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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 6 at position 42978633, within the gene PEX6 (peroxisomal biogenesis factor 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B', 'Zellweger_spectrum_disorders'] | ACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATA... | ACTCCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATA... | pathogenic | 107,997 |
Chromosome 6, position 42978636, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | CCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATAT... | CCTGACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATAT... | pathogenic | 107,998 |
Evaluate if the mutation on chromosome 6 at position 42978639 in PEX6 (peroxisomal biogenesis factor 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)'] | GACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAAT... | GACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAAT... | pathogenic | 107,999 |
Chromosome 6, position 42978640, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | ACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATT... | ACCTCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATT... | pathogenic | 108,000 |
Does the variant impacting PEX6 (peroxisomal biogenesis factor 6) on chromosome 6, position 42978643, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | TCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGG... | TCAAGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGG... | pathogenic | 108,001 |
Is the variant located on chromosome 6 at position 42978649, gene PEX6 (peroxisomal biogenesis factor 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | GATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAA... | GATCTGCCTGGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTTTTTTTTTTACACAATGAAGGTTTATTTTTTTGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAA... | pathogenic | 108,002 |
Does the genetic variant at chromosome 6, position 42978745, impacting gene PEX6 (peroxisomal biogenesis factor 6), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | TGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGA... | TGTCACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGA... | pathogenic | 108,004 |
Does the variant on chromosome 6 at location 42978748 affecting gene PEX6 (peroxisomal biogenesis factor 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCA... | CACTCTTATGTCTGTTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCA... | pathogenic | 108,005 |
Benign or pathogenic: chromosome 6, position 42978762, gene PEX6 (peroxisomal biogenesis factor 6) variant? Disease(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | TTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTG... | TTATGGCGAACTGGTGAGTCTTTACTCAGTAACCCATGGAAATGGAACAACTATTATCTGTTCTACAACTTTCTTCTTGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTG... | pathogenic | 108,007 |
Considering the variant on chromosome 6, location 42978839, involving gene PEX6 (peroxisomal biogenesis factor 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Heimler_syndrome_2', 'PEX6-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B', 'Zellweger_spectrum_disorders'] | TGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAA... | TGAAGTAAAGGCAGAAACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAA... | pathogenic | 108,010 |
