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 |
|---|---|---|---|---|---|
Gene mutation in ARID1B (AT-rich interaction domain 1B) at chromosome 6, position 157206682—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | CTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAAT... | CTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAAT... | pathogenic | 114,477 |
Variant in ARID1B (AT-rich interaction domain 1B), chromosome 6, position 157206682—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ARID1B-related_disorder'] | CTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAAT... | CTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAAT... | pathogenic | 114,478 |
Is the chromosome 6, position 157206703 variant in ARID1B (AT-rich interaction domain 1B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Coffin-Siris_syndrome_1', 'Inborn_genetic_diseases'] | CCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAA... | CCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAA... | pathogenic | 114,480 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 157206732, gene ARID1B (AT-rich interaction domain 1B): what disease(s) if pathogenic? | pathogenic; ['Coffin-Siris_syndrome_1'] | TAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTT... | TAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTT... | pathogenic | 114,483 |
Clinically, how would you classify the variant at chromosome 6, position 157206796, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Coffin-Siris_syndrome_1'] | TGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTTAACAGAAAATAAGTATTTAAAAACTGTATACTGCATTTGCTAGAGTAATGCGCTTTCATCCTTA... | TGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTTAACAGAAAATAAGTATTTAAAAACTGTATACTGCATTTGCTAGAGTAATGCGCTTTCATCCTTA... | pathogenic | 114,486 |
The genetic variant at chromosome 6, position 157206843, affecting gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Coffin-Siris_syndrome_1'] | AGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTTAACAGAAAATAAGTATTTAAAAACTGTATACTGCATTTGCTAGAGTAATGCGCTTTCATCCTTATGTTAGGTGAACTGTTGTTGATCACATATTTGCATAACCAGAATTGC... | AGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAATAAGACCAGAATCTTCTACTTCTTTCTTCTCTCATTTAAGCCCTCATTATCAGCCTAGAAAGGCAATTTTTCAATTGCTAGAAAGTTTATTAATAAGGTCATAAACATTGTACGAGTTCTGTGTTAACAGAAAATAAGTATTTAAAAACTGTATACTGCATTTGCTAGAGTAATGCGCTTTCATCCTTATGTTAGGTGAACTGTTGTTGATCACATATTTGCATAACCAGAATTGC... | pathogenic | 114,489 |
Mutation at chromosome 6, position 157207104, within ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | CTTTCATCCTTATGTTAGGTGAACTGTTGTTGATCACATATTTGCATAACCAGAATTGCTTTATTAACTTTCCCTTTTCCCCTGGAAAAAAAAGGGAAAATGCCCTTGGAACATTGTGCCTTCAGCACACTAAAAGCAGTTCTTTCTAGTTGGTGCTGGGGGCTTCCCCTGACTTCTTAAAAATTGTTCCAACTCTACTTTCAAGAAACTGACAGTAGGATATGAAGGTATAGCTGATTTCCAGAACATCTACCGGGAAAGAATCCTTGTTAGAATCCTTGTTACTTACTCTTTAGAGTTCCTAAACATGGTGGGGGGTG... | CTTTCATCCTTATGTTAGGTGAACTGTTGTTGATCACATATTTGCATAACCAGAATTGCTTTATTAACTTTCCCTTTTCCCCTGGAAAAAAAAGGGAAAATGCCCTTGGAACATTGTGCCTTCAGCACACTAAAAGCAGTTCTTTCTAGTTGGTGCTGGGGGCTTCCCCTGACTTCTTAAAAATTGTTCCAACTCTACTTTCAAGAAACTGACAGTAGGATATGAAGGTATAGCTGATTTCCAGAACATCTACCGGGAAAGAATCCTTGTTAGAATCCTTGTTACTTACTCTTTAGAGTTCCTAAACATGGTGGGGGGTG... | pathogenic | 114,503 |
Variant in ARID1B (AT-rich interaction domain 1B), chromosome 6, position 157207147—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Coffin-Siris_syndrome_1'] | GCATAACCAGAATTGCTTTATTAACTTTCCCTTTTCCCCTGGAAAAAAAAGGGAAAATGCCCTTGGAACATTGTGCCTTCAGCACACTAAAAGCAGTTCTTTCTAGTTGGTGCTGGGGGCTTCCCCTGACTTCTTAAAAATTGTTCCAACTCTACTTTCAAGAAACTGACAGTAGGATATGAAGGTATAGCTGATTTCCAGAACATCTACCGGGAAAGAATCCTTGTTAGAATCCTTGTTACTTACTCTTTAGAGTTCCTAAACATGGTGGGGGGTGTTGGGAGAGAGGGCAGTTGCTAATCGTGAAGTGTATTGGTTTT... | GCATAACCAGAATTGCTTTATTAACTTTCCCTTTTCCCCTGGAAAAAAAAGGGAAAATGCCCTTGGAACATTGTGCCTTCAGCACACTAAAAGCAGTTCTTTCTAGTTGGTGCTGGGGGCTTCCCCTGACTTCTTAAAAATTGTTCCAACTCTACTTTCAAGAAACTGACAGTAGGATATGAAGGTATAGCTGATTTCCAGAACATCTACCGGGAAAGAATCCTTGTTAGAATCCTTGTTACTTACTCTTTAGAGTTCCTAAACATGGTGGGGGGTGTTGGGAGAGAGGGCAGTTGCTAATCGTGAAGTGTATTGGTTTT... | pathogenic | 114,507 |
Variant at chromosome 6, position 157207700, gene ARID1B (AT-rich interaction domain 1B): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Coffin-Siris_syndrome_1'] | ATTAGGGTGACCTATGGTACCTGAGACAAAAATAACCATAAAATCCTAAGAATAACAACCATAAAAATCCCGGCAAGCAAGTCTCAGATAAATAATAGAAGAGAACAGAGTCACTTTGGGCAAAAGAGTCTATAAAATCCATGTTCCCACTCTTCTAATAATGAGTACATTGTCTCTAAATCAGGAACAGAAAGGTAAAGAACAGCAAGGCACTCCCTCAGTGATAAGATTAGAGATATGAGAATAAAAAGTAAGTTTTCGTGTAGATAGTCTAAGCAAGGAAGCAGCAAATAAGGAACATGCTAAACATCGGTTTAGTT... | ATTAGGGTGACCTATGGTACCTGAGACAAAAATAACCATAAAATCCTAAGAATAACAACCATAAAAATCCCGGCAAGCAAGTCTCAGATAAATAATAGAAGAGAACAGAGTCACTTTGGGCAAAAGAGTCTATAAAATCCATGTTCCCACTCTTCTAATAATGAGTACATTGTCTCTAAATCAGGAACAGAAAGGTAAAGAACAGCAAGGCACTCCCTCAGTGATAAGATTAGAGATATGAGAATAAAAAGTAAGTTTTCGTGTAGATAGTCTAAGCAAGGAAGCAGCAAATAAGGAACATGCTAAACATCGGTTTAGTT... | pathogenic | 114,524 |
Is chromosome 6, position 157207836, gene ARID1B (AT-rich interaction domain 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Coffin-Siris_syndrome_1'] | ATCCATGTTCCCACTCTTCTAATAATGAGTACATTGTCTCTAAATCAGGAACAGAAAGGTAAAGAACAGCAAGGCACTCCCTCAGTGATAAGATTAGAGATATGAGAATAAAAAGTAAGTTTTCGTGTAGATAGTCTAAGCAAGGAAGCAGCAAATAAGGAACATGCTAAACATCGGTTTAGTTTATACTGTAAAATTCAGGAAGTTCGCTGGACCTGAAGGGTAGTTTATCTTTCATGGTCCAGCCAAAAAGGGAGACAAACGTGTGACAATGATGGAAAGGTATTGACGGGTCTCAGGATCTTTACCCTCCTCGGTCA... | ATCCATGTTCCCACTCTTCTAATAATGAGTACATTGTCTCTAAATCAGGAACAGAAAGGTAAAGAACAGCAAGGCACTCCCTCAGTGATAAGATTAGAGATATGAGAATAAAAAGTAAGTTTTCGTGTAGATAGTCTAAGCAAGGAAGCAGCAAATAAGGAACATGCTAAACATCGGTTTAGTTTATACTGTAAAATTCAGGAAGTTCGCTGGACCTGAAGGGTAGTTTATCTTTCATGGTCCAGCCAAAAAGGGAGACAAACGTGTGACAATGATGGAAAGGTATTGACGGGTCTCAGGATCTTTACCCTCCTCGGTCA... | pathogenic | 114,528 |
Gene mutation in SERAC1 (serine active site containing 1) at chromosome 6, position 158113439—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome', 'SERAC1-related_disorder'] | GCTTCACGAATGAATTGTAAAGTACGCTGGTACAAAAAAGCATCCTTTTTCTTTGGCTTACAAATGTTCAAATGGTTAACATCCACAGGAATTAGATCTCCAATGCCTAAATCTGAAGAAAATAAAAAAGTCAATAAACCTAAGTAAAAATATAAGCTTTCCCCTTGACAATACTGAAAGAGGCCGAATGGGTAGTTCTAGACATTGCTTTGGTTGTGACAAGGGACTCTTAAAAGATAAAGGAACCTGAAGTTTGATTGCAGCTAAACTACATTTGATGAAACATGCAGGAAGGGATTCTCAGTCAGTAGAACCATAGT... | GCTTCACGAATGAATTGTAAAGTACGCTGGTACAAAAAAGCATCCTTTTTCTTTGGCTTACAAATGTTCAAATGGTTAACATCCACAGGAATTAGATCTCCAATGCCTAAATCTGAAGAAAATAAAAAAGTCAATAAACCTAAGTAAAAATATAAGCTTTCCCCTTGACAATACTGAAAGAGGCCGAATGGGTAGTTCTAGACATTGCTTTGGTTGTGACAAGGGACTCTTAAAAGATAAAGGAACCTGAAGTTTGATTGCAGCTAAACTACATTTGATGAAACATGCAGGAAGGGATTCTCAGTCAGTAGAACCATAGT... | pathogenic | 114,534 |
Chromosome 6, position 158114988, gene SERAC1 (serine active site containing 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGAGCAAGCACTGGCCATTTCCCTCAACCCCAGGATCATGAAGAGATTGTAGTTCAACACTAGTTTTTCCCACTGGAATATTTCTGGAGCTTTACTATTCCCCATGGATCTTCTATTTACGAAAGCTTCCACACTTTTAGATGATTTTCTTAAGGGTTCTGCATGTAAATATAAGTCTAAGTCTATTAAATAAATGCCCCTTTTGATCTAGCTGATAGAAGAGCTTTCTTTACTGCAAAAGAGTTCACTGTTGATGCCTAACTTAGAGTTAGCCAATTAACCCTTCTCATCTAATCAGTTACATAAAGGGCAGGGAGAG... | GAGAGCAAGCACTGGCCATTTCCCTCAACCCCAGGATCATGAAGAGATTGTAGTTCAACACTAGTTTTTCCCACTGGAATATTTCTGGAGCTTTACTATTCCCCATGGATCTTCTATTTACGAAAGCTTCCACACTTTTAGATGATTTTCTTAAGGGTTCTGCATGTAAATATAAGTCTAAGTCTATTAAATAAATGCCCCTTTTGATCTAGCTGATAGAAGAGCTTTCTTTACTGCAAAAGAGTTCACTGTTGATGCCTAACTTAGAGTTAGCCAATTAACCCTTCTCATCTAATCAGTTACATAAAGGGCAGGGAGAG... | benign | 114,538 |
Clinical significance of chromosome 6, position 158117779, gene SERAC1 (serine active site containing 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome'] | TCAGCAGCTCTGGGCCTGGTGTGAGCAGGCACCCAGAGTCTGGGACTGTGGGCACTAAAGCGACCATAGACTGCAATGGTGAGGGGGAGCAGGAAGAATAAAGGGGCACCCCTGGGGCCACCCAAGAATGCTGAGGCATGTTGACGAGGTGGGTGTATATGAAACGGGCTGCTTCTCATGTTTATTCATTACCGCTATGTGAAAGCACTACGCTGTCAAACCCATATCCCTCTTAGATGATTTGTAACAGGTTGCCCTTTTCTAGAGAAAGGAACAGCATGGAACAAGAGTAGTAATTTTAAAAGTCCTAGCCATAGCTA... | TCAGCAGCTCTGGGCCTGGTGTGAGCAGGCACCCAGAGTCTGGGACTGTGGGCACTAAAGCGACCATAGACTGCAATGGTGAGGGGGAGCAGGAAGAATAAAGGGGCACCCCTGGGGCCACCCAAGAATGCTGAGGCATGTTGACGAGGTGGGTGTATATGAAACGGGCTGCTTCTCATGTTTATTCATTACCGCTATGTGAAAGCACTACGCTGTCAAACCCATATCCCTCTTAGATGATTTGTAACAGGTTGCCCTTTTCTAGAGAAAGGAACAGCATGGAACAAGAGTAGTAATTTTAAAAGTCCTAGCCATAGCTA... | pathogenic | 114,546 |
