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 |
|---|---|---|---|---|---|
A genetic variant at chromosome 1, position 55052386, affecting gene PCSK9 (proprotein convertase subtilisin/kexin type 9)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCTAGTGGTTCCTCTAGGGTGGCGAGCACTGTTTGGTCTCCAGATGTCTTCAGGTCGGAGCTCACAGCGCTCTCAGCCACCCCTTCCCAGTGTAGCACCGGGCACATGGTAGATGCCTATTGATGAGTGAAAGCTCCTAACACACTCAGAGAGCAAGGACTCCGCCTCATCCCACAGCCTGGGAGGAGAGGCAGACTGCCAAGGACCTGCTCAGCATGCTACAGAAGAAACCAAAGTGCCCACGGGACTGATCAGTGGAGCTTCCTGCCGAGACTGGAGGCCTTAGGGCAGGGTAGACAGTGTGTGTGCAGGCTGGGGAC... | TCTAGTGGTTCCTCTAGGGTGGCGAGCACTGTTTGGTCTCCAGATGTCTTCAGGTCGGAGCTCACAGCGCTCTCAGCCACCCCTTCCCAGTGTAGCACCGGGCACATGGTAGATGCCTATTGATGAGTGAAAGCTCCTAACACACTCAGAGAGCAAGGACTCCGCCTCATCCCACAGCCTGGGAGGAGAGGCAGACTGCCAAGGACCTGCTCAGCATGCTACAGAAGAAACCAAAGTGCCCACGGGACTGATCAGTGGAGCTTCCTGCCGAGACTGGAGGCCTTAGGGCAGGGTAGACAGTGTGTGTGCAGGCTGGGGAC... | benign | 9,635 |
Considering the variant on chromosome 1, location 55052746, involving gene PCSK9 (proprotein convertase subtilisin/kexin type 9), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGGGTGGGAGGATGCGGGACTGGGGGCCGACCTTGCCTGAAATTCATGTGGGATCTCAGAGCAGCCACTGAATTGCTCTGTAGGGGGCTAAATAGTGGCCCCCACAGATACACACACCCAGACAGAGCCTGTGAGCCAGACCTTATTTGGAGAAAAGGTCTTTGTAGATGTAATTAAGCATCTCAAGATGGCATCATCTGGATTATGCGGTGGGCTGTAAGTCCTGTGATGTGTCTTTATGAGAGAAAGGCAGAGGGAGATTTGACACACACAGGAGGGGCCACGTGGAGACAGAGGTGGAGATTGGAGAAATGTGGCCA... | TGGGTGGGAGGATGCGGGACTGGGGGCCGACCTTGCCTGAAATTCATGTGGGATCTCAGAGCAGCCACTGAATTGCTCTGTAGGGGGCTAAATAGTGGCCCCCACAGATACACACACCCAGACAGAGCCTGTGAGCCAGACCTTATTTGGAGAAAAGGTCTTTGTAGATGTAATTAAGCATCTCAAGATGGCATCATCTGGATTATGCGGTGGGCTGTAAGTCCTGTGATGTGTCTTTATGAGAGAAAGGCAGAGGGAGATTTGACACACACAGGAGGGGCCACGTGGAGACAGAGGTGGAGATTGGAGAAATGTGGCCA... | benign | 9,652 |
Mutation found at chromosome 1 position 55058666, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,725 |
A genetic alteration at chromosome 1, position 55058666, in gene PCSK9 (proprotein convertase subtilisin/kexin type 9)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,726 |
Evaluate if the mutation on chromosome 1 at position 55058666 in PCSK9 (proprotein convertase subtilisin/kexin type 9) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,727 |
Clinical classification of chromosome 1, position 55058666, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? Disease(s) if pathogenic? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,728 |
A mutation at chromosome position 55058666 on chromosome 1 in gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 55058666, gene PCSK9 (proprotein convertase subtilisin/kexin type 9). What disease(s) is it linked to if pathogenic? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,730 |
Variant in PCSK9 (proprotein convertase subtilisin/kexin type 9), chromosome 1, position 55058666—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,731 |
The chromosome 1, position 55058666 genetic variant in gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,732 |
Does the variant impacting PCSK9 (proprotein convertase subtilisin/kexin type 9) on chromosome 1, position 55058666, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,733 |
A genetic variant on chromosome 1, position 55058666, affects the gene PCSK9 (proprotein convertase subtilisin/kexin type 9). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,734 |
Chromosome 1, position 55058666, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | AAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTTGTTCCACTTCAAGTCTGGAACTTCAAGTCTGTGTGTGTGCGTGCGCGCGCGCGCGTTGGGGGTGGGGGTTGCAGAGCAGATGCGTACCTGACAGCGGTAACCTAGGTCCCC... | benign | 9,735 |
The genetic variant at chromosome 1, position 61406543, affecting gene NFIA (nuclear factor I A): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTGTCAAGTTTATGGATATAAATCAGCTCAAGGGTGAACTATATAACCTTCTAAGTTCTGTGGGCTGATCATTCCACCTCGTGCATTCTAACCCCAGGGCTCATACAGTTAACAAAATAGAAAGACCAAGTAGTTTTAAATAATGATTTGGGGTGGTAGAGAAAGGTAGGGAGATGAAGGGGACAGATGTTTCAGATCAACTAAGTTGATATTTTTGAAAAATACAGTCTTGTAACACTTTAGATCAAGTTGACCAGTACTTGAACTCAAGATGCTGAAAGTACAGTTTATTATGGTTTGTTATTTCTGCAAGTCATTAT... | CTGTCAAGTTTATGGATATAAATCAGCTCAAGGGTGAACTATATAACCTTCTAAGTTCTGTGGGCTGATCATTCCACCTCGTGCATTCTAACCCCAGGGCTCATACAGTTAACAAAATAGAAAGACCAAGTAGTTTTAAATAATGATTTGGGGTGGTAGAGAAAGGTAGGGAGATGAAGGGGACAGATGTTTCAGATCAACTAAGTTGATATTTTTGAAAAATACAGTCTTGTAACACTTTAGATCAAGTTGACCAGTACTTGAACTCAAGATGCTGAAAGTACAGTTTATTATGGTTTGTTATTTCTGCAAGTCATTAT... | benign | 9,948 |
Is the genetic mutation found on chromosome 1 at position 61406556, within the gene NFIA (nuclear factor I A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGATATAAATCAGCTCAAGGGTGAACTATATAACCTTCTAAGTTCTGTGGGCTGATCATTCCACCTCGTGCATTCTAACCCCAGGGCTCATACAGTTAACAAAATAGAAAGACCAAGTAGTTTTAAATAATGATTTGGGGTGGTAGAGAAAGGTAGGGAGATGAAGGGGACAGATGTTTCAGATCAACTAAGTTGATATTTTTGAAAAATACAGTCTTGTAACACTTTAGATCAAGTTGACCAGTACTTGAACTCAAGATGCTGAAAGTACAGTTTATTATGGTTTGTTATTTCTGCAAGTCATTATCTTTCCCACTTAT... | GGATATAAATCAGCTCAAGGGTGAACTATATAACCTTCTAAGTTCTGTGGGCTGATCATTCCACCTCGTGCATTCTAACCCCAGGGCTCATACAGTTAACAAAATAGAAAGACCAAGTAGTTTTAAATAATGATTTGGGGTGGTAGAGAAAGGTAGGGAGATGAAGGGGACAGATGTTTCAGATCAACTAAGTTGATATTTTTGAAAAATACAGTCTTGTAACACTTTAGATCAAGTTGACCAGTACTTGAACTCAAGATGCTGAAAGTACAGTTTATTATGGTTTGTTATTTCTGCAAGTCATTATCTTTCCCACTTAT... | benign | 9,957 |
Chromosome 1, position 62247681, gene KANK4 (KN motif and ankyrin repeat domains 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGCTTGAAAATCTTAGGACAGTTACATAACATCTCCAGGCCTGTTTTCTCATAAGTAAAAAGTGGGGTCGATATCTATCTCACTGGATTACTGAGAGGATTAGAGGTAATGCATGGGAAAGGTTTAGTTCCCAGGAGCACTCTAGAAATATTATTATATCTACTGTAATTATCAGGAACAAGGTCACTTACTGTTGACTTACCTCCAAAGTTTAGGGGTTCACTCATTCATTTGTTGATTGTTTCAATGATATGTGGCGGGCACTCTACTAGGTGTGGGAGCCAGAGACATGGATGCTTCAATGTGACAACAGTGATGAT... | AGCTTGAAAATCTTAGGACAGTTACATAACATCTCCAGGCCTGTTTTCTCATAAGTAAAAAGTGGGGTCGATATCTATCTCACTGGATTACTGAGAGGATTAGAGGTAATGCATGGGAAAGGTTTAGTTCCCAGGAGCACTCTAGAAATATTATTATATCTACTGTAATTATCAGGAACAAGGTCACTTACTGTTGACTTACCTCCAAAGTTTAGGGGTTCACTCATTCATTTGTTGATTGTTTCAATGATATGTGGCGGGCACTCTACTAGGTGTGGGAGCCAGAGACATGGATGCTTCAATGTGACAACAGTGATGAT... | benign | 9,978 |
Does the variant impacting DOCK7 (dedicator of cytokinesis 7) on chromosome 1, position 62455461, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCTGCCCCCTCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTGACTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGTCTGCCTCGGCCTCCCAAAGTGCTGGTTTTTGTTTTTGACTTAAGAGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGCCATTTTGGCTCGCTGCAACCTCCACTTTCCAGGTTCCAGTGATTCTCATGCCTCAGCC... | TGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCCTGCCCCCTCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTGACTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGTCTGCCTCGGCCTCCCAAAGTGCTGGTTTTTGTTTTTGACTTAAGAGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGCCATTTTGGCTCGCTGCAACCTCCACTTTCCAGGTTCCAGTGATTCTCATGCCTCAGCC... | benign | 10,011 |
Variant chromosome 1, position 62504756, gene DOCK7 (dedicator of cytokinesis 7): benign or pathogenic? Disease(s)? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_23'] | TCCCCAAAACAAGGTAAACAGACCATATAGTGTAAGATGAAAACAACCAACACAATTTTTTTTAAAGGGGAGGCAAGAGGGAAAGGCATAACAAAATAATAGAATTCCAGGACGTATGTAATATAATAACAAGTATGAAAGGTTTAATTCAATTAGAGGTTGGATCACAAAGCAAAACTCAACTCTTATGTTGTATATGAGAGGCACATCTAAAATAAAGTGAAAATTAAAGAACAGGCAAAGGCAATTAAATTAAGTTCAAATTAAAAAGAAAGCAGAGGTCAAAATCTTAATACCATAAGAGATGAAATTCAGGCCAA... | TCCCCAAAACAAGGTAAACAGACCATATAGTGTAAGATGAAAACAACCAACACAATTTTTTTTAAAGGGGAGGCAAGAGGGAAAGGCATAACAAAATAATAGAATTCCAGGACGTATGTAATATAATAACAAGTATGAAAGGTTTAATTCAATTAGAGGTTGGATCACAAAGCAAAACTCAACTCTTATGTTGTATATGAGAGGCACATCTAAAATAAAGTGAAAATTAAAGAACAGGCAAAGGCAATTAAATTAAGTTCAAATTAAAAAGAAAGCAGAGGTCAAAATCTTAATACCATAAGAGATGAAATTCAGGCCAA... | pathogenic | 10,040 |
Determine whether the variant at chromosome 1, position 62561740, in gene DOCK7 (dedicator of cytokinesis 7) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGTATCTTCTTCTTTTCCCCTACCTCACTGTGCAGAAAAGAATTAACATAGTGGGCTTAAGACAGCTATTCTTTGAAAGTCCTGTTTACAAGTTTGGCCTTGGGCTAATCACTGGGAACTTGGATTTCAGGGGGGTTCCCATTGACAGAGATGGCTCACTGTGCCTCAAACGTTTGTGCAAAACAATATGGTATAAGCTGAACACCTACTTTCCTTCTGGGAATCTGGAATTTTGGTACATGTTAGGCAAAGGGTGCCTACGTGACAAGTAAAAACCCTGGGAATTGAGTCTGTACTGAACTTCTGTGGCAGACAACATT... | TGTATCTTCTTCTTTTCCCCTACCTCACTGTGCAGAAAAGAATTAACATAGTGGGCTTAAGACAGCTATTCTTTGAAAGTCCTGTTTACAAGTTTGGCCTTGGGCTAATCACTGGGAACTTGGATTTCAGGGGGGTTCCCATTGACAGAGATGGCTCACTGTGCCTCAAACGTTTGTGCAAAACAATATGGTATAAGCTGAACACCTACTTTCCTTCTGGGAATCTGGAATTTTGGTACATGTTAGGCAAAGGGTGCCTACGTGACAAGTAAAAACCCTGGGAATTGAGTCTGTACTGAACTTCTGTGGCAGACAACATT... | benign | 10,066 |
Gene mutation in DOCK7 (dedicator of cytokinesis 7) at chromosome 1, position 62578974—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AATAAAAAAGAAATATTCATTTATTTAAAGAAGTTTCTCAAGTTACAGTATGAAAATTCTCCAAAATGATCTTTTGAGTTTACATTCCATGTATTATTTTGGTTTTAAAATGAGGATATTTACATTTAAAATGAAATTTAAATTTAAATTTAAAAACAGGATAAAAGCTTTTAAGTTTTATGTAAAAGAATTTTAACCACGGGAGAAAATACTTTTCCTTCATTATCTATAAACTTTAAGTAGAAGAAATGGCAAGAGTTTGCTTGGTAAAAACATCTTTATAGTAAAAAACCCATTTCATTCAATCTGGAGAAAGTCAA... | AATAAAAAAGAAATATTCATTTATTTAAAGAAGTTTCTCAAGTTACAGTATGAAAATTCTCCAAAATGATCTTTTGAGTTTACATTCCATGTATTATTTTGGTTTTAAAATGAGGATATTTACATTTAAAATGAAATTTAAATTTAAATTTAAAAACAGGATAAAAGCTTTTAAGTTTTATGTAAAAGAATTTTAACCACGGGAGAAAATACTTTTCCTTCATTATCTATAAACTTTAAGTAGAAGAAATGGCAAGAGTTTGCTTGGTAAAAACATCTTTATAGTAAAAAACCCATTTCATTCAATCTGGAGAAAGTCAA... | benign | 10,070 |
Is the genetic change at chromosome 1, position 62578974, within gene DOCK7 (dedicator of cytokinesis 7) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AATAAAAAAGAAATATTCATTTATTTAAAGAAGTTTCTCAAGTTACAGTATGAAAATTCTCCAAAATGATCTTTTGAGTTTACATTCCATGTATTATTTTGGTTTTAAAATGAGGATATTTACATTTAAAATGAAATTTAAATTTAAATTTAAAAACAGGATAAAAGCTTTTAAGTTTTATGTAAAAGAATTTTAACCACGGGAGAAAATACTTTTCCTTCATTATCTATAAACTTTAAGTAGAAGAAATGGCAAGAGTTTGCTTGGTAAAAACATCTTTATAGTAAAAAACCCATTTCATTCAATCTGGAGAAAGTCAA... | AATAAAAAAGAAATATTCATTTATTTAAAGAAGTTTCTCAAGTTACAGTATGAAAATTCTCCAAAATGATCTTTTGAGTTTACATTCCATGTATTATTTTGGTTTTAAAATGAGGATATTTACATTTAAAATGAAATTTAAATTTAAATTTAAAAACAGGATAAAAGCTTTTAAGTTTTATGTAAAAGAATTTTAACCACGGGAGAAAATACTTTTCCTTCATTATCTATAAACTTTAAGTAGAAGAAATGGCAAGAGTTTGCTTGGTAAAAACATCTTTATAGTAAAAAACCCATTTCATTCAATCTGGAGAAAGTCAA... | benign | 10,071 |
Variant chromosome 1, position 62586673, gene DOCK7 (dedicator of cytokinesis 7): benign or pathogenic? Disease(s)? | benign | TTGACATGTACTTTTAATCATTTAGCAATATGGATTGAGCATTAATTATTTATCCAAAAATGTGACAGGAGTCAAGATATAGACATGAGTAAGACATCGTCCCTGCCCTCAAGGAGCTCACAATCTAATGGGTGAAATTAAGAAATATAGAATCATCAAGTGATAAAGTCCCATGAAAGAAGTGAGAAGATGCTATGGTAGCACCAAAGAGGGAGAGGTCTAACTGTCGGTATAGGATGGGTGCAGCTGGGGCTCTGTAGAGGAGGCCACATATATGATAAGACAAGGAAGAGTTTGTTAGGTAAACAATAAAAAATAGA... | TTGACATGTACTTTTAATCATTTAGCAATATGGATTGAGCATTAATTATTTATCCAAAAATGTGACAGGAGTCAAGATATAGACATGAGTAAGACATCGTCCCTGCCCTCAAGGAGCTCACAATCTAATGGGTGAAATTAAGAAATATAGAATCATCAAGTGATAAAGTCCCATGAAAGAAGTGAGAAGATGCTATGGTAGCACCAAAGAGGGAGAGGTCTAACTGTCGGTATAGGATGGGTGCAGCTGGGGCTCTGTAGAGGAGGCCACATATATGATAAGACAAGGAAGAGTTTGTTAGGTAAACAATAAAAAATAGA... | benign | 10,076 |
Regarding the variant at chromosome 1 and position 62597921, affecting gene DOCK7: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ANGPTL3-related_disorder', 'Developmental_and_epileptic_encephalopathy,_23', 'Familial_hypobetalipoproteinemia_2'] | GAGCTATGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCTAAAAAAGAAAAGAAATTTGGAAATGGTTTATTTTGTATTAACAATTTATAATTTACACTGAAATTTATTATGATAAAACTTTTCCCTGTGTTAAAAAGCTATTAACTTTATGAAAAATTTCTTTTAGGTAAGGTTGATTATATATACCCACACACATACACAGGTTAAAAGTTAGTTTCATGTGACATAATAACTAGCATTTTGAGCACTACCTGTTTGCCCAGCACTGTTCTAAGTGCTCTACATGTATTATTGTTAAATTA... | GAGCTATGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACCCTGTCTCTAAAAAAGAAAAGAAATTTGGAAATGGTTTATTTTGTATTAACAATTTATAATTTACACTGAAATTTATTATGATAAAACTTTTCCCTGTGTTAAAAAGCTATTAACTTTATGAAAAATTTCTTTTAGGTAAGGTTGATTATATATACCCACACACATACACAGGTTAAAAGTTAGTTTCATGTGACATAATAACTAGCATTTTGAGCACTACCTGTTTGCCCAGCACTGTTCTAAGTGCTCTACATGTATTATTGTTAAATTA... | pathogenic | 10,080 |
The chromosome 1, position 62597996 genetic variant in gene DOCK7: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_hypobetalipoproteinemia_2'] | GGAAATGGTTTATTTTGTATTAACAATTTATAATTTACACTGAAATTTATTATGATAAAACTTTTCCCTGTGTTAAAAAGCTATTAACTTTATGAAAAATTTCTTTTAGGTAAGGTTGATTATATATACCCACACACATACACAGGTTAAAAGTTAGTTTCATGTGACATAATAACTAGCATTTTGAGCACTACCTGTTTGCCCAGCACTGTTCTAAGTGCTCTACATGTATTATTGTTAAATTATCATAACACTATGAATTATGTACTATAATTACCCCAGCTTTACAGATGAGGAGACTAATCCATGGGGAGGTTAAG... | GGAAATGGTTTATTTTGTATTAACAATTTATAATTTACACTGAAATTTATTATGATAAAACTTTTCCCTGTGTTAAAAAGCTATTAACTTTATGAAAAATTTCTTTTAGGTAAGGTTGATTATATATACCCACACACATACACAGGTTAAAAGTTAGTTTCATGTGACATAATAACTAGCATTTTGAGCACTACCTGTTTGCCCAGCACTGTTCTAAGTGCTCTACATGTATTATTGTTAAATTATCATAACACTATGAATTATGTACTATAATTACCCCAGCTTTACAGATGAGGAGACTAATCCATGGGGAGGTTAAG... | pathogenic | 10,082 |
Classify the chromosome 1 variant at position 62598676 affecting gene DOCK7 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TTAAGACATCATCTTTAAAAAAAAAATGTTATTAATCTCCTCTTTTTGTTAAATGTATATTATCAAAATTGTTACTAAGCTAACAAACTTCAGAAAAACTTATGATGGGCAAGCTGCTTGTGACATTGAAGGTATTTAAGATTCAATTCTAGTTTGGTCCTAGATGACCACATATCCATTGTTCCTTCAACGAGCACATGGTAAAGAGCCTAGAACACAGAGACACAGAACACAGTGGAGAAAAGGGAGTGAAATGTCTTTAATGACACTTACTATATATGGGATTTTGTGACAATATACAAGGATGGTTAAGACATATA... | TTAAGACATCATCTTTAAAAAAAAAATGTTATTAATCTCCTCTTTTTGTTAAATGTATATTATCAAAATTGTTACTAAGCTAACAAACTTCAGAAAAACTTATGATGGGCAAGCTGCTTGTGACATTGAAGGTATTTAAGATTCAATTCTAGTTTGGTCCTAGATGACCACATATCCATTGTTCCTTCAACGAGCACATGGTAAAGAGCCTAGAACACAGAGACACAGAACACAGTGGAGAAAAGGGAGTGAAATGTCTTTAATGACACTTACTATATATGGGATTTTGTGACAATATACAAGGATGGTTAAGACATATA... | benign | 10,084 |
Chromosome 1, position 62619812, gene DOCK7 (dedicator of cytokinesis 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGCAAATGTGGTTCCCATTATATTTCTGTTTCACAGTGCTGATCTAGATGGTGACAGACTAGAATTTTTAAAAGGTGGAAGTAGTAAGAAGTACAGATCAGGATATATTTTGGAAGTAGAGCCTATGTAACTTGTTGGCTGAATAAATGTGAGGGGTAGGAAAGGAGAGAAATCATAATAATTCCAAAAATTTTGTCCTCAGGAACTTGGTAAATGGTGGTAAAAATATACTAGGATGGGGAAGTCTAGGATGAAATCCAAATTTCTGTTTTAGAATCTTATACCTGAGCTGCCCTACTGAATATCCCAACAGACATGTC... | TGCAAATGTGGTTCCCATTATATTTCTGTTTCACAGTGCTGATCTAGATGGTGACAGACTAGAATTTTTAAAAGGTGGAAGTAGTAAGAAGTACAGATCAGGATATATTTTGGAAGTAGAGCCTATGTAACTTGTTGGCTGAATAAATGTGAGGGGTAGGAAAGGAGAGAAATCATAATAATTCCAAAAATTTTGTCCTCAGGAACTTGGTAAATGGTGGTAAAAATATACTAGGATGGGGAAGTCTAGGATGAAATCCAAATTTCTGTTTTAGAATCTTATACCTGAGCTGCCCTACTGAATATCCCAACAGACATGTC... | benign | 10,092 |
The chromosome 1, position 62625414 genetic variant in gene DOCK7 (dedicator of cytokinesis 7): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCCACTGCTCCATGTTTCCAGCAATCATTTATTTTTAAGTTTTCATAATCATTTTGTGCTACTTCCCAGTTATAGTAACAGTATTCAAAACAGTGTCCAGAACATGGTGATGAATGCTCAAAAAATACTGGTTGGATAAATAGATAGGGGGTAGATGGCTTATTGATTTATGCTTATAATACCAATTTATTGATAAACAGCAGGCTGAAGAAATGAAAAGAAAGCTGTGGAAATACCAACAGAAGTGGTGTAGCAGCTGAAGAAGTAGAAAGAGGGGGAAGTAACATACCTGCAAGGTTGTGTCACTGTAGCAAATCTAT... | TCCACTGCTCCATGTTTCCAGCAATCATTTATTTTTAAGTTTTCATAATCATTTTGTGCTACTTCCCAGTTATAGTAACAGTATTCAAAACAGTGTCCAGAACATGGTGATGAATGCTCAAAAAATACTGGTTGGATAAATAGATAGGGGGTAGATGGCTTATTGATTTATGCTTATAATACCAATTTATTGATAAACAGCAGGCTGAAGAAATGAAAAGAAAGCTGTGGAAATACCAACAGAAGTGGTGTAGCAGCTGAAGAAGTAGAAAGAGGGGGAAGTAACATACCTGCAAGGTTGTGTCACTGTAGCAAATCTAT... | benign | 10,101 |
Considering the variant on chromosome 1, location 63371042, involving gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | AAGGTAACCTCTTTCCTGATTTTTAACACCATAGATTAGTTTTGCCTATTTATGAACCTTTCATGGAACCATATGATATGTATTCTTTGGTGTCCAGCATTTATACTGAAAATTATGTGTGTGAGATTGCACCATGTCATGTGAAAATACAAATCCTGTTAGTGAAAAGAATTAGGAAGCAAATTGAAGGTAATGATACAAACAGTAAGGGGAGGAAGCTTTAGTAGGATAGTCAGGGATGATCTTTCTGAGGGGATGATTTGAGATTTGGCATCAATGACAAAAGATTAGCCATTCCAATCAGTTCTGGAGTTATCCCG... | AAGGTAACCTCTTTCCTGATTTTTAACACCATAGATTAGTTTTGCCTATTTATGAACCTTTCATGGAACCATATGATATGTATTCTTTGGTGTCCAGCATTTATACTGAAAATTATGTGTGTGAGATTGCACCATGTCATGTGAAAATACAAATCCTGTTAGTGAAAAGAATTAGGAAGCAAATTGAAGGTAATGATACAAACAGTAAGGGGAGGAAGCTTTAGTAGGATAGTCAGGGATGATCTTTCTGAGGGGATGATTTGAGATTTGGCATCAATGACAAAAGATTAGCCATTCCAATCAGTTCTGGAGTTATCCCG... | pathogenic | 10,131 |
Variant in ALG6 (ALG6 alpha-1,3-glucosyltransferase), chromosome 1, position 63371056—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | CCTGATTTTTAACACCATAGATTAGTTTTGCCTATTTATGAACCTTTCATGGAACCATATGATATGTATTCTTTGGTGTCCAGCATTTATACTGAAAATTATGTGTGTGAGATTGCACCATGTCATGTGAAAATACAAATCCTGTTAGTGAAAAGAATTAGGAAGCAAATTGAAGGTAATGATACAAACAGTAAGGGGAGGAAGCTTTAGTAGGATAGTCAGGGATGATCTTTCTGAGGGGATGATTTGAGATTTGGCATCAATGACAAAAGATTAGCCATTCCAATCAGTTCTGGAGTTATCCCGTGATGTTTTTATTT... | CCTGATTTTTAACACCATAGATTAGTTTTGCCTATTTATGAACCTTTCATGGAACCATATGATATGTATTCTTTGGTGTCCAGCATTTATACTGAAAATTATGTGTGTGAGATTGCACCATGTCATGTGAAAATACAAATCCTGTTAGTGAAAAGAATTAGGAAGCAAATTGAAGGTAATGATACAAACAGTAAGGGGAGGAAGCTTTAGTAGGATAGTCAGGGATGATCTTTCTGAGGGGATGATTTGAGATTTGGCATCAATGACAAAAGATTAGCCATTCCAATCAGTTCTGGAGTTATCCCGTGATGTTTTTATTT... | pathogenic | 10,132 |
Regarding the variant found on chromosome 1 at position 63396528 in gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | AGTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGCCCACCACCACCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACCTTTATGTCATTTTAAATGATTTAAGAATAAAAGCTACTTAACCAACTTATGAGGCATTACAGAATAGGAGCTAAGAGCATGGATTATGGAGCCAGTCTGCCTGGATTCAAATCCAGACTTTGCTGCTTA... | AGTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGATGCCCACCACCACCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACCTTTATGTCATTTTAAATGATTTAAGAATAAAAGCTACTTAACCAACTTATGAGGCATTACAGAATAGGAGCTAAGAGCATGGATTATGGAGCCAGTCTGCCTGGATTCAAATCCAGACTTTGCTGCTTA... | pathogenic | 10,136 |
A genetic variant at chromosome 1, position 63396573, affecting gene ALG6 (ALG6 alpha-1,3-glucosyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | CACCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACCTTTATGTCATTTTAAATGATTTAAGAATAAAAGCTACTTAACCAACTTATGAGGCATTACAGAATAGGAGCTAAGAGCATGGATTATGGAGCCAGTCTGCCTGGATTCAAATCCAGACTTTGCTGCTTATTACGTGAATGGCCATTGCCTTTGTTTTCCCAGCTATAAAGTGGG... | CACCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCACCTTTATGTCATTTTAAATGATTTAAGAATAAAAGCTACTTAACCAACTTATGAGGCATTACAGAATAGGAGCTAAGAGCATGGATTATGGAGCCAGTCTGCCTGGATTCAAATCCAGACTTTGCTGCTTATTACGTGAATGGCCATTGCCTTTGTTTTCCCAGCTATAAAGTGGG... | pathogenic | 10,138 |
Regarding the variant at chromosome 1 and position 63402344, affecting gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | CGTATATATATGTATATATATATACGTATATATATATATACGTATATATATATGTATATATATATGTATATATATGTATATATATATAAAATATAAAGCAGGAGTATCAACTAATTGCTTTATTCCTACTGATATATTTTGATGCTTTACTTGAAACACTTCTAAGCTATCTTCTCTTATGCCTCTTTGTTCTGCTTTATGAATTTCCATAAGAATGGGGAGCACTGTTATAAATCCTATATTTTTTTCCTCCTAATCCAACCAATGACTTTATTTTTAGTATATATCATTGCATGCTTGCAGCTTACTGTCAATGCCTC... | CGTATATATATGTATATATATATACGTATATATATATATACGTATATATATATGTATATATATATGTATATATATGTATATATATATAAAATATAAAGCAGGAGTATCAACTAATTGCTTTATTCCTACTGATATATTTTGATGCTTTACTTGAAACACTTCTAAGCTATCTTCTCTTATGCCTCTTTGTTCTGCTTTATGAATTTCCATAAGAATGGGGAGCACTGTTATAAATCCTATATTTTTTTCCTCCTAATCCAACCAATGACTTTATTTTTAGTATATATCATTGCATGCTTGCAGCTTACTGTCAATGCCTC... | pathogenic | 10,141 |
Does the genetic variant at chromosome 1, position 63406393, impacting gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | GAGAAATGGCCAATTCTCAAAATATTAATACATTCATATATCCTTCAATATCTTTATTGCTAAAAGGGATGAGGAATGAAGTATCTGTATATATGCTTTGATTTGCAGGGCAAAGTTTATAAATCCAGACTGGATTGCTCTCCATACATCACGTGGATATGAGAGTCAGGCACATAAGCTCTTCATGCGTACAACAGGTAAAAGAGCAATGGGTAGTGAATATAAAATTTGATTTTTTAAAAATTTTGGACAAACTGGTAAAGGTACTATTATTGTTCTTACTGACTTTAAAATTGTGCAATTACACAAACACATATATT... | GAGAAATGGCCAATTCTCAAAATATTAATACATTCATATATCCTTCAATATCTTTATTGCTAAAAGGGATGAGGAATGAAGTATCTGTATATATGCTTTGATTTGCAGGGCAAAGTTTATAAATCCAGACTGGATTGCTCTCCATACATCACGTGGATATGAGAGTCAGGCACATAAGCTCTTCATGCGTACAACAGGTAAAAGAGCAATGGGTAGTGAATATAAAATTTGATTTTTTAAAAATTTTGGACAAACTGGTAAAGGTACTATTATTGTTCTTACTGACTTTAAAATTGTGCAATTACACAAACACATATATT... | pathogenic | 10,146 |
Considering the variant on chromosome 1, location 63407120, involving gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TTTAAGAGCTTTACATGACTTATGCTTTAATGCTTTAAAAGCCCAGTCCTTTTCCTTAATTAGTCTAAATGTAGTCAGAGTTTGTTCTCCTTACAATTCATCCAGTCATGGAATCTTAGGCCCAAGAGATAACCTGTTTTTCCTGTCTTTCCCTCTCCCACACCACTGCCCTTCCCTCTCCAATGCTTTAATCCTTTCTGAACCACATACACACCATGTGATTATTTGGCTTCTGAACCAATATCCATACTTGCAGGGAACTCACAACCTTTAGAGACAGTCTATTCTGTTTTCAGAGAGCTCCAGTCATTAAAAATTAC... | TTTAAGAGCTTTACATGACTTATGCTTTAATGCTTTAAAAGCCCAGTCCTTTTCCTTAATTAGTCTAAATGTAGTCAGAGTTTGTTCTCCTTACAATTCATCCAGTCATGGAATCTTAGGCCCAAGAGATAACCTGTTTTTCCTGTCTTTCCCTCTCCCACACCACTGCCCTTCCCTCTCCAATGCTTTAATCCTTTCTGAACCACATACACACCATGTGATTATTTGGCTTCTGAACCAATATCCATACTTGCAGGGAACTCACAACCTTTAGAGACAGTCTATTCTGTTTTCAGAGAGCTCCAGTCATTAAAAATTAC... | pathogenic | 10,149 |
Variant at chromosome position 63411154, chromosome 1, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | GTACTTTTCTCATTTGCAAAATGTGGATAATAGAAACCCTGACTTTGTAAGCTTAGTTTGATAATTAAATGAATTAATATTTGTAAAGCACTTAAGACAGTTCCTGGGAGACACTAAGCATTATATAGGCATTTGTTGCTATTATTACCATTTTTATAATTTATTTTTGTGGTTCTGAAATTTTACAGTGATTTGTTTAGACATAGGTGTTTTTCACAATTGTTTTGGATATCCAAACCGTATATGGGTCCATACGTTTTGAAGACTCATGTTCTTCTGTTCTGCTAAATTCTGTTATATTATTTCTTTGATGATTTTCT... | GTACTTTTCTCATTTGCAAAATGTGGATAATAGAAACCCTGACTTTGTAAGCTTAGTTTGATAATTAAATGAATTAATATTTGTAAAGCACTTAAGACAGTTCCTGGGAGACACTAAGCATTATATAGGCATTTGTTGCTATTATTACCATTTTTATAATTTATTTTTGTGGTTCTGAAATTTTACAGTGATTTGTTTAGACATAGGTGTTTTTCACAATTGTTTTGGATATCCAAACCGTATATGGGTCCATACGTTTTGAAGACTCATGTTCTTCTGTTCTGCTAAATTCTGTTATATTATTTCTTTGATGATTTTCT... | pathogenic | 10,153 |
Mutation found at chromosome 1 position 63411278, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | ATAGGCATTTGTTGCTATTATTACCATTTTTATAATTTATTTTTGTGGTTCTGAAATTTTACAGTGATTTGTTTAGACATAGGTGTTTTTCACAATTGTTTTGGATATCCAAACCGTATATGGGTCCATACGTTTTGAAGACTCATGTTCTTCTGTTCTGCTAAATTCTGTTATATTATTTCTTTGATGATTTTCTCACTTTTTTCTTTCTTGAGCCTATTAGTCAGATGTTTGATCTTTTGCATCCCTTTCTCTTTTGTTTTATGGGTTGGGTTATCTTGAGTTTATCCCCAACACTTCTATCGAATTTCATTTGTATT... | ATAGGCATTTGTTGCTATTATTACCATTTTTATAATTTATTTTTGTGGTTCTGAAATTTTACAGTGATTTGTTTAGACATAGGTGTTTTTCACAATTGTTTTGGATATCCAAACCGTATATGGGTCCATACGTTTTGAAGACTCATGTTCTTCTGTTCTGCTAAATTCTGTTATATTATTTCTTTGATGATTTTCTCACTTTTTTCTTTCTTGAGCCTATTAGTCAGATGTTTGATCTTTTGCATCCCTTTCTCTTTTGTTTTATGGGTTGGGTTATCTTGAGTTTATCCCCAACACTTCTATCGAATTTCATTTGTATT... | pathogenic | 10,154 |
The genetic variant at chromosome 1, position 63411926, affecting gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | CACTGGATAGTTTAGTTCATTTCTTCAGAAAAATATGCCCTCTTTTGTTGCCTTGGGGTAAATGTTTGGCTGCCAGATAATCTTTGCATGGGAGTGGGGTAAGATTTGACTTCTACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATAT... | CACTGGATAGTTTAGTTCATTTCTTCAGAAAAATATGCCCTCTTTTGTTGCCTTGGGGTAAATGTTTGGCTGCCAGATAATCTTTGCATGGGAGTGGGGTAAGATTTGACTTCTACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATAT... | pathogenic | 10,160 |
Variant chromosome 1, position 63412031, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? Disease(s)? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TTGACTTCTACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATATGTTGAAATCTTTATCTATTATAACAGATCCTCCCATTCTCTTTATGGCTGTGAATTTATACTTTTTGTTTGTTTGTTTTTGTTTTCTTGCTCTCTTGCCCAAGCT... | TTGACTTCTACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATATGTTGAAATCTTTATCTATTATAACAGATCCTCCCATTCTCTTTATGGCTGTGAATTTATACTTTTTGTTTGTTTGTTTTTGTTTTCTTGCTCTCTTGCCCAAGCT... | pathogenic | 10,163 |
Is the variant located on chromosome 1 at position 63412039, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATATGTTGAAATCTTTATCTATTATAACAGATCCTCCCATTCTCTTTATGGCTGTGAATTTATACTTTTTGTTTGTTTGTTTTTGTTTTCTTGCTCTCTTGCCCAAGCTGGAGTGCA... | TACCTCTAGGGATTTTCAGTTAATCTCTTGTTTTCTTCTGCACATACTACTCAAAGACTGTAACCTACTTGGTGTTTCCAAAGTTCTCTAGGGTCTTGCAGGGTGGATTGGCTTTTTGCTACCCTGAGTCTCCTCTATGTATATACTCTAAGCTGTGGCTTCCTTCATCCTATTTTATTTGTTATCACTTCTGTCTTCCAGAAATATGTTGAAATCTTTATCTATTATAACAGATCCTCCCATTCTCTTTATGGCTGTGAATTTATACTTTTTGTTTGTTTGTTTTTGTTTTCTTGCTCTCTTGCCCAAGCTGGAGTGCA... | pathogenic | 10,164 |
Mutation at chromosome 1, position 63414136, within ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TCTGTTACTGTACCTTACCTGTGACCTTTAGGGGTTTCATGTAGAAGGTACAAGGAATAGGAACTTCAGCTACTTTCCTCCTGTAATCATTCCTTGCCAGTTATTGCTTGATTGATTAATTGATTGGTTGAGACAGGATCTTGCTGTTGCCCAGGCTGGAGGGCAGTGGCTATTCGCAGGGGTAATCATGGTGCACTACAGCCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTTGCCTCCCAAGTAGCTGGGACAACAGGGTGTGTGCACCTTGCTAGTTATTTAATCCATTATATAACCCCTAGCTCAGGTGGCA... | TCTGTTACTGTACCTTACCTGTGACCTTTAGGGGTTTCATGTAGAAGGTACAAGGAATAGGAACTTCAGCTACTTTCCTCCTGTAATCATTCCTTGCCAGTTATTGCTTGATTGATTAATTGATTGGTTGAGACAGGATCTTGCTGTTGCCCAGGCTGGAGGGCAGTGGCTATTCGCAGGGGTAATCATGGTGCACTACAGCCTTGAACTCCTGGGCTCAAGTGATTCTCCTGCCTTTGCCTCCCAAGTAGCTGGGACAACAGGGTGTGTGCACCTTGCTAGTTATTTAATCCATTATATAACCCCTAGCTCAGGTGGCA... | pathogenic | 10,167 |
A genetic alteration at chromosome 1, position 63419356, in gene ALG6 (ALG6 alpha-1,3-glucosyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGGTAACTTTAGCAGTGTTAGAGATGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTG... | GGGTAACTTTAGCAGTGTTAGAGATGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTG... | benign | 10,179 |
Evaluate this variant at chromosome 1, position 63419387, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTATATTTAA... | TTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTATATTTAA... | pathogenic | 10,183 |
Evaluate if the mutation on chromosome 1 at position 63419396 in ALG6 (ALG6 alpha-1,3-glucosyltransferase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTATATTTAATTTTTCAGG... | TATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTATATTTAATTTTTCAGG... | pathogenic | 10,184 |
Regarding the variant found on chromosome 1 at position 63428934 in gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TGAATGCATAAATGGGAAAGAATTAAACCAGAAAGAGAAAACAGTATTTATTGAGCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGG... | TGAATGCATAAATGGGAAAGAATTAAACCAGAAAGAGAAAACAGTATTTATTGAGCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGG... | pathogenic | 10,193 |
Determine whether the variant at chromosome 1, position 63428964, in gene ALG6 (ALG6 alpha-1,3-glucosyltransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | GAAAGAGAAAACAGTATTTATTGAGCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTG... | GAAAGAGAAAACAGTATTTATTGAGCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTG... | pathogenic | 10,194 |
Clinical significance of chromosome 1, position 63428988, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | GCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCT... | GCACCTTCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCT... | pathogenic | 10,195 |
A genetic variant on chromosome 1, position 63428994, affects the gene ALG6 (ALG6 alpha-1,3-glucosyltransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | TCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCA... | TCAATGAGCTTGCTATTAATATGCGTCCATTCTCAAGCAGTGAAATGGAAAGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCA... | pathogenic | 10,196 |
Is the genetic variant on chromosome 1, position 63429044, gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C', 'ALG6-related_disorder'] | AGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGCGCCCGGCCTAG... | AGTCCTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGCGCCCGGCCTAG... | pathogenic | 10,197 |
Regarding the variant found on chromosome 1 at position 63429048 in gene ALG6 (ALG6 alpha-1,3-glucosyltransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ALG6-congenital_disorder_of_glycosylation_1C'] | CTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGCGCCCGGCCTAGTAAT... | CTCTAGTAATTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCGTGTCCAGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGAACTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGCGCCCGGCCTAGTAAT... | pathogenic | 10,198 |
A genetic variant at chromosome 1, position 63593512, affecting gene PGM1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['PGM1-congenital_disorder_of_glycosylation'] | TGAAAAGCTCCATCATATTTCCAAAGATACTGAAGAATATAGAAAGGGCATGAGATCTGAATTTGGGCCCGTGACTTTACAAGTTATCATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCC... | TGAAAAGCTCCATCATATTTCCAAAGATACTGAAGAATATAGAAAGGGCATGAGATCTGAATTTGGGCCCGTGACTTTACAAGTTATCATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCC... | pathogenic | 10,212 |
Classify the chromosome 1 variant at position 63593574 affecting gene PGM1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['PGM1-congenital_disorder_of_glycosylation'] | TTGGGCCCGTGACTTTACAAGTTATCATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCA... | TTGGGCCCGTGACTTTACAAGTTATCATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCA... | pathogenic | 10,214 |
For chromosome 1, position 63593645, gene PGM1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['PGM1-congenital_disorder_of_glycosylation'] | TTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCACCGAAACTCATCTATAGTGACTACATCAACACACTGTATCTACATAGCATGTACTATATGAGCATGTATAT... | TTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCACCGAAACTCATCTATAGTGACTACATCAACACACTGTATCTACATAGCATGTACTATATGAGCATGTATAT... | pathogenic | 10,217 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 63638736, gene PGM1 (phosphoglucomutase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['PGM1-congenital_disorder_of_glycosylation'] | TGTTCACCATCTGGACTCTGCCTGACCATAGCGTGCCTGGCACATAGTAGGACAAACACACACACACACATACACGTATAATTTTTTAAAGTTAATGAATAGTTGAGTGTTAATGAATAACAATGGAAGTACTCAAGACATCATTCTGGAGGATCACTTTTCTTTTGCAGTGTGCACAGAGTGTGGGTGAAAGAGCAGTTTGAAGTAATTTTAGAGTTTCAACGACTGGATCGCTCTTGCCCACACAAACACAGTGAATGTTTATATATCACTTCATTGTACAAAGGCTTTGAGGTGGCTTGTTAGATCACACTTAAAAA... | TGTTCACCATCTGGACTCTGCCTGACCATAGCGTGCCTGGCACATAGTAGGACAAACACACACACACACATACACGTATAATTTTTTAAAGTTAATGAATAGTTGAGTGTTAATGAATAACAATGGAAGTACTCAAGACATCATTCTGGAGGATCACTTTTCTTTTGCAGTGTGCACAGAGTGTGGGTGAAAGAGCAGTTTGAAGTAATTTTAGAGTTTCAACGACTGGATCGCTCTTGCCCACACAAACACAGTGAATGTTTATATATCACTTCATTGTACAAAGGCTTTGAGGTGGCTTGTTAGATCACACTTAAAAA... | pathogenic | 10,254 |
Regarding the variant found on chromosome 1 at position 63638745 in gene PGM1 (phosphoglucomutase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['PGM1-congenital_disorder_of_glycosylation'] | TCTGGACTCTGCCTGACCATAGCGTGCCTGGCACATAGTAGGACAAACACACACACACACATACACGTATAATTTTTTAAAGTTAATGAATAGTTGAGTGTTAATGAATAACAATGGAAGTACTCAAGACATCATTCTGGAGGATCACTTTTCTTTTGCAGTGTGCACAGAGTGTGGGTGAAAGAGCAGTTTGAAGTAATTTTAGAGTTTCAACGACTGGATCGCTCTTGCCCACACAAACACAGTGAATGTTTATATATCACTTCATTGTACAAAGGCTTTGAGGTGGCTTGTTAGATCACACTTAAAAAGTTGAAAAA... | TCTGGACTCTGCCTGACCATAGCGTGCCTGGCACATAGTAGGACAAACACACACACACACATACACGTATAATTTTTTAAAGTTAATGAATAGTTGAGTGTTAATGAATAACAATGGAAGTACTCAAGACATCATTCTGGAGGATCACTTTTCTTTTGCAGTGTGCACAGAGTGTGGGTGAAAGAGCAGTTTGAAGTAATTTTAGAGTTTCAACGACTGGATCGCTCTTGCCCACACAAACACAGTGAATGTTTATATATCACTTCATTGTACAAAGGCTTTGAGGTGGCTTGTTAGATCACACTTAAAAAGTTGAAAAA... | pathogenic | 10,255 |
A genetic alteration at chromosome 1, position 63651763, in gene PGM1 (phosphoglucomutase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Inborn_genetic_diseases', 'PGM1-congenital_disorder_of_glycosylation'] | TCTCTCACGTTACTGTTTTGTGGAAGGAATAAGTAATAACTACCTGACACCACACAGTAGCCCTGGGAACCAAGGCAAAAAAATCCCTACTTTATAACAGACAGAAAAACCTGGTCATTCAGAACAGCAGTCATGAACTGTCTAGAACCTAGAGTATCATAAAAACAAGGCCATGTCTGTTTTTGTGCCCTAAGCACCCAACTCATAGTAGAGACTGCATAAATACGTTTTGAACCGATAAATGAATGAGTTAACAGGTGAACAATAGCCAGAGTAGAATAAGGTTAGGAGGGGTTGTTCAGAGAAAGGGTCACACCCTT... | TCTCTCACGTTACTGTTTTGTGGAAGGAATAAGTAATAACTACCTGACACCACACAGTAGCCCTGGGAACCAAGGCAAAAAAATCCCTACTTTATAACAGACAGAAAAACCTGGTCATTCAGAACAGCAGTCATGAACTGTCTAGAACCTAGAGTATCATAAAAACAAGGCCATGTCTGTTTTTGTGCCCTAAGCACCCAACTCATAGTAGAGACTGCATAAATACGTTTTGAACCGATAAATGAATGAGTTAACAGGTGAACAATAGCCAGAGTAGAATAAGGTTAGGAGGGGTTGTTCAGAGAAAGGGTCACACCCTT... | pathogenic | 10,266 |
Evaluate this variant at chromosome 1, position 65364614, gene DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GCCAACAGCTTTATATGCATTTATTTAATCTTTCCCTATGGAGTAGGCACAATTTTTATCCCTATTTTACAGATGGGAAGAAAGAGATTTAGAAAGACTGACTTCCAGGGTCACACAGCTAGGGGTAGCAAAGCTGGGCAGGAACCCAGGTGAGAATGACTCACGCTCTTGACTGCTAGGCCTTAAAGCCCTACCTGGCCACTGTTCACATTAACCACCTCCTCTACACAGATTCCTGCTTCCTTCCTGTATCAGCCTGCATAGGTTAGGTTGTGCTTTGGTTATGAACATTCCCAAAAGATCAGCGGCTTCTATTAACA... | GCCAACAGCTTTATATGCATTTATTTAATCTTTCCCTATGGAGTAGGCACAATTTTTATCCCTATTTTACAGATGGGAAGAAAGAGATTTAGAAAGACTGACTTCCAGGGTCACACAGCTAGGGGTAGCAAAGCTGGGCAGGAACCCAGGTGAGAATGACTCACGCTCTTGACTGCTAGGCCTTAAAGCCCTACCTGGCCACTGTTCACATTAACCACCTCCTCTACACAGATTCCTGCTTCCTTCCTGTATCAGCCTGCATAGGTTAGGTTGTGCTTTGGTTATGAACATTCCCAAAAGATCAGCGGCTTCTATTAACA... | benign | 10,340 |
Is the genetic change at chromosome 1, position 65364615, within gene DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCAACAGCTTTATATGCATTTATTTAATCTTTCCCTATGGAGTAGGCACAATTTTTATCCCTATTTTACAGATGGGAAGAAAGAGATTTAGAAAGACTGACTTCCAGGGTCACACAGCTAGGGGTAGCAAAGCTGGGCAGGAACCCAGGTGAGAATGACTCACGCTCTTGACTGCTAGGCCTTAAAGCCCTACCTGGCCACTGTTCACATTAACCACCTCCTCTACACAGATTCCTGCTTCCTTCCTGTATCAGCCTGCATAGGTTAGGTTGTGCTTTGGTTATGAACATTCCCAAAAGATCAGCGGCTTCTATTAACAA... | CCAACAGCTTTATATGCATTTATTTAATCTTTCCCTATGGAGTAGGCACAATTTTTATCCCTATTTTACAGATGGGAAGAAAGAGATTTAGAAAGACTGACTTCCAGGGTCACACAGCTAGGGGTAGCAAAGCTGGGCAGGAACCCAGGTGAGAATGACTCACGCTCTTGACTGCTAGGCCTTAAAGCCCTACCTGGCCACTGTTCACATTAACCACCTCCTCTACACAGATTCCTGCTTCCTTCCTGTATCAGCCTGCATAGGTTAGGTTGTGCTTTGGTTATGAACATTCCCAAAAGATCAGCGGCTTCTATTAACAA... | benign | 10,341 |
Determine whether the variant at chromosome 1, position 65570563, in gene LEPR (leptin receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Obesity_due_to_leptin_receptor_gene_deficiency'] | TGTGTGTGTGTGCATGTGCATGTGTGTGAATATGCCACTTTTTTTAATGCAGTCATTCATTGAGGGACACTTAGGTTGATTCCATGACTTTGCTATTGTGAATAGTGCTGTGACAAACATATGACCGCAGGTGTCTTTTTGTTACAATGATTTCTTTTCCTTTGAGTAGATACTTAGTAGTGGGATTGCTGGATTGAATGATAGTTCTACTTTTAGTTCTTTGAGAAATCTACACATTGTTTTCCATAGAGGTTGTACAAATTTACATTGCCACCAACAGTGAATAAGCATTTCCTTTTCTCTGCATCCTCACCAACATC... | TGTGTGTGTGTGCATGTGCATGTGTGTGAATATGCCACTTTTTTTAATGCAGTCATTCATTGAGGGACACTTAGGTTGATTCCATGACTTTGCTATTGTGAATAGTGCTGTGACAAACATATGACCGCAGGTGTCTTTTTGTTACAATGATTTCTTTTCCTTTGAGTAGATACTTAGTAGTGGGATTGCTGGATTGAATGATAGTTCTACTTTTAGTTCTTTGAGAAATCTACACATTGTTTTCCATAGAGGTTGTACAAATTTACATTGCCACCAACAGTGAATAAGCATTTCCTTTTCTCTGCATCCTCACCAACATC... | pathogenic | 10,383 |
Is the chromosome 1, position 65637072 variant in LEPR (leptin receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATATTTATTCCTTTATGCTTTTAATCACTAACATATTTTACTTAAGAGTATAAAACTATGCTAAATAAATTGTATTGTATATGGAATATGCTTGCCATTATGAAGAACAGCTGGGTATACCATTATTTCAAGTAATAAATCTGAATTCTATTAGTTTAAAAATTGTAAAATTCAAGTTAAATGACGTGTATGATATATAAGCTGAACACATTTTCTATAGCCCTTAATTTAGTTGTGTTAATTTTTCAAGGTGATGTATCAACAGCTTTTTTTATTTTGCATTTGTTTTTTCAATGTGTTTACATTGTATGAATTGAGCT... | ATATTTATTCCTTTATGCTTTTAATCACTAACATATTTTACTTAAGAGTATAAAACTATGCTAAATAAATTGTATTGTATATGGAATATGCTTGCCATTATGAAGAACAGCTGGGTATACCATTATTTCAAGTAATAAATCTGAATTCTATTAGTTTAAAAATTGTAAAATTCAAGTTAAATGACGTGTATGATATATAAGCTGAACACATTTTCTATAGCCCTTAATTTAGTTGTGTTAATTTTTCAAGGTGATGTATCAACAGCTTTTTTTATTTTGCATTTGTTTTTTCAATGTGTTTACATTGTATGAATTGAGCT... | benign | 10,415 |
Gene mutation in SLC35D1 (solute carrier family 35 member D1) at chromosome 1, position 67050506—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGT... | TGACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGT... | benign | 10,440 |
Variant in SLC35D1 (solute carrier family 35 member D1), chromosome 1, position 67050508—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGTAT... | ACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGTAT... | benign | 10,441 |
A mutation at chromosome position 67050508 on chromosome 1 in gene SLC35D1 (solute carrier family 35 member D1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGTAT... | ACATAGAAGGAAAAGCAGTTAGCTATATAGCCAATTTCTAGTAACCAATTACGCCACTCTCTTTTTTTTAGAATGAAATTTTACTTGGAGATTGGACTTGTAAAACAGGACTGGACTGATAATATTTTCTTCCACCTATACTACAGGAATGTGATGAAGGTAAATGAGTCAATTCAAGAAGTACACTGGAACTCCTGGATGGAAAACATATGTCTGGCAGAATGTGTGGCATTAGTAAATACATATATGCATGCCCTGGGCTGATTAAAATGTTGTAGAAGACTTCTAGCATCATTATAATTTTCTAGGTCTGTGGGTAT... | benign | 10,442 |
For chromosome 1, position 67093186, gene C1orf141 (chromosome 1 open reading frame 141): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AAAAGAAAGAAAAGAAGTCACATTTACATTAAGAGCAGGCTTACAGGGAAAGGGAGGGAGTAGAAAGGAAATTTCTATTGAATGCTACAAGGCTCAAAGTACTAGATGCTATTTTATTTAATCCTGAGAATAGCAGTGTAATAAATTATTGTTGTCTCCATTTTAAGGTGGAGATACAATTTAACTGAAGTGCAGATAATTTACATTATTTGCCCCAATTTGCTCCTATCTGCCCTATTCCAAGGCCCAAACTTGCTTCTCTGATACTAAGTATCAACAGAAACTACCATCATGACTAGTACTAATATTAGGTATATTTT... | AAAAGAAAGAAAAGAAGTCACATTTACATTAAGAGCAGGCTTACAGGGAAAGGGAGGGAGTAGAAAGGAAATTTCTATTGAATGCTACAAGGCTCAAAGTACTAGATGCTATTTTATTTAATCCTGAGAATAGCAGTGTAATAAATTATTGTTGTCTCCATTTTAAGGTGGAGATACAATTTAACTGAAGTGCAGATAATTTACATTATTTGCCCCAATTTGCTCCTATCTGCCCTATTCCAAGGCCCAAACTTGCTTCTCTGATACTAAGTATCAACAGAAACTACCATCATGACTAGTACTAATATTAGGTATATTTT... | benign | 10,450 |
Clinical significance of chromosome 1, position 68429787, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20'] | TTGTTATTTAAAAATAACTACTTATTAACAGGTTAATTTATATTAATTCAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGT... | TTGTTATTTAAAAATAACTACTTATTAACAGGTTAATTTATATTAATTCAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGT... | pathogenic | 10,490 |
Does the variant impacting RPE65 (retinoid isomerohydrolase RPE65) on chromosome 1, position 68429872, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | TATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTG... | TATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTG... | pathogenic | 10,495 |
Classify the chromosome 1 variant at position 68429917 affecting gene RPE65 (retinoid isomerohydrolase RPE65) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['RPE65-related_recessive_retinopathy'] | TTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGG... | TTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGG... | pathogenic | 10,498 |
Considering the genetic mutation at chromosome 1, position 68429928, impacting RPE65 (retinoid isomerohydrolase RPE65): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_2'] | TCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGGGAATCATTGAT... | TCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGGGAATCATTGAT... | pathogenic | 10,502 |
Assess the variant on chromosome 1, position 68431154, impacting RPE65 (retinoid isomerohydrolase RPE65): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | TAATATATAACTTAATCTCTGAGATGTTATTTGGTTGAGAGGCCTCAGTTGATTAAACACAGATTTTCTTATTATAAAATCAGAAATAATAGTACTTGCTTGTAATAAACGGAAAGGTTAACATTCATAAGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGT... | TAATATATAACTTAATCTCTGAGATGTTATTTGGTTGAGAGGCCTCAGTTGATTAAACACAGATTTTCTTATTATAAAATCAGAAATAATAGTACTTGCTTGTAATAAACGGAAAGGTTAACATTCATAAGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGT... | pathogenic | 10,514 |
Gene mutation in RPE65 (retinoid isomerohydrolase RPE65) at chromosome 1, position 68431283—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | AGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGTTAAAAATATAATTGGAGCAGATAGGTACCTAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCT... | AGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGTTAAAAATATAATTGGAGCAGATAGGTACCTAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCT... | pathogenic | 10,519 |
Does the variant on chromosome 1 at location 68431316 affecting gene RPE65 (retinoid isomerohydrolase RPE65) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | AAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGTTAAAAATATAATTGGAGCAGATAGGTACCTAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACG... | AAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATAATATAAATCAAGTGTAGAGGACTTTGGTTTTTAAATGTTAAAAATATAATTGGAGCAGATAGGTACCTAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACG... | pathogenic | 10,521 |
Variant on chromosome 1, at position 68431503, affecting RPE65 (retinoid isomerohydrolase RPE65): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_20'] | TAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATG... | TAAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATG... | pathogenic | 10,539 |
A genetic variant on chromosome 1, position 68431504, affects the gene RPE65 (retinoid isomerohydrolase RPE65). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy'] | AAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATGC... | AAAATATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATGC... | pathogenic | 10,540 |
Evaluate if the mutation on chromosome 1 at position 68431508 in RPE65 (retinoid isomerohydrolase RPE65) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['RPE65-related_recessive_retinopathy'] | TATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATGCTCAA... | TATGCTCTTATAATAGGAATTAAAAGCCATTTAGTAAGTCCACATTCATTTCCTATTTGATTGCTAAATATTTAAGAGTTTTTCAGTTATGGCCTGTCTCACAGAGGAAGTATGATTATCTAAATACGTACTTTTTTTTTTAAATAAAGGAATTGCTTGCTCAACTCAGTGCTTTCTGTAAAACATTGCAAAATTGTGCGCATCTGCAAGTTAAAACCATGACATATAGCAGGCTAAAATTGAACAGAATTTGATTGCAGACCTGAAGCTGATTTTCTCAGTTTTGCTACCAAAAACATATCTTGCTGGAGTATGCTCAA... | pathogenic | 10,541 |
Considering the genetic mutation at chromosome 1, position 68438199, impacting RPE65 (retinoid isomerohydrolase RPE65): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['RPE65-related_recessive_retinopathy'] | GTGATTTTTACCATTATTAGCGAAGTAAGAGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTA... | GTGATTTTTACCATTATTAGCGAAGTAAGAGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTA... | pathogenic | 10,548 |
Is chromosome 1, position 68438247, gene RPE65 (retinoid isomerohydrolase RPE65) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'RPE65-related_disorder', 'RPE65-related_recessive_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_20'] | ACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGG... | ACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGG... | pathogenic | 10,555 |
Determine whether the variant at chromosome 1, position 68438247, in gene RPE65 (retinoid isomerohydrolase RPE65) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | ACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGG... | ACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGG... | pathogenic | 10,556 |
Considering the variant on chromosome 1, location 68438255, involving gene RPE65 (retinoid isomerohydrolase RPE65), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | ATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAAT... | ATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAAT... | pathogenic | 10,557 |
Chromosome 1, position 68438946, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | AACTGCTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTAT... | AACTGCTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTAT... | pathogenic | 10,566 |
Variant at chromosome 1, position 68438977, gene RPE65 (retinoid isomerohydrolase RPE65): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_20'] | CTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTC... | CTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTC... | pathogenic | 10,571 |
A genetic variant at chromosome 1, position 68439046, affecting gene RPE65 (retinoid isomerohydrolase RPE65)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | TCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAA... | TCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAA... | pathogenic | 10,580 |
Is the variant located on chromosome 1 at position 68439053, gene RPE65 (retinoid isomerohydrolase RPE65), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | ATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCC... | ATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCC... | pathogenic | 10,581 |
Variant in RPE65 (retinoid isomerohydrolase RPE65), chromosome 1, position 68439053—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20'] | ATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCC... | ATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCC... | pathogenic | 10,582 |
Chromosome 1, position 68439080, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy'] | TCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTG... | TCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTG... | pathogenic | 10,584 |
Chromosome 1, position 68439189, gene RPE65 (retinoid isomerohydrolase RPE65): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | AAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTA... | AAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTA... | pathogenic | 10,586 |
The mutation impacting RPE65 (retinoid isomerohydrolase RPE65) on chromosome 1 at position 68439240: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['RPE65-related_recessive_retinopathy'] | CCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTT... | CCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTT... | pathogenic | 10,590 |
Is the variant located on chromosome 1 at position 68439263, gene RPE65 (retinoid isomerohydrolase RPE65), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['RPE65-related_recessive_retinopathy'] | TATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAG... | TATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAG... | pathogenic | 10,591 |
Classify the chromosome 1 variant at position 68439612 affecting gene RPE65 (retinoid isomerohydrolase RPE65) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20'] | ATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAAACTATTTATATTATTGATAAAGTATCATAGGAATCAGTGGA... | ATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAAACTATTTATATTATTGATAAAGTATCATAGGAATCAGTGGA... | pathogenic | 10,604 |
Variant at chromosome position 68439683, chromosome 1, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAAACTATTTATATTATTGATAAAGTATCATAGGAATCAGTGGATCTGCACTATTCACCGAGGAAGTATATTTTAAAGACAATTTTGTAAATACAAGAACGGCAGATTTAGAATT... | AGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAAACTATTTATATTATTGATAAAGTATCATAGGAATCAGTGGATCTGCACTATTCACCGAGGAAGTATATTTTAAAGACAATTTTGTAAATACAAGAACGGCAGATTTAGAATT... | benign | 10,607 |
A genetic variant at chromosome 1, position 68440856, affecting gene RPE65 (retinoid isomerohydrolase RPE65)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['RPE65-related_recessive_retinopathy'] | CAATTACATTTTTGACTCTCACATAACTCTTGCTGTTTTAGATGTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAA... | CAATTACATTTTTGACTCTCACATAACTCTTGCTGTTTTAGATGTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAA... | pathogenic | 10,610 |
Variant chromosome 1, position 68440879, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? Disease(s)? | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | TAACTCTTGCTGTTTTAGATGTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTT... | TAACTCTTGCTGTTTTAGATGTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTT... | pathogenic | 10,613 |
Classify the chromosome 1 variant at position 68440899 affecting gene RPE65 (retinoid isomerohydrolase RPE65) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['RPE65-related_recessive_retinopathy'] | GTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGA... | GTGATTCAGATTGAGTGCAGCAGCTCTGTAAAAACCCCGTAATTTCCAGGAACAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGA... | pathogenic | 10,615 |
Variant on chromosome 1, at position 68444529, affecting RPE65 (retinoid isomerohydrolase RPE65): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | GATTCCCTAGGTGGAGTAATACTTTCATATTTATATTTTAAAAAATTGCTACTGCTGCCTTAAATAAATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAG... | GATTCCCTAGGTGGAGTAATACTTTCATATTTATATTTTAAAAAATTGCTACTGCTGCCTTAAATAAATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAG... | pathogenic | 10,627 |
Classify the chromosome 1 variant at position 68444584 affecting gene RPE65 (retinoid isomerohydrolase RPE65) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | TGCCTTAAATAAATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTA... | TGCCTTAAATAAATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTA... | pathogenic | 10,630 |
Is the genetic mutation found on chromosome 1 at position 68444664, within the gene RPE65 (retinoid isomerohydrolase RPE65), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20'] | ACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAG... | ACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAG... | pathogenic | 10,642 |
Does the genetic variant at chromosome 1, position 68444664, impacting gene RPE65 (retinoid isomerohydrolase RPE65), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinal_dystrophy', 'Retinitis_pigmentosa_20'] | ACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAG... | ACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAG... | pathogenic | 10,643 |
Chromosome 1, position 68444817, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leber_congenital_amaurosis', 'Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | AGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTA... | AGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTATGTTAAGACATAGTAAATAGTCTGTTGAGAATTATAGATCAGCTTGTGCTATTGAGACTCAATGTTGAGACTATTTTTTTTCTTCTTATTTTTACCAGTACTGCATTTGTGGTTCTGGCTTTTAGTTTCACCTCTTGGTCTCCCAGCTATACTGTATCTCTTTTGCCTTCCCGTACAGCCCACACATGGCTCCCCAAATAAACATCTGAAAATATAGCCCTA... | pathogenic | 10,649 |
A genetic variant at chromosome 1, position 68446816, affecting gene RPE65 (retinoid isomerohydrolase RPE65)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy'] | TCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCT... | TCAGTAACCTGGAAAATATATTCTTGCAGGGATCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCT... | pathogenic | 10,665 |
Gene mutation in RPE65 (retinoid isomerohydrolase RPE65) at chromosome 1, position 68446848—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['RPE65-related_recessive_retinopathy'] | TCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACCTCACAGATGAGGAAATTGAGGTTC... | TCTGGGAAAGCACAGGTGCCAAATTCTGTTATGACGATCCTTTTCTCAGTCATTGCCCGTACGTAAGCATCAGTGCGGATGAACCTGAAGGACATTGAAACATAGGGAAGAGTATAGACAGGAGCAATCCGTACAGCCCATGTGGAGCTTAGAATGGCCATTCTATGTGTCCTCATCAAGTCACAATCATAAATGCACAACATGAAGAATAAAGGGTTTTATTAGCTCACTTTCTTGGGGTGACCAAGCAGGGCAGACACAATGTCCCTTGAGTTTACGTTTTTATCTTTTAAACCTCACAGATGAGGAAATTGAGGTTC... | pathogenic | 10,672 |
Clinical significance of chromosome 1, position 68448628, gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Leber_congenital_amaurosis_2', 'RPE65-related_recessive_retinopathy', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | CAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCT... | CAGGTACATTGTGAGAAGAAAGTGGGTATATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCT... | pathogenic | 10,675 |
The genetic variant at chromosome 1, position 68448656, affecting gene RPE65 (retinoid isomerohydrolase RPE65): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Leber_congenital_amaurosis_2', 'Retinitis_pigmentosa_20', 'Retinitis_pigmentosa_87_with_choroidal_involvement'] | TATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGTAAG... | TATAGGTTGCCTCCTGAGTTCAGAGGTGAAAACTCACATGGGAGGAGGAGCCAAGCTAGGCCCTACTTTGAGGAGGAGGAGTGGCATGGAGTGCTGCTTTACCTTCTGTGGTATGTGACATGTCCTTCTTTAAAGTCAAACTTGTGCAGGAGGGCTTGCCCATCAAACAGGTGGTAAAATGGCTCAGATCCAACTTCAAAGAGTCCTGGCCCACATCGAAGGAGACTGCCGGTGAGCCAGAGGGGGATCCTGCCTGTGATGAAGGGGAGACAGAACATTGCTTCTTATCCCTGCCTTGGGCTAGGCTTGTCCTTGGTAAG... | pathogenic | 10,678 |
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