGAATATTAGATTCCATAGATACAC... | AAAAACCAAGCTACAAAGGAAGCAAGAGACATTTGCATGAACTGTTACAACTAATAGAAGAGCGAAGGTGCTGAACTGGAGAAAACTGAAAATTAAAAAATTAAATAGAATCCAACAGGTTAGAACCGCATTTCAGTATATTCTGGAACCTCAAATGCAAAAATACTGGAAAGGCAACAAACACAAAATGTGAGACTTAAATAATTTTTGCTTCACAGCTTATCTTTTTAATGGAAGTATTTATAACTCTTCTGGTTACATAAAGAAAGCAATGGAATTTCTATTTTAAAATAATGGAATATTAGATTCCATAGATACAC... | pathogenic | 72,192 |
Is the genetic variant on chromosome 3, position 121797181, gene IQCB1 (IQ motif containing B1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Leber_congenital_amaurosis'] | ATACACACGAAATTATGATAACTGTTGGTTTAGAGGGTTTAATAATATAACTATCATTGGCTCCCTTTGTAGGCTTGGCCCCTCCCCAAATATCTTATTAAGTGGATAGGATTGCATATTTGACACATCAGATTCCTGTCTTACATCCTTTGCTTTGAAAGTGCATCTGGTTACTGGAGTGTTGGTACCCAGAAACGTATGGAAAAAAAATGAAAAGATAACAAGAAACATACTAGGAAATTAAAAAAAAATCACCTAAATTTCAATTCAACTGTACTCTAGTAAGATTCTATGATCATCAATCCCCTCACCAAATTTTT... | ATACACACGAAATTATGATAACTGTTGGTTTAGAGGGTTTAATAATATAACTATCATTGGCTCCCTTTGTAGGCTTGGCCCCTCCCCAAATATCTTATTAAGTGGATAGGATTGCATATTTGACACATCAGATTCCTGTCTTACATCCTTTGCTTTGAAAGTGCATCTGGTTACTGGAGTGTTGGTACCCAGAAACGTATGGAAAAAAAATGAAAAGATAACAAGAAACATACTAGGAAATTAAAAAAAAATCACCTAAATTTCAATTCAACTGTACTCTAGTAAGATTCTATGATCATCAATCCCCTCACCAAATTTTT... | pathogenic | 72,196 |
Evaluate this variant at chromosome 3, position 121799204, gene IQCB1 (IQ motif containing B1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['IQCB1-related_disorder', 'Nephronophthisis', 'Senior-Loken_syndrome_5'] | GGCCAACAAGCTGTCTAAGTTCTTGACTGAATTCAGTCCCAGTTTCCTGTTTACTTAGTAGACGTCTGAGTCCTGAAATGGAATAGCAAAAGGTACAACTATTATTATAATAATAAAATATGATTTTGTTATCTAATCAGTATTAATTTGAAGCTAAAAAGTCTGGCTTAAAAACAAATGAAAACAAGATTAATCATATGATTTTTCTTTTTCCTTTTCTCAGAGAATTCCAGGTTGAAATCTTTAAGATATTCCTCCCTCCTGAGAATTCTTACGTGCTCAATTGTGGTATCTGATAAAAAAAAAAAAATCTGTCTAGA... | GGCCAACAAGCTGTCTAAGTTCTTGACTGAATTCAGTCCCAGTTTCCTGTTTACTTAGTAGACGTCTGAGTCCTGAAATGGAATAGCAAAAGGTACAACTATTATTATAATAATAAAATATGATTTTGTTATCTAATCAGTATTAATTTGAAGCTAAAAAGTCTGGCTTAAAAACAAATGAAAACAAGATTAATCATATGATTTTTCTTTTTCCTTTTCTCAGAGAATTCCAGGTTGAAATCTTTAAGATATTCCTCCCTCCTGAGAATTCTTACGTGCTCAATTGTGGTATCTGATAAAAAAAAAAAAATCTGTCTAGA... | pathogenic | 72,199 |
Considering the variant on chromosome 3, location 121799389, involving gene IQCB1 (IQ motif containing B1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AAGATTAATCATATGATTTTTCTTTTTCCTTTTCTCAGAGAATTCCAGGTTGAAATCTTTAAGATATTCCTCCCTCCTGAGAATTCTTACGTGCTCAATTGTGGTATCTGATAAAAAAAAAAAAATCTGTCTAGACAATCTCTTTAATAAAAAAAAAAAAAAAGGAGTGGGATGGAATCACTGTGGTAAATCAAAAAGTAGAGATAAATTTTTTTTATTTGAACAAAAATACTTAAATGGAGACATTTTAAAGATAAATTACTACAGACACATATTCAGTAAATGCTTGCCCTGTGGAAGCACTTATGCAGATTATTATT... | AAGATTAATCATATGATTTTTCTTTTTCCTTTTCTCAGAGAATTCCAGGTTGAAATCTTTAAGATATTCCTCCCTCCTGAGAATTCTTACGTGCTCAATTGTGGTATCTGATAAAAAAAAAAAAATCTGTCTAGACAATCTCTTTAATAAAAAAAAAAAAAAAGGAGTGGGATGGAATCACTGTGGTAAATCAAAAAGTAGAGATAAATTTTTTTTATTTGAACAAAAATACTTAAATGGAGACATTTTAAAGATAAATTACTACAGACACATATTCAGTAAATGCTTGCCCTGTGGAAGCACTTATGCAGATTATTATT... | benign | 72,202 |
Variant at chromosome 3, position 121808977, gene IQCB1 (IQ motif containing B1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leber_congenital_amaurosis', 'Nephronophthisis', 'Retinal_dystrophy', 'Senior-Loken_syndrome_5'] | TGAGCATCTGTAAAAATACCAAGCTTGAAGTTTATTAAATAAATGTGATTAAACATTTTTTGTTGTGATCTCAATATTTTTCTTCAGATTATCACACTAATTCTCTTCTTTAAGCCTGAGATTTGAGCTAAAAATCTTAAGCTCTGGTATAAGGTATCAATTTAATAATAAATTTCCAGTCTTTTGTAGTATTTTATATTAATTTTTCTGAAAGACAATGGTGATGGAACTTCAGCATTATATACAAGTATATAGTGCATATACTTGTATATACATTATATACGAGTATATAGTGCATATACTTGTATATACATTATATA... | TGAGCATCTGTAAAAATACCAAGCTTGAAGTTTATTAAATAAATGTGATTAAACATTTTTTGTTGTGATCTCAATATTTTTCTTCAGATTATCACACTAATTCTCTTCTTTAAGCCTGAGATTTGAGCTAAAAATCTTAAGCTCTGGTATAAGGTATCAATTTAATAATAAATTTCCAGTCTTTTGTAGTATTTTATATTAATTTTTCTGAAAGACAATGGTGATGGAACTTCAGCATTATATACAAGTATATAGTGCATATACTTGTATATACATTATATACGAGTATATAGTGCATATACTTGTATATACATTATATA... | pathogenic | 72,214 |
Considering the variant on chromosome 3, location 121994214, involving gene ILDR1 (immunoglobulin like domain containing receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_42', 'Congenital_sensorineural_hearing_impairment'] | TGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCTCTTCCCAGATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAACTTGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACACAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCAGCCCCAAATAATTTTTAAAGTCACTTCTTTAAAAAAATACAAAAGATCTGT... | TGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCTCTTCCCAGATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAACTTGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACACAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCAGCCCCAAATAATTTTTAAAGTCACTTCTTTAAAAAAATACAAAAGATCTGT... | pathogenic | 72,251 |