Variant at chromosome 6, position 42978854, gene PEX6 (peroxisomal biogenesis factor 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder'] | AACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAA... | AACCAAAAACTTTCCTTGGATGTATTTAATAAAATATTAAAACTAAACACCAGGCACCAAAGATAATAAAGACTCCTTTCCTTCAAGGTATTTACAATATATAATTGGGGATTAAACAGATTATGTAATCATAACAAGATAGAATAAAATAAATGCCATAAAAAAGATAGAAAATGCTATAGGAGGAAGTTCTAAATTCGTGGCTGTGAGATCATGAAAGGCTTTGTGATAAAGGTGTCATCTTTAGATGGCTCTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAA... | pathogenic | 108,011 |
Variant chromosome 6, position 42979107, gene PEX6 (peroxisomal biogenesis factor 6): benign or pathogenic? Disease(s)? | pathogenic; ['Heimler_syndrome_2', 'Peroxisome_biogenesis_disorder_4A_(Zellweger)', 'Peroxisome_biogenesis_disorder_4B'] | CTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCA... | CTTGAGGGAAAGGAGGGTAGGATTTTAACAGATGAGGCTAGAATAATAGGAAACAATTTGAAGTCAAGGATAAGAATGAGCAAAAGCACAGAGACATCATCCTCCATATTATAAAGCACAATACTGAATACATTGTAGCAATTCAATAAACTAATTAGATTGAGTAGATTAACATACACATCTGAAACCTCACTTTTTTTTTTTTTTTTTTTTACACAGAATTTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGTGTGATCTGGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCA... | pathogenic | 108,017 |
Variant in gene PPP2R5D (protein phosphatase 2 regulatory subunit B'delta), located at chromosome 6 position 43007404: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTG... | TCATGGGAGACTTGAACTCCTGGGCGCAAGGGATCCTCCAACCTTGAGTAGCTGGAACTCCAGTAAGCTTCCTGAGTAGCTGGAACTGCAGGCATGTGCCACCACACCTGGCTAATTAAAAAAAATTTTTTGTAGAGATGGGGTCTTGCTACGTTGTTCAGGCTGGTTTCAAACTTCTGGCTTCAAGTAATCCTCCTGCTTTGGCTTCCCAAAGTGTTGGGATTACAGGCTTTGGCCACTGTGCCTGGCCTTTCTTTTACCTTTTGTTTTGTTTTTTTTTTTTGAGACAAAGTCTCGCTCTTGTCCCCCAGGCTGGAGTG... | benign | 108,040 |
The mutation impacting CUL7 (cullin 7) on chromosome 6 at position 43038680: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['3M_syndrome_1', 'CUL7-related_disorder'] | GCCGCCAGTTCACCCCTTCTTAGGCAACCTGGGATCCCCTGCTCCTGGGAGTTCACCATATTGTTGCTGAACTTGGTGCAGATACCCGAATGGCAGAGCACACTGCAGCCCAGAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCGAGTAGCTGGGACTAAAGGTGCATATAGCGCCGTGCCCGCAGGGGTAGGAGTTTTTCTTTCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGG... | GCCGCCAGTTCACCCCTTCTTAGGCAACCTGGGATCCCCTGCTCCTGGGAGTTCACCATATTGTTGCTGAACTTGGTGCAGATACCCGAATGGCAGAGCACACTGCAGCCCAGAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCGAGTAGCTGGGACTAAAGGTGCATATAGCGCCGTGCCCGCAGGGGTAGGAGTTTTTCTTTCTTTCTTTTTTTTTTTCTTGTTCTTCCAAATCCCTCGTTTTGAGAATCAAGGGGTAGGAGTTTGATGACAGCGTGTGCAGCTCTGCAAGGACAGAGAAGGGGTGGAGG... | pathogenic | 108,072 |
A genetic alteration at chromosome 6, position 43040560, in gene CUL7 (cullin 7)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['3-M_syndrome'] | CGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGG... | CGAGGAGCCTGGCCCTGCCTCAGAGCAGAGGCCCCTCTGGCCCTAAGTGCATACCTCCTGGTATATCCTTTTGCTCGTGAAGGTCCAGGGGGCCTCTTGAAGAGGTGAGGGGCCCAATCGCCTGATTGAGCATGTCTGCGGAGAGCCCTGAGAACGCCAGCAGACTCTCCACAGAGACCGCCTTCAGAGAACAGATGGGAGACATTCAGGGCCTCCCCAAGGAGTGGAGAGAAGAGGATGGAGGGAAGAAGCAGAGGGAGTCAAGGTTTTGGGAAGAGAGGCAAGGGACAAAGTGGGAGACAGGAGAGAGGTGCAGCGGG... | pathogenic | 108,081 |
Does the genetic variant at chromosome 6, position 43043155, impacting gene CUL7 (cullin 7), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['3M_syndrome_1'] | AATGAGCGAGCAGAGCAGGTGAGTGGGGAGGAGGGATGAGGGTCTGGAAAGTAGATATGAATGCTGGCAGCTTTCTAAGGTGGTTGGTGCTTTCATACAACTATTTTATAAGATCATTAACCATTGTACAAATTAGCAATATTAACAATTATGGAAAGTGTCTTTTCACATTGTGTCTAAAAAATCAAACTAATAATAATCATTCAAAATGAGAAAATAAGACCAGGCGCAGTTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAGGCAGATGGCTTGAACCCAGGAGTTGGAGACCAGCCTGGGCAACATGGC... | AATGAGCGAGCAGAGCAGGTGAGTGGGGAGGAGGGATGAGGGTCTGGAAAGTAGATATGAATGCTGGCAGCTTTCTAAGGTGGTTGGTGCTTTCATACAACTATTTTATAAGATCATTAACCATTGTACAAATTAGCAATATTAACAATTATGGAAAGTGTCTTTTCACATTGTGTCTAAAAAATCAAACTAATAATAATCATTCAAAATGAGAAAATAAGACCAGGCGCAGTTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAGGCAGATGGCTTGAACCCAGGAGTTGGAGACCAGCCTGGGCAACATGGC... | pathogenic | 108,089 |
Variant in CUL7 (cullin 7), chromosome 6, position 43045661—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic | GGCTAATGCCATCCTCATCTAGAGGGTGAGATAAACAAACCAAGGCACAGCCATGTCTGCAGGGAAGTGGGAGTGGTTGGGCTGAACAGGAGTGTGGAGATAGAGCAACTGGACGGAATGATACAAGGAAGGGGGGCCAGGTAGGGTGGTTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGAGAGGATCGCTTGAGGCAGGAGTTCAAGACTGGCCTGGTCAACATAGCAGGACCCCATCTTTAAAAATAAGAAATAAGCATAAAAAAATAGAAAAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAC... | GGCTAATGCCATCCTCATCTAGAGGGTGAGATAAACAAACCAAGGCACAGCCATGTCTGCAGGGAAGTGGGAGTGGTTGGGCTGAACAGGAGTGTGGAGATAGAGCAACTGGACGGAATGATACAAGGAAGGGGGGCCAGGTAGGGTGGTTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGAGAGGATCGCTTGAGGCAGGAGTTCAAGACTGGCCTGGTCAACATAGCAGGACCCCATCTTTAAAAATAAGAAATAAGCATAAAAAAATAGAAAAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCAC... | pathogenic | 108,096 |
The chromosome 6, position 43048186 genetic variant in gene CUL7 (cullin 7): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['3-M_syndrome', '3M_syndrome_1'] | ATGGCCAAGTCCAGGGGGTGGTGCTTCCCCCAAAACAAACACAGGGGCGTCACAGGAAAGCACACGTGTGTGGCAAAGCACATGTGTGGGAGAGTTACCTGATGAGGATGCCCCGGCGCATGTGCAGGGTGATGTAGTGGGAGCCGGCGCTGCCGTTGGACTCCCAATAGGTCTTGGGGTTGTGGTCCGTCAGCTTGCTGGCCCGGTGCGGGTTGGAGGACACCTCCACCTTCTCCCAGCACTTGTCCTCCTTCACTTCCACACTGGAGCCTGGGGGCAAGTGGGAAGGGGTGGTGGTCACGGTCAGGTAGGGTGTAGAG... | ATGGCCAAGTCCAGGGGGTGGTGCTTCCCCCAAAACAAACACAGGGGCGTCACAGGAAAGCACACGTGTGTGGCAAAGCACATGTGTGGGAGAGTTACCTGATGAGGATGCCCCGGCGCATGTGCAGGGTGATGTAGTGGGAGCCGGCGCTGCCGTTGGACTCCCAATAGGTCTTGGGGTTGTGGTCCGTCAGCTTGCTGGCCCGGTGCGGGTTGGAGGACACCTCCACCTTCTCCCAGCACTTGTCCTCCTTCACTTCCACACTGGAGCCTGGGGGCAAGTGGGAAGGGGTGGTGGTCACGGTCAGGTAGGGTGTAGAG... | pathogenic | 108,108 |
Evaluate the clinical significance of the mutation at chromosome 6, position 43051027 in gene CUL7 (cullin 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGGCAGGATGATCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTTTATATTCTTAAAATAGCAAAGTAGCTTCATCTGAAAACAGGAGAGCACTTCCCTTTATTTCAAAGCATGGAATATGTTTCTGTACAAGAGAAAAAGCTAAATGTGGGGGCTTTTTTAAGTCTTCAAAATTCTCTTGCAATTTTCTAACTTTACATCCTCCTTCATTCTTTGAGGGAACACAATGCCTGCTTCTCCGTTTGTTGCTTCTCTCTAAGTTGCAGCTTC... | AGGCAGGATGATCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTTTATATTCTTAAAATAGCAAAGTAGCTTCATCTGAAAACAGGAGAGCACTTCCCTTTATTTCAAAGCATGGAATATGTTTCTGTACAAGAGAAAAAGCTAAATGTGGGGGCTTTTTTAAGTCTTCAAAATTCTCTTGCAATTTTCTAACTTTACATCCTCCTTCATTCTTTGAGGGAACACAATGCCTGCTTCTCCGTTTGTTGCTTCTCTCTAAGTTGCAGCTTC... | benign | 108,118 |
Variant at chromosome position 43052525, chromosome 6, gene CUL7 (cullin 7): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['3M_syndrome_1'] | TAGCCCTCAGGGTGACCACCTGGCCAGGTTTTAGAAAAACCTCCACATAACAAAACAGCAGCATATGGAGAATACACACACACACACACACACACACACACACACACACACACACACACACACACACACAGGATGCCTTCTCCTTTGGGGGATGGGCCTGTCTCTCCTCTCACCCTGTCTTTCATGGCTTATGCCCCCACACTTCCTTCTGGCCTCCACCACTCCATCTCCCTGACCCTGACCTTTGGAGGAGTCTGGCTATATCAGTTTCTTCCCAGGTGTGAGTCTTCTTGACTTCACAGCCTCCTAAACCCAGATTT... | TAGCCCTCAGGGTGACCACCTGGCCAGGTTTTAGAAAAACCTCCACATAACAAAACAGCAGCATATGGAGAATACACACACACACACACACACACACACACACACACACACACACACACACACACACACAGGATGCCTTCTCCTTTGGGGGATGGGCCTGTCTCTCCTCTCACCCTGTCTTTCATGGCTTATGCCCCCACACTTCCTTCTGGCCTCCACCACTCCATCTCