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 |
|---|---|---|---|---|---|
The mutation impacting VSX2 (visual system homeobox 2) on chromosome 14 at position 74239626: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Anophthalmia-microphthalmia_syndrome', 'Isolated_microphthalmia_2'] | GCATCTGGCTCATCGTGGATGTCTCATGATAAGTCAGGGACATGACAGATGCCATTAACATAACATCCTCATCCATCCTCCCAGGGTGGGCTGGCATGGAGAGTGGGCTGAGAGAGGGATGGAGTCAAAAGAAAACAGCTTCTGACATCAGACTCATGCGCTGACTCATCTGACCTCTGATGCTTACTAGCTAGGTAACCTCTTAGGCAACATAAGTTTGTGTATCCATTAAATGGGGACAGAAATTCTTTTCTGGCAGGTGAGTCTACTGCTTTGCACAACTCCAGAGGGCACCATTCACATTGTTGTCTACGTGAGTG... | GCATCTGGCTCATCGTGGATGTCTCATGATAAGTCAGGGACATGACAGATGCCATTAACATAACATCCTCATCCATCCTCCCAGGGTGGGCTGGCATGGAGAGTGGGCTGAGAGAGGGATGGAGTCAAAAGAAAACAGCTTCTGACATCAGACTCATGCGCTGACTCATCTGACCTCTGATGCTTACTAGCTAGGTAACCTCTTAGGCAACATAAGTTTGTGTATCCATTAAATGGGGACAGAAATTCTTTTCTGGCAGGTGAGTCTACTGCTTTGCACAACTCCAGAGGGCACCATTCACATTGTTGTCTACGTGAGTG... | pathogenic | 223,234 |
Variant chromosome 14, position 74239827, gene VSX2 (visual system homeobox 2): benign or pathogenic? Disease(s)? | pathogenic; ['Isolated_microphthalmia_2', 'Microphthalmia,_isolated,_with_coloboma_3'] | CTTAGGCAACATAAGTTTGTGTATCCATTAAATGGGGACAGAAATTCTTTTCTGGCAGGTGAGTCTACTGCTTTGCACAACTCCAGAGGGCACCATTCACATTGTTGTCTACGTGAGTGGTGTTACTTGGGACCCACCTCCATAGAATATAAGGTGAAGAATGCCTTGAGATTGTGTCACCAGAGATGACACCATGTAAGGGGCCTGGGATGATGTAGGCACACAGTAGGCACGGCCTTATTATGGGATACAGAGGCACCACTCTCCCAGATATCTCCTGCACCATGAGATGCCCCTACCTAATTCCAGCTGTTATGTGG... | CTTAGGCAACATAAGTTTGTGTATCCATTAAATGGGGACAGAAATTCTTTTCTGGCAGGTGAGTCTACTGCTTTGCACAACTCCAGAGGGCACCATTCACATTGTTGTCTACGTGAGTGGTGTTACTTGGGACCCACCTCCATAGAATATAAGGTGAAGAATGCCTTGAGATTGTGTCACCAGAGATGACACCATGTAAGGGGCCTGGGATGATGTAGGCACACAGTAGGCACGGCCTTATTATGGGATACAGAGGCACCACTCTCCCAGATATCTCCTGCACCATGAGATGCCCCTACCTAATTCCAGCTGTTATGTGG... | pathogenic | 223,236 |
Is the genetic change at chromosome 14, position 74260844, within gene VSX2 (visual system homeobox 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAATCAGCTTTGGGGCCAGAGACACATTCGCTAGTGCTTCCTCCGCCCCCACTCCCTCCCAGGTCCCTCCTCCCATTTGCTCCTCAACCCTGGAGAATGTTATCTTCATCCCTGGTCCAGCTCCCCAAATACTATTCAGAGTTAGGCTCGGAGCTGTGGGGAGCAGGTACCTGGAGGGCACATGTGGTTTGGCAGAGCTTAGCTGGGACAGGGTGGAGGAGGCAGGCTGACCCAGGCCTCCGAGGGGAGTCTCCCTCCCTGAGTTCCCAGCCTTCCTGATACCTGGGTGAAGTGCCCCTAAGACTGTCCCCTGCCCTTTG... | CAATCAGCTTTGGGGCCAGAGACACATTCGCTAGTGCTTCCTCCGCCCCCACTCCCTCCCAGGTCCCTCCTCCCATTTGCTCCTCAACCCTGGAGAATGTTATCTTCATCCCTGGTCCAGCTCCCCAAATACTATTCAGAGTTAGGCTCGGAGCTGTGGGGAGCAGGTACCTGGAGGGCACATGTGGTTTGGCAGAGCTTAGCTGGGACAGGGTGGAGGAGGCAGGCTGACCCAGGCCTCCGAGGGGAGTCTCCCTCCCTGAGTTCCCAGCCTTCCTGATACCTGGGTGAAGTGCCCCTAAGACTGTCCCCTGCCCTTTG... | benign | 223,258 |
Gene ABCD4 (ATP binding cassette subfamily D member 4) variant at chromosome position 74290492 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Methylmalonic_acidemia_with_homocystinuria,_type_cblJ'] | TGACACTGTTTAGACTTGCTGGAGCATGATGACAGTAAAAAGCAAACCGCCTTCATCAATCCTATTCTTGTTTTAAAATTCTCCAATGAGAGCACTACCCCCTTCGTGCCTAAACCTGGCCAACAGCACACACTGTCAACTGATACTCCCATTCTCCACCCCAGGTTCAGACTTCCAGTCCTGGGCCCAAGCATAGCAGGGCCAGCACCTGCCTACCTGTAGCTGGTGCTCCCAGGTGGGCTCGGGTCCTGAGGGTCCCTCTCCCCACTTACCAGGCCTGCCAATTCCAAGAACCTCAAGATCCTCTCATCATCGGCAGA... | TGACACTGTTTAGACTTGCTGGAGCATGATGACAGTAAAAAGCAAACCGCCTTCATCAATCCTATTCTTGTTTTAAAATTCTCCAATGAGAGCACTACCCCCTTCGTGCCTAAACCTGGCCAACAGCACACACTGTCAACTGATACTCCCATTCTCCACCCCAGGTTCAGACTTCCAGTCCTGGGCCCAAGCATAGCAGGGCCAGCACCTGCCTACCTGTAGCTGGTGCTCCCAGGTGGGCTCGGGTCCTGAGGGTCCCTCTCCCCACTTACCAGGCCTGCCAATTCCAAGAACCTCAAGATCCTCTCATCATCGGCAGA... | pathogenic | 223,306 |
Considering the variant on chromosome 14, location 74295205, involving gene ABCD4 (ATP binding cassette subfamily D member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACAGCCAGAGCTCCTTGGACATCAGCTCCCTCTGGGTCTGAAGGAGTCTCTGCAGCCTGCGGTCTGTCCTCATGTGCTCCACATGCCCAGCTCTGACAAGGAAAGGCTGGGATGTCCACAGGGCTGGAGAGGTTCAGCCAGGTTGGGGGGCCGCCTGTCCCATATCACACCCTCCTTTAGAAACCAAGGCCATTCAAATGATCTTGGTCTCAGGATCTGTCTACTGGTAGCGCCCATTCACGGCTTCAGTCATGCCTTAATGGTATTGTCTGTGTGAAGAACATAAACTCTAGAGTTGGGCAGACCTAGTTCAAATCCTG... | ACAGCCAGAGCTCCTTGGACATCAGCTCCCTCTGGGTCTGAAGGAGTCTCTGCAGCCTGCGGTCTGTCCTCATGTGCTCCACATGCCCAGCTCTGACAAGGAAAGGCTGGGATGTCCACAGGGCTGGAGAGGTTCAGCCAGGTTGGGGGGCCGCCTGTCCCATATCACACCCTCCTTTAGAAACCAAGGCCATTCAAATGATCTTGGTCTCAGGATCTGTCTACTGGTAGCGCCCATTCACGGCTTCAGTCATGCCTTAATGGTATTGTCTGTGTGAAGAACATAAACTCTAGAGTTGGGCAGACCTAGTTCAAATCCTG... | benign | 223,339 |
Variant in gene NPC2 (NPC intracellular cholesterol transporter 2), located at chromosome 14 position 74484498: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C', 'Niemann-Pick_disease,_type_C2'] | GTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGT... | GTGCAGCAGGGATGGGTCAGAGGTGAAGGTGGGGATTGGAGGGCAGAAAGAAGGCTGGAAAAAGCTACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGT... | pathogenic | 223,394 |
Variant in gene NPC2 (NPC intracellular cholesterol transporter 2), located at chromosome 14 position 74484564: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Niemann-Pick_disease,_type_C2'] | ACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAA... | ACCTCTCTGCCATGGAGCTAACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAA... | pathogenic | 223,396 |
Does the chromosome 14 mutation at position 74484584 within gene NPC2 (NPC intracellular cholesterol transporter 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Niemann-Pick_disease,_type_C2'] | ACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAAAATGGCATCAGCCGTTGCTG... | ACAAACTACTGCTCTCTTGTTTTGTTAAGAGATTAATGGAGAAACCAGGATTTTCTGATGACAATGTTAAGACAACTTGGATCTTTAATTATTTGGTACCTGGCTAAAATCTTTTAACATTGCACAGGCTTTGGAGTTATAAGACCCAGCTCAAAACCTGGGCTCCACTGCTTCTTAGTGGAGTGGACTCTGTTCATATTGCATAACTTCAGAGGCTCAAATTTCTTCAGCTGTAAAATAGAGATAATATCACCTCTACATAGGATGGTCATGAGATCCAAGTGAAATATTGTATATAAAAATGGCATCAGCCGTTGCTG... | pathogenic | 223,397 |
Variant at chromosome position 74508617, chromosome 14, gene LTBP2 (latent transforming growth factor beta binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glaucoma_3,_primary_congenital,_D', 'Glaucoma_3,_primary_infantile,_B', 'Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma', 'Weill-Marchesani_syndrome_3'] | TTTGAAGCCTCCCTTGCCCATGCTCTGGGGACCCGTGATGGAGCCACGTGACCAGGACCAGTTGAGGAGGAGGACCCCAGGGCCTTCCCTTCCCTGGCCCAGACCTTGGGTAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC... | TTTGAAGCCTCCCTTGCCCATGCTCTGGGGACCCGTGATGGAGCCACGTGACCAGGACCAGTTGAGGAGGAGGACCCCAGGGCCTTCCCTTCCCTGGCCCAGACCTTGGGTAGCCCACAGGCTCCTCACCCACACAGTCCCAGCCTGAGGGAGAGATCTCGAAGCCCTGGTCACAGAGGCAGCGGAAGGAGCCATCAGTGTTGTCACAGAAGCCGTGGCTGCCACACATGGTGTCGTTGGCGCACTCGTCTATGTCTGTGGGACAGTGGGAACCAGGATAGAGGATGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC... | pathogenic | 223,453 |
Chromosome 14, position 75004871, gene EIF2B2 (eukaryotic translation initiation factor 2B subunit beta): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_2', 'Vanishing_white_matter_disease'] | GGGGGCGGGAGATCGGCAACGAAGGGCGTAGCCGGCTTCCACTCAAACTTGAGGTTTCCCCCCATCCCCTCACAGCGGAAGCCGACCTCGCCCGCCCCGGAAGTGCAAACTGTGTGGTCTGGCAGGTGTGGATTCCGCCGGTGAAGGCTGAAGGCAGCTACCTTAAAGATGCCGGGATCCGCAGCGAAGGGCTCGGAGTTGTCAGAGAGGATCGAGAGCTTCGTGGAGACCCTGAAGCGGGGTGGTGGGCCGCGCAGCTCCGAGGAAATGGCTCGGGAGACCCTAGGGTTGCTGCGCCAGATCATCACGGACCACCGCTG... | GGGGGCGGGAGATCGGCAACGAAGGGCGTAGCCGGCTTCCACTCAAACTTGAGGTTTCCCCCCATCCCCTCACAGCGGAAGCCGACCTCGCCCGCCCCGGAAGTGCAAACTGTGTGGTCTGGCAGGTGTGGATTCCGCCGGTGAAGGCTGAAGGCAGCTACCTTAAAGATGCCGGGATCCGCAGCGAAGGGCTCGGAGTTGTCAGAGAGGATCGAGAGCTTCGTGGAGACCCTGAAGCGGGGTGGTGGGCCGCGCAGCTCCGAGGAAATGGCTCGGGAGACCCTAGGGTTGCTGCGCCAGATCATCACGGACCACCGCTG... | pathogenic | 223,541 |
For chromosome 14, position 75005875, gene EIF2B2 (eukaryotic translation initiation factor 2B subunit beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Leukoencephalopathy_with_vanishing_white_matter_2', 'Vanishing_white_matter_disease'] | CTTCCTGATTAGGAAATGTTGCAACAGGTGACAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTT... | CTTCCTGATTAGGAAATGTTGCAACAGGTGACAGGACCAAAGTAATCCTCTCTACTTTTCCTTACAGACCAACCCTTGATAGACTACAGATCTGTGGAGTGGAACAGACTCTATTAGGACAGAGTTTTATTTTCATTGTAAAGAAACAAAATGAACTCCCTAGAGAGCCAAGGTCGATAGACCTCCTTCACTATCTGAATTTTTATACACACGTACACGTATACCATTTCTATCCCCCTTGTCATTGCGGTCCAAGTGACTTGCAGATATTCATTGTAATCAGAGGATGAAGAAGCTGCTTCCAAATTGCTCCCCCATTT... | pathogenic | 223,545 |
Is the variant located on chromosome 14 at position 75017201, gene MLH3 (mutL homolog 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GAGTTAAAAACAACATAAAACCCTAACAGGCGATAAAGGTAATCTATTAGATATTTTTCCCTAATAGGTTGTTTTTATGCTGAGGCATGCCCCCACACTTATAAATTATGAAAACAGAATAATTATCTCTTACATTGCTTGAGTCAGGCTAGTCAGGAAGGCCGGTTACATAATTTATGGAGGACTTTTTCTAATCCTCTGCTACTCTCAAGAAAACAGTAGTTGGGATTACATATAGCAAAACCTTCTGAAATCATAAGAGGCACTGAGACACTTTTTAAAATCCCTCAAATTGGTCTGGCCTTAAAAGATTTTTACAA... | GAGTTAAAAACAACATAAAACCCTAACAGGCGATAAAGGTAATCTATTAGATATTTTTCCCTAATAGGTTGTTTTTATGCTGAGGCATGCCCCCACACTTATAAATTATGAAAACAGAATAATTATCTCTTACATTGCTTGAGTCAGGCTAGTCAGGAAGGCCGGTTACATAATTTATGGAGGACTTTTTCTAATCCTCTGCTACTCTCAAGAAAACAGTAGTTGGGATTACATATAGCAAAACCTTCTGAAATCATAAGAGGCACTGAGACACTTTTTAAAATCCCTCAAATTGGTCTGGCCTTAAAAGATTTTTACAA... | benign | 223,570 |
Assess the variant on chromosome 14, position 75039846, impacting MLH3 (mutL homolog 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAAAAAAAAGACAAAAAGAGTAAAAGTTGAAATATCTCCTTTGCACACCCTCATTTTCACTCCCAAAGTAAATACTCTTGATAGTTTAATGTGCATCCTGAGTATATGTATGTGTATGAACATAAAACTAAATGTCTGTCGCCCAGGCTGGAGTGTAATAGCGCAATCTCGGCTCACTACATCCTCTGCCTCCCAAGTTCAAGCGATTCTTGTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGCTCAGGCTGGTC... | AAAAAAAAAAGACAAAAAGAGTAAAAGTTGAAATATCTCCTTTGCACACCCTCATTTTCACTCCCAAAGTAAATACTCTTGATAGTTTAATGTGCATCCTGAGTATATGTATGTGTATGAACATAAAACTAAATGTCTGTCGCCCAGGCTGGAGTGTAATAGCGCAATCTCGGCTCACTACATCCTCTGCCTCCCAAGTTCAAGCGATTCTTGTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGCTCAGGCTGGTC... | benign | 223,619 |
Regarding the variant found on chromosome 14 at position 75041562 in gene MLH3 (mutL homolog 3): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTCTAAAAGGGCACTGTTGCACACTTAAGGACAAGGTCACTAAAGGACTTTGATTTATAAATTATTGCCAAATATAAAGTCAATATATAATCTTCTGCAGGAGAACCTTGAGAATCCTTGAAACTGTCAGCCTGAATCCATAATTCATTCCCTCCAAACCTACTTACACTACTAAAGATATTTCTTTCTTTGTAATTATAATTAATCCCTTGCTTTTTCTTCTGATGATAAAAGTTCTAGTAAGAACACACACACACACACACACACACACACGTGCCTTGACCAAGGTGGTCTATATCATTAAATAAATCAAATTTTA... | TTTCTAAAAGGGCACTGTTGCACACTTAAGGACAAGGTCACTAAAGGACTTTGATTTATAAATTATTGCCAAATATAAAGTCAATATATAATCTTCTGCAGGAGAACCTTGAGAATCCTTGAAACTGTCAGCCTGAATCCATAATTCATTCCCTCCAAACCTACTTACACTACTAAAGATATTTCTTTCTTTGTAATTATAATTAATCCCTTGCTTTTTCTTCTGATGATAAAAGTTCTAGTAAGAACACACACACACACACACACACACACACGTGCCTTGACCAAGGTGGTCTATATCATTAAATAAATCAAATTTTA... | benign | 223,623 |
Does the genetic variant at chromosome 14, position 75041577, impacting gene MLH3 (mutL homolog 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGTTGCACACTTAAGGACAAGGTCACTAAAGGACTTTGATTTATAAATTATTGCCAAATATAAAGTCAATATATAATCTTCTGCAGGAGAACCTTGAGAATCCTTGAAACTGTCAGCCTGAATCCATAATTCATTCCCTCCAAACCTACTTACACTACTAAAGATATTTCTTTCTTTGTAATTATAATTAATCCCTTGCTTTTTCTTCTGATGATAAAAGTTCTAGTAAGAACACACACACACACACACACACACACACGTGCCTTGACCAAGGTGGTCTATATCATTAAATAAATCAAATTTTAGAAGAGTTAGGCCAT... | TGTTGCACACTTAAGGACAAGGTCACTAAAGGACTTTGATTTATAAATTATTGCCAAATATAAAGTCAATATATAATCTTCTGCAGGAGAACCTTGAGAATCCTTGAAACTGTCAGCCTGAATCCATAATTCATTCCCTCCAAACCTACTTACACTACTAAAGATATTTCTTTCTTTGTAATTATAATTAATCCCTTGCTTTTTCTTCTGATGATAAAAGTTCTAGTAAGAACACACACACACACACACACACACACACGTGCCTTGACCAAGGTGGTCTATATCATTAAATAAATCAAATTTTAGAAGAGTTAGGCCAT... | benign | 223,624 |
Variant at chromosome position 75048669, chromosome 14, gene MLH3 (mutL homolog 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_7'] | GCATCTTCTACCGGATTCATTAACATTCCACTGGGAGAGTCAAGACTTCCTATCTGTTGTTCTGAGGCTCTGATAAGAACATCTGAATCTTTACCGGTAACTTTAGAATTATTATAGGGCAATACCAAAGGAGTTTCTGATATCACACAGTTCTCTGTTGTATTGCTGTTAGAATGTGTTTTACTATTTTTATTAAAGGAATTATCCTGTGTGGCAGAATCTGATGTTGGGATGACACCATTCTCTGTTTTTTCATGCTTGTTGTTAAATAACATACAAAAATCTTGTGTTAACACACTGCACAACTTGCTGTCTTTCCT... | GCATCTTCTACCGGATTCATTAACATTCCACTGGGAGAGTCAAGACTTCCTATCTGTTGTTCTGAGGCTCTGATAAGAACATCTGAATCTTTACCGGTAACTTTAGAATTATTATAGGGCAATACCAAAGGAGTTTCTGATATCACACAGTTCTCTGTTGTATTGCTGTTAGAATGTGTTTTACTATTTTTATTAAAGGAATTATCCTGTGTGGCAGAATCTGATGTTGGGATGACACCATTCTCTGTTTTTTCATGCTTGTTGTTAAATAACATACAAAAATCTTGTGTTAACACACTGCACAACTTGCTGTCTTTCCT... | pathogenic | 223,757 |
Benign or pathogenic: chromosome 14, position 75049531, gene MLH3 (mutL homolog 3) variant? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_7'] | TGGAAACGTGTCTATACCAGGGGAAAGAGGGGGATGTATCAGATAATATGCAATCTGTTTGTGATTTTTTGCTACCTTCCTGAAAAGCAGAAAACATTGTATAAGTTGCTGTAGGTTCATTCTCTAGCCCATAACTTATATTCGTTCTGCAATTTTTTTTGTTGGGCAATTGACCAGATTCTTTACTTAAAGTGCTGGCTAAATCTTTGATGTCTGGAGTTTCAACTGAATGACGTGTTCTATTTCCAAATGTTTCTTGGGCACGTGTGGGACCAGGTCTAACATAATTTTTAAATGAATGTTCTGTTTCAGTTGATTTA... | TGGAAACGTGTCTATACCAGGGGAAAGAGGGGGATGTATCAGATAATATGCAATCTGTTTGTGATTTTTTGCTACCTTCCTGAAAAGCAGAAAACATTGTATAAGTTGCTGTAGGTTCATTCTCTAGCCCATAACTTATATTCGTTCTGCAATTTTTTTTGTTGGGCAATTGACCAGATTCTTTACTTAAAGTGCTGGCTAAATCTTTGATGTCTGGAGTTTCAACTGAATGACGTGTTCTATTTCCAAATGTTTCTTGGGCACGTGTGGGACCAGGTCTAACATAATTTTTAAATGAATGTTCTGTTTCAGTTGATTTA... | pathogenic | 223,808 |
Mutation found at chromosome 14 position 75578850, gene FLVCR2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAGTAGGTGCCTTCAAGCAGGGAGTGATCATTTGAATCTAGTTCTCTCCTGGGAATCAGTGGTTCTAACTTGGCTGCACGTTTGGATGACCAGCGGAGCTTGTGACATGCAGATGTTCAGGTCCACCCTCGGAGATCGCTAAATGGGGTGTTGCCCGAACACTTGGGATATTAAGAGTTTCTTCATATGATTCTAATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTG... | AAGTAGGTGCCTTCAAGCAGGGAGTGATCATTTGAATCTAGTTCTCTCCTGGGAATCAGTGGTTCTAACTTGGCTGCACGTTTGGATGACCAGCGGAGCTTGTGACATGCAGATGTTCAGGTCCACCCTCGGAGATCGCTAAATGGGGTGTTGCCCGAACACTTGGGATATTAAGAGTTTCTTCATATGATTCTAATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTG... | benign | 223,853 |
Does the variant on chromosome 14 at location 75579022 affecting gene FLVCR2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Fowler_syndrome'] | AAGAGTTTCTTCATATGATTCTAATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTGTAAACAAATGAATCTCCTGGGCATCTTGTTAAAATGCAGCTTTCAATTCAGTGGGTCTAGGTTGGGCCTGACAACCTTCTTGGTTGTTTTGTGGTTGCCGTTTTGTTTTTTAAGGCCTTAACACTGGAGGGGATTCTGGCCTTCTAAAAAGCTCCCACAGGTGCCCACGCTG... | AAGAGTTTCTTCATATGATTCTAATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTGTAAACAAATGAATCTCCTGGGCATCTTGTTAAAATGCAGCTTTCAATTCAGTGGGTCTAGGTTGGGCCTGACAACCTTCTTGGTTGTTTTGTGGTTGCCGTTTTGTTTTTTAAGGCCTTAACACTGGAGGGGATTCTGGCCTTCTAAAAAGCTCCCACAGGTGCCCACGCTG... | pathogenic | 223,858 |
Does the chromosome 14 mutation at position 75579044 within gene FLVCR2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTGTAAACAAATGAATCTCCTGGGCATCTTGTTAAAATGCAGCTTTCAATTCAGTGGGTCTAGGTTGGGCCTGACAACCTTCTTGGTTGTTTTGTGGTTGCCGTTTTGTTTTTTAAGGCCTTAACACTGGAGGGGATTCTGGCCTTCTAAAAAGCTCCCACAGGTGCCCACGCTGCTAACCACAGACTGTGCTTGAA... | AATGTGCAGACAAAATGGAGAGCCACTTCCCAGAGCTTCAAGTTATTCATTTTCTGGTCTGAAGTTTAACAAAGAAAAAAAAAATAAAGAAGCAGTGATGCCCAGTAGCTCTCAAAATTTAATGTGTAAACAAATGAATCTCCTGGGCATCTTGTTAAAATGCAGCTTTCAATTCAGTGGGTCTAGGTTGGGCCTGACAACCTTCTTGGTTGTTTTGTGGTTGCCGTTTTGTTTTTTAAGGCCTTAACACTGGAGGGGATTCTGGCCTTCTAAAAAGCTCCCACAGGTGCCCACGCTGCTAACCACAGACTGTGCTTGAA... | benign | 223,859 |
Determine if the mutation at chromosome 14, position 75764623 in gene TTLL5 (tubulin tyrosine ligase like 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Central_areolar_choroidal_dystrophy', 'Retinal_dystrophy'] | CCTTGCCCTCATAGAACTATTATTCTGGCTTATCAGATTCATATTTTACCCAGCATTCCCTATCCTCTATCCCTTGTACTATTTAGGATTTATCTGTTTATCCAGGGTCTCTTGGTTCTTAGTTGTTATTTTAAAATATCTTTAGAGAAAGAGATTTGTAGTAGCTTCTCCATATCTGTGAGCTTTTAGCGTTCATGTTTTCAGAAGTTTATTTTTTGAGTTTTTGTTGATAAAAAGAAATCTTTTTTTCCTAAAGAATGGAGTTCTTGACAATGTAGACGGTATAATGTAGACAATATAAACTCTTGTTTATATAATGA... | CCTTGCCCTCATAGAACTATTATTCTGGCTTATCAGATTCATATTTTACCCAGCATTCCCTATCCTCTATCCCTTGTACTATTTAGGATTTATCTGTTTATCCAGGGTCTCTTGGTTCTTAGTTGTTATTTTAAAATATCTTTAGAGAAAGAGATTTGTAGTAGCTTCTCCATATCTGTGAGCTTTTAGCGTTCATGTTTTCAGAAGTTTATTTTTTGAGTTTTTGTTGATAAAAAGAAATCTTTTTTTCCTAAAGAATGGAGTTCTTGACAATGTAGACGGTATAATGTAGACAATATAAACTCTTGTTTATATAATGA... | pathogenic | 223,905 |
Mutation at chromosome 14, position 75820008, within TTLL5 (tubulin tyrosine ligase like 5): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cone-rod_dystrophy_19'] | CCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGCGATTATAGGCGTGAGCCACCGTGCCCGGCCCCATTCTTTCTTTTCTGATTCCACTACCACTGCCCAGGTTTTAAATACATCTGTATTTGCCATAACAACTTTAAAATAATTTTTTATTATAAAAGGTAATACATGCTCAGTTTATAAAATTTGGAGAATATAGATAAGGAAG... | CCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGCGATTATAGGCGTGAGCCACCGTGCCCGGCCCCATTCTTTCTTTTCTGATTCCACTACCACTGCCCAGGTTTTAAATACATCTGTATTTGCCATAACAACTTTAAAATAATTTTTTATTATAAAAGGTAATACATGCTCAGTTTATAAAATTTGGAGAATATAGATAAGGAAG... | pathogenic | 223,928 |
Does the genetic variant at chromosome 14, position 75863678, impacting gene TTLL5 (tubulin tyrosine ligase like 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | TTCTAAGCCCCCTTAACCAGGGTTTGGAGCAAGGTTGTTCATTATGAAAGTCTTATGTTTCTTCTATGTACAATTTTCCTGTCACTGTACCTAAAAAGGAAAAGAAATACAGTGTAATTAAAGATGGTCCCAAGAAGAATAACCAAAAGTGTTAAGGAGATGGAAGGACTGACAAGACTGTTCTCAAAAGAAATGAGACCTTTAGAAAATCATACTAAAATATATTTAGCATAAAATTTACCATTTTAACCATTTTAAAGTGTACAATTCAGTGGTATTTAGTACATTTATACTGTTTTGCAACTATTAGCCACCATCTG... | TTCTAAGCCCCCTTAACCAGGGTTTGGAGCAAGGTTGTTCATTATGAAAGTCTTATGTTTCTTCTATGTACAATTTTCCTGTCACTGTACCTAAAAAGGAAAAGAAATACAGTGTAATTAAAGATGGTCCCAAGAAGAATAACCAAAAGTGTTAAGGAGATGGAAGGACTGACAAGACTGTTCTCAAAAGAAATGAGACCTTTAGAAAATCATACTAAAATATATTTAGCATAAAATTTACCATTTTAACCATTTTAAAGTGTACAATTCAGTGGTATTTAGTACATTTATACTGTTTTGCAACTATTAGCCACCATCTG... | pathogenic | 223,929 |
Variant in gene TGFB3 (transforming growth factor beta 3), located at chromosome 14 position 75959320: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Rienhoff_syndrome'] | AAGCGGGGAAAAAAGTACTGACCAAACTCACTTCAGTCTTGGAGAACTCAAGGAACAAGGGACACACATACGTACACACACACACAGGCATGAACACATCAGACACATCCTTCAGCCTGCATACTTTAGCTTCAGATAGACTTTTCTTTTACTAGAGGCAAAGTGATCTCACTAGAAGAATGTGTTTCTCAGGAGCTGCTAGATGGCCTGTCGCTCTGTGCCCGCTCACTGTGGACGGCTGCCCCACGTGGATGTCCATACCACAGTGGGATCCACGGCCTCACTCAAAAGAGAGCTATGGTTCCCAGATCCCTGACAAG... | AAGCGGGGAAAAAAGTACTGACCAAACTCACTTCAGTCTTGGAGAACTCAAGGAACAAGGGACACACATACGTACACACACACACAGGCATGAACACATCAGACACATCCTTCAGCCTGCATACTTTAGCTTCAGATAGACTTTTCTTTTACTAGAGGCAAAGTGATCTCACTAGAAGAATGTGTTTCTCAGGAGCTGCTAGATGGCCTGTCGCTCTGTGCCCGCTCACTGTGGACGGCTGCCCCACGTGGATGTCCATACCACAGTGGGATCCACGGCCTCACTCAAAAGAGAGCTATGGTTCCCAGATCCCTGACAAG... | pathogenic | 223,949 |
Gene mutation in TGFB3 (transforming growth factor beta 3) at chromosome 14, position 75963348—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Rienhoff_syndrome'] | TGAGGAAGAGTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTG... | TGAGGAAGAGTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTG... | pathogenic | 223,970 |
Does the chromosome 14 mutation at position 75963357 within gene TGFB3 (transforming growth factor beta 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Rienhoff_syndrome'] | GTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAG... | GTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAG... | pathogenic | 223,971 |
Considering the genetic mutation at chromosome 14, position 75963357, impacting TGFB3 (transforming growth factor beta 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Loeys-Dietz_syndrome', 'Rienhoff_syndrome'] | GTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAG... | GTAAAGAGGCAAAGGTGGCCCTGCACCCTTTTCTATCACAATACAAAGCAGTGCTATGAAGCGCTCCACATAAAACCAAGCACTGAATGTTATTAGCCAACTCAGCTTTGTTGAGGTTGGTTTTATTTTTACCCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAG... | pathogenic | 223,972 |
Mutation found at chromosome 14 position 75963489, gene TGFB3 (transforming growth factor beta 3): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAGATCATTTGGCAATAATACCGCTTGCCAAGTGGACAGCTAGCCTCTGCTTTAATATCTGCTGAGACTTAGAACTTGCTACTTCCAAAGGCAGCTATTAGCCAAAATCTGGCTTCTTGTGGGTTCCAAGGGTGA... | CCTCCTAATGTGCACCCAGACAGAAATCAATTCTAAGTTTATGCAGCTTGACTACTATAGTAGGTGACTGCTGAGACTCAATCCAAAGGCCATTTAGCCAAATAAGGCATATCCTTCTATTAGAACCGTGGTTCAACAGATCACCCAAATGTGATTATCAGGCCCCTTCAATTCTGTTGCCTACAGAGATCATTTGGCAATAATACCGCTTGCCAAGTGGACAGCTAGCCTCTGCTTTAATATCTGCTGAGACTTAGAACTTGCTACTTCCAAAGGCAGCTATTAGCCAAAATCTGGCTTCTTGTGGGTTCCAAGGGTGA... | benign | 223,978 |
Variant on chromosome 14, at position 75971150, affecting TGFB3 (transforming growth factor beta 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rienhoff_syndrome'] | GACTTAAAACACCCAAAACTGTTGATGACTAGTCAAATCGAAAACAATGTGCAGGCCAAATAGTTTGTAAGCTCTGCCTTTGAGCTTTAACTCTTAGTTGCCTAAAACACCAAGGACTTAGAAGGATCCACCTGCCTCAGGGACTCTGGGCATCAATATGTGGATGGTCTGTGGCTTTATAGCAGCTGATGACAGGAGAAAACCTTGCCCAAGAGGAAGAGAAGGAACAGATGGGACTGCCATCTGTGACCCCAACCCACTGAGCATCAGACCAGGCAGTACCAGCCAAGAAAAGGGAAAGAAACACAGAGGATGGTGTC... | GACTTAAAACACCCAAAACTGTTGATGACTAGTCAAATCGAAAACAATGTGCAGGCCAAATAGTTTGTAAGCTCTGCCTTTGAGCTTTAACTCTTAGTTGCCTAAAACACCAAGGACTTAGAAGGATCCACCTGCCTCAGGGACTCTGGGCATCAATATGTGGATGGTCTGTGGCTTTATAGCAGCTGATGACAGGAGAAAACCTTGCCCAAGAGGAAGAGAAGGAACAGATGGGACTGCCATCTGTGACCCCAACCCACTGAGCATCAGACCAGGCAGTACCAGCCAAGAAAAGGGAAAGAAACACAGAGGATGGTGTC... | pathogenic | 223,987 |
Located at chromosome 14 position 75971727, the variant affecting gene TGFB3 (transforming growth factor beta 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AGGATAGCTCTACTTGCATGACGACCCGGCCTTTTAAACTTAACTGGGCAGAACAGAACCTGTTCTTCTCCTAGGCCCCCTATTTCAATAAGTGATACCACCTGGATGTCGAAAAAATTTAGAAGTTATCTGGAATGCTCTTGTGTCCTCACATCCCATACCTAATCAGCCTGTGCTACTGGCTACCTTCAAAATACAGAACAAATCCATCTGATCGTCATATCCACTGCTACCGCCCTAGTCTCGGCCTAGATATTGCTCTCATCTGGGCTGCCGCCGTGGCTCCTAACTCATTTTCCTGCCTCTTCCCTTGACCTCCT... | AGGATAGCTCTACTTGCATGACGACCCGGCCTTTTAAACTTAACTGGGCAGAACAGAACCTGTTCTTCTCCTAGGCCCCCTATTTCAATAAGTGATACCACCTGGATGTCGAAAAAATTTAGAAGTTATCTGGAATGCTCTTGTGTCCTCACATCCCATACCTAATCAGCCTGTGCTACTGGCTACCTTCAAAATACAGAACAAATCCATCTGATCGTCATATCCACTGCTACCGCCCTAGTCTCGGCCTAGATATTGCTCTCATCTGGGCTGCCGCCGTGGCTCCTAACTCATTTTCCTGCCTCTTCCCTTGACCTCCT... | benign | 224,009 |
Benign or pathogenic: chromosome 14, position 76491516, gene ESRRB (estrogen related receptor beta) variant? Disease(s) if pathogenic? | pathogenic | CACACACACACACCCTGATCCCCTGTCACAGCCTCTCCCCTGAGAAGGTGCATCAATCAAAGCTCCCCCGTGTCAGTCGGTGTAATCACTCCTGCTCTTTTGTTGATCACCCATGGATTCCATTAGCCAGTGGTGATCTGAGGCCCAAGTTGTATAGATCAGTCTTGGGAACTGTGATAATTCACTTGGAGAATGCTCACAGGGTAAGGGTGGTCTGCCTGGTCAGGGACCTTCAGCTCCAGGAGTGACCCCTAAGGTTCAACTGCCATGCCCTGTGTGGAAGCCAGGGAAGAAGTGGCATTTGGAGACAGGACAGCAGA... | CACACACACACACCCTGATCCCCTGTCACAGCCTCTCCCCTGAGAAGGTGCATCAATCAAAGCTCCCCCGTGTCAGTCGGTGTAATCACTCCTGCTCTTTTGTTGATCACCCATGGATTCCATTAGCCAGTGGTGATCTGAGGCCCAAGTTGTATAGATCAGTCTTGGGAACTGTGATAATTCACTTGGAGAATGCTCACAGGGTAAGGGTGGTCTGCCTGGTCAGGGACCTTCAGCTCCAGGAGTGACCCCTAAGGTTCAACTGCCATGCCCTGTGTGGAAGCCAGGGAAGAAGTGGCATTTGGAGACAGGACAGCAGA... | pathogenic | 224,087 |
Considering the genetic mutation at chromosome 14, position 77025655, impacting IRF2BPL (interferon regulatory factor 2 binding protein like): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures'] | CCTCCTGTTTTCTGCTCTTCTATTTGCCTCCCAGGAAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCT... | CCTCCTGTTTTCTGCTCTTCTATTTGCCTCCCAGGAAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCT... | pathogenic | 224,108 |
Mutation found at chromosome 14 position 77025670, gene IRF2BPL (interferon regulatory factor 2 binding protein like): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['IRF2BPL-related_disorder'] | TCTTCTATTTGCCTCCCAGGAAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCTAATCAACTAAGTCTT... | TCTTCTATTTGCCTCCCAGGAAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCTAATCAACTAAGTCTT... | pathogenic | 224,109 |
Variant at chromosome position 77025690, chromosome 14, gene IRF2BPL (interferon regulatory factor 2 binding protein like): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurodevelopmental_disorder_with_regression,_abnormal_movements,_loss_of_speech,_and_seizures'] | AAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCTAATCAACTAAGTCTTTAGAATTATTTCTGCCTTTA... | AAAGTACAAGGTTCAGATCAGGTTTGTTTGCCTTCCCCTACCACTGGGAGGACTCCAGGCTGCTCTCAGCCCACGAGCAGGGGCTCTGCTCTAAAGGGCAGTAGTCTTCTCTCCGCTTCCCCGCCTCTCTGCACCTCACAAACGCCGCCAAAAGCTGATTAGATGAATAATTGCATTGCTTCACCAGCAGGAATGGATTTTTATTTGATGTTGGAAGTAAACCTTTGCTTCAGGAACTAAGTTTGGGGTTTCCCCCCCTCTTCCTCATCCTCAGAAACCCTCTCTAATCAACTAAGTCTTTAGAATTATTTCTGCCTTTA... | pathogenic | 224,110 |
The mutation in gene IRF2BPL (interferon regulatory factor 2 binding protein like) at chromosome 14, position 77027301—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATACATAAGACTAACTTTTTGCAGTTTCGTTATATTCACAATTCTACACCTTGGGGGTGAGGGGAGGGAGGGTCGAGTTGGGTTGGGGGAGGGGCCCTCAGGATTGGAGAGGAGCTGGTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGG... | ATACATAAGACTAACTTTTTGCAGTTTCGTTATATTCACAATTCTACACCTTGGGGGTGAGGGGAGGGAGGGTCGAGTTGGGTTGGGGGAGGGGCCCTCAGGATTGGAGAGGAGCTGGTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGG... | benign | 224,123 |
Located at chromosome 14 position 77027304, the variant affecting gene IRF2BPL (interferon regulatory factor 2 binding protein like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CATAAGACTAACTTTTTGCAGTTTCGTTATATTCACAATTCTACACCTTGGGGGTGAGGGGAGGGAGGGTCGAGTTGGGTTGGGGGAGGGGCCCTCAGGATTGGAGAGGAGCTGGTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAA... | CATAAGACTAACTTTTTGCAGTTTCGTTATATTCACAATTCTACACCTTGGGGGTGAGGGGAGGGAGGGTCGAGTTGGGTTGGGGGAGGGGCCCTCAGGATTGGAGAGGAGCTGGTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAA... | benign | 224,124 |
Clinically, how would you classify the variant at chromosome 14, position 77027418, gene IRF2BPL (interferon regulatory factor 2 binding protein like): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAAT... | GTCTAGGGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAAT... | benign | 224,126 |
Gene IRF2BPL (interferon regulatory factor 2 binding protein like) variant at chromosome 14, position 77027424—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTG... | GGCAAAGGAGGTGGCTGCCCAGTGGTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTG... | benign | 224,127 |
Variant in IRF2BPL (interferon regulatory factor 2 binding protein like), chromosome 14, position 77027448—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTGGGGGTGCACTTGGTCCATGCCCGG... | GTTCAAGGGTCTCTCTCCTTTTTCACTTTAACATCCCCAGCTAAGATAGTCGCGATTTCGCCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTGGGGGTGCACTTGGTCCATGCCCGG... | benign | 224,131 |
For chromosome 14, position 77027508, gene IRF2BPL: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTGGGGGTGCACTTGGTCCATGCCCGGGTGGGCGCTAGGCGGCGGGGGCGCCACCTGTAAATTCAGGTCCCCGTTACGTGATGCCAA... | CCCTGCATGAAGGCCCAAGGTACATTCGACCCGACTAGGGGGCATTTCTCTCCGCTGGGGCAATACACCTCGCCGGTGGCCCCCTGGGCCTTGATACTCTCTCTAGAGCAAGGGAAGCAAAATTTGTGGCTGGGGACGGAAGGGCACTGAACGAAATGCGTATCCTCCAAACGTTCGTGGCAAATGGTGCAGCAGAGGGGTCCGCTGTTGGCCATGGGGGAATCCGGAATGTTTTGGGGGTGCACTTGGTCCATGCCCGGGTGGGCGCTAGGCGGCGGGGGCGCCACCTGTAAATTCAGGTCCCCGTTACGTGATGCCAA... | benign | 224,135 |
Is the genetic change at chromosome 14, position 77277422, within gene POMT2 (protein O-mannosyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | GCTGGGCTTCTCCTTCCTCACCCTCATGCAAGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAA... | GCTGGGCTTCTCCTTCCTCACCCTCATGCAAGGTGGCTGCCCCTCTGGCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAA... | pathogenic | 224,151 |
Gene POMT2 (protein O-mannosyltransferase 2) variant at chromosome 14, position 77277469—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intel... | GCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCCGCACAGACAGCGCTTCC... | GCTCCTTCAGAGCTCTTCCCTTCCAAGTTCCTACTGAGAAATAAGAAGGCACAAAGGAAAATCAGCCACCTCCTGGAGGTCACTGTGGGCCACCTGCTTTGCTAAGAGCCAAGCACAGACCCCTGCATTCTCCCTGCAGGAGAGCCCACCCGGCTCAGAAGAAAGCAATTCCGCCTGTGGGGAGGAGAGGAAGGGAGGGGAGGGGAGGACACACGGTGAGGTGGAAGCAGCGAGCAGAGCTTCTCCATCCCTCCTCTCCTTCCCTGCCAGAAATGCAATTAAGCAAGTGGCCCAGACTCAGCCGCACAGACAGCGCTTCC... | pathogenic | 224,153 |
Gene POMT2 (protein O-mannosyltransferase 2) variant at chromosome 14, position 77280078—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | CCATGGTGACTAAAGAGGGGTTCCCTGCCCCCCATTCCCACACTCCCCCTCTGAGAGCTGTTCTGGCACAGAGTCACTGTCACTAGAGGGGTACCCTTCCAGGTGCGCTGGGATGGCACAAAAGCTGAACCACCGGCAGAAGGGGAAAAGGCAGAGTTAAGCCCTGCTTCTCCTACCTGGCTGCACATTAGGATCACCTGGGGGACTCTGGAAACCACGGCCCCACCTGGGCTTGGGTGACGCAGAACCTCCAGGCATGGGCACTGGTGGTGTTAAAAGCACCGCAGGGGATTCTCGAATGCATCAGGGCTGAGGCACTG... | CCATGGTGACTAAAGAGGGGTTCCCTGCCCCCCATTCCCACACTCCCCCTCTGAGAGCTGTTCTGGCACAGAGTCACTGTCACTAGAGGGGTACCCTTCCAGGTGCGCTGGGATGGCACAAAAGCTGAACCACCGGCAGAAGGGGAAAAGGCAGAGTTAAGCCCTGCTTCTCCTACCTGGCTGCACATTAGGATCACCTGGGGGACTCTGGAAACCACGGCCCCACCTGGGCTTGGGTGACGCAGAACCTCCAGGCATGGGCACTGGTGGTGTTAAAAGCACCGCAGGGGATTCTCGAATGCATCAGGGCTGAGGCACTG... | pathogenic | 224,176 |
Is the genetic change at chromosome 14, position 77280404, within gene POMT2 (protein O-mannosyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Inborn_genetic_diseases', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2', 'POMT2-related_disorder'] | CCACACTGGGAGGGCATGTGAGGTGCAGAGATGCTCACCTGTAGGCAGTTCCCAGGAGCAGGCTCAGGATTCCCGCCACATGTATGCCCCTCGCCAGGGGCCATGAGGCCAAGCCCCAGGCACAGAGCCGCAGGAGGGTGTCCCACAGAATGCCTAGAGGAGAGGAGAGAAACCTGGAGTCAGCCAGGCAGGGGGTGACTTCTGGGCTACAGAAGAAGGAGGCACTCCAAGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCAACA... | CCACACTGGGAGGGCATGTGAGGTGCAGAGATGCTCACCTGTAGGCAGTTCCCAGGAGCAGGCTCAGGATTCCCGCCACATGTATGCCCCTCGCCAGGGGCCATGAGGCCAAGCCCCAGGCACAGAGCCGCAGGAGGGTGTCCCACAGAATGCCTAGAGGAGAGGAGAGAAACCTGGAGTCAGCCAGGCAGGGGGTGACTTCTGGGCTACAGAAGAAGGAGGCACTCCAAGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCAACA... | pathogenic | 224,179 |
For chromosome 14, position 77280458, gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | GGAGCAGGCTCAGGATTCCCGCCACATGTATGCCCCTCGCCAGGGGCCATGAGGCCAAGCCCCAGGCACAGAGCCGCAGGAGGGTGTCCCACAGAATGCCTAGAGGAGAGGAGAGAAACCTGGAGTCAGCCAGGCAGGGGGTGACTTCTGGGCTACAGAAGAAGGAGGCACTCCAAGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCAACAGTGGCCCGCCCTCCACCTGCTCTGTCTCCCAAGTCCAGGTGGGTGGCACTGACC... | GGAGCAGGCTCAGGATTCCCGCCACATGTATGCCCCTCGCCAGGGGCCATGAGGCCAAGCCCCAGGCACAGAGCCGCAGGAGGGTGTCCCACAGAATGCCTAGAGGAGAGGAGAGAAACCTGGAGTCAGCCAGGCAGGGGGTGACTTCTGGGCTACAGAAGAAGGAGGCACTCCAAGTCAAGGAGCAGAGAGTCACTCCCAGCACTGCTGCCCCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCAACAGTGGCCCGCCCTCCACCTGCTCTGTCTCCCAAGTCCAGGTGGGTGGCACTGACC... | pathogenic | 224,180 |
Gene mutation in POMT2 (protein O-mannosyltransferase 2) at chromosome 14, position 77283880—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTCCCGAGAGGCAAAATCACCCTCAATTAAGAACCACTGGTATAGCCTAAGAAAGACCCAGAAAGTTCAGTGGACTGCCACCCAGTGCCTTATGAATCCAGTTCAGCAAGGGGCTGGGAATAGTTTACAGGCCTCTACATGGTGGAGAGGTTGTGCCTCCAAGGTCAAAAGTGCATCCAGGGCATCAGACACAAAGGGGACAGCTGCACGGCCCCAGCGTCACTGCGGCCCTTTGAAGGACCTGGGAATGAGGAATGAATCATTCTGGACCCCTGCGGCAGTTGCTGAGGGAAACCAATTCCTTCAAATTGTACAGTTTG... | GTCCCGAGAGGCAAAATCACCCTCAATTAAGAACCACTGGTATAGCCTAAGAAAGACCCAGAAAGTTCAGTGGACTGCCACCCAGTGCCTTATGAATCCAGTTCAGCAAGGGGCTGGGAATAGTTTACAGGCCTCTACATGGTGGAGAGGTTGTGCCTCCAAGGTCAAAAGTGCATCCAGGGCATCAGACACAAAGGGGACAGCTGCACGGCCCCAGCGTCACTGCGGCCCTTTGAAGGACCTGGGAATGAGGAATGAATCATTCTGGACCCCTGCGGCAGTTGCTGAGGGAAACCAATTCCTTCAAATTGTACAGTTTG... | benign | 224,187 |
Chromosome 14, position 77285041, gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | CAGGGGAAAATTTAAGCTAGTGAGTAGAATTTTCTCAATTTAAAGATTTCTTCTCTGAATTTTTCTTAAACCTTTGATGCTACAACTGCTGTCAGCTACTAATGATAGAGAGTGCAAACAATGTCTTAGAAAACCTTAAAAAGAATCAATCATGCCCTGCCTAAGCAGTTTCTGTCCAGGAATATGAGTGGGCTCGTGGCTGGGATTTCATGCTGCATATAAACAACACACTCAAATTAGCTATCCATCCTAACTGATCCTGATTTCATATGATGGAATGAACTATCAGTATCTCATGATCTTCAACCAAGAGCACTATG... | CAGGGGAAAATTTAAGCTAGTGAGTAGAATTTTCTCAATTTAAAGATTTCTTCTCTGAATTTTTCTTAAACCTTTGATGCTACAACTGCTGTCAGCTACTAATGATAGAGAGTGCAAACAATGTCTTAGAAAACCTTAAAAAGAATCAATCATGCCCTGCCTAAGCAGTTTCTGTCCAGGAATATGAGTGGGCTCGTGGCTGGGATTTCATGCTGCATATAAACAACACACTCAAATTAGCTATCCATCCTAACTGATCCTGATTTCATATGATGGAATGAACTATCAGTATCTCATGATCTTCAACCAAGAGCACTATG... | pathogenic | 224,190 |
Evaluate the clinical significance of the mutation at chromosome 14, position 77285622 in gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | CACATGAGCTGTACAAGCAGTCACTGGTATCACCATCATCACCACCATCCTCATTCTGTGGTGAGGGAAATGCCTTTGAGGATCACAGAAAACCGTAGTAAAGATGCTTTCAAATTCCTCCACAAGGGGGAATGGATCTGTAGCATGGCATTGACTTGTGATCCAAATTCATGGCTGCCCAAAAGCTCTTAGAGACGCCATGAAATGAGAAGGGGACACATACCCGGATCATGACCATGTGGGATTCCAGCAAGATCTCAGGAAAACTGGGCTGTAGCACATCCAGGCTGATGTTTGGCACTAGGGGAAAAAAATGCAGG... | CACATGAGCTGTACAAGCAGTCACTGGTATCACCATCATCACCACCATCCTCATTCTGTGGTGAGGGAAATGCCTTTGAGGATCACAGAAAACCGTAGTAAAGATGCTTTCAAATTCCTCCACAAGGGGGAATGGATCTGTAGCATGGCATTGACTTGTGATCCAAATTCATGGCTGCCCAAAAGCTCTTAGAGACGCCATGAAATGAGAAGGGGACACATACCCGGATCATGACCATGTGGGATTCCAGCAAGATCTCAGGAAAACTGGGCTGTAGCACATCCAGGCTGATGTTTGGCACTAGGGGAAAAAAATGCAGG... | pathogenic | 224,196 |
The chromosome 14, position 77286782 genetic variant in gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | GCCACTTTAGGGAGAGGAGTTTACGGAGGGAGTGGATGAGAAGGAAAAGGAGTATGCTATGTAGGTACAGACAACTCATAGAAAGAGAGTGTTAACAAGGAACAAACAGCAGCAAGTTGAAGGGATAGCACAGTTTACAAACGCTTACTTTTCTAAGATAAGGGTTTCTTATAAATGCTTCCCTCCAGAGCCAGCCCAGAAAGTGACCTCACTCACACTTGGGATTGATATGGTCCTCCACATTCCAGATGGAGTTGAGGGTTTCTTTCAGGTATGGGGTGCAAGTAACTTCCAACTGCTCCCAGCCCCTGTGAAAAGCA... | GCCACTTTAGGGAGAGGAGTTTACGGAGGGAGTGGATGAGAAGGAAAAGGAGTATGCTATGTAGGTACAGACAACTCATAGAAAGAGAGTGTTAACAAGGAACAAACAGCAGCAAGTTGAAGGGATAGCACAGTTTACAAACGCTTACTTTTCTAAGATAAGGGTTTCTTATAAATGCTTCCCTCCAGAGCCAGCCCAGAAAGTGACCTCACTCACACTTGGGATTGATATGGTCCTCCACATTCCAGATGGAGTTGAGGGTTTCTTTCAGGTATGGGGTGCAAGTAACTTCCAACTGCTCCCAGCCCCTGTGAAAAGCA... | pathogenic | 224,199 |
For chromosome 14, position 77291372, gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | GAGGTTGCAGTAAGCCGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAGAAGAAGAAAAACTCCTTCGATGAATAGCAAATGGGTTTCATACTGTAAGGGTGGGTGGGGTGGGGGAGAGTGGGAACAGATGAGGCTATGAACGAGTGTGGCCAGACTGCATATTCCAGGCTGGAATGTGGCCTTTACCCGATGAGGCACTGAAGCCCCCACTGGAGCTTAAGCTGGGAAGCTAAATAGTAAGACTTTAGTAGTAATAACAGCCTTCTAAAAAGTAATTCCATACAAATGAC... | GAGGTTGCAGTAAGCCGAGATTGCGCCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAGAAGAAGAAAAACTCCTTCGATGAATAGCAAATGGGTTTCATACTGTAAGGGTGGGTGGGGTGGGGGAGAGTGGGAACAGATGAGGCTATGAACGAGTGTGGCCAGACTGCATATTCCAGGCTGGAATGTGGCCTTTACCCGATGAGGCACTGAAGCCCCCACTGGAGCTTAAGCTGGGAAGCTAAATAGTAAGACTTTAGTAGTAATAACAGCCTTCTAAAAAGTAATTCCATACAAATGAC... | pathogenic | 224,210 |
Clinical significance of chromosome 14, position 77296228, gene POMT2 (protein O-mannosyltransferase 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | TCCAATACCCTGTAATATGGTTTGGCTTTATGTCCCCACCCAATTCTCATCTTGTGGCTCCTCTAATTCCCACGTGTTGTGGGAGGGACCCGGTGGGAGATGATTGAGTCACGAGTGAATGGGTCTCACAAGATCTGATGGTTTTATTTTTTTATTTTTTGAGATGGAGTCTCACTCTTTTGCCTGGGCTGGAGTACAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTGGCTGGGATTACTGGCACGTGCCATCAAGCCCGAGTAATTTTTTTGTAT... | TCCAATACCCTGTAATATGGTTTGGCTTTATGTCCCCACCCAATTCTCATCTTGTGGCTCCTCTAATTCCCACGTGTTGTGGGAGGGACCCGGTGGGAGATGATTGAGTCACGAGTGAATGGGTCTCACAAGATCTGATGGTTTTATTTTTTTATTTTTTGAGATGGAGTCTCACTCTTTTGCCTGGGCTGGAGTACAGTGGCGCAATCTCAGTTCACTGCAACCTCCACCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTGGCTGGGATTACTGGCACGTGCCATCAAGCCCGAGTAATTTTTTTGTAT... | pathogenic | 224,215 |
Does the variant on chromosome 14 at location 77301227 affecting gene POMT2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | GCCTATCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATA... | GCCTATCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATA... | pathogenic | 224,234 |
The genetic variant at chromosome 14, position 77301232, affecting gene POMT2: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | TCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATAGAGAG... | TCCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATAGAGAG... | pathogenic | 224,236 |
Chromosome 14, position 77301233, gene POMT2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | CCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATAGAGAGC... | CCTTGCTAAGTACAGGGGACTCTGTTTAGAGATAAGGGACAATTTGGCTATAACGAAAATAGCTTCTTCCTTCAGGTTAGGGTGCTGGCCTTTCTGAGCCCTTAGCATATACCCAAAGGATAGAACATAGCAGGAAAGAAACAGGAAAAAGCCCCTGGGGTCCCTCACCTATCATTTTAACCACAGACCCAGAAAATCATCCGACCCCTCCACAGGCTTAGGAGCAAAAGGAAAACCAGAAGCAAGATGCTGCAAAGGCTCTGTCTGTACCTTTTACTCAGCACCATGAAGTGAACAGCAAAGGTGGCTGTATAGAGAGC... | pathogenic | 224,237 |
Evaluate if the mutation on chromosome 14 at position 77306336 in POMT2 (protein O-mannosyltransferase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A2', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B2'] | ATTTACCTTTATATTCAGTTGAAATTAGTTAAGGAATGCAAACTAATCTTAACTTAAGAGAAGCAAAATTAGAATTATAAGCTTCCTTCAAAAACACACATACTCACATACAAATCTATCTTATTACCCATTCCAAACTCAACCGTGAATAACGTGGAGGTAAATCTATTCCTTGGGATTACCCACGCCGATTCTCCCCTCCAATAATATAAAGGCTTGTTATATATAACTATTGATATACATTAAGTATTACTAGTGAATGAGATTTGTAGTACATTTTACCCAATCCTAAAATTAATTGAACTGGACCCACATATAGG... | ATTTACCTTTATATTCAGTTGAAATTAGTTAAGGAATGCAAACTAATCTTAACTTAAGAGAAGCAAAATTAGAATTATAAGCTTCCTTCAAAAACACACATACTCACATACAAATCTATCTTATTACCCATTCCAAACTCAACCGTGAATAACGTGGAGGTAAATCTATTCCTTGGGATTACCCACGCCGATTCTCCCCTCCAATAATATAAAGGCTTGTTATATATAACTATTGATATACATTAAGTATTACTAGTGAATGAGATTTGTAGTACATTTTACCCAATCCTAAAATTAATTGAACTGGACCCACATATAGG... | pathogenic | 224,247 |
Variant in SPTLC2 (serine palmitoyltransferase long chain base subunit 2), chromosome 14, position 77570556—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATTAAGAGAGAGGGGTTAGGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCGTCTGTACTAAAAATACAAAATATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATCACACCACTGCACTCCAGCCTGGGCAAGAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGA... | ATTAAGAGAGAGGGGTTAGGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCGTCTGTACTAAAAATACAAAATATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAAATCACACCACTGCACTCCAGCCTGGGCAAGAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGA... | benign | 224,380 |
Does the genetic variant at chromosome 14, position 77616457, impacting gene SPTLC2 (serine palmitoyltransferase long chain base subunit 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAACCAAAAAAACAAAAAAAATCATACCTCGGCCTGGTGCGCCTGTAATCCCAGCACTTT... | AATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAACCAAAAAAACAAAAAAAATCATACCTCGGCCTGGTGCGCCTGTAATCCCAGCACTTT... | benign | 224,401 |
Assess the variant on chromosome 14, position 81068278, impacting TSHR: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_gestational_hyperthyroidism', 'Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor', 'Hypothyroidism_due_to_TSH_receptor_mutations', 'TSHR-related_disorder'] | AATTCAGTAGAAGATTTGGAGCAATGGAAAAGATGCTTAGGGAAACAAGTTGGCAGCCTTGAAAAATGAATCTTGCTCTGCTAGCTTGCTCAGCTTCATCCATGGTAAATCCCCACAGTCTCTACACGGTAAATTAATTCCTTTCAATCTGTTCCATTGTTTCCTTTATGTTAGAAATATATTTGTATCAAAACAATTTATATAACGTTATTATCTGCAAGAGGCAAAGGGTTAAGAGACTGGGTAAATCAAAGGATAATTATTTAGAGAACAGGTAATTCAAAATAGAAAGCACAGAGCCATTATAATACTCATAATAA... | AATTCAGTAGAAGATTTGGAGCAATGGAAAAGATGCTTAGGGAAACAAGTTGGCAGCCTTGAAAAATGAATCTTGCTCTGCTAGCTTGCTCAGCTTCATCCATGGTAAATCCCCACAGTCTCTACACGGTAAATTAATTCCTTTCAATCTGTTCCATTGTTTCCTTTATGTTAGAAATATATTTGTATCAAAACAATTTATATAACGTTATTATCTGCAAGAGGCAAAGGGTTAAGAGACTGGGTAAATCAAAGGATAATTATTTAGAGAACAGGTAATTCAAAATAGAAAGCACAGAGCCATTATAATACTCATAATAA... | pathogenic | 224,425 |
Regarding the variant found on chromosome 14 at position 81091090 in gene TSHR: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_gestational_hyperthyroidism', 'Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor', 'Hypothyroidism_due_to_TSH_receptor_mutations'] | CAGTGGTGTGATCTTGGCTCACTGCAACCGCCACTTCCTGCATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTGTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCTGGCCAATAGTTGTATATTGAAGAGGTGGGTGTGAGAGATGCCAGGGGAATGGAAGACACTGATGGGATATGAAGATGA... | CAGTGGTGTGATCTTGGCTCACTGCAACCGCCACTTCCTGCATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTGTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACTGTGCCTGGCCAATAGTTGTATATTGAAGAGGTGGGTGTGAGAGATGCCAGGGGAATGGAAGACACTGATGGGATATGAAGATGA... | pathogenic | 224,428 |
Mutation found at chromosome 14 position 81092607, gene TSHR: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypothyroidism_due_to_TSH_receptor_mutations'] | AAATGGTACTGTTATAATGGTACTCTCAGGTCACTGCTGTAGGAAAGATATTCTTGGCAAAATAACAGCATAATATCATGTAGAGCTTGAAAGAGGAAGCTGGCTTAAAGTCATCATATCTTCCTGTCCCATCTTCTTCTTAGCCCTTCACTAACAAACACATAATTTTTTCCAATTAAACGAGAAAATCACACACACACACACACGAAAACTGAATTTATATTTCTAGTAAACCCACTTGGTTAAAACAATCTCCAGAGCATTCTAAGCCGAGCAGATGTATTGACACCAGTGGACTGGATTAAATTATTATGCCTTGA... | AAATGGTACTGTTATAATGGTACTCTCAGGTCACTGCTGTAGGAAAGATATTCTTGGCAAAATAACAGCATAATATCATGTAGAGCTTGAAAGAGGAAGCTGGCTTAAAGTCATCATATCTTCCTGTCCCATCTTCTTCTTAGCCCTTCACTAACAAACACATAATTTTTTCCAATTAAACGAGAAAATCACACACACACACACACGAAAACTGAATTTATATTTCTAGTAAACCCACTTGGTTAAAACAATCTCCAGAGCATTCTAAGCCGAGCAGATGTATTGACACCAGTGGACTGGATTAAATTATTATGCCTTGA... | pathogenic | 224,431 |
Chromosome 14, position 81139779, gene TSHR: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_gestational_hyperthyroidism', 'Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor', 'Hypothyroidism_due_to_TSH_receptor_mutations'] | TGTCACGCAGTAACTGAAATAATTACTAACATGTTTTCTCAAGAAATATGTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCT... | TGTCACGCAGTAACTGAAATAATTACTAACATGTTTTCTCAAGAAATATGTATTAAAATGCAAACACATTACTTGGATGAACTCTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCT... | pathogenic | 224,439 |
A mutation at chromosome position 81139862 on chromosome 14 in gene TSHR: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | CTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTAACCGCAAAGGTGTTTATTTATGCCAGTTTATAAA... | CTTTCAGATGAACACACACAATCAGTGTATCTAGCAGACAACAAAGCAGGGAAATGAGCCATGAGATGCTCTCCCGTTTCACTGACGTGAAAGCATCACTGGGAAAGGCAACCTAAGATGCTTCCAGAAAGCTGGAATTGAAAGATGGCCACACCTTGAAGACAGCATGGCTAAAAGAGAAAGACATGCCTCAAAAAGGACGGATGAGGCCAGAGAGCAAACCCAGATTCATTTTCTTCACAACTGTGCTTAAGTCTGGCTCAAAAGTCCCTCCACTCTCTCACTAACCGCAAAGGTGTTTATTTATGCCAGTTTATAAA... | pathogenic | 224,440 |
The genetic variant at chromosome 14, position 81143892, affecting gene TSHR: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACC... | GGTTTTAGAGCTTTGAATAGGAATAATAATAACAATAACCACCATATGGCACTCACAAAGCTGCAGGTGCTATTGTAAGAGCCTTAAAAAGATAAATTCATTGAATCCTTTAATAACCCTATATGAAATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACC... | pathogenic | 224,454 |
Variant chromosome 14, position 81144019, gene TSHR: benign or pathogenic? Disease(s)? | pathogenic; ['Familial_gestational_hyperthyroidism', 'Familial_hyperthyroidism_due_to_mutations_in_TSH_receptor', 'Hypothyroidism_due_to_TSH_receptor_mutations'] | ATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGCTAATTTTTGGATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCA... | ATAGTCACTCCCATTGTCCCATGTTACAAATGAGTTAACCAAACTTCATGGGCCTACCCAAGCTAGTCAATAATTGAGCCAGGTTCCCACCAAGGCGACTGGCTCCAGCATCCACATTTTTTTTTTAAACAGAGTCTCACTCTGTCGCCACTCAGCCTGGAATGCAGTGGCGCAATCTTGACTCACTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACGTGCCACTACGCCTGGCTAATTTTTGGATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCA... | pathogenic | 224,457 |
Variant in GALC (galactosylceramidase), chromosome 14, position 87939899—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GTGGCAAATCTTAATAAATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGT... | GTGGCAAATCTTAATAAATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGT... | pathogenic | 224,491 |
A mutation at chromosome position 87939914 on chromosome 14 in gene GALC (galactosylceramidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | AAATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCA... | AAATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCA... | pathogenic | 224,492 |
A genetic variant at chromosome 14, position 87939915, affecting gene GALC (galactosylceramidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | AATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAG... | AATGGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAG... | pathogenic | 224,494 |
Evaluate this variant at chromosome 14, position 87939918, gene GALC (galactosylceramidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGA... | GGTGAAATATAGCATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGA... | pathogenic | 224,495 |
Gene mutation in GALC (galactosylceramidase) at chromosome 14, position 87939931—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGAGGAATATGGAGAA... | ATGCTTTTGTTCCTGTGTTCTCTCATGGGGAAACACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGAGGAATATGGAGAA... | pathogenic | 224,497 |
Is the genetic variant on chromosome 14, position 87939964, gene GALC (galactosylceramidase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGAGGAATATGGAGAAAAGCCTGTCACTAAAGGAGCTATGTGCTAGTGA... | CACATTATTGTTAAAAAAAAAAAAGTCATTTTTTCCTAAATTGATGTGTAAATTTAATGTAATACCAGCACCATTTTTCAAGTAACTGAAAGTTTGTTTTTTAAAAGTCAAATCGAATAATATATATAGTGGAATAGCAAAGATAATTTTGAAAAAGAAACAATGAGGAAGTTGCCCCACCAGATATCCATTCATTCATTTACCAAGTATTATTCGGACTCTTGCTCTGCCTGGCTGTCAGGCACTTTTCTAGGTGCTACAGAGCCAGCAGTGAGGAATATGGAGAAAAGCCTGTCACTAAAGGAGCTATGTGCTAGTGA... | pathogenic | 224,499 |
Variant at chromosome position 87941372, chromosome 14, gene GALC (galactosylceramidase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TCTTGGGAGAGACCAACACATTATACACAAAAATTTATCTGCACAGCATCCCTTGGAAGCACTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATC... | TCTTGGGAGAGACCAACACATTATACACAAAAATTTATCTGCACAGCATCCCTTGGAAGCACTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATC... | benign | 224,502 |
Mutation at chromosome 14, position 87941414, within GALC (galactosylceramidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ACAGCATCCCTTGGAAGCACTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAA... | ACAGCATCCCTTGGAAGCACTGTCGAGCAGTAACTCATGATCACCCAGTGATTCTCAGGAACATTTTTATATTTCTATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAA... | pathogenic | 224,505 |
Mutation at chromosome 14, position 87941489, within GALC (galactosylceramidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGA... | TATTATACTAAAATTAATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGA... | pathogenic | 224,510 |
Regarding the variant at chromosome 14 and position 87941505, affecting gene GALC (galactosylceramidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGC... | ATCTGGTATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGC... | pathogenic | 224,513 |
Classify the chromosome 14 variant at position 87941511 affecting gene GALC (galactosylceramidase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGCACCAAG... | TATTTTCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGCACCAAG... | pathogenic | 224,514 |
The genetic variant at chromosome 14, position 87941516, affecting gene GALC (galactosylceramidase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGCACCAAGGCAGA... | TCTCTGACTAAAATATTCATGGAAACCAATTTCTAAAAATTATGCTTATAATTGAAAACCAAATTATTCTTAACCATCAAAAATAAATGCATATGGCTTTGCTTACATCTATAAGCTCCATGTACAGTCTTGGTTCAAGCAAACTTGAAAAAAATAGTTCAATTATTGACTCTATCAATTATGCCTCAGTTTAAAAAACAAAATAAAATTTTTTAAAAAAATAGTGACCTGATAAAGTCAACTGCTGATGGTTCTCACATAGGTTACCCTCACACATGTAACTATCCTAGGGATGAGTGGCTTCCCGGCACCAAGGCAGA... | pathogenic | 224,515 |
Mutation at chromosome 14, position 87947725, within GALC (galactosylceramidase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATTCAAATACACCAGTTTGATCAGCAAAGTTTGGAGCTTCACTAAAAAATGGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTAGTATCAAATCCTTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTT... | ATTCAAATACACCAGTTTGATCAGCAAAGTTTGGAGCTTCACTAAAAAATGGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTAGTATCAAATCCTTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTT... | pathogenic | 224,539 |
Clinical significance of chromosome 14, position 87947744, gene GALC (galactosylceramidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATCAGCAAAGTTTGGAGCTTCACTAAAAAATGGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTAGTATCAAATCCTTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTTTGAAGTAAGACCTAGATTC... | ATCAGCAAAGTTTGGAGCTTCACTAAAAAATGGGTAATCTGTTCAGAATGTAAGAAATTCTCTGTTTAGTATCAAATCCTTCAGAAGCTCTCCTTGCTGATATTTTATAGTATGTCTGAAACACTTCTGAAAGCTTTTAAATAAATAAATAAAATCTAAACCAAAGTTTAGGGCCTAGGTCTAATAAAGATACATTAATTTTTGTATCATCATTACTAAATATCAAGATGATGAGTTCGACATATAGATGCTGCATAATATTTAATCCAGGCATCTGGTGTAGAGGAAAGGTCATGAGTTTTGAAGTAAGACCTAGATTC... | pathogenic | 224,540 |
Evaluate the clinical significance of the mutation at chromosome 14, position 87949909 in gene GALC (galactosylceramidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GCCATCGCTGTCAAGGAGCTGAAAAAGAAGACACTACTGTATTCAGGACCAGGTACTATAGCTCATCTCATGTGGACAGAATAGCTTTAAAAAAATTAGCTTAAAGAAAAGTCCAAATCATTTCTGTTAGAACTTCCTAAACATTTGTGGAAAACTCACCAATATCAAGGCCCTTGGAATCTTTTTTTCCTAAGTATTTTAGAAAACTTTATAAAATTATGCTTTATAATTTTAAACAACCTTACTTCATGGAAGGAAGGACTAAATAATCTCAAAATCTATTTCTATTAGCCTATTCTTTTCCACTACACAGTAAGCTC... | GCCATCGCTGTCAAGGAGCTGAAAAAGAAGACACTACTGTATTCAGGACCAGGTACTATAGCTCATCTCATGTGGACAGAATAGCTTTAAAAAAATTAGCTTAAAGAAAAGTCCAAATCATTTCTGTTAGAACTTCCTAAACATTTGTGGAAAACTCACCAATATCAAGGCCCTTGGAATCTTTTTTTCCTAAGTATTTTAGAAAACTTTATAAAATTATGCTTTATAATTTTAAACAACCTTACTTCATGGAAGGAAGGACTAAATAATCTCAAAATCTATTTCTATTAGCCTATTCTTTTCCACTACACAGTAAGCTC... | pathogenic | 224,551 |
Does the variant impacting GALC (galactosylceramidase) on chromosome 14, position 87950679, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | AGTTATTATCCTTGTTTTAATGGTAAATTGATGATCAGATCTATGAAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTC... | AGTTATTATCCTTGTTTTAATGGTAAATTGATGATCAGATCTATGAAATACCTGACCGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTC... | pathogenic | 224,558 |
Clinical impact (benign or pathogenic) of the variant at chromosome 14, location 87950735, gene GALC (galactosylceramidase): what disease(s) if pathogenic? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGATATAAAGCTAAA... | CGTTATATTCAGGTTGAAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGATATAAAGCTAAA... | pathogenic | 224,560 |
Variant chromosome 14, position 87950751, gene GALC (galactosylceramidase): benign or pathogenic? Disease(s)? | benign | AAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGATATAAAGCTAAATAAGGCAAGGCTCAGT... | AAGAATAACCCCAAATGACATTATTTTTCTTATGAGGAAAATCAATTTTATTATGCCATTCCTAGCAATTTGTTACACAAAAAGTATGAACTTTTTTTTCAGAACTTAATACATAATAAGGTGTTTTATCACTGTTAGTGACTAGTTGGTTATCAGAACATTAATAATAACCAGAAAAAGTGGTAGACTTGTGTCAATTAAGTGAAATAATGTGCTTGTTTGGGCCAATTCGTTCTTTGAAACCTTTCCCCAGAAAGCACCATGGATGAGGCACTGTGGGAAGCACCTGGGATATAAAGCTAAATAAGGCAAGGCTCAGT... | benign | 224,561 |
Does the genetic variant at chromosome 14, position 87963414, impacting gene GALC (galactosylceramidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GTAAAATGGTGCAGTAACTTTGGAAAACAATTTGGTAGTTCCTCAAAATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCC... | GTAAAATGGTGCAGTAACTTTGGAAAACAATTTGGTAGTTCCTCAAAATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCC... | pathogenic | 224,566 |
Considering the genetic mutation at chromosome 14, position 87963460, impacting GALC (galactosylceramidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | AATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAGTTTCTGGTGAAGAAGATGAGAT... | AATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAGTTTCTGGTGAAGAAGATGAGAT... | pathogenic | 224,567 |
Located at chromosome 14 position 87963461, the variant affecting gene GALC (galactosylceramidase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAGTTTCTGGTGAAGAAGATGAGATG... | ATCCTAAAGACAGAGTTACCATGTGACCCAGCAATTCCACTCCTACATACATACCCAAGAGAACTGAAAACACGTTCACAGAAAAACTTGTACACATATGCTAATCCACACCATTAGTCATAACAGCCATGATGGGGTTCAAGACACACTCCCCGCAAATATTTTAAAGTGAAATAATTTGAGAAAAATGTAGAAGCAGGAAGTTTACTCTCTGACCTTCTCCTTTCTCCTCTGAAGCAGGTCATAAGACCCTCACTCAACAGGTGCTCTCCCTATTTTCCTTATCTCTGAAGACAGTTTCTGGTGAAGAAGATGAGATG... | pathogenic | 224,568 |
Variant at chromosome 14, position 87965516, gene GALC (galactosylceramidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CTTCAGGTAATACCAGCCAGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATA... | CTTCAGGTAATACCAGCCAGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATA... | pathogenic | 224,573 |
Evaluate the clinical significance of the mutation at chromosome 14, position 87965525 in gene GALC (galactosylceramidase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ATACCAGCCAGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCC... | ATACCAGCCAGGTTGAGTAAACTGAGTGGTATGAGCTATAGAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCC... | pathogenic | 224,574 |
Does the variant impacting GALC (galactosylceramidase) on chromosome 14, position 87965565, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAA... | GAAAAACAGAAAGTTCCAAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAA... | pathogenic | 224,580 |
Variant chromosome 14, position 87965582, gene GALC (galactosylceramidase): benign or pathogenic? Disease(s)? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | AAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTACCAAAAAAAGG... | AAATAAGACAAAAATGGTAATAATAGTATTTCTTTTGGGAAAAAAAAAAAGCTGTATATCAATTTGAGTCTGATTCATCCAAACAAGCTATTTTCTATTTTGCAGGAATATATCCGTCAACCTCATGTTTAAATTTTTAAATAATTAATCTAGATAAATGGTACAATTGCAAGAAGATTCCTGGAATGATGGGTAAAAATAAATGAACCTGTCAGTTCAAGAATATGATCAGTCTTTTTTTTAAGAATAAAATAGTTATTCCCCCCCCAAACTTGGTTCATCACTATTTAATCCATCCTAAAATAGCTACCAAAAAAAGG... | pathogenic | 224,581 |
Is the chromosome 14, position 87968494 variant in GALC (galactosylceramidase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAAAAACAAAGCTTACCCACAGAATTTTATTTTTCCTATCAAGTCCTCATCCAGTATAAAAAAAAGAGACTGACATTCTTAGCAAATCAAAGCCTTCTAATTCTATCAGTACAAAGTAGAAATAATAGTCCTAATTTTCAAAACACCTTACTACTAGTGAATATTTTAAGTTCTTATAATTTTGCCCATGGTTTGCAAGATGTGTGGTATCCTTTCTGGCTAGTGATAGATGTATAACTCAAGACAAGCTTTCTGGAGGGCATTTTGTAAAATACATACAAAACCCTTCAAAATCTATGTATTTCTGACCATTCCATTTC... | AAAAAACAAAGCTTACCCACAGAATTTTATTTTTCCTATCAAGTCCTCATCCAGTATAAAAAAAAGAGACTGACATTCTTAGCAAATCAAAGCCTTCTAATTCTATCAGTACAAAGTAGAAATAATAGTCCTAATTTTCAAAACACCTTACTACTAGTGAATATTTTAAGTTCTTATAATTTTGCCCATGGTTTGCAAGATGTGTGGTATCCTTTCTGGCTAGTGATAGATGTATAACTCAAGACAAGCTTTCTGGAGGGCATTTTGTAAAATACATACAAAACCCTTCAAAATCTATGTATTTCTGACCATTCCATTTC... | benign | 224,595 |
A genetic variant at chromosome 14, position 87976435, affecting gene GALC (galactosylceramidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TGAAGATAAAACATTCATCAGTATTTACATACCAAATAACAAAGCAGAAGCTTCCAGTATTTACGTACCAAATAACAAAGCAGAAGCTTCCACACAGCAAAAACTGCCTAAGATTGAAAGGAGAAATAGACCCCACTAACATAAGGAAACAAACACACCTGGGTAGCCCTGAACAGTTCAAGTGGACAAAATCGTTAAGATACAAAATACCTGAACAATATAACCAAAAGGTTATATATAAACTCAATTCTGTATCCTAATAAAGAATACATCTTAATAAATCAAAATATGCTCTTGAGATAGTCAAGAAAAAAGCGAAG... | TGAAGATAAAACATTCATCAGTATTTACATACCAAATAACAAAGCAGAAGCTTCCAGTATTTACGTACCAAATAACAAAGCAGAAGCTTCCACACAGCAAAAACTGCCTAAGATTGAAAGGAGAAATAGACCCCACTAACATAAGGAAACAAACACACCTGGGTAGCCCTGAACAGTTCAAGTGGACAAAATCGTTAAGATACAAAATACCTGAACAATATAACCAAAAGGTTATATATAAACTCAATTCTGTATCCTAATAAAGAATACATCTTAATAAATCAAAATATGCTCTTGAGATAGTCAAGAAAAAAGCGAAG... | pathogenic | 224,601 |
Does the genetic variant at chromosome 14, position 87982234, impacting gene GALC (galactosylceramidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GCCTGGCCAAGATGGTGAATCCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTAAATCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCATTGCACTCCAGCCTGGGTGACAGAGAGAGACTCTGTCAAAAAAAAAAAAAAAGCCATTATTCCAGTGAATACATTAGCTTACTGATGGGGGTCAGTGCCCCCACTCTTCCTCCATTGTCTAATCCATCTTTCATGACTTGTTTTTCCCCCATATCCCTTTACC... | GCCTGGCCAAGATGGTGAATCCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTAAATCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCATTGCACTCCAGCCTGGGTGACAGAGAGAGACTCTGTCAAAAAAAAAAAAAAAGCCATTATTCCAGTGAATACATTAGCTTACTGATGGGGGTCAGTGCCCCCACTCTTCCTCCATTGTCTAATCCATCTTTCATGACTTGTTTTTCCCCCATATCCCTTTACC... | pathogenic | 224,620 |
Considering the variant on chromosome 14, location 87984454, involving gene GALC (galactosylceramidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GATAGCACAACTTTTTAAAAATTAAAATATTATTTTTAAAAACCTTAAAATATTTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGA... | GATAGCACAACTTTTTAAAAATTAAAATATTATTTTTAAAAACCTTAAAATATTTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGA... | pathogenic | 224,629 |
Assess the variant on chromosome 14, position 87984458, impacting GALC (galactosylceramidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GCACAACTTTTTAAAAATTAAAATATTATTTTTAAAAACCTTAAAATATTTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGAT... | GCACAACTTTTTAAAAATTAAAATATTATTTTTAAAAACCTTAAAATATTTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGAT... | pathogenic | 224,630 |
Does the genetic variant at chromosome 14, position 87984507, impacting gene GALC (galactosylceramidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | TTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGATGGATAAAAGGAACATATATACATCTATTAGGTTTAGAGTCATGAAGCAT... | TTAGTGGGTATTTTTCAAAAAGTAATTTATTCCAAAGATTTTCAACAATGGAATATTCATTAATTCATTCAACACATACTGACAGTACAATGTGTGCCAGAAACTATACTAGGCATTGGAGAACTAATAGACAGGGAAACTGTTACAACAATTATGACAAGATCCCTGAAAGCCAAGTATTAATATGTATACTGTATAGAAGGCATATTTTTAAGCATACACAGAGAATCACAGTAATACACTAGTCACAAAAGCAACTCTGAATGAGGATGGATAAAAGGAACATATATACATCTATTAGGTTTAGAGTCATGAAGCAT... | pathogenic | 224,632 |
Chromosome 14, position 87986497, gene GALC (galactosylceramidase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ACGACATAATAGGCAGTCAGCTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCC... | ACGACATAATAGGCAGTCAGCTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCC... | pathogenic | 224,637 |
Gene GALC (galactosylceramidase) variant at chromosome 14, position 87986500—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | ACATAATAGGCAGTCAGCTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCCAAG... | ACATAATAGGCAGTCAGCTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCCAAG... | pathogenic | 224,638 |
Variant in GALC (galactosylceramidase), chromosome 14, position 87986517—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | CTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCCAAGAAGAAGAAAAATAACAA... | CTGAAGATTGACATAAGGCCAGTCGAAACCTTTTCCCAGCCATCCAGGGAATGACCATGGCAACCCTGCAGAGAGAAGGGAGGAGGCAAAGGTAGAGGAGGTATAACGGTGCTGGCGCTATTGAAAATAAAACAAATTTTTTTTAAGAAAAGCATTCAACTAGCAAAAAACCAATACAGATCTGACTAAAGGAAAGTTTATATACCATATAAAAATTATTGAAATCCTTTCCAATCTATAGACACTATAATTCCTTATTGATCCCTAGAGTCAGGTCCCATAATTTCAAATGTTCTTTCCAAGAAGAAGAAAAATAACAA... | pathogenic | 224,639 |
Regarding the variant at chromosome 14 and position 87988178, affecting gene GALC (galactosylceramidase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GTGAAGGAAAGTAGTTTAGCATCATAGGAAACATGGAATTAGGTGCTAACACCGATTTTGCCATTTACTAACTGTCTATGACCTTAGGTCAGTGGCATAATCTTCCTAAGCTTCTACTGCTTCTTCCTGGAAAATGGAAAGAGTCATGCCTTACTCCACAGGTATTATAAGGATTCAACATAATATACAAGGGCAAAGAAAGGATCACCCCTGGCACATGCTTTGCTGCTGGTAGCATACTGGTAGCATTAATGACATTATGAGTACTTCCGTATTAATAGAGATTCCACCAACACGATTCAGAATTTAAAAGTTAAAGG... | GTGAAGGAAAGTAGTTTAGCATCATAGGAAACATGGAATTAGGTGCTAACACCGATTTTGCCATTTACTAACTGTCTATGACCTTAGGTCAGTGGCATAATCTTCCTAAGCTTCTACTGCTTCTTCCTGGAAAATGGAAAGAGTCATGCCTTACTCCACAGGTATTATAAGGATTCAACATAATATACAAGGGCAAAGAAAGGATCACCCCTGGCACATGCTTTGCTGCTGGTAGCATACTGGTAGCATTAATGACATTATGAGTACTTCCGTATTAATAGAGATTCCACCAACACGATTCAGAATTTAAAAGTTAAAGG... | pathogenic | 224,656 |
Is the variant located on chromosome 14 at position 87988474, gene GALC (galactosylceramidase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Galactosylceramide_beta-galactosidase_deficiency'] | GATTCAGAATTTAAAAGTTAAAGGAAAAGAGACTGAAGAAACATTGCAAACTTCATTTCTTACCAATGAGTGTAATATTGGGATTCCTCTTCTTAGCTTCTTTCATCAACCACCACTCGTATCCTCGGAAATAATTCTCATCTAGTGCATAATGCATGTGGGAGGGCTCAGTGCCGTCTGAATAGAGGAGAGCAAAAACGGAAGTAATGATCCATGAATGGTACTTCCTAGGACCATCTCACTCCCCACCCCCACCCCAGACACACACTTCACAAAAGCAGTATTCCAGTTCTAATCCTGAAGTTGGGGAAATCATAATC... | GATTCAGAATTTAAAAGTTAAAGGAAAAGAGACTGAAGAAACATTGCAAACTTCATTTCTTACCAATGAGTGTAATATTGGGATTCCTCTTCTTAGCTTCTTTCATCAACCACCACTCGTATCCTCGGAAATAATTCTCATCTAGTGCATAATGCATGTGGGAGGGCTCAGTGCCGTCTGAATAGAGGAGAGCAAAAACGGAAGTAATGATCCATGAATGGTACTTCCTAGGACCATCTCACTCCCCACCCCCACCCCAGACACACACTTCACAAAAGCAGTATTCCAGTTCTAATCCTGAAGTTGGGGAAATCATAATC... | pathogenic | 224,659 |
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