Chromosome 3, position 122254291, gene CASR (calcium sensing receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_dominant_hypocalcemia_1', 'Epilepsy,_idiopathic_generalized,_susceptibility_to,_8', 'Familial_hypocalciuric_hypercalcemia', 'Familial_hypocalciuric_hypercalcemia_1', 'Neonatal_severe_primary_hyperparathyroidism', 'Nephrolithiasis/nephrocalcinosis'] | GAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAA... | GAGCTGTGATGGCGCCACTGCATTCCAGGCTGGGCGACAGAGCCAGATTCTGTCAGAAAGAAAGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAA... | pathogenic | 72,286 |
Variant in gene CASR (calcium sensing receptor), located at chromosome 3 position 122254353: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_dominant_hypocalcemia_1', 'Familial_hypocalciuric_hypercalcemia'] | AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG... | AGAGAAAAAGGAAGAGAGAAAGAAAGAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAAGAAAAGAAAGAAAAGAAAAGAAGGGAGGGAGGGAAGGAAGGAAGGGAAAGAGAGAGAGAGAAAGAAAGAAGGCGGGGAGGGGAGGGGAGAGGGACAAAGAAAAAGAAAAAGAAATAAATGATGGTGGACTAAAAATAATCTTGGAAATGGCGAGGAGTAAATGGATTCCAG... | pathogenic | 72,294 |
Regarding the variant found on chromosome 3 at position 122261588 in gene CASR (calcium sensing receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_dominant_hypocalcemia_1', 'Familial_hypocalciuric_hypercalcemia'] | GTCAAGTTGGCCTAATTTTTTTACAGACCAACGCCTTTTATGTTTCTAATGTAGAAACTATCCATCAATAAGAAGAAACACATTGGAAATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTT... | GTCAAGTTGGCCTAATTTTTTTACAGACCAACGCCTTTTATGTTTCTAATGTAGAAACTATCCATCAATAAGAAGAAACACATTGGAAATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTT... | pathogenic | 72,363 |
Considering the genetic mutation at chromosome 3, position 122261697, impacting CASR (calcium sensing receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_hypocalcemia_1', 'Familial_hypocalciuric_hypercalcemia'] | AGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTC... | AGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTCGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGAAATTTTTACTTAAAAATATTGGACATGGAAAATTAATTGTTTTAAATGGTGAAAGATATTAAAAAGGCATTCTCCCAAATACCTTTGACTTGTTTTCTTAAGAAGTTTAAAATCTC... | pathogenic | 72,384 |
Regarding the variant at chromosome 3 and position 122283819, affecting gene CASR (calcium sensing receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_dominant_hypocalcemia_1', 'Familial_hypocalciuric_hypercalcemia'] | CTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCAC... | CTAGTGTTTTAGTATTTTTCATCTGTTTTCAAGTAGTAGAAAGTAGTGGCGCTTTTCCCAGATCATCATAGAATCCCAAGGGTGTGTGTCTGTGTATGTGTGCATGCACATGTGTGTGTGTGTGTGCATGTATACACACACACTTTCCCATAGTCATCTGTCCCTTTCACAGATATCAGAACCAAGGACCTCTGGACCTCCCTTTGCCTGGAATGGGCCCAACGTCTGTCACACTGATTCTTGTGCCCAAACTCCTCCCTCTTACATGTTTTGAAGAGACAGTAGGGCTGGCCCCTGACCCTACAACTACAGCCACTCAC... | pathogenic | 72,570 |
Variant at chromosome position 123347708, chromosome 3, gene ADCY5 (adenylate cyclase 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGGGAGACCCCTGGATTTTAAGAACTGCCATCAGACAGGAAAGGCCCCTGGTGGCTCCTCAGTCACAGAGACAGAGAGACAGACAGACAGACAGACAGACAGACAGACAGACACACACACACACACACACACACACAGGAAACCAAATCTCTCTCCTGCCTCTCCTCTGAGTCTCCTGTTAGCCTGAGGGCTCCCCAGACCTCCTTCCCAGATTCCTTGGACACACTCCTTTCTCCTGGGCACGTAAAAACATCTGTCTGGTAGTCAGGCTGGGTAAAAACTAGTACCAGAAAGCGTTCCAGGGTATTTCTCCCACTTAA... | GGGGAGACCCCTGGATTTTAAGAACTGCCATCAGACAGGAAAGGCCCCTGGTGGCTCCTCAGTCACAGAGACAGAGAGACAGACAGACAGACAGACAGACAGACAGACAGACACACACACACACACACACACACACAGGAAACCAAATCTCTCTCCTGCCTCTCCTCTGAGTCTCCTGTTAGCCTGAGGGCTCCCCAGACCTCCTTCCCAGATTCCTTGGACACACTCCTTTCTCCTGGGCACGTAAAAACATCTGTCTGGTAGTCAGGCTGGGTAAAAACTAGTACCAGAAAGCGTTCCAGGGTATTTCTCCCACTTAA... | benign | 72,862 |
The mutation in gene ADCY5 (adenylate cyclase 5) at chromosome 3, position 123448117—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia'] | ATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTCCCAGTCACAGAGCACCCTGCAGGTTCAGCTAGAGCCCAGAGCCCTGAAACCCATAACAGTGCTATTCTCTATGGAAGAATACTATGTCCAGGAAGCCAGGGGACACAGGAGAGCAACTCAAGAAAGATGCGGTACTCAAGAGGATAAAAGTCTAAGAGAAGGCACTAGAAGAGGGGAGACAGAGGAAGGCAATGACAATGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAA... | ATTCTCTAGAAAAGGTAGCAAAGGCCCAGAGAGCTTGTGTGTCCCCTCCGTCCCAGTCACAGAGCACCCTGCAGGTTCAGCTAGAGCCCAGAGCCCTGAAACCCATAACAGTGCTATTCTCTATGGAAGAATACTATGTCCAGGAAGCCAGGGGACACAGGAGAGCAACTCAAGAAAGATGCGGTACTCAAGAGGATAAAAGTCTAAGAGAAGGCACTAGAAGAGGGGAGACAGAGGAAGGCAATGACAATGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAA... | pathogenic | 72,883 |
Is the genetic mutation found on chromosome 3 at position 123448367, within the gene ADCY5 (adenylate cyclase 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurodevelopmental_disorder_with_hyperkinetic_movements_and_dyskinesia'] | TGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAAGGTGAAGAGACTTGCCTGTAGCAAGGGCCCAGTGGACTCTCACAGTGGAGCAGCATGCAAACAAGCAGGTTCAGAAGCAATCATGGATGAGGACCAGGAAACCAGACCACAGGACACTAAAGGGAGATATGGTATGGATGGCAGGGGGGCTCCTCTCACCCTGAGGTCAGGATAGCCAACATGCCCCTCTCACAGAAGCCTTTAAGAGAGTCACCAGCTAACCAGGCAAAAGTTGTATTTCTTCCTGAAC... | TGGAAAACCCTTAAGAGGTTCTATTCGAGAAGGCAGACACCAGTGGGCAGATGTGTGCACTGGGGTCCAAGGTGAAGAGACTTGCCTGTAGCAAGGGCCCAGTGGACTCTCACAGTGGAGCAGCATGCAAACAAGCAGGTTCAGAAGCAATCATGGATGAGGACCAGGAAACCAGACCACAGGACACTAAAGGGAGATATGGTATGGATGGCAGGGGGGCTCCTCTCACCCTGAGGTCAGGATAGCCAACATGCCCCTCTCACAGAAGCCTTTAAGAGAGTCACCAGCTAACCAGGCAAAAGTTGTATTTCTTCCTGAAC... | pathogenic | 72,885 |
Evaluate this variant at chromosome 3, position 123618781, gene MYLK: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GATCTGGTTGTTAAAACGTGGCACGTCCTTCTCTCTCGCTCTCTCACTTGCCATGTGACATGCCTGCTTCTGCTATGATTAAAAGCATCCTGAGGCCTCACTGGATGCAGATACTGGCACCAAGCCAAATAAGCTTCTTTTCTTTATAAATTTTCCAGCCTCAGGTATTCCTTTATAGCAATGCAAACAGGCTAATATGAGCCCTAACCAGAATAAAAATTATACATAAGAAATCAAGAATTCTAATGTTCTTTTCAATGTTGTTTTTTCAAAATAATTTTAGAAATTGTTTTTTCGAAGTAATTAGGAACACCCAGACC... | GATCTGGTTGTTAAAACGTGGCACGTCCTTCTCTCTCGCTCTCTCACTTGCCATGTGACATGCCTGCTTCTGCTATGATTAAAAGCATCCTGAGGCCTCACTGGATGCAGATACTGGCACCAAGCCAAATAAGCTTCTTTTCTTTATAAATTTTCCAGCCTCAGGTATTCCTTTATAGCAATGCAAACAGGCTAATATGAGCCCTAACCAGAATAAAAATTATACATAAGAAATCAAGAATTCTAATGTTCTTTTCAATGTTGTTTTTTCAAAATAATTTTAGAAATTGTTTTTTCGAAGTAATTAGGAACACCCAGACC... | benign | 72,913 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 123620185, gene MYLK: what disease(s) if pathogenic? | benign | GACTTAGCTATCATCTTACAGCAGAGGGACCGTAACTCAGGGGAGTTGGACCACCATCCAAGGTCACACAGCCTGTGGACGAGTAGCAGAGCCTGCCGATTCCACATCCTATGCCTTTGTGCCAGCCTTCCTTTGAGGGCCTCATATGGGCAAGTCACATGCTTTTCAGCAGTTTGCAAAGCTCATTTCACTAAGCATGTTCCAAAGCCAGGTAAGTCCATGCAAGGCCATTTCTAAACTTAGGTCTAGTGGCTGATGTAAGTAGGTGAAATTTCAAATGTGCCCCCTGGGGAAGTGACTGAAGGACACACCTTCAGGAG... | GACTTAGCTATCATCTTACAGCAGAGGGACCGTAACTCAGGGGAGTTGGACCACCATCCAAGGTCACACAGCCTGTGGACGAGTAGCAGAGCCTGCCGATTCCACATCCTATGCCTTTGTGCCAGCCTTCCTTTGAGGGCCTCATATGGGCAAGTCACATGCTTTTCAGCAGTTTGCAAAGCTCATTTCACTAAGCATGTTCCAAAGCCAGGTAAGTCCATGCAAGGCCATTTCTAAACTTAGGTCTAGTGGCTGATGTAAGTAGGTGAAATTTCAAATGTGCCCCCTGGGGAAGTGACTGAAGGACACACCTTCAGGAG... | benign | 72,914 |
The genetic variant at chromosome 3, position 123649196, affecting gene MYLK (myosin light chain kinase): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGC... | GCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGC... | benign | 72,972 |
A genetic variant on chromosome 3, position 123649196, affects the gene MYLK (myosin light chain kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGC... | GCTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGC... | benign | 72,973 |
Does the variant impacting MYLK (myosin light chain kinase) on chromosome 3, position 123649197, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGCC... | CTGGGGTAGGGCAGTAGGGGAGACACGTTTGGGGGCTCCCTGTGGTGCCCACGCTGCTGGCAGTGGGCCACTCACATCTCCAGGACCATGACGATGTTGGCCTTTTCTTCAAAGGCATCCACACACTGGACCAGCTTAGGGTGGTGGAGGCAGTTCATGATGCTAATCTCCTGCCGGATATTCTCTTTCTCTTTTGCTGAATATGCCTTGAAGAACTTCCCTGCCCAGACTTTTCGAGTTTTCTTTTCTACAAGTCGAAAGACCTGTCCAAATTTCCCACTGCAAATGAAAGGGGGAGGAGAGAAAAGCCACATTTAGCC... | benign | 72,974 |
Determine whether the variant at chromosome 3, position 123692721, in gene MYLK (myosin light chain kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CAGGGAAAGAAAAGCAGGGGGAAGAGGCCACCCTTATCCTTTCTGTCAACAAAACCAAACCCAATGGACTGAGAGTCAGTCCTGTTATCTCAGCTGGGCTCCCTCCTATCACTTTTCTAGCTCTTCTTCCAAGACCCAGCTCCCAATTTGCAGCTGGAGGCCTAACTCTGCATTTGAAGGAATTAGGGATAAATAATGATGGTCATCAAGATTAGTGGAGAGGACAAGGGAATCTGCCAGCAGACTCTGGGCAAACAAAGCCTTTTAAGTTGCAGAATGAATTCCCCAAACCTTAAAAAAAAAATCCCCAAGTGTATTCA... | CAGGGAAAGAAAAGCAGGGGGAAGAGGCCACCCTTATCCTTTCTGTCAACAAAACCAAACCCAATGGACTGAGAGTCAGTCCTGTTATCTCAGCTGGGCTCCCTCCTATCACTTTTCTAGCTCTTCTTCCAAGACCCAGCTCCCAATTTGCAGCTGGAGGCCTAACTCTGCATTTGAAGGAATTAGGGATAAATAATGATGGTCATCAAGATTAGTGGAGAGGACAAGGGAATCTGCCAGCAGACTCTGGGCAAACAAAGCCTTTTAAGTTGCAGAATGAATTCCCCAAACCTTAAAAAAAAAATCCCCAAGTGTATTCA... | benign | 73,013 |
Does the genetic variant at chromosome 3, position 123700269, impacting gene MYLK (myosin light chain kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GCCCATGGGCAGCGCCAAGCCTGATGAGAACCTGAAATCCACTAGCAAAGAAGAACTCAAGAAAGATATTAAGAATGATGCGAACTGCAAGAGAGGCCATGCAGGGACCACAGATAATGAAAAGAGATCAGAGAGCCAGGGGACAGCCCCAACCTTGTCCTGAGGATGGTGGATGCCACCCTGCATCCTGCCTGGAGAGATCACCGTAGGGTGACCTGGGAAATGTTCCCAGTCAGGGTTTCCAATCAGTTTTACCAAGGACTTTCCAAGTGGGAGAGCCCCACAGGGGCGGCAGGACAGGTTGTGGCGTCTGCTCCTCT... | GCCCATGGGCAGCGCCAAGCCTGATGAGAACCTGAAATCCACTAGCAAAGAAGAACTCAAGAAAGATATTAAGAATGATGCGAACTGCAAGAGAGGCCATGCAGGGACCACAGATAATGAAAAGAGATCAGAGAGCCAGGGGACAGCCCCAACCTTGTCCTGAGGATGGTGGATGCCACCCTGCATCCTGCCTGGAGAGATCACCGTAGGGTGACCTGGGAAATGTTCCCAGTCAGGGTTTCCAATCAGTTTTACCAAGGACTTTCCAAGTGGGAGAGCCCCACAGGGGCGGCAGGACAGGTTGTGGCGTCTGCTCCTCT... | benign | 73,026 |
Gene MYLK (myosin light chain kinase) variant at chromosome position 123733989 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTGTTGATGTTACTATATACCTTCTAATATAAGTTTTCTATAGGTTGTCTTTTTTTTTTTTTTTTTGCTTGCAATTTGTATGTGGAAAAAAAATGGGTGAAAGTTATTTGTTCCACAGTTTCCAGCAGCCTGCAATTTGCAGATTCTACTCTTGTGGTATTTGTTAATGCATTTCTCAAGGGTATGGCATGGGCCTGGGGCTTACATATGCATTTAGAGTAAGGGGGAAATTTTATAGAGATAGACAGGTACAAGAATATTTATCATAGGTATGTTATAATAGTGAAAAATGGAAACAATTTAATTATTCAACAAATAA... | ATTGTTGATGTTACTATATACCTTCTAATATAAGTTTTCTATAGGTTGTCTTTTTTTTTTTTTTTTTGCTTGCAATTTGTATGTGGAAAAAAAATGGGTGAAAGTTATTTGTTCCACAGTTTCCAGCAGCCTGCAATTTGCAGATTCTACTCTTGTGGTATTTGTTAATGCATTTCTCAAGGGTATGGCATGGGCCTGGGGCTTACATATGCATTTAGAGTAAGGGGGAAATTTTATAGAGATAGACAGGTACAAGAATATTTATCATAGGTATGTTATAATAGTGAAAAATGGAAACAATTTAATTATTCAACAAATAA... | benign | 73,141 |
Variant at chromosome 3, position 124744139, gene UMPS (uridine monophosphate synthetase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTACTTTTATTCTGTGTGATTAACTGTTTTCTTATAATATGTCCTATTACATTCCATTTAGGTTAGAATGGCTGAGGAGCACTCTGAATTTGTTGTTGGTTTTATTTCTGGCTCCCGAGTAAGCATGAAACCAGAATTTCTTCACTTGACTCCAGGAGTTCAGTTGGAAGCAGGAGGTAAATCTGGTCACTGGTCGTGGCTCTTCCAAAAATGCTTCTTTACCCATGGCAGGCAAAATAAAACTTTGCATATTATTATACACTTGCTTAAGAAAAGCCTTCTTAGTCTAGAACAATAATGAATGAGCCCTTTGGTAACTA... | TTACTTTTATTCTGTGTGATTAACTGTTTTCTTATAATATGTCCTATTACATTCCATTTAGGTTAGAATGGCTGAGGAGCACTCTGAATTTGTTGTTGGTTTTATTTCTGGCTCCCGAGTAAGCATGAAACCAGAATTTCTTCACTTGACTCCAGGAGTTCAGTTGGAAGCAGGAGGTAAATCTGGTCACTGGTCGTGGCTCTTCCAAAAATGCTTCTTTACCCATGGCAGGCAAAATAAAACTTTGCATATTATTATACACTTGCTTAAGAAAAGCCTTCTTAGTCTAGAACAATAATGAATGAGCCCTTTGGTAACTA... | benign | 73,228 |
Determine if the mutation at chromosome 3, position 125232327 in gene ZNF148 is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ATTTAGGGTGAGCACAGTTCCATTTTTAACGTATCACCTGAATGAAGCCTTTTTGTAATTATGTAATGCACAACACAACACACACAATCTTAAGAGTCAATAATGGCAGAACTTAAATATTTACTTCAAAGAAGTCTTAAATTCTTGAAAACTTTGGCAGCAAAGAAAGCTGTCAAACGGGAAAACTACTATTTCAAGCAAAACTTAATAACCAAAGTATACAGGAAACCACATTAAATATAATTTATATTCCTTATCATAAAAACACCAATATATTCAAAATAAATGAAGGATGTTAAGGGTGGATAGTTATTTCTTCC... | ATTTAGGGTGAGCACAGTTCCATTTTTAACGTATCACCTGAATGAAGCCTTTTTGTAATTATGTAATGCACAACACAACACACACAATCTTAAGAGTCAATAATGGCAGAACTTAAATATTTACTTCAAAGAAGTCTTAAATTCTTGAAAACTTTGGCAGCAAAGAAAGCTGTCAAACGGGAAAACTACTATTTCAAGCAAAACTTAATAACCAAAGTATACAGGAAACCACATTAAATATAATTTATATTCCTTATCATAAAAACACCAATATATTCAAAATAAATGAAGGATGTTAAGGGTGGATAGTTATTTCTTCC... | benign | 73,240 |
Does the variant impacting ZNF148 on chromosome 3, position 125233094, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Global_developmental_delay,_absent_or_hypoplastic_corpus_callosum,_and_dysmorphic_facies', 'Intellectual_disability'] | GAAATGCAACAAAAATTTTCCGATCACTCATCTAGCTGAAAAAGAAATGGTAGTTACTGGAATTAGTAAACACTTTTGGTTTGTAAAGTTGTAATGAGCAGTGTTCATTAAAAAGTAACTCAAGATAAAATATGCAATTAAAATGCCCATTTCTTTAGTTTCTCTGGATACTGTTTAATTATCCAATCTATCAAGAGTCTAGAAAGAAAAAGATTAAACCAGGTTTTACAGTTCCAAAGATATCCCAATTTCCTTTTATTGCCAAAAGTTAAAATTGTCAATTACGAGATGATTATGACACAACCATATCAAACCTAAAA... | GAAATGCAACAAAAATTTTCCGATCACTCATCTAGCTGAAAAAGAAATGGTAGTTACTGGAATTAGTAAACACTTTTGGTTTGTAAAGTTGTAATGAGCAGTGTTCATTAAAAAGTAACTCAAGATAAAATATGCAATTAAAATGCCCATTTCTTTAGTTTCTCTGGATACTGTTTAATTATCCAATCTATCAAGAGTCTAGAAAGAAAAAGATTAAACCAGGTTTTACAGTTCCAAAGATATCCCAATTTCCTTTTATTGCCAAAAGTTAAAATTGTCAATTACGAGATGATTATGACACAACCATATCAAACCTAAAA... | pathogenic | 73,243 |
The chromosome 3, position 128481887 genetic variant in gene GATA2 (GATA binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | TGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCA... | TGAGACCCCAGCAGGGACACAGCCTCTCCCTGGGTCCTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCA... | pathogenic | 73,464 |
Gene GATA2 (GATA binding protein 2) variant at chromosome 3, position 128481923—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML', 'Monocytopenia_with_susceptibility_to_infections'] | CTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGA... | CTGGTCCTGACCTGCCCCCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGA... | pathogenic | 73,471 |