Evaluate the clinical significance of the mutation at chromosome 6, position 158117837 in gene SERAC1 (serine active site containing 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGCGACCATAGACTGCAATGGTGAGGGGGAGCAGGAAGAATAAAGGGGCACCCCTGGGGCCACCCAAGAATGCTGAGGCATGTTGACGAGGTGGGTGTATATGAAACGGGCTGCTTCTCATGTTTATTCATTACCGCTATGTGAAAGCACTACGCTGTCAAACCCATATCCCTCTTAGATGATTTGTAACAGGTTGCCCTTTTCTAGAGAAAGGAACAGCATGGAACAAGAGTAGTAATTTTAAAAGTCCTAGCCATAGCTACACAGATTAATTTAGCAGGGGGGGTAAGGGAGCCGCTATTAAGTAAAATGGAAAGATA... | AGCGACCATAGACTGCAATGGTGAGGGGGAGCAGGAAGAATAAAGGGGCACCCCTGGGGCCACCCAAGAATGCTGAGGCATGTTGACGAGGTGGGTGTATATGAAACGGGCTGCTTCTCATGTTTATTCATTACCGCTATGTGAAAGCACTACGCTGTCAAACCCATATCCCTCTTAGATGATTTGTAACAGGTTGCCCTTTTCTAGAGAAAGGAACAGCATGGAACAAGAGTAGTAATTTTAAAAGTCCTAGCCATAGCTACACAGATTAATTTAGCAGGGGGGGTAAGGGAGCCGCTATTAAGTAAAATGGAAAGATA... | benign | 114,548 |
Evaluate the clinical significance of the mutation at chromosome 6, position 158119166 in gene SERAC1 (serine active site containing 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome'] | GACACCCTTCTTGGGCACCTACGGGAGGTTCATTCAGAAAGCAGTTTGATAACACTGATTTAGACCAACTCTGTCAATCTGTAGACAAAGCTTCCCGGAAAAGTTAACTGACTGGTCTAAGACTGCACAGCAAATCAAAGGTAGGATCCGGCTACTCTCAGTCCAGTAACTCTGAAATCCAGCACTCCTTCCCATGTATACAACTGGCACAGATGACATACAAGGGAAATAGCAGCTGATATTTCTCAGCATCTTTCTCTTTGCTTCCTTTAGCCAGTATGATTGTGGACACAAGAACAAAAAAACATCACTTTTACTTC... | GACACCCTTCTTGGGCACCTACGGGAGGTTCATTCAGAAAGCAGTTTGATAACACTGATTTAGACCAACTCTGTCAATCTGTAGACAAAGCTTCCCGGAAAAGTTAACTGACTGGTCTAAGACTGCACAGCAAATCAAAGGTAGGATCCGGCTACTCTCAGTCCAGTAACTCTGAAATCCAGCACTCCTTCCCATGTATACAACTGGCACAGATGACATACAAGGGAAATAGCAGCTGATATTTCTCAGCATCTTTCTCTTTGCTTCCTTTAGCCAGTATGATTGTGGACACAAGAACAAAAAAACATCACTTTTACTTC... | pathogenic | 114,552 |
Variant in SERAC1 (serine active site containing 1), chromosome 6, position 158120591—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGGAGGTTGAGACTGCAGTGCGCTAGGATCGCACCACTGCACTCCAGTCTGGGTGACAAAATGAGACCCTCATCTCAAAAAAAAAAAAAAAAAAGAAGGAAAGAAATGCAAAGTATAATTACTTCTTCAAAGACTTTCTATTTTTGTAATTATTAAGGTCATAGAATTAGGTAACTATTATAAATGTAAGTATTGTTATGTTATTTTTGTATTATATTACAACAAAAGTGAACTATTACTGGCTCTTGCCCCTATTTTTTACTTAATAGAATATTTTTTGAGTCATACACTGCACCCCAAATGGAAATTATACAACATAG... | GGGAGGTTGAGACTGCAGTGCGCTAGGATCGCACCACTGCACTCCAGTCTGGGTGACAAAATGAGACCCTCATCTCAAAAAAAAAAAAAAAAAAGAAGGAAAGAAATGCAAAGTATAATTACTTCTTCAAAGACTTTCTATTTTTGTAATTATTAAGGTCATAGAATTAGGTAACTATTATAAATGTAAGTATTGTTATGTTATTTTTGTATTATATTACAACAAAAGTGAACTATTACTGGCTCTTGCCCCTATTTTTTACTTAATAGAATATTTTTTGAGTCATACACTGCACCCCAAATGGAAATTATACAACATAG... | benign | 114,561 |
A genetic alteration at chromosome 6, position 158146830, in gene SERAC1 (serine active site containing 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome'] | CCTACTGCTCCGTGGTGATGATATGGTGCTTTGGTATTCATAGTGTCCATGAATATTTAGTCTGCAGTTCCAGATAGCAGTACTTTGAATTAAACATGCCATTCTTTATATATCAAAAACAAAATTCCAACCATGAAAGCAAACATTATTTTCAATAATGGCAGTTTATAACCTGGGGTTGGCCAGTCGCCATGGTTCAGGCCTGTAATACCAGCACTTTGGGAAGCCGAGGCGGGCGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | CCTACTGCTCCGTGGTGATGATATGGTGCTTTGGTATTCATAGTGTCCATGAATATTTAGTCTGCAGTTCCAGATAGCAGTACTTTGAATTAAACATGCCATTCTTTATATATCAAAAACAAAATTCCAACCATGAAAGCAAACATTATTTTCAATAATGGCAGTTTATAACCTGGGGTTGGCCAGTCGCCATGGTTCAGGCCTGTAATACCAGCACTTTGGGAAGCCGAGGCGGGCGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | pathogenic | 114,569 |
Determine if the mutation at chromosome 6, position 158148992 in gene SERAC1 (serine active site containing 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GAAAAGTTAAGATAATACTTTTATCTTCACTTTAAGATGGTAATTTATAAACACTGAAATCTACAATTGGAGAGTTAAATCCATATATATAGGTATTGATAAAAACTAATATTATTTGTTCTCAATTCTGTCATATTATCTTTTACAGTTATTATGAATACTGTGTGTGCTTTTTTTTGGATGGGGGGGCAGGGGTCAGTTTTGTTTTGTTTTTTGAGACAGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGACACAATCGTGGCTCACTGCAGCTTCGACCTCTTGGGCTCAAACAATCCTCCCACCTCAGCCTCCT... | GAAAAGTTAAGATAATACTTTTATCTTCACTTTAAGATGGTAATTTATAAACACTGAAATCTACAATTGGAGAGTTAAATCCATATATATAGGTATTGATAAAAACTAATATTATTTGTTCTCAATTCTGTCATATTATCTTTTACAGTTATTATGAATACTGTGTGTGCTTTTTTTTGGATGGGGGGGCAGGGGTCAGTTTTGTTTTGTTTTTTGAGACAGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGACACAATCGTGGCTCACTGCAGCTTCGACCTCTTGGGCTCAAACAATCCTCCCACCTCAGCCTCCT... | benign | 114,572 |
Considering the genetic mutation at chromosome 6, position 158150452, impacting SERAC1 (serine active site containing 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome'] | GCCCTTAAAATTAAATACAGTCCAAGAGAATAATGTTAATTACTTTGCTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGTCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTACAAGCG... | GCCCTTAAAATTAAATACAGTCCAAGAGAATAATGTTAATTACTTTGCTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGTCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTACAAGCG... | pathogenic | 114,573 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 158150489, gene SERAC1 (serine active site containing 1): what disease(s) if pathogenic? | pathogenic; ['3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome'] | AATTACTTTGCTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGTCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTACAAGCGTGAGCCACCATACCTGGCCTGATTAATTTTCCATAGC... | AATTACTTTGCTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGTCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTTGGATTACAAGCGTGAGCCACCATACCTGGCCTGATTAATTTTCCATAGC... | pathogenic | 114,575 |
The chromosome 6, position 160718851 genetic variant in gene PLG (plasminogen): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GCCCTGTTCTTGAAATCAAAAGAAAACATGTGTCAGTGCCTGAGTGCAGCCTCTGAAAAGTGACCTACAAGTCCTATGGGATGTTATTGGTCTTTATTTTATTGCTGGTTTAAAACAGTTATGGTTATTGGTTACTGTGGGTGATTGATCAGAGCGTCCATTTATCATGTTTTTCTTTCTTTGCAACTGAAACTTCTGCCTCAGGAGTTCACTGAAATGTAGGCTTTAGGTGTTGTTCATCCTATTCTCTCTGTGCTAAAGGGAAATCAGACCCATGCTCTCTGACACATGGATTTCATTTTCAACCAGAGTTCTAATAG... | GCCCTGTTCTTGAAATCAAAAGAAAACATGTGTCAGTGCCTGAGTGCAGCCTCTGAAAAGTGACCTACAAGTCCTATGGGATGTTATTGGTCTTTATTTTATTGCTGGTTTAAAACAGTTATGGTTATTGGTTACTGTGGGTGATTGATCAGAGCGTCCATTTATCATGTTTTTCTTTCTTTGCAACTGAAACTTCTGCCTCAGGAGTTCACTGAAATGTAGGCTTTAGGTGTTGTTCATCCTATTCTCTCTGTGCTAAAGGGAAATCAGACCCATGCTCTCTGACACATGGATTTCATTTTCAACCAGAGTTCTAATAG... | benign | 114,643 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 161548852, gene PRKN (parkin RBR E3 ubiquitin protein ligase): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2'] | TTTGGACAACTTGCTCTGGGGAAAGCCAGCTGCCATCATGGGGACAAACAGCCTAAGACAAGGGCCATGTGGTGAGGAACTGTGGCCTTCTGACAACAGCCAGTGAGGAACTGAGGACTTTTTTTGCCAACAGTCATGTGAATGAGCTACCTTGGAAGTAGATCTTCCAGCCCCAGTTAAGCCTCCAGATAACTGTGACCCTGCTAAACTGCAAACTCAGGAGGAACCCTGAGCCAGAACTACCCAGCAAAGCCACTCACGGGTGATTCCTGACTCTCAGAAACTGTGAGATGATACATTTCTATCATGTTAAATTGTTA... | TTTGGACAACTTGCTCTGGGGAAAGCCAGCTGCCATCATGGGGACAAACAGCCTAAGACAAGGGCCATGTGGTGAGGAACTGTGGCCTTCTGACAACAGCCAGTGAGGAACTGAGGACTTTTTTTGCCAACAGTCATGTGAATGAGCTACCTTGGAAGTAGATCTTCCAGCCCCAGTTAAGCCTCCAGATAACTGTGACCCTGCTAAACTGCAAACTCAGGAGGAACCCTGAGCCAGAACTACCCAGCAAAGCCACTCACGGGTGATTCCTGACTCTCAGAAACTGTGAGATGATACATTTCTATCATGTTAAATTGTTA... | pathogenic | 114,677 |
Variant at chromosome position 161548944, chromosome 6, gene PRKN (parkin RBR E3 ubiquitin protein ligase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2', 'Lung_cancer', 'Ovarian_cancer'] | ACAACAGCCAGTGAGGAACTGAGGACTTTTTTTGCCAACAGTCATGTGAATGAGCTACCTTGGAAGTAGATCTTCCAGCCCCAGTTAAGCCTCCAGATAACTGTGACCCTGCTAAACTGCAAACTCAGGAGGAACCCTGAGCCAGAACTACCCAGCAAAGCCACTCACGGGTGATTCCTGACTCTCAGAAACTGTGAGATGATACATTTCTATCATGTTAAATTGTTAGAATTTGGAGTTGCTATGCAGTCATAGATAACTAATACACAAACCAACAAACACACCTCCAAAACCAACAAATCGAAACAAATTAAGATAAA... | ACAACAGCCAGTGAGGAACTGAGGACTTTTTTTGCCAACAGTCATGTGAATGAGCTACCTTGGAAGTAGATCTTCCAGCCCCAGTTAAGCCTCCAGATAACTGTGACCCTGCTAAACTGCAAACTCAGGAGGAACCCTGAGCCAGAACTACCCAGCAAAGCCACTCACGGGTGATTCCTGACTCTCAGAAACTGTGAGATGATACATTTCTATCATGTTAAATTGTTAGAATTTGGAGTTGCTATGCAGTCATAGATAACTAATACACAAACCAACAAACACACCTCCAAAACCAACAAATCGAAACAAATTAAGATAAA... | pathogenic | 114,679 |
Chromosome 6, position 162054107, gene PRKN (parkin RBR E3 ubiquitin protein ligase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lung_adenocarcinoma'] | GGTGGTATGGCCGTAGACAGGAATGACTGTATTATCAAACTCTATCCTCCATGTTTTTTAAGTTCTCTTTTATTTTTTAAATCTATTATGTTCTGGCTGCATTTAGGATAATTTTTTTCAGGTCAAATTTCAGATCTAAGTTCTATTTTCTCTTTTTACCTATGTCTTATCTGCTGTTCAGCCCATTTAGTAAACTTTGTGTCAATTATTATAATTTATATATAATTCTAGAATTTCAGGTGTGTGTGTGCTTGTTTAATTTGACTGGATATTTCCAATCGTTTTGTTTTGTTTTTTTAATCTTTTATTTTTTAAACATA... | GGTGGTATGGCCGTAGACAGGAATGACTGTATTATCAAACTCTATCCTCCATGTTTTTTAAGTTCTCTTTTATTTTTTAAATCTATTATGTTCTGGCTGCATTTAGGATAATTTTTTTCAGGTCAAATTTCAGATCTAAGTTCTATTTTCTCTTTTTACCTATGTCTTATCTGCTGTTCAGCCCATTTAGTAAACTTTGTGTCAATTATTATAATTTATATATAATTCTAGAATTTCAGGTGTGTGTGTGCTTGTTTAATTTGACTGGATATTTCCAATCGTTTTGTTTTGTTTTTTTAATCTTTTATTTTTTAAACATA... | pathogenic | 114,703 |
Is the genetic mutation found on chromosome 6 at position 162262560, within the gene PRKN (parkin RBR E3 ubiquitin protein ligase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2', 'Lung_cancer', 'Ovarian_cancer'] | TCTTAAAATATTATGGTCTAGAGAGAGAGAGAGAGTCAGTTGAAAGTGTCAATAATTCTAAGTTCATTCTCATAAAAGAAAATTCTGGAGAAGACCAAGGGCAATTTTATGATAAAACAAAATAAGAAGACTAAAATTTTCAGATGAATATGGTTGATAAGAGAGTAGAGCCAGATGCACTAGGAAATGTATTAAAGAACATGAATATGTACACAACAGGATTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTT... | TCTTAAAATATTATGGTCTAGAGAGAGAGAGAGAGTCAGTTGAAAGTGTCAATAATTCTAAGTTCATTCTCATAAAAGAAAATTCTGGAGAAGACCAAGGGCAATTTTATGATAAAACAAAATAAGAAGACTAAAATTTTCAGATGAATATGGTTGATAAGAGAGTAGAGCCAGATGCACTAGGAAATGTATTAAAGAACATGAATATGTACACAACAGGATTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTT... | pathogenic | 114,709 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 162262715, gene PRKN (parkin RBR E3 ubiquitin protein ligase): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2', 'Lung_cancer', 'Ovarian_cancer'] | GATAAGAGAGTAGAGCCAGATGCACTAGGAAATGTATTAAAGAACATGAATATGTACACAACAGGATTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTT... | GATAAGAGAGTAGAGCCAGATGCACTAGGAAATGTATTAAAGAACATGAATATGTACACAACAGGATTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTT... | pathogenic | 114,714 |
Variant at chromosome 6, position 162262781, gene PRKN (parkin RBR E3 ubiquitin protein ligase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCT... | TTCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCT... | benign | 114,716 |
Clinical classification of chromosome 6, position 162262782, gene PRKN (parkin RBR E3 ubiquitin protein ligase): benign or pathogenic? Disease(s) if pathogenic? | benign | TCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCTA... | TCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCTA... | benign | 114,717 |
For chromosome 6, position 162262782, gene PRKN (parkin RBR E3 ubiquitin protein ligase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCTA... | TCTTGTGCTCAAATTGTTTTTAATATTCAGATAATAAGTAAAGGTTTAATTTTGCTCTAAACAATGTGATTTTTTTATTTTTAGTAAGAATTTTATTTTGGGAAATCAAATTAAAGAACTAGTAGATAGGTCTCCTAACATAATAAATCCAATCTGTTATACAGTTGTACAGGAACAAACATAGTAAATATAGGGTTTGGTACCATTTTTGGTTTCAGGCGTACACTGGGGGATTTGAAACGTATTGCCTGTTGATGGGGAGGGACAACTGTACATGTGAGACACCCAGAAAAAATGCATAAATCTCAAAGAGGTGCCTA... | benign | 114,718 |
Gene mutation in PRKN (parkin RBR E3 ubiquitin protein ligase) at chromosome 6, position 162443325—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2', 'Lung_cancer', 'Ovarian_cancer'] | AGTTAGTCAAGGTTATGTGAAATATAGCCCATATTTTATTTTTTGTCCAATCTTCAACATCTCTCTTCAGGTTCTAGAAGAACAAGAACCCATCCTTTTTGGCAAGCATTCTCTATGCTCATTCCCCTATTCCTCCATCTACAGAATCCTACCTCAACTCAATTCATCCAAGAAGTTCTTCCTGGTGACTTCCAACCAGATGTGTTTTCTCCACCTTTAAAACTTCATAATATTTTCAGGTGCGATACGGCAGTTATGTTTCATATTCTTATATTATAGCTATTAGGTTGAACAACATGAAATTGTTGAACCTGTAAAAA... | AGTTAGTCAAGGTTATGTGAAATATAGCCCATATTTTATTTTTTGTCCAATCTTCAACATCTCTCTTCAGGTTCTAGAAGAACAAGAACCCATCCTTTTTGGCAAGCATTCTCTATGCTCATTCCCCTATTCCTCCATCTACAGAATCCTACCTCAACTCAATTCATCCAAGAAGTTCTTCCTGGTGACTTCCAACCAGATGTGTTTTCTCCACCTTTAAAACTTCATAATATTTTCAGGTGCGATACGGCAGTTATGTTTCATATTCTTATATTATAGCTATTAGGTTGAACAACATGAAATTGTTGAACCTGTAAAAA... | pathogenic | 114,722 |
Variant chromosome 6, position 162443378, gene PRKN (parkin RBR E3 ubiquitin protein ligase): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_juvenile_Parkinson_disease_2', 'Young-onset_Parkinson_disease'] | TCAACATCTCTCTTCAGGTTCTAGAAGAACAAGAACCCATCCTTTTTGGCAAGCATTCTCTATGCTCATTCCCCTATTCCTCCATCTACAGAATCCTACCTCAACTCAATTCATCCAAGAAGTTCTTCCTGGTGACTTCCAACCAGATGTGTTTTCTCCACCTTTAAAACTTCATAATATTTTCAGGTGCGATACGGCAGTTATGTTTCATATTCTTATATTATAGCTATTAGGTTGAACAACATGAAATTGTTGAACCTGTAAAAATGGCAATCCCATATGGTTCAATCTAATATTTCTCTCGGTTTTAGGGCTCATAA... | TCAACATCTCTCTTCAGGTTCTAGAAGAACAAGAACCCATCCTTTTTGGCAAGCATTCTCTATGCTCATTCCCCTATTCCTCCATCTACAGAATCCTACCTCAACTCAATTCATCCAAGAAGTTCTTCCTGGTGACTTCCAACCAGATGTGTTTTCTCCACCTTTAAAACTTCATAATATTTTCAGGTGCGATACGGCAGTTATGTTTCATATTCTTATATTATAGCTATTAGGTTGAACAACATGAAATTGTTGAACCTGTAAAAATGGCAATCCCATATGGTTCAATCTAATATTTCTCTCGGTTTTAGGGCTCATAA... | pathogenic | 114,725 |
Gene mutation in RNASET2 (ribonuclease T2) at chromosome 6, position 166946676—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGGACTACTCTGAGGAGCAGCGGCTCACACCACCACAGACCCACGACCCACCCACGCCCCCACTCAAAAAGCATTTCAGCTTTCCTGTCCTGGACCCCCCGGGGATATGCAGTCCTACGGTGCCTCTTCTCAAATCTCTCCACTCCTGGGTTTCCGCCTTTCCCAGCTGCAGGCACACATGCCCCTTTCCACCTGGCTGTTAACACGGGGCTCCACCAGCACTGTCCCCTCTGCCCACCAGGCCCACACCTGTCAGCGCTGTCCCCTTAGCCCACCCACATCCGTCAGCCCTGCCCCCTCACCCACCCACGTCCACACCT... | AGGACTACTCTGAGGAGCAGCGGCTCACACCACCACAGACCCACGACCCACCCACGCCCCCACTCAAAAAGCATTTCAGCTTTCCTGTCCTGGACCCCCCGGGGATATGCAGTCCTACGGTGCCTCTTCTCAAATCTCTCCACTCCTGGGTTTCCGCCTTTCCCAGCTGCAGGCACACATGCCCCTTTCCACCTGGCTGTTAACACGGGGCTCCACCAGCACTGTCCCCTCTGCCCACCAGGCCCACACCTGTCAGCGCTGTCCCCTTAGCCCACCCACATCCGTCAGCCCTGCCCCCTCACCCACCCACGTCCACACCT... | benign | 114,765 |
Chromosome 6, position 168608142, gene SMOC2 (SPARC related modular calcium binding 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAATAAGAGCTTCCTAATCCCTCAGGAAGCCAGCTTCCTGTACACATCATCTCTGGGTGAATGTTTTACTTCTCACCTGCTGGCCGCAGCAGCAGCTGCATTAGGAGACACCTGGCTGGGTAACAGGTCCTTTACTGAGTTCGCCTTTCTTGTGACCTCTTGGAGCTGACCCCCACCCCCACATTTTCAAAGAATATGAGTTAATGGCTTTCAGTTAGAATGTGATAGCTTAACTGTTTGCCAGAGTGTGTCAGAGACTTTAATTTCAAAAACAATATTTCAAAAAGATATATTAAGTTTGTCTGACTGGGGTGGCAGGT... | AAATAAGAGCTTCCTAATCCCTCAGGAAGCCAGCTTCCTGTACACATCATCTCTGGGTGAATGTTTTACTTCTCACCTGCTGGCCGCAGCAGCAGCTGCATTAGGAGACACCTGGCTGGGTAACAGGTCCTTTACTGAGTTCGCCTTTCTTGTGACCTCTTGGAGCTGACCCCCACCCCCACATTTTCAAAGAATATGAGTTAATGGCTTTCAGTTAGAATGTGATAGCTTAACTGTTTGCCAGAGTGTGTCAGAGACTTTAATTTCAAAAACAATATTTCAAAAAGATATATTAAGTTTGTCTGACTGGGGTGGCAGGT... | benign | 114,776 |
A genetic variant on chromosome 6, position 170282881, affects the gene DLL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTGTATGGTCCGGCTTAATGCTTTTGCTTATGGGAAGTTTCAAACGTGTACGAAAGAGGAAAGAACACGGAAGTGAGCGCCCCCATGGGCCACTCCCAGCTGCAGCGACCCCCAGCAGTGCTCGTGGGACTCCCCGTGCCACCGTGCCCGCGGCGGGGGGCTCCGAATCAGTCCCAGGCCTCGTATTGTTTCATCCATAAATATTTCAGAATTTTCTCTAAAAGATAAGGTCTCTTTTTAAACTGAACAGTAATAACACATCACATCTAAACTATTTAGCAGGTGCACTTTAAAATCATGTGGATATCCCAGTCAGCGCT... | CTGTATGGTCCGGCTTAATGCTTTTGCTTATGGGAAGTTTCAAACGTGTACGAAAGAGGAAAGAACACGGAAGTGAGCGCCCCCATGGGCCACTCCCAGCTGCAGCGACCCCCAGCAGTGCTCGTGGGACTCCCCGTGCCACCGTGCCCGCGGCGGGGGGCTCCGAATCAGTCCCAGGCCTCGTATTGTTTCATCCATAAATATTTCAGAATTTTCTCTAAAAGATAAGGTCTCTTTTTAAACTGAACAGTAATAACACATCACATCTAAACTATTTAGCAGGTGCACTTTAAAATCATGTGGATATCCCAGTCAGCGCT... | benign | 114,824 |
Is chromosome 6, position 170283233, gene DLL1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures'] | AACTGTTTGAAACAGGAACCAGATCCAGACGCTGCGATGGATTGATATGTCCGTGTCTCTTTGTATCTATGGGTTCCCCCTCACCATTTTCTTGTTTTTTCCTTGCAATTTATTTGGCTACAGAGTTCCCTGGATTCGGCTGCGCAGATGCGTGGGGCGTCGAGGAAGGAGTTTTCAGTCCCGTGTTTCCGTAACTGGTAATGAGACTGAGAGCTGTCATCGGATTCAAGCTCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGC... | AACTGTTTGAAACAGGAACCAGATCCAGACGCTGCGATGGATTGATATGTCCGTGTCTCTTTGTATCTATGGGTTCCCCCTCACCATTTTCTTGTTTTTTCCTTGCAATTTATTTGGCTACAGAGTTCCCTGGATTCGGCTGCGCAGATGCGTGGGGCGTCGAGGAAGGAGTTTTCAGTCCCGTGTTTCCGTAACTGGTAATGAGACTGAGAGCTGTCATCGGATTCAAGCTCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGC... | pathogenic | 114,832 |
A genetic variant on chromosome 6, position 170283264, affects the gene DLL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures'] | CTGCGATGGATTGATATGTCCGTGTCTCTTTGTATCTATGGGTTCCCCCTCACCATTTTCTTGTTTTTTCCTTGCAATTTATTTGGCTACAGAGTTCCCTGGATTCGGCTGCGCAGATGCGTGGGGCGTCGAGGAAGGAGTTTTCAGTCCCGTGTTTCCGTAACTGGTAATGAGACTGAGAGCTGTCATCGGATTCAAGCTCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGT... | CTGCGATGGATTGATATGTCCGTGTCTCTTTGTATCTATGGGTTCCCCCTCACCATTTTCTTGTTTTTTCCTTGCAATTTATTTGGCTACAGAGTTCCCTGGATTCGGCTGCGCAGATGCGTGGGGCGTCGAGGAAGGAGTTTTCAGTCCCGTGTTTCCGTAACTGGTAATGAGACTGAGAGCTGTCATCGGATTCAAGCTCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGT... | pathogenic | 114,835 |
Gene DLL1 (delta like canonical Notch ligand 1) variant at chromosome position 170283464 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures'] | TCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGTGCCTCCGCGCAGCTCCTGCTACATCGGTCGCCCTCTTTCCATCCTGGGAACCGCTCAGCGCTTTGAGGTACGCGCAAGTTAAAAATGCAATCACTACCATAAGGAACCCGGGCTTAGCGGGGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGA... | TCAATGTTCTTAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGTGCCTCCGCGCAGCTCCTGCTACATCGGTCGCCCTCTTTCCATCCTGGGAACCGCTCAGCGCTTTGAGGTACGCGCAAGTTAAAAATGCAATCACTACCATAAGGAACCCGGGCTTAGCGGGGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGA... | pathogenic | 114,844 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 170283474, gene DLL1 (delta like canonical Notch ligand 1): what disease(s) if pathogenic? | benign | TAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGTGCCTCCGCGCAGCTCCTGCTACATCGGTCGCCCTCTTTCCATCCTGGGAACCGCTCAGCGCTTTGAGGTACGCGCAAGTTAAAAATGCAATCACTACCATAAGGAACCCGGGCTTAGCGGGGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGAGACGGGGCTG... | TAGCAAAACACTTCTCCTCTTTGCTGGTGTTGCTGGCCTGGCATTTAACGTGCCCTTAATGCAAGGAGGAAATGCAAGCGGAGTCGGGTCTGAGGGGAGTGAGCGCCAGTGCCTCCGCGCAGCTCCTGCTACATCGGTCGCCCTCTTTCCATCCTGGGAACCGCTCAGCGCTTTGAGGTACGCGCAAGTTAAAAATGCAATCACTACCATAAGGAACCCGGGCTTAGCGGGGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGAGACGGGGCTG... | benign | 114,845 |
A genetic variant on chromosome 6, position 170283704, affects the gene DLL1 (delta like canonical Notch ligand 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurodevelopmental_disorder_with_nonspecific_brain_abnormalities_and_with_or_without_seizures'] | GGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGAGACGGGGCTGCCCACCGACGGGAAGCGGAGGAGCAGCTTCCGTGACTCCCACGCCCCGTCTGGGGCCATGTTGGCGTCAAACGGCGACAAAATCATGACAGCTGTGACCCACTGGGTACAAAATAACTCACAAGTCTACACTGACATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGGAACGCTCATTCTTTCTGCGGAAAGAACTAATAAATGCATGGGGGGATGGAATT... | GGGGCAAAGCGGCAAATGAGGGGTCAGCCCACAGGGAGCCCGTGCGGTCCTGCTGAGCCAGCAGGCGGGACGCGCTTAGAGACGGGGCTGCCCACCGACGGGAAGCGGAGGAGCAGCTTCCGTGACTCCCACGCCCCGTCTGGGGCCATGTTGGCGTCAAACGGCGACAAAATCATGACAGCTGTGACCCACTGGGTACAAAATAACTCACAAGTCTACACTGACATGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGGAACGCTCATTCTTTCTGCGGAAAGAACTAATAAATGCATGGGGGGATGGAATT... | pathogenic | 114,850 |
Variant chromosome 6, position 170285585, gene DLL1 (delta like canonical Notch ligand 1): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases'] | TCGGCTGGGGGCCGGTGCTTCTGCAGCCTCAGCCGGACGCAGACCACCACAGCGGCACAGCCCAGCAGCAGCATGAGGACAAGGATGACCCCGGCGCACACGGCCACCCAGGGGAATGGCCCGCCCTGGCCCTCTAGCTTCTCAGTGAGGTCCACCACCGCTGGGCCCGGGGGCAGCTCGGGGAGCAGGAACTGGCAGTTGGGACCCCCGTAGCCTCGGGCACACTCGCACACATAGCGGTGGCCCCTCTCGTGGCAGGTGGCCCCATTGTGGCAGGGTGCGTGCTCGCACCTGCTGACGGGGGCACTGCAGTTCCTGCC... | TCGGCTGGGGGCCGGTGCTTCTGCAGCCTCAGCCGGACGCAGACCACCACAGCGGCACAGCCCAGCAGCAGCATGAGGACAAGGATGACCCCGGCGCACACGGCCACCCAGGGGAATGGCCCGCCCTGGCCCTCTAGCTTCTCAGTGAGGTCCACCACCGCTGGGCCCGGGGGCAGCTCGGGGAGCAGGAACTGGCAGTTGGGACCCCCGTAGCCTCGGGCACACTCGCACACATAGCGGTGGCCCCTCTCGTGGCAGGTGGCCCCATTGTGGCAGGGTGCGTGCTCGCACCTGCTGACGGGGGCACTGCAGTTCCTGCC... | pathogenic | 114,881 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 170561949, gene TBP: what disease(s) if pathogenic? | benign | AAAACCATAGAGCCTTAAGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCA... | AAAACCATAGAGCCTTAAGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCA... | benign | 114,889 |
Is the genetic mutation found on chromosome 6 at position 170561963, within the gene TBP, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTAAGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCAGGGCATGGTGGCTC... | TTAAGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCAGGGCATGGTGGCTC... | benign | 114,892 |
The mutation in gene TBP at chromosome 6, position 170561966—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCAGGGCATGGTGGCTCATG... | AGAATTACGCTAAATCTACTCTGCCTGTCCTCAGTAAACAGAACAACAAAACCTGATGAGAGCACGTCTGTTTACAGCATGATTTACTGGATATTTTAAGCTCTTTGAGATCTGCTCAGAAAAAAAGTTTAATTTCAAAATATTACTCACTGACAGTGTAACTAGTTGTCCACAAGCTCTGATGGAGAAGAACAAGGAGATTAATATTGTTTTCATGCCTGCTTAAATAATATATCCATTCTTCAGCCCATGGATCAAGGAGTAATTTCAACTTTCAATTCTTACTATTTAAGAAATACAGCAGGGCATGGTGGCTCATG... | benign | 114,893 |
Considering the variant on chromosome 7, location 246502, involving gene FAM20C (FAM20C golgi associated secretory pathway kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATGAAATCCATTTGCCAGCGCTTAAAACCCGGGAGATTCCACAAGGTCTAGATTCTTTCTCTTGAACCTCAGGATCCCGGCCAGTCTGGGCCTCGGCTCTGCAGGGCGACCCTGGCGGGCAGCATGTTCAGTTTGCCGCCATACCTGCCACTGCCCTGCCCTGCACCCCAACCCTCCTTTGCTGCTGGTTTCAGAAGTGCACAGAGATAGCAATGGCCACAGACCCAGTGGGGTTATGAAGCAAATGTGACCTTCAGGCGCCAGCCCACCATCCGCATTTTATTTTTAAGTAGCTCCTGGAATCCTCATCTGGCCTTGCG... | ATGAAATCCATTTGCCAGCGCTTAAAACCCGGGAGATTCCACAAGGTCTAGATTCTTTCTCTTGAACCTCAGGATCCCGGCCAGTCTGGGCCTCGGCTCTGCAGGGCGACCCTGGCGGGCAGCATGTTCAGTTTGCCGCCATACCTGCCACTGCCCTGCCCTGCACCCCAACCCTCCTTTGCTGCTGGTTTCAGAAGTGCACAGAGATAGCAATGGCCACAGACCCAGTGGGGTTATGAAGCAAATGTGACCTTCAGGCGCCAGCCCACCATCCGCATTTTATTTTTAAGTAGCTCCTGGAATCCTCATCTGGCCTTGCG... | benign | 114,908 |
Determine if the mutation at chromosome 7, position 774202 in gene DNAAF5 (dynein axonemal assembly factor 5) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCCATGGTGTCTCCACCTTGGACACCATGAATCATGAGAGGTTCTCAGGGCTGCCTCCCACAGGCTTTCTGTGTCTTACCTGGGACACTCGGGACTAGTTGTGTTTAGGTTTTCTTAAAATTCTGTAGTAATTGCATTGTAGAGCATCCCTAATCCGAACTTCAGAAATCCAAAATGCTCCAGTGAGTATTTCATTTGAGCATCATGTCAGTGCTCAGATATGGTCAGACCCTGGAGCACTTTGCATTCTGAAGTGAAGGATGCTCAGCCTGCGTCTGACAGAAGCTCCAGAGAAGTGGCTGCGAGTTCAGGGCAAGAGG... | GCCATGGTGTCTCCACCTTGGACACCATGAATCATGAGAGGTTCTCAGGGCTGCCTCCCACAGGCTTTCTGTGTCTTACCTGGGACACTCGGGACTAGTTGTGTTTAGGTTTTCTTAAAATTCTGTAGTAATTGCATTGTAGAGCATCCCTAATCCGAACTTCAGAAATCCAAAATGCTCCAGTGAGTATTTCATTTGAGCATCATGTCAGTGCTCAGATATGGTCAGACCCTGGAGCACTTTGCATTCTGAAGTGAAGGATGCTCAGCCTGCGTCTGACAGAAGCTCCAGAGAAGTGGCTGCGAGTTCAGGGCAAGAGG... | benign | 115,047 |
Does the genetic variant at chromosome 7, position 775031, impacting gene DNAAF5 (dynein axonemal assembly factor 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_18'] | AAAAAAACCTAAGCACTCCTAGGTGGCGCCCGTGTGGCACGCCTGGCCCACACTTGGACCCCACACCCTGAAGGCCAGGACTTCCAGGCCATTTCATGTGGTGACCATGGAGCAGGCGCTGGGTTCGTTCATTCCAGAGAGCCCTCTTGCAAGTCACGGTGCCGAAAATGGCAGCTCTGCTTAAAAACGAACCCACGCCAGAAACCTCGCGGAATGCGTGTAAATCACACCACACCAACGTCACTTTCCACATCTGCTCATCTACCTGGCTGGTCCCAACATGGCCCCTGCCAGGAGCAAGCCGGTGGCGCCTCCAGAAG... | AAAAAAACCTAAGCACTCCTAGGTGGCGCCCGTGTGGCACGCCTGGCCCACACTTGGACCCCACACCCTGAAGGCCAGGACTTCCAGGCCATTTCATGTGGTGACCATGGAGCAGGCGCTGGGTTCGTTCATTCCAGAGAGCCCTCTTGCAAGTCACGGTGCCGAAAATGGCAGCTCTGCTTAAAAACGAACCCACGCCAGAAACCTCGCGGAATGCGTGTAAATCACACCACACCAACGTCACTTTCCACATCTGCTCATCTACCTGGCTGGTCCCAACATGGCCCCTGCCAGGAGCAAGCCGGTGGCGCCTCCAGAAG... | pathogenic | 115,050 |
Is the genetic variant on chromosome 7, position 785534, gene DNAAF5 (dynein axonemal assembly factor 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['DNAAF5-related_disorder', 'Primary_ciliary_dyskinesia_18'] | CGAGGGCCTTGGAGCCCATGTCGGGAGCCCCTGCCTTGAGTCGTGGAATCAGGTTGTCAGCCAGTGAGGGAGCCCCAGAGCCCATTGATCCACGGCGGGGCCCGTGGTCTCTCCAGGTCACGGAAAGAAGCTGCGAATTGGAGACCAATTGGAAATTGTTTAAAAGGAGGACAGCAGCTCACGTGCAGGCCTCGCTGGGACAGCCCATCCTGCCAGATCCACGCAACGCCCCCAGCTCCCCACACTCCCTGGCAAATCCCAGCCCTGCCTGCGCCCTCCCAGCTCTCCTGTCCTGCACTACACACCATCAACCCGAGTTC... | CGAGGGCCTTGGAGCCCATGTCGGGAGCCCCTGCCTTGAGTCGTGGAATCAGGTTGTCAGCCAGTGAGGGAGCCCCAGAGCCCATTGATCCACGGCGGGGCCCGTGGTCTCTCCAGGTCACGGAAAGAAGCTGCGAATTGGAGACCAATTGGAAATTGTTTAAAAGGAGGACAGCAGCTCACGTGCAGGCCTCGCTGGGACAGCCCATCCTGCCAGATCCACGCAACGCCCCCAGCTCCCCACACTCCCTGGCAAATCCCAGCCCTGCCTGCGCCCTCCCAGCTCTCCTGTCCTGCACTACACACCATCAACCCGAGTTC... | pathogenic | 115,062 |
The genetic variant at chromosome 7, position 843192, affecting gene SUN1 (Sad1 and UNC84 domain containing 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGCCCCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCGCCGTACCTGGCCTATGACCACCTATTTTTTTTTTTTTTTTTGAGCCGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGATCACTGCAACCTCTGTCTCCCAGGTTCACTCCATTCTCCTGCCACAGCCTCCCGAGTAGCTGAAACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTC... | GCTGGTCTTGAACTCCCGACCTCAGGTGATCCGCCTGCCCCAGCCTCCCAAAGTGCTGGGATGACAGGTGTGAGCCGCCGTACCTGGCCTATGACCACCTATTTTTTTTTTTTTTTTTGAGCCGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGATCACTGCAACCTCTGTCTCCCAGGTTCACTCCATTCTCCTGCCACAGCCTCCCGAGTAGCTGAAACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTC... | benign | 115,076 |
Variant on chromosome 7, at position 1483982, affecting INTS1 (integrator complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neurodevelopmental_disorder_with_cataracts,_poor_growth,_and_dysmorphic_facies'] | TACACTTCCGAAGCTGCACGCAGGCTGCTGTGACTATCTTCTCTCAGTGCTCAGGGCGCTCTTGCCCCGAAGCCATCGGTGGCTTCCGGGGGCACACAACAGCCTAGACCCCTTGGCAGTCATGGGTTTCCAGAGCCAGCCCCACTCACTCACCAAGCTGCCCCCAGTGTCTCCTCACTGTGAGCAGGCACCAGCCCTACTGACCTACGTGGGCCCAGGCCCCTTGCTCAGTCCTTGCTGGGGTCCCCGGCTGCAGCTCCAACCCCCAAATCCTTCAGGGACCCACCCAGAGGCCCCACCACTTCTCCTCCTCCTCTCCA... | TACACTTCCGAAGCTGCACGCAGGCTGCTGTGACTATCTTCTCTCAGTGCTCAGGGCGCTCTTGCCCCGAAGCCATCGGTGGCTTCCGGGGGCACACAACAGCCTAGACCCCTTGGCAGTCATGGGTTTCCAGAGCCAGCCCCACTCACTCACCAAGCTGCCCCCAGTGTCTCCTCACTGTGAGCAGGCACCAGCCCTACTGACCTACGTGGGCCCAGGCCCCTTGCTCAGTCCTTGCTGGGGTCCCCGGCTGCAGCTCCAACCCCCAAATCCTTCAGGGACCCACCCAGAGGCCCCACCACTTCTCCTCCTCCTCTCCA... | pathogenic | 115,111 |
Is the genetic mutation found on chromosome 7 at position 2513247, within the gene LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAGTGGTGATGGTGGACAGAGCCACTCCCAAGAGTGTTAGAGACCTGGGGTGGGGGCATCCAGGCAGACCACCCTCACCCCACCCTGTGGGACCCAAACCAGCTCACTTCCCTCTCTGGGCTCAGCTTCCTCATTTGCAAAATGAGGCCAAGAGTCACACCCGGCCCGGCCTGTGACCCCGGAGCCCCCTCCAGCCTCCTGCCTCACTCTGGCACCAGGCCTCCCTGCAGCTTGCAGAGCAAGCGGGGTACCGTCTCCCCGAGGTGCAGCCTGGGGGGCTGTGGCAGGTGATGGGAGCAGCTGTATTTGAGGGCAGGGT... | ACAGTGGTGATGGTGGACAGAGCCACTCCCAAGAGTGTTAGAGACCTGGGGTGGGGGCATCCAGGCAGACCACCCTCACCCCACCCTGTGGGACCCAAACCAGCTCACTTCCCTCTCTGGGCTCAGCTTCCTCATTTGCAAAATGAGGCCAAGAGTCACACCCGGCCCGGCCTGTGACCCCGGAGCCCCCTCCAGCCTCCTGCCTCACTCTGGCACCAGGCCTCCCTGCAGCTTGCAGAGCAAGCGGGGTACCGTCTCCCCGAGGTGCAGCCTGGGGGGCTGTGGCAGGTGATGGGAGCAGCTGTATTTGAGGGCAGGGT... | benign | 115,138 |
Is the genetic mutation found on chromosome 7 at position 2513247, within the gene LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAGTGGTGATGGTGGACAGAGCCACTCCCAAGAGTGTTAGAGACCTGGGGTGGGGGCATCCAGGCAGACCACCCTCACCCCACCCTGTGGGACCCAAACCAGCTCACTTCCCTCTCTGGGCTCAGCTTCCTCATTTGCAAAATGAGGCCAAGAGTCACACCCGGCCCGGCCTGTGACCCCGGAGCCCCCTCCAGCCTCCTGCCTCACTCTGGCACCAGGCCTCCCTGCAGCTTGCAGAGCAAGCGGGGTACCGTCTCCCCGAGGTGCAGCCTGGGGGGCTGTGGCAGGTGATGGGAGCAGCTGTATTTGAGGGCAGGGT... | ACAGTGGTGATGGTGGACAGAGCCACTCCCAAGAGTGTTAGAGACCTGGGGTGGGGGCATCCAGGCAGACCACCCTCACCCCACCCTGTGGGACCCAAACCAGCTCACTTCCCTCTCTGGGCTCAGCTTCCTCATTTGCAAAATGAGGCCAAGAGTCACACCCGGCCCGGCCTGTGACCCCGGAGCCCCCTCCAGCCTCCTGCCTCACTCTGGCACCAGGCCTCCCTGCAGCTTGCAGAGCAAGCGGGGTACCGTCTCCCCGAGGTGCAGCCTGGGGGGCTGTGGCAGGTGATGGGAGCAGCTGTATTTGAGGGCAGGGT... | benign | 115,139 |
Is the variant located on chromosome 7 at position 2538243, gene BRAT1 (BRCA1 associated ATM activator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['BRAT1-related_disorder', 'Inborn_genetic_diseases', 'Neonatal-onset_encephalopathy_with_rigidity_and_seizures'] | TCCGCAGAGCCCCTCCCTCTCTGAGTTCCCCCAGGCCAGAGCTGAGAGCCAGGCTCTCCAGATCCCTGTGGGAGGGCCTTGTATCTGAGTCCAGTTTTCCTCCAGCACGAGGCCTGGCATTTAATTACCTGCTATCTTGTCAGCTGTTCAGTGTTCCTGGCCTTTGGATATTTCACCCAGCGTGTTTCATCGTCTTCAGGGAAACGGCTGGTCCAGGCACCTAGCCTGCTGTCACCAGGAAGGGACATGTGCCCCGAGGCGGGGCTGATGTCACTGCTGCACCCTGGTGGGGCGCACCAGCCCACGGCTGTGCCACCCGG... | TCCGCAGAGCCCCTCCCTCTCTGAGTTCCCCCAGGCCAGAGCTGAGAGCCAGGCTCTCCAGATCCCTGTGGGAGGGCCTTGTATCTGAGTCCAGTTTTCCTCCAGCACGAGGCCTGGCATTTAATTACCTGCTATCTTGTCAGCTGTTCAGTGTTCCTGGCCTTTGGATATTTCACCCAGCGTGTTTCATCGTCTTCAGGGAAACGGCTGGTCCAGGCACCTAGCCTGCTGTCACCAGGAAGGGACATGTGCCCCGAGGCGGGGCTGATGTCACTGCTGCACCCTGGTGGGGCGCACCAGCCCACGGCTGTGCCACCCGG... | pathogenic | 115,166 |
Does the genetic variant at chromosome 7, position 2538406, impacting gene BRAT1 (BRCA1 associated ATM activator 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BRAT1-associated_neurodegenerative_disorder', 'BRAT1-related_disorder', 'Inborn_genetic_diseases', 'Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | TTGGATATTTCACCCAGCGTGTTTCATCGTCTTCAGGGAAACGGCTGGTCCAGGCACCTAGCCTGCTGTCACCAGGAAGGGACATGTGCCCCGAGGCGGGGCTGATGTCACTGCTGCACCCTGGTGGGGCGCACCAGCCCACGGCTGTGCCACCCGGGAGGTGCCCTTTTGTTGGAGGGCATTTGCCAAAACCAGCAAACTTGGGTTCTCATTCTGTGGCCTTGAGGGGTCAGGGGGACAGAAGTCAAGGGCCAGTCCTGCCCAAAATGGGGAGCATTATAGAAAACCCTTCCCACCTTAAGCTGAAAACCTAAAGGTCT... | TTGGATATTTCACCCAGCGTGTTTCATCGTCTTCAGGGAAACGGCTGGTCCAGGCACCTAGCCTGCTGTCACCAGGAAGGGACATGTGCCCCGAGGCGGGGCTGATGTCACTGCTGCACCCTGGTGGGGCGCACCAGCCCACGGCTGTGCCACCCGGGAGGTGCCCTTTTGTTGGAGGGCATTTGCCAAAACCAGCAAACTTGGGTTCTCATTCTGTGGCCTTGAGGGGTCAGGGGGACAGAAGTCAAGGGCCAGTCCTGCCCAAAATGGGGAGCATTATAGAAAACCCTTCCCACCTTAAGCTGAAAACCTAAAGGTCT... | pathogenic | 115,177 |
A genetic variant on chromosome 7, position 2538603, affects the gene BRAT1 (BRCA1 associated ATM activator 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AACTTGGGTTCTCATTCTGTGGCCTTGAGGGGTCAGGGGGACAGAAGTCAAGGGCCAGTCCTGCCCAAAATGGGGAGCATTATAGAAAACCCTTCCCACCTTAAGCTGAAAACCTAAAGGTCTACACTCTTAGGGTAAGAATGAAACGGAATTAGCCCTGCTCCCTCCACACGAAAGACACTTGGTGCTAAGAGAAGCAAAAAGAAAAAGTTCTTCAGAAGTTAGGGCTACAGGTCTTCTCTAGCACAGATTTGAGGTGCTAGCACAGATTTGAGGTGCTGCCAAGAATGCAGAGAACTCCAAGCACTCAATGCGTTGTT... | AACTTGGGTTCTCATTCTGTGGCCTTGAGGGGTCAGGGGGACAGAAGTCAAGGGCCAGTCCTGCCCAAAATGGGGAGCATTATAGAAAACCCTTCCCACCTTAAGCTGAAAACCTAAAGGTCTACACTCTTAGGGTAAGAATGAAACGGAATTAGCCCTGCTCCCTCCACACGAAAGACACTTGGTGCTAAGAGAAGCAAAAAGAAAAAGTTCTTCAGAAGTTAGGGCTACAGGTCTTCTCTAGCACAGATTTGAGGTGCTAGCACAGATTTGAGGTGCTGCCAAGAATGCAGAGAACTCCAAGCACTCAATGCGTTGTT... | benign | 115,184 |
Clinically, how would you classify the variant at chromosome 7, position 2539238, gene BRAT1 (BRCA1 associated ATM activator 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neonatal-onset_encephalopathy_with_rigidity_and_seizures'] | CTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAAGACTGAGACTCCATCTCTGAACAAAAAAAAATGTGTAGAGATGGGGTCTTGCTATGTTGTCCAGGCTATTCTCAAACTCCTGGCCTTAAACAATCCTCCTACCTCGGCCTCCCGAAGTGTTGGAATTACAGGCGTGAGCCACTGCGCCCAGCCCCCAGGAATAATTTTAACCAAAATAAATTGGCCGGGCGGAGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCTGAGGTGGGTCAATCACCTGAGG... | CTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAAGACTGAGACTCCATCTCTGAACAAAAAAAAATGTGTAGAGATGGGGTCTTGCTATGTTGTCCAGGCTATTCTCAAACTCCTGGCCTTAAACAATCCTCCTACCTCGGCCTCCCGAAGTGTTGGAATTACAGGCGTGAGCCACTGCGCCCAGCCCCCAGGAATAATTTTAACCAAAATAAATTGGCCGGGCGGAGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCTGAGGTGGGTCAATCACCTGAGG... | pathogenic | 115,200 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 2540962, gene BRAT1 (BRCA1 associated ATM activator 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Neonatal-onset_encephalopathy_with_rigidity_and_seizures'] | CACACGGCCCTCCAATCCTCAGTTTACCCATCTGTCAAATGGAGGTAACCATGTCTAAGTGGAGGGGTGCTGGGGAGACAGAAGGCGAAGCGCACAGGTCCCACACCCAGCACAGCCCCAGGGCCTCGGCAGTCACTGCTGCAGGCGCTGCCCACAGCAGCAGCTGCTCCCACGCTGCATGCTGGCCGCTCGACCACCCGCAAGCAAACGAGCACACACGATGGCCAGGCGGGAGTTGCTGGCTGAGGAACCTGCCACCTCCTACCTGCCGGGCCTCTGCATGCTCAGGGCTGGTGGGGGCGTGCAGGCCCTGGCTGGAC... | CACACGGCCCTCCAATCCTCAGTTTACCCATCTGTCAAATGGAGGTAACCATGTCTAAGTGGAGGGGTGCTGGGGAGACAGAAGGCGAAGCGCACAGGTCCCACACCCAGCACAGCCCCAGGGCCTCGGCAGTCACTGCTGCAGGCGCTGCCCACAGCAGCAGCTGCTCCCACGCTGCATGCTGGCCGCTCGACCACCCGCAAGCAAACGAGCACACACGATGGCCAGGCGGGAGTTGCTGGCTGAGGAACCTGCCACCTCCTACCTGCCGGGCCTCTGCATGCTCAGGGCTGGTGGGGGCGTGCAGGCCCTGGCTGGAC... | pathogenic | 115,217 |
Is the chromosome 7, position 2541304 variant in BRAT1 (BRCA1 associated ATM activator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | CACTCGCTCGGACATAACTCTCAGGGTCCTGGAGGAGCTGCAGGGCCAGCTGAGGCACCTCTGAAGCCAAGAGTGCGCATCTGAAGTCAGCCTGTCCTGGGGGTCGAAACGGCCACATGCAGCTGTGACTGAGGGCCGAGCCTTGTCGCCTCGGCCTCTGCCTCCATCCCCTTGTGGGCAGCCGACATGGCCCAAGTTTCTAGAGCCAGCAAGAGGCTGCTGGTGCACCCTGGCTCAGTGAGCCCCCCACAGGCGGGGAAGGCAGCCCCTCCACCTGCCAGCACTCACCTCCCCAGTGCCTGCTCAGCTGGGTCAGGAAC... | CACTCGCTCGGACATAACTCTCAGGGTCCTGGAGGAGCTGCAGGGCCAGCTGAGGCACCTCTGAAGCCAAGAGTGCGCATCTGAAGTCAGCCTGTCCTGGGGGTCGAAACGGCCACATGCAGCTGTGACTGAGGGCCGAGCCTTGTCGCCTCGGCCTCTGCCTCCATCCCCTTGTGGGCAGCCGACATGGCCCAAGTTTCTAGAGCCAGCAAGAGGCTGCTGGTGCACCCTGGCTCAGTGAGCCCCCCACAGGCGGGGAAGGCAGCCCCTCCACCTGCCAGCACTCACCTCCCCAGTGCCTGCTCAGCTGGGTCAGGAAC... | pathogenic | 115,221 |
Clinically, how would you classify the variant at chromosome 7, position 2541414, gene BRAT1 (BRCA1 associated ATM activator 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Neonatal-onset_encephalopathy_with_rigidity_and_seizures'] | GGCCACATGCAGCTGTGACTGAGGGCCGAGCCTTGTCGCCTCGGCCTCTGCCTCCATCCCCTTGTGGGCAGCCGACATGGCCCAAGTTTCTAGAGCCAGCAAGAGGCTGCTGGTGCACCCTGGCTCAGTGAGCCCCCCACAGGCGGGGAAGGCAGCCCCTCCACCTGCCAGCACTCACCTCCCCAGTGCCTGCTCAGCTGGGTCAGGAACTCGAGGGCGGAGTCCCTCACCTCCCAGCAGGGGTGGCACAGGCGTTTCTGCAGCACAGGGAACAGCTCTAGGGTGGGAAGGGACAGGTCAGGGTGACCTTGGGGCCAGGC... | GGCCACATGCAGCTGTGACTGAGGGCCGAGCCTTGTCGCCTCGGCCTCTGCCTCCATCCCCTTGTGGGCAGCCGACATGGCCCAAGTTTCTAGAGCCAGCAAGAGGCTGCTGGTGCACCCTGGCTCAGTGAGCCCCCCACAGGCGGGGAAGGCAGCCCCTCCACCTGCCAGCACTCACCTCCCCAGTGCCTGCTCAGCTGGGTCAGGAACTCGAGGGCGGAGTCCCTCACCTCCCAGCAGGGGTGGCACAGGCGTTTCTGCAGCACAGGGAACAGCTCTAGGGTGGGAAGGGACAGGTCAGGGTGACCTTGGGGCCAGGC... | pathogenic | 115,226 |
Is the variant located on chromosome 7 at position 2543754, gene BRAT1 (BRCA1 associated ATM activator 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['BRAT1-related_disorder', 'Inborn_genetic_diseases', 'Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | GGCCGCACCTACCAGCGGCTGCAGCTCCTCCAGGTGAGCCAGGGTGCGGCACAGGAGGCCGGCGCAGGACGACTTGGAGGCCAGGAGTGTGTCCACCGTCGTGGCATCGTCTGCCGTCCCGTCCAGCAAGCCTGGGGGCCAAGCCAGGAAGAGCTCCCTTAGAGAGCACTTCAGCCTCCCCACGGTCACCAGCCACCCCACGGTCACCACCCACAGCACAGGCCAGGACCTAGGTGCAGAGCAGCAGCTCACCAGGGGAGATGGCCATGTCCCCGGTCCCCTTTGCTCTTGGAGGGAGGCCTGGGTGTGATTAAAGTGGG... | GGCCGCACCTACCAGCGGCTGCAGCTCCTCCAGGTGAGCCAGGGTGCGGCACAGGAGGCCGGCGCAGGACGACTTGGAGGCCAGGAGTGTGTCCACCGTCGTGGCATCGTCTGCCGTCCCGTCCAGCAAGCCTGGGGGCCAAGCCAGGAAGAGCTCCCTTAGAGAGCACTTCAGCCTCCCCACGGTCACCAGCCACCCCACGGTCACCACCCACAGCACAGGCCAGGACCTAGGTGCAGAGCAGCAGCTCACCAGGGGAGATGGCCATGTCCCCGGTCCCCTTTGCTCTTGGAGGGAGGCCTGGGTGTGATTAAAGTGGG... | pathogenic | 115,257 |
Is the chromosome 7, position 2543939 variant in BRAT1 (BRCA1 associated ATM activator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BRAT1-related_disorder', 'Inborn_genetic_diseases', 'Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | TCACCAGCCACCCCACGGTCACCACCCACAGCACAGGCCAGGACCTAGGTGCAGAGCAGCAGCTCACCAGGGGAGATGGCCATGTCCCCGGTCCCCTTTGCTCTTGGAGGGAGGCCTGGGTGTGATTAAAGTGGGGCGGGGGTGGCGAGCCAGCTACTCTCATCCATCTCCCTTCCCCCAGCCGCAGGGACCCAGGTTCTGCCCTCCCAGCCCTTTCTAAGCAGCACACCTGGGGGTCCGGGGGCCTGAACCGTGGCCTTCAGGACACAGGCCAGGGGCTGGAGAAGGACCTGGAAGGCCTGGGTCCTCAGTGCCTGTGG... | TCACCAGCCACCCCACGGTCACCACCCACAGCACAGGCCAGGACCTAGGTGCAGAGCAGCAGCTCACCAGGGGAGATGGCCATGTCCCCGGTCCCCTTTGCTCTTGGAGGGAGGCCTGGGTGTGATTAAAGTGGGGCGGGGGTGGCGAGCCAGCTACTCTCATCCATCTCCCTTCCCCCAGCCGCAGGGACCCAGGTTCTGCCCTCCCAGCCCTTTCTAAGCAGCACACCTGGGGGTCCGGGGGCCTGAACCGTGGCCTTCAGGACACAGGCCAGGGGCTGGAGAAGGACCTGGAAGGCCTGGGTCCTCAGTGCCTGTGG... | pathogenic | 115,265 |
A mutation at chromosome position 2544992 on chromosome 7 in gene BRAT1 (BRCA1 associated ATM activator 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | TGCTCTGAGCAGAGCAGCTCCCGCATCCTTCTCACCTCTGGGGATCTCGCAGAGCTTTGGTCTGAAACAATTATTCTGTTGCTAAAGAACCTTCAGAAGCTGCCGCGCGCAACCCACGCACCACCCAGTCACACCCCGCACGGCCGCCTGACTGTCCCTGGTGTCCGGAACTCCCCTGCCATGAGGGCTGCGCTCTCAACCTCCCTGCCTGCCCCAGCTCCCAGCACCCGCCTCGGAATGAAATGCACCCCAGACCATACCAGTGCTCGAGCTTCAGGATCCCCAAAGCCAGGGGTCCCATGTGGGTGGGACCCAGGCAG... | TGCTCTGAGCAGAGCAGCTCCCGCATCCTTCTCACCTCTGGGGATCTCGCAGAGCTTTGGTCTGAAACAATTATTCTGTTGCTAAAGAACCTTCAGAAGCTGCCGCGCGCAACCCACGCACCACCCAGTCACACCCCGCACGGCCGCCTGACTGTCCCTGGTGTCCGGAACTCCCCTGCCATGAGGGCTGCGCTCTCAACCTCCCTGCCTGCCCCAGCTCCCAGCACCCGCCTCGGAATGAAATGCACCCCAGACCATACCAGTGCTCGAGCTTCAGGATCCCCAAAGCCAGGGGTCCCATGTGGGTGGGACCCAGGCAG... | pathogenic | 115,270 |
Is the chromosome 7, position 2545044 variant in BRAT1 (BRCA1 associated ATM activator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['BRAT1-related_disorder', 'Inborn_genetic_diseases', 'Neonatal-onset_encephalopathy_with_rigidity_and_seizures', 'Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures'] | AGCTTTGGTCTGAAACAATTATTCTGTTGCTAAAGAACCTTCAGAAGCTGCCGCGCGCAACCCACGCACCACCCAGTCACACCCCGCACGGCCGCCTGACTGTCCCTGGTGTCCGGAACTCCCCTGCCATGAGGGCTGCGCTCTCAACCTCCCTGCCTGCCCCAGCTCCCAGCACCCGCCTCGGAATGAAATGCACCCCAGACCATACCAGTGCTCGAGCTTCAGGATCCCCAAAGCCAGGGGTCCCATGTGGGTGGGACCCAGGCAGCTCAGAGCCCGCGCCACTGTCTCCCACAGGCTGCCGTCGGAAGAACTGAACA... | AGCTTTGGTCTGAAACAATTATTCTGTTGCTAAAGAACCTTCAGAAGCTGCCGCGCGCAACCCACGCACCACCCAGTCACACCCCGCACGGCCGCCTGACTGTCCCTGGTGTCCGGAACTCCCCTGCCATGAGGGCTGCGCTCTCAACCTCCCTGCCTGCCCCAGCTCCCAGCACCCGCCTCGGAATGAAATGCACCCCAGACCATACCAGTGCTCGAGCTTCAGGATCCCCAAAGCCAGGGGTCCCATGTGGGTGGGACCCAGGCAGCTCAGAGCCCGCGCCACTGTCTCCCACAGGCTGCCGTCGGAAGAACTGAACA... | pathogenic | 115,272 |
A genetic variant at chromosome 7, position 2926810, affecting gene CARD11 (caspase recruitment domain family member 11)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGACTACAGGTGTGCACCACCATGTCTGGATAATTAAAAAAAAATTTTTTTTTATAGAGACGGGGTCTCACTATGCTGTCCAGGCTGGTTTTTAATTTCTGGGCTCAAGCCATCCTCCTCTCTTGGCTTTCCAAGGAGCTGGGACTACAGGCATATGCCACCATGCCTGGCTAATTAATTATTTTTTTGTAGAGACAGGGTCTTGCTATGTCACCCCTCCTGGCCTCCAGTGATCCACCAGCCTTGGCCTCTCAGAACGCTGGTATTACAGGCGTGAGGCACCGCGGCTGGCTTCATTCTGTTCTTGAATTGGGCCCCCA... | GGACTACAGGTGTGCACCACCATGTCTGGATAATTAAAAAAAAATTTTTTTTTATAGAGACGGGGTCTCACTATGCTGTCCAGGCTGGTTTTTAATTTCTGGGCTCAAGCCATCCTCCTCTCTTGGCTTTCCAAGGAGCTGGGACTACAGGCATATGCCACCATGCCTGGCTAATTAATTATTTTTTTGTAGAGACAGGGTCTTGCTATGTCACCCCTCCTGGCCTCCAGTGATCCACCAGCCTTGGCCTCTCAGAACGCTGGTATTACAGGCGTGAGGCACCGCGGCTGGCTTCATTCTGTTCTTGAATTGGGCCCCCA... | benign | 115,323 |
For chromosome 7, position 4781213, gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_48', 'Macular_dystrophy_with_or_without_extraocular_features'] | AACATATATAACATAACATATATAACAACATAATATATAGCATATATTATGTATAACATATATTAGATATAACATATATAACATTAGAAATAATGTATATAACATAACATAACGTATATAACGCATATAACAACATATATAACGTATATAACATAACACGTTATATATGATATATAACATATAACATGTTATATATCATAACGTGTTATATGTCATATAACATGATTATTATATATCATATATAACATGATAACATATATATCATATATAACATATATAACATTATATATAACATATATATTATATTATATATATATATT... | AACATATATAACATAACATATATAACAACATAATATATAGCATATATTATGTATAACATATATTAGATATAACATATATAACATTAGAAATAATGTATATAACATAACATAACGTATATAACGCATATAACAACATATATAACGTATATAACATAACACGTTATATATGATATATAACATATAACATGTTATATATCATAACGTGTTATATGTCATATAACATGATTATTATATATCATATATAACATGATAACATATATATCATATATAACATATATAACATTATATATAACATATATATTATATTATATATATATATT... | pathogenic | 115,357 |
A genetic variant at chromosome 7, position 4781741, affecting gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_spastic_paraplegia_48'] | TGCAATGGCATGATCTCAGCTCACTGCAACCTCCTCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTTGTGCCACCACGCCCAGCTATTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCTCCATGTTAGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCAGCCCGCCTCGGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCGTGCGTGGCCGAATTTTTTTTATTCTTTTGTAGAGATGGGGTCTCACTGTTTTGCCCAGGATGGTCTCAGACATCTGCAC... | TGCAATGGCATGATCTCAGCTCACTGCAACCTCCTCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTTGTGCCACCACGCCCAGCTATTTTTTTTTGTATTTTTAGTAGAAACGGGGTTTCTCCATGTTAGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCAGCCCGCCTCGGCCTCCCAAAATGCTAGGATTACAGGTGTGAGCCACCGTGCGTGGCCGAATTTTTTTTATTCTTTTGTAGAGATGGGGTCTCACTGTTTTGCCCAGGATGGTCTCAGACATCTGCAC... | pathogenic | 115,361 |
Evaluate this variant at chromosome 7, position 4784981, gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_48'] | CAGATGTTTCAGCACCTGGGTGTGCAGAGTGAGGTGGGTGGTTTAAAGACTGGGATCCACACTGGAGGCCCCGCAGGACGGGGTGTCCTGTGTCTGCGGCCAGGGCCATGGTGGCCGCCAGTGTGTTTTTAGCATTGAATCAGCCGTGCCCTCACCCAGGCCCCCTCCAGCCTCAGCGATGCAGCTCCCAGGGAGAGAGGCTGGAGGCGGAGCAGGCACCTTGTGGCCCGGGGTGGGCCTGCGCGGGACATCCTCCCTGCCACCTGCTAGGCCGGGGTCTCAGCGACCGACGCTTCTCAGGAGTGTCACACAGACTTCCG... | CAGATGTTTCAGCACCTGGGTGTGCAGAGTGAGGTGGGTGGTTTAAAGACTGGGATCCACACTGGAGGCCCCGCAGGACGGGGTGTCCTGTGTCTGCGGCCAGGGCCATGGTGGCCGCCAGTGTGTTTTTAGCATTGAATCAGCCGTGCCCTCACCCAGGCCCCCTCCAGCCTCAGCGATGCAGCTCCCAGGGAGAGAGGCTGGAGGCGGAGCAGGCACCTTGTGGCCCGGGGTGGGCCTGCGCGGGACATCCTCCCTGCCACCTGCTAGGCCGGGGTCTCAGCGACCGACGCTTCTCAGGAGTGTCACACAGACTTCCG... | pathogenic | 115,379 |
Variant in AP5Z1 (adaptor related protein complex 5 subunit zeta 1), chromosome 7, position 4785432—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_spastic_paraplegia_48', 'Macular_dystrophy_with_or_without_extraocular_features'] | TGAGGGACCCAGCCTCAGACACCTCCTCCCCGTCATGGCCAAGGTCGTGGTCCTCAGCCCGGGCACCCTCCAGGAGGGTACGCGGGGCCCCTCCCAAGAGGCTGTTGGGGGTCTGCCTTCCCAGGTCCTTCCCTGAGGGCCCATGGTGGGTTGGGAGTGTGGGGGGCAGGTGGGGGACACGGGGAGGCCCGAGGGTTTGGGACGCTGCAGGATTCTGTTTTCTGAGAAAAGTCGGCCAGCATCCCAACAACCCAGGCATCTGTAGGATTCAACCTCACCTCCCCATGCCACCCCACCCACTGCAGACCAGGCCACCCTGC... | TGAGGGACCCAGCCTCAGACACCTCCTCCCCGTCATGGCCAAGGTCGTGGTCCTCAGCCCGGGCACCCTCCAGGAGGGTACGCGGGGCCCCTCCCAAGAGGCTGTTGGGGGTCTGCCTTCCCAGGTCCTTCCCTGAGGGCCCATGGTGGGTTGGGAGTGTGGGGGGCAGGTGGGGGACACGGGGAGGCCCGAGGGTTTGGGACGCTGCAGGATTCTGTTTTCTGAGAAAAGTCGGCCAGCATCCCAACAACCCAGGCATCTGTAGGATTCAACCTCACCTCCCCATGCCACCCCACCCACTGCAGACCAGGCCACCCTGC... | pathogenic | 115,383 |
Is the genetic change at chromosome 7, position 4785517, within gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_48', 'Retinal_dystrophy'] | GGCCCCTCCCAAGAGGCTGTTGGGGGTCTGCCTTCCCAGGTCCTTCCCTGAGGGCCCATGGTGGGTTGGGAGTGTGGGGGGCAGGTGGGGGACACGGGGAGGCCCGAGGGTTTGGGACGCTGCAGGATTCTGTTTTCTGAGAAAAGTCGGCCAGCATCCCAACAACCCAGGCATCTGTAGGATTCAACCTCACCTCCCCATGCCACCCCACCCACTGCAGACCAGGCCACCCTGCTCAGCAAGCGGCTGGTCGACTGGCTGCGCTACGCCAGCCTCCAGCAAGGGCTCCCACACTCCGGCGGCTTCTTCTCCACGCCCAG... | GGCCCCTCCCAAGAGGCTGTTGGGGGTCTGCCTTCCCAGGTCCTTCCCTGAGGGCCCATGGTGGGTTGGGAGTGTGGGGGGCAGGTGGGGGACACGGGGAGGCCCGAGGGTTTGGGACGCTGCAGGATTCTGTTTTCTGAGAAAAGTCGGCCAGCATCCCAACAACCCAGGCATCTGTAGGATTCAACCTCACCTCCCCATGCCACCCCACCCACTGCAGACCAGGCCACCCTGCTCAGCAAGCGGCTGGTCGACTGGCTGCGCTACGCCAGCCTCCAGCAAGGGCTCCCACACTCCGGCGGCTTCTTCTCCACGCCCAG... | pathogenic | 115,386 |
Variant chromosome 7, position 4789840, gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_spastic_paraplegia_48'] | TCTGCCAGCGCTGCGTCTCCCAGCCAGCTGGTTCCACACACTGGGCCCCCTCCTCGCTGCTCCTGACCCCTACACCGGGGACCCTCCTTCTTCCCCCCCCAACACCTGACCAGTCCTCCCCTGCAAAGCCACCTCTAGGACAGGGTGTGTCTGTCACCCTTGGCCACTTGCCAAGGGCAGCCCCTGCACCCTGGAGTGCCTCACCCGTCTTCACGCCCAGGCCTGGAGCCTCCCATGCCAAGCCCTTCCTGGCACCCGAGGTGCTGTGATATTAGGGACACCTGCCGTGTGTCTCCCTGACGGGGGTGCCCTTGAGTGCA... | TCTGCCAGCGCTGCGTCTCCCAGCCAGCTGGTTCCACACACTGGGCCCCCTCCTCGCTGCTCCTGACCCCTACACCGGGGACCCTCCTTCTTCCCCCCCCAACACCTGACCAGTCCTCCCCTGCAAAGCCACCTCTAGGACAGGGTGTGTCTGTCACCCTTGGCCACTTGCCAAGGGCAGCCCCTGCACCCTGGAGTGCCTCACCCGTCTTCACGCCCAGGCCTGGAGCCTCCCATGCCAAGCCCTTCCTGGCACCCGAGGTGCTGTGATATTAGGGACACCTGCCGTGTGTCTCCCTGACGGGGGTGCCCTTGAGTGCA... | pathogenic | 115,420 |
Considering the variant on chromosome 7, location 4791165, involving gene AP5Z1 (adaptor related protein complex 5 subunit zeta 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAGGCCCCGTCCCTTGTCCCATCCCCTTTATTCCAGCAGGCCCCGTTCCCCAGTCCCCGTCCCATCCCCTTCATCCCGGCAGGCCACGTCCCCCAATCCCCGTCCCATCCCCTTCATCCCGGCAGGTCCTGTCTCCCATCCCAGCAGGCTCCATCCAACTGCCCCAGCAGGCCCTGTCTTCCGTCCCCAGGACAGGGCAAGTGAGTGGCCTGGGCTCTGGCCACACAGCTGGGGCCGGAGCAGTTTGTCCCCCTGCTGCCCCTGATAATTCAGCATCCCCATCTGAGGCCAAAATAAAGGCTCCCACAGGCTGGTGCCCC... | CAGGCCCCGTCCCTTGTCCCATCCCCTTTATTCCAGCAGGCCCCGTTCCCCAGTCCCCGTCCCATCCCCTTCATCCCGGCAGGCCACGTCCCCCAATCCCCGTCCCATCCCCTTCATCCCGGCAGGTCCTGTCTCCCATCCCAGCAGGCTCCATCCAACTGCCCCAGCAGGCCCTGTCTTCCGTCCCCAGGACAGGGCAAGTGAGTGGCCTGGGCTCTGGCCACACAGCTGGGGCCGGAGCAGTTTGTCCCCCTGCTGCCCCTGATAATTCAGCATCCCCATCTGAGGCCAAAATAAAGGCTCCCACAGGCTGGTGCCCC... | benign | 115,432 |
Clinical significance of chromosome 7, position 5527778, gene ACTB (actin beta): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Baraitser-Winter_syndrome_1', 'Inborn_genetic_diseases'] | TGACAGCTCCTCCAGGGCAGGGTCCTTGTCCAGGTCATCTCAGTAGCCTCCCCCACCGTAGAGTGGTCACTCAATGAATGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAAC... | TGACAGCTCCTCCAGGGCAGGGTCCTTGTCCAGGTCATCTCAGTAGCCTCCCCCACCGTAGAGTGGTCACTCAATGAATGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAAC... | pathogenic | 115,481 |
Does the genetic variant at chromosome 7, position 5528722, impacting gene ACTB (actin beta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTG... | CAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTG... | benign | 115,533 |
A genetic variant at chromosome 7, position 5973306, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCCTGCAACTAGACAGCCCCATCTGGGGGTGACGGGAGACAGTGACAGATCATCAGGCATCAGATTCTCATAAGGAGCGTGCAACCTACATCCCTCGTGTGTGCAGTTCACAATAGGGCTCGTGCTGCTATGAGAATCTAATGCCCACCGCTGATGTGACAGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCT... | TCCTGCAACTAGACAGCCCCATCTGGGGGTGACGGGAGACAGTGACAGATCATCAGGCATCAGATTCTCATAAGGAGCGTGCAACCTACATCCCTCGTGTGTGCAGTTCACAATAGGGCTCGTGCTGCTATGAGAATCTAATGCCCACCGCTGATGTGACAGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCT... | benign | 115,584 |
Is the genetic variant on chromosome 7, position 5973454, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | CGCTGATGTGACAGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCT... | CGCTGATGTGACAGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCT... | pathogenic | 115,599 |
Determine if the mutation at chromosome 7, position 5973466 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1'] | AGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAG... | AGGAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAG... | pathogenic | 115,604 |
Variant at chromosome 7, position 5973468, gene PMS2 (PMS1 homolog 2, mismatch repair system component): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGAT... | GAGGCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGAT... | pathogenic | 115,607 |
A mutation at chromosome position 5973471 on chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCT... | GCGGAGCTCGGGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCT... | pathogenic | 115,609 |
Is the genetic variant on chromosome 7, position 5973481, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCC... | GGTGGTAACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCC... | pathogenic | 115,610 |
The genetic variant at chromosome 7, position 5973487, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | AACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCAT... | AACGCCAGCGACGGGGAGTGGCTATAAATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCAT... | pathogenic | 115,613 |
Variant on chromosome 7, at position 5973514, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCATGATGGCTCACACCTGTAATCCCAGCAC... | ATACAGATGAAGCTTCGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCATGATGGCTCACACCTGTAATCCCAGCAC... | pathogenic | 115,622 |
Variant at chromosome 7, position 5973529, gene PMS2 (PMS1 homolog 2, mismatch repair system component): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGG... | CGCTGGCTTGCCGGCCCCTAACCTGCTGTGCACCCCACTTCCTAATAGGCCATGGACCACTACTGGTCTGTGTCCGGAGTGTTGGAATCCCTGTTCTAGAGACTGCTTGCAATCCTTGACTAGTGGTACCTCCTTCCATCTCCAAAACCAGCAAGACAGCCTCTCTCTGGCCAGCAGGGAAAGGTCTCCACCTTTGAAGGACTCACCCAATGGACTGGGCCCACCCAGACAATCCAGGATAATCTCTCTGTTGCAAGATCCTTAACTCAGCCAGGCATGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGG... | pathogenic | 115,626 |
Regarding the variant at chromosome 7 and position 5977578, affecting gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTCTACCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCT... | TTCTACCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCT... | benign | 115,640 |
Variant in PMS2 (PMS1 homolog 2, mismatch repair system component), chromosome 7, position 5977588—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_4'] | TTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGC... | TTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGC... | pathogenic | 115,646 |
Regarding the variant found on chromosome 7 at position 5977632 in gene PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATC... | TGGAGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATC... | pathogenic | 115,660 |
Mutation at chromosome 7, position 5977635, within PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCA... | AGTGCAGTTGCGTGATGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCA... | pathogenic | 115,661 |
Variant on chromosome 7, at position 5977650, affecting PMS2 (PMS1 homolog 2, mismatch repair system component): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4'] | TGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTT... | TGTTGGCTCATTGTAACCTCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTT... | pathogenic | 115,668 |
Is the genetic variant on chromosome 7, position 5977668, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | TCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCT... | TCGACCTCCCTGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCT... | pathogenic | 115,674 |
Is the chromosome 7, position 5977691 variant in PMS2 (PMS1 homolog 2, mismatch repair system component) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCC... | CCTCCCACCTCAGCCTCCTGAGTAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCC... | pathogenic | 115,687 |
Variant chromosome 7, position 5977713, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCCAGGTGCGGTGGCTCACGCCTGT... | TAGCTGTGACTACAGGCACATGCCACCACACCTGGCTAATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCCAGGTGCGGTGGCTCACGCCTGT... | pathogenic | 115,693 |
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant at chromosome position 5977751 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | ATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCAGATCAT... | ATCTTTTAATTTTTTGTACACATGGGGTCTGCCTGTGTTGCCCAGGCTGGTCTCTTAACTCCTGGCCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGCCACCATGCCTGGCTTCCATCCCACCTTTTAGATGGCAGCTGAGATGCCACCTGCCCAGATGCCATTCCCTGACCACCATCTCACCTGGTCACCATGTTTTTCTCTTGTCATTTCCTGCCCCAAAACGCTGTTTTAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCAGATCAT... | pathogenic | 115,703 |
Is chromosome 7, position 5978580, gene PMS2 (PMS1 homolog 2, mismatch repair system component) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAG... | AACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAG... | benign | 115,707 |
A genetic alteration at chromosome 7, position 5978621, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | AGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCA... | AGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCA... | pathogenic | 115,723 |
Determine whether the variant at chromosome 7, position 5978624, in gene PMS2 (PMS1 homolog 2, mismatch repair system component) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_4'] | GACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGG... | GACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGG... | pathogenic | 115,725 |
Variant in PMS2 (PMS1 homolog 2, mismatch repair system component), chromosome 7, position 5978662—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | CACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGA... | CACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGA... | pathogenic | 115,734 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 5978674, gene PMS2 (PMS1 homolog 2, mismatch repair system component): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'Mismatch_repair_cancer_syndrome_1', 'Mismatch_repair_cancer_syndrome_4'] | CGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATC... | CGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATC... | pathogenic | 115,736 |
A genetic alteration at chromosome 7, position 5978699, in gene PMS2 (PMS1 homolog 2, mismatch repair system component)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTG... | ATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTG... | benign | 115,748 |
Is the variant located on chromosome 7 at position 5981725, gene PMS2 (PMS1 homolog 2, mismatch repair system component), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAACCTTTCGTTATTTTTTTCAAAGATAGAGACAGGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGGCTCAAGCGATCCTTCCACTTCAGCCTCCCAAAGTGCTGGGATTACGAGTGTGAGCCACTGCATCTGGTCCTGAGTGCTGGATAAGACAAACACTGCTCAAGGCAGGAGACAGCTGGTGAGCAAACACAGGCTTGGTCCTGGAGCCAACAGATTACCGGGGAAGAAAGACGTTGAGCAAATACTCAGGCAAGTCGATTATGATGAGAAACGACAGGAAGGTCAGGAAGAAAAAGCAGCCAGTGTCA... | TAACCTTTCGTTATTTTTTTCAAAGATAGAGACAGGGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGGCTCAAGCGATCCTTCCACTTCAGCCTCCCAAAGTGCTGGGATTACGAGTGTGAGCCACTGCATCTGGTCCTGAGTGCTGGATAAGACAAACACTGCTCAAGGCAGGAGACAGCTGGTGAGCAAACACAGGCTTGGTCCTGGAGCCAACAGATTACCGGGGAAGAAAGACGTTGAGCAAATACTCAGGCAAGTCGATTATGATGAGAAACGACAGGAAGGTCAGGAAGAAAAAGCAGCCAGTGTCA... | benign | 115,751 |
Does the chromosome 7 mutation at position 5982841 within gene PMS2 (PMS1 homolog 2, mismatch repair system component) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | GAACAGGGAAGGGATATAAAGTAGCTTACTAAATGTCTATTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTAC... | GAACAGGGAAGGGATATAAAGTAGCTTACTAAATGTCTATTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTAC... | pathogenic | 115,760 |
Does the variant impacting PMS2 (PMS1 homolog 2, mismatch repair system component) on chromosome 7, position 5982874, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_4'] | TGTCTATTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAG... | TGTCTATTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAG... | pathogenic | 115,772 |
Variant at chromosome position 5982880, chromosome 7, gene PMS2 (PMS1 homolog 2, mismatch repair system component): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_4', 'PMS2-related_disorder', 'likely other unspecified diseases'] | TTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGG... | TTATTACCATTGCCTCCTACTGAGAATAAAAACAATTCACGCATTCCACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGCAAACTACACAGGAGAGTACTCAGTAAACTACACAGGAGAGTACTCAGCAAACTACACAGGTTCAGTGGTACATTTCTCCATGTGGGATCTACTTGTTGGGATCTGAGTTTACTTCACTACGTGGTTTAATTTCCCACACGAAAATCCATGACCTCTTCTTCTAACTTTGCTGAAGACAAGACTTTGGTTTTACATGATACTATCACACCTGACCTTTGTGAAGTAGTCAGGG... | pathogenic | 115,774 |
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