Evaluate the clinical significance of the mutation at chromosome 3, position 128481940 in gene GATA2 (GATA binding protein 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | CCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGG... | CCAACTCCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGG... | pathogenic | 73,476 |
Variant on chromosome 3, at position 128481946, affecting GATA2 (GATA binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGC... | CCTGCCTTCACCCCCTGCCAGGCCAGCAAATGCCAACCAGCCCCCAGAAACCAAGGGCAGCAAAGGCCCCTCCCCACCCCCAGCTTTCATACTAGGGCTGTGGGATCCCAGCTCTTTTCCAAAAAGAATTGCAAAGCTCCAACCTTGTGTGTAGGTTTTATTCCTTTCATAGCAGGGCTCCTGTGGCTACGTACAATCAACTGGACCCAAAAAGAGTTTAAAAATAAAACAATTAACTCATCAGCGAGTTAAGCCTATGCATTTTTTTAATATTTTTTCTTTTGTCTCAGAGTAGGAGGCGAGGGGGTTGAAGGGTTAGC... | benign | 73,480 |
Is the genetic mutation found on chromosome 3 at position 128483905, within the gene GATA2 (GATA binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'Monocytopenia_with_susceptibility_to_infections'] | CAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACG... | CAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACG... | pathogenic | 73,492 |
Mutation at chromosome 3, position 128483960, within GATA2 (GATA binding protein 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | TGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTC... | TGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTC... | pathogenic | 73,499 |
Gene GATA2 (GATA binding protein 2) variant at chromosome position 128485779 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML', 'Monocytopenia_with_susceptibility_to_infections'] | AGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAA... | AGTGCTTTTCATGATAAAAGAGGATTTCAAGCGGCAAAGCGTCTGCATTTGAAGGAGTTTTTTTCCCCTGTAATTAACCGCCAGCTCCTGCCCAGCAGCCCCCTCCCAGCCACCTGTGCCCGCTCCTACCAGTCTTCGCTTGGGCTTGATGAGTGGTCGGTTCTGCCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAA... | pathogenic | 73,509 |
Does the chromosome 3 mutation at position 128485944 within gene GATA2 (GATA binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'Monocytopenia_with_susceptibility_to_infections'] | CCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAA... | CCCATTCATCTTGTGGTAGAGGCCACAGGCATTGCACAGGTAGTGGCCGGTGCCGTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAA... | pathogenic | 73,524 |
Clinical significance of chromosome 3, position 128485998, gene GATA2 (GATA binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML', 'Monocytopenia_with_susceptibility_to_infections'] | GTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGG... | GTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGG... | pathogenic | 73,529 |
Regarding the variant found on chromosome 3 at position 128485998 in gene GATA2 (GATA binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML', 'Monocytopenia_with_susceptibility_to_infections'] | GTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGG... | GTCCCGCCGCCAGAGAGGGGTGGCTGTGGCCCCACAGTTGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGG... | pathogenic | 73,530 |
Does the genetic variant at chromosome 3, position 128486036, impacting gene GATA2 (GATA binding protein 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | TGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGA... | TGACACACTCCCGGCCTTCTGCAGGGGAACAGGGAGAGACACGGGGGCCTGCTTAACCGGCAAGTTCTCGGGAGGGAGTCCAGGGCAGGAAAGCAGCCAGCCGAGCAGTGCCGGTGCCTCTCAGGCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGA... | pathogenic | 73,533 |
Is the chromosome 3, position 128486160 variant in GATA2 (GATA binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | GCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGT... | GCACACGGTTGGCCTGGGCCTGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGT... | pathogenic | 73,547 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 128486180, gene GATA2 (GATA binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | TGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAAC... | TGGCTGCAACAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAAC... | pathogenic | 73,550 |
Determine if the mutation at chromosome 3, position 128486189 in gene GATA2 (GATA binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Myelodysplastic_syndrome'] | CAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGC... | CAGCCTGGGCAGGAAGAGGGACGAGAGGGTCTCCCACATGGGAGGGGGCACAGGTCCAGAGTCGTTTAAAGCCAAATCCCCTGCTTCCAATCCTCACCAGGAGGGATGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGC... | pathogenic | 73,552 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 128486295, gene GATA2 (GATA binding protein 2): what disease(s) if pathogenic? | pathogenic; ['Deafness-lymphedema-leukemia_syndrome', 'GATA2_deficiency_with_susceptibility_to_MDS/AML'] | TGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAAT... | TGGAAACGAAGGAGGAGGGGAGGAGGGGCCCAGGGCCCCAGGCGTTCTGGAGCAACCAGGAGGGTATTTACTGCAAACTTTGCCGAGGGTAGGGTGGTGGCAGGAGTCACCCAGCTCAACCTGGCTGGGCCCAGGAGGCTCTCTCCTTCCCGCTCTGGCGCGTCTCTCCCCCTCTCCTCTTTTGTCCCTCTCCTTTCTACCCAACTGTGTCTGCCCCACCCCGTCTTTCTGCTCTAAGTCCAGAAGCATTTCCCTCTTTCTCCCCAACTTTTCTCCTCTTCCACCAAAGCTCTAGAATTTTTCTGAGTCCTGGAAATAAT... | pathogenic | 73,560 |
Clinical classification of chromosome 3, position 128879626, gene ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? Disease(s) if pathogenic? | benign | TACCTTCTTGTGAAGCTGAATGCTAAGCAAGTAAATATCAACCACTGATGAAGAAACCAGGTGAGAGACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCA... | TACCTTCTTGTGAAGCTGAATGCTAAGCAAGTAAATATCAACCACTGATGAAGAAACCAGGTGAGAGACCTTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCA... | benign | 73,632 |
Does the genetic variant at chromosome 3, position 128879696, impacting gene ACAD9 (acyl-CoA dehydrogenase family member 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGT... | TTAGACAAGGTAAAATAATCTGAAAAGATGCCTGCAAATATTTTGCAGTTTAGACTCTACGCCTTGCAGAGTTTTGAGCTCTTTTTTCTTGATGTTGTGTTAGCAATGTAATCTTTTTTGGTGCTGAGCTTAGCTTGCTGAGATGAAAGGGATTTCTTTTTCTTCTCAAGGAGTTGACACAATGGAAGCTGGAGGCATTTCCCAACACTGTGGTCAATGCTACAGTCGGGGAACAAGCAAGTCTCCCCCAAAACAGGGATCGGAGTTTTTAAGGATAATTTGGCGAGTAGGAGCTCGGGAAGTGGGGAGTGCTGACTGGT... | pathogenic | 73,634 |
Variant at chromosome 3, position 128884650, gene ACAD9 (acyl-CoA dehydrogenase family member 9): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency', 'Mitochondrial_complex_I_deficiency'] | TATTCATGGAGTGTCCTGGAACTGCTGCAGGGATGGGTGGGAAGTTGAGTGGGTGGGATTTGGGTGCCTGTTTTCCCTATCAGCAGTCTCAGTCAGAGCCGCCTGCTTCTGTCTGTTTTACATATTTGGTTTCTGCACTAGATTTCTTTGAATAACAGGTTCCACTTTTTTAGATAATTTACAAACTGTTTATTGCAATTGAACTCTCCTCCCCTAAGGCATTGACCTGATTTGATAACATCAGGATCTTTCTCCCACGCCCCTGCAATCTCTCCTGTGTGGCAGGTTTTCTGTGGTTGTACCTGAAGGCCAATTAGTTG... | TATTCATGGAGTGTCCTGGAACTGCTGCAGGGATGGGTGGGAAGTTGAGTGGGTGGGATTTGGGTGCCTGTTTTCCCTATCAGCAGTCTCAGTCAGAGCCGCCTGCTTCTGTCTGTTTTACATATTTGGTTTCTGCACTAGATTTCTTTGAATAACAGGTTCCACTTTTTTAGATAATTTACAAACTGTTTATTGCAATTGAACTCTCCTCCCCTAAGGCATTGACCTGATTTGATAACATCAGGATCTTTCTCCCACGCCCCTGCAATCTCTCCTGTGTGGCAGGTTTTCTGTGGTTGTACCTGAAGGCCAATTAGTTG... | pathogenic | 73,640 |
Mutation at chromosome 3, position 128884685, within ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | GGTGGGAAGTTGAGTGGGTGGGATTTGGGTGCCTGTTTTCCCTATCAGCAGTCTCAGTCAGAGCCGCCTGCTTCTGTCTGTTTTACATATTTGGTTTCTGCACTAGATTTCTTTGAATAACAGGTTCCACTTTTTTAGATAATTTACAAACTGTTTATTGCAATTGAACTCTCCTCCCCTAAGGCATTGACCTGATTTGATAACATCAGGATCTTTCTCCCACGCCCCTGCAATCTCTCCTGTGTGGCAGGTTTTCTGTGGTTGTACCTGAAGGCCAATTAGTTGCCAGGCAGTCTTATCTGGCCTGCCCACTGGTACCA... | GGTGGGAAGTTGAGTGGGTGGGATTTGGGTGCCTGTTTTCCCTATCAGCAGTCTCAGTCAGAGCCGCCTGCTTCTGTCTGTTTTACATATTTGGTTTCTGCACTAGATTTCTTTGAATAACAGGTTCCACTTTTTTAGATAATTTACAAACTGTTTATTGCAATTGAACTCTCCTCCCCTAAGGCATTGACCTGATTTGATAACATCAGGATCTTTCTCCCACGCCCCTGCAATCTCTCCTGTGTGGCAGGTTTTCTGTGGTTGTACCTGAAGGCCAATTAGTTGCCAGGCAGTCTTATCTGGCCTGCCCACTGGTACCA... | pathogenic | 73,641 |
Determine whether the variant at chromosome 3, position 128895320, in gene ACAD9 (acyl-CoA dehydrogenase family member 9) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency', 'Mitochondrial_complex_I_deficiency'] | CCTGGGAGATTAAGGTTACGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGATATCAGAGTGAGACCTTGTCTCTAAATAAATATATAAAAATAAAATTTTTCCTGGGCTCATTACATAAAATTGAACACAGGCCAAATGACCATGACTACAGAATTTCTAGTTTTGAAAAAGTTTCTACTCTGGGATTATATATGATTAATATATAAACACTGTCCTGTTTACTTATATTTGTAGAAACATAGCTTATATTTGTTTAATCAAGATTTTCCTCTTGGCAGTGGACTCCCGAAAAATTGACCAGGAAGGGAAAATCCC... | CCTGGGAGATTAAGGTTACGTGAGCTATGATTGTGCCACTGCACTCCAGCCTGGATATCAGAGTGAGACCTTGTCTCTAAATAAATATATAAAAATAAAATTTTTCCTGGGCTCATTACATAAAATTGAACACAGGCCAAATGACCATGACTACAGAATTTCTAGTTTTGAAAAAGTTTCTACTCTGGGATTATATATGATTAATATATAAACACTGTCCTGTTTACTTATATTTGTAGAAACATAGCTTATATTTGTTTAATCAAGATTTTCCTCTTGGCAGTGGACTCCCGAAAAATTGACCAGGAAGGGAAAATCCC... | pathogenic | 73,653 |
Is chromosome 3, position 128896476, gene ACAD9 (acyl-CoA dehydrogenase family member 9) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | ATCTTCATATTTAAAGTATATATCTACATATGCTTGTATGCCTAGAAAAAGTGTGGATGGAAGGATATACACAGAAATGCGCTTTCTGAGGCACAAGATTGCGAGCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGGTCATAGCTCACTGTAGCCCTGAATTCCTCGGGCTCAAACAATCCTCCCACCTAAGCCTTCCAAGTAGCTGGGACTACAGGCGTGCGCCGCCATGCCTGGTGAATTTTTTTTATTTTGTAGAGCTGGGGTCCTGCTATGTTGCCCAGGC... | ATCTTCATATTTAAAGTATATATCTACATATGCTTGTATGCCTAGAAAAAGTGTGGATGGAAGGATATACACAGAAATGCGCTTTCTGAGGCACAAGATTGCGAGCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGTGGTCATAGCTCACTGTAGCCCTGAATTCCTCGGGCTCAAACAATCCTCCCACCTAAGCCTTCCAAGTAGCTGGGACTACAGGCGTGCGCCGCCATGCCTGGTGAATTTTTTTTATTTTGTAGAGCTGGGGTCCTGCTATGTTGCCCAGGC... | pathogenic | 73,661 |
A genetic variant on chromosome 3, position 128899393, affects the gene ACAD9 (acyl-CoA dehydrogenase family member 9). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Mitochondrial_complex_I_deficiency'] | CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGATCTCAATCTCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGC... | CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGATCTCAATCTCTTGACCTCGTGAACCACCTGCCTCAGCCTCATGTTCTATTAATAGCAGCAGAGTTGAGGAGGTGAGACAGACATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGC... | pathogenic | 73,670 |
Regarding the variant at chromosome 3 and position 128899523, affecting gene ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCTTCCCCATGGCCACATTAGGGTCTCAGTCACAACCTTCACTGCCACTGAGTGAGCACTCTCCACACACCAGGGA... | CATCCTGCAGCTTGGAAAGCTGAATATGTTATCTGACCCTTCATTTTAAAAGTTTGCTGACCTCTTACAAGTACTAAAACCTCCATTTTCAGGCCCTCAAAAGCATTCATATTTATTCCCAGTATTCTCCCTTGACCACATCTTTCTGCATCTGCAGTGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAAGACAAGAAGCACTACATCCTCAATGGCTCCAAGGTAGGGTTCCTTCCCCATGGCCACATTAGGGTCTCAGTCACAACCTTCACTGCCACTGAGTGAGCACTCTCCACACACCAGGGA... | benign | 73,678 |
The chromosome 3, position 128901288 genetic variant in gene ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TCACATAGGGGTTTGGTTTTCTCCAAAGTCCATCTTTCTGTCCTCAGGTCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAAAGACTGAGGTCGTTGATTCTGATGGATCAGTGAAAGACAAAATCACAGCATTCATAGTAGAAAGAGACTTTGGTGGAGTCACTAATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGCTCCTGTGCGCGCGTGCGCGTGTGTGTGTGTAAGGGGGAGACTGGCCTTTGACGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT... | TCACATAGGGGTTTGGTTTTCTCCAAAGTCCATCTTTCTGTCCTCAGGTCTGGATTACTAATGGAGGACTGGCCAATATTTTTACTGTGTTTGCAAAGACTGAGGTCGTTGATTCTGATGGATCAGTGAAAGACAAAATCACAGCATTCATAGTAGAAAGAGACTTTGGTGGAGTCACTAATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGCTCCTGTGCGCGCGTGCGCGTGTGTGTGTGTAAGGGGGAGACTGGCCTTTGACGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT... | pathogenic | 73,680 |
Is chromosome 3, position 128902625, gene ACAD9 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | GGTCTCGAACTCCTGGGTTCAAGTGATCTTCCTGCCTCTGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCATACCCGACTGACCCTAAAACACATTTAAGGTCTCTGTTCATGTTGGGTCAGCTCTTTGTATTGGCCACAGGAAGTCACATGGTCATACCTAGCAGGCAGGGAAAGGGAGGGAGGTCCATCCCTCCTCACAGTGGGAGAGTGCTACAGTTAGATTGCAGGGGTGTGATTGTGTTAGAGTTAAGAATTGAGACCAGTGGTCCCAGTCTACCCTAAGGCTTCAGGAAATGCTGTTCTTTCCCTCAC... | GGTCTCGAACTCCTGGGTTCAAGTGATCTTCCTGCCTCTGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCATACCCGACTGACCCTAAAACACATTTAAGGTCTCTGTTCATGTTGGGTCAGCTCTTTGTATTGGCCACAGGAAGTCACATGGTCATACCTAGCAGGCAGGGAAAGGGAGGGAGGTCCATCCCTCCTCACAGTGGGAGAGTGCTACAGTTAGATTGCAGGGGTGTGATTGTGTTAGAGTTAAGAATTGAGACCAGTGGTCCCAGTCTACCCTAAGGCTTCAGGAAATGCTGTTCTTTCCCTCAC... | pathogenic | 73,685 |
Is the variant located on chromosome 3 at position 128904072, gene ACAD9 (acyl-CoA dehydrogenase family member 9), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | AGCATGAATGAGTAATTCATTCCTTTTATGGCTGAATTCTCTTCTGTTGAGTGGAGATACCACATTTTGTTCATCCATTCACCAGCTGATGGACATTGGGGTTGTTACCGCTTTTGGCTGCTATCAGTAATGCTACTTATGAACATTCATGTCAAGTTTTAATGTGGAAATAACGTTTTCAGGTATTTTGATTTATGCCTAAAAGTAGAATTTCTGTTTGGCCCAAGTTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCTTGCCTTGGCCTTCCAAAATGCTGGTACTACAGGTGGGAGCCACCATGCCCAGCTCTGGC... | AGCATGAATGAGTAATTCATTCCTTTTATGGCTGAATTCTCTTCTGTTGAGTGGAGATACCACATTTTGTTCATCCATTCACCAGCTGATGGACATTGGGGTTGTTACCGCTTTTGGCTGCTATCAGTAATGCTACTTATGAACATTCATGTCAAGTTTTAATGTGGAAATAACGTTTTCAGGTATTTTGATTTATGCCTAAAAGTAGAATTTCTGTTTGGCCCAAGTTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCTTGCCTTGGCCTTCCAAAATGCTGGTACTACAGGTGGGAGCCACCATGCCCAGCTCTGGC... | pathogenic | 73,688 |
Evaluate this variant at chromosome 3, position 128904131, gene ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mitochondrial_complex_I_deficiency'] | CCACATTTTGTTCATCCATTCACCAGCTGATGGACATTGGGGTTGTTACCGCTTTTGGCTGCTATCAGTAATGCTACTTATGAACATTCATGTCAAGTTTTAATGTGGAAATAACGTTTTCAGGTATTTTGATTTATGCCTAAAAGTAGAATTTCTGTTTGGCCCAAGTTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCTTGCCTTGGCCTTCCAAAATGCTGGTACTACAGGTGGGAGCCACCATGCCCAGCTCTGGCATGGTCCTTTGGAATAACGTTCAGTGGTCTTGTGTGTGGGGATGTTGGTAGAGCTGCAA... | CCACATTTTGTTCATCCATTCACCAGCTGATGGACATTGGGGTTGTTACCGCTTTTGGCTGCTATCAGTAATGCTACTTATGAACATTCATGTCAAGTTTTAATGTGGAAATAACGTTTTCAGGTATTTTGATTTATGCCTAAAAGTAGAATTTCTGTTTGGCCCAAGTTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCTTGCCTTGGCCTTCCAAAATGCTGGTACTACAGGTGGGAGCCACCATGCCCAGCTCTGGCATGGTCCTTTGGAATAACGTTCAGTGGTCTTGTGTGTGGGGATGTTGGTAGAGCTGCAA... | pathogenic | 73,693 |
Classify the chromosome 3 variant at position 128904414 affecting gene ACAD9 (acyl-CoA dehydrogenase family member 9) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | AGTGGTCTTGTGTGTGGGGATGTTGGTAGAGCTGCAACAGTGACTGAACCACCTTGTTCTGAGGCATTAGGATGGTGCTTTCTCCCAGCTTGAGGGAAGGCAAGCTGATCCACCTGGCCTGGTTTCGTTGCGGCCTCCTCCCTCTGCCTCCTTCAGGGCCCCTGGGCTCTCCCTGTTCTCCCTGCAGGTGGCCATGAACATCCTCAACAGCGGCCGGTTCAGCATGGGCAGCGTCGTGGCTGGGCTGCTCAAGAGATTGATTGGTAGGTAAGTTAGGGACAAGGCCCTTTGTGCCCCACCCCCTGCTGCCCCGGCTCCAA... | AGTGGTCTTGTGTGTGGGGATGTTGGTAGAGCTGCAACAGTGACTGAACCACCTTGTTCTGAGGCATTAGGATGGTGCTTTCTCCCAGCTTGAGGGAAGGCAAGCTGATCCACCTGGCCTGGTTTCGTTGCGGCCTCCTCCCTCTGCCTCCTTCAGGGCCCCTGGGCTCTCCCTGTTCTCCCTGCAGGTGGCCATGAACATCCTCAACAGCGGCCGGTTCAGCATGGGCAGCGTCGTGGCTGGGCTGCTCAAGAGATTGATTGGTAGGTAAGTTAGGGACAAGGCCCTTTGTGCCCCACCCCCTGCTGCCCCGGCTCCAA... | pathogenic | 73,695 |
Is the genetic mutation found on chromosome 3 at position 128908193, within the gene ACAD9 (acyl-CoA dehydrogenase family member 9), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | CAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCA... | CAGTGTGTGAGTGAGGCGCTGCAGATCCTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCA... | pathogenic | 73,716 |
Is chromosome 3, position 128908247, gene ACAD9 (acyl-CoA dehydrogenase family member 9) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGC... | TATCCGTACGAGCGCATACTGCGTGACACCCGCATCCTCCTCATCTTCGAGGTGAGTGGCCCCGCCACCAGCTAAGCTGTGCTCCACCCCCACCCTGCCTGGTCCTAAAGATGCTGCTCAGGGCCTCGCAGAGGCCCCCGCAGCCCAGGGCTGGGTCGCATGCTCTCAGGGGCTCTCCTAGCCCTGGCACGTCTCCTTCCCGACTGCTGCCCTCCATGAAGTCACAAGCCTGAGGAGTCAGTTCAGTTAGCATGTGCCAGGTGGCAGGGGAGGGAACTGGGGCCACAGAGATGACTTCGGATGCTGTGTTCTGATTGTGC... | pathogenic | 73,719 |
Considering the genetic mutation at chromosome 3, position 128908996, impacting ACAD9 (acyl-CoA dehydrogenase family member 9): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | CCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGG... | CCCCCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGG... | pathogenic | 73,728 |
Variant chromosome 3, position 128908999, gene ACAD9 (acyl-CoA dehydrogenase family member 9): benign or pathogenic? Disease(s)? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | CCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTT... | CCAGGGGCTCAGCAAGTGCTGGACATGTGGACGGGGCTCATGTGGAGAGTGAGTTGCAGGGATGAGGCCGGAGACCAGGGGCTCTCCTGCTGGGAGGGAGGGGCTGGACCTAAGAGAGCACAGCAGGATGAGTGGGATATGATGGTGGGCATGGGTATACAGGAGGCAGGCCTGAGACAGGGAGAGGGTTTGGGCCTGAGCAGCAGGTCTGGTGATGAGAGGCATCATCAGCCTCTGGGAGTGTAGTCTTGTCTCCTGGGCCGTCCTGCCCAGTGGGAGGCCTCCTTGGCTGCTTTTGTTCCTGGCCTACCCATTGGGTT... | pathogenic | 73,729 |
Variant in ACAD9, chromosome 3, position 128910051—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAG... | TCCCTCCTCATCCCTGTGCACTCCCTGAGCCCTGGCCAGAGCCCTGCTCCCAGCTACTTCAGGAGCAGTGGCTTTTGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAG... | pathogenic | 73,744 |
Determine if the mutation at chromosome 3, position 128910126 in gene ACAD9 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency', 'Mitochondrial_complex_I_deficiency'] | TGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGG... | TGTGGCAATGGGCAAGCAGGCAGTGGCCGGCTCTACCCAGCACACGTGGCACTACCATGGCTGCCTGGCCGGGGGGCAGCCTTTGACCTCTACACTACTGACCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCAGTAGGTGCCATTGTCACCGTGTGCTTCTCAGGTCCCATACCTGCCCAGCAGGGGCCAGTCCAGGGCAGTGGGAGGAAAGAGCTGCCTTGACCTGGAGTGGGGGCATGGGGGTGTGGCGCAGCCTTGTGGAGGG... | pathogenic | 73,748 |
Is the genetic variant on chromosome 3, position 128910794, gene ACAD9, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGAC... | TGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGAC... | pathogenic | 73,759 |
Assess the variant on chromosome 3, position 128910794, impacting ACAD9: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | TGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGAC... | TGGCTGTGACTCCACCCCTCATGGGGGAGCATATGTGTGGCTCCCCTGAGGAGACTGGCTGCTCTCTGGCAGGTGGTGGGTTTGGGGGGGTTCAGGCTGTAGCCAGGGGCCCAGCATACCCAGGCCAGAGGGGGGCACGGAGCTTCTGGGTGCCGAATGGGCCATGTTGCTGGACAGTGAGCGCCAGCAGCGAGGCCTCCAGTCACAGGACCATGGACTTTCTGCAGTGAGCTTAAACAGGCCAAAGTGAGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGACCTGGGGCTGAC... | pathogenic | 73,760 |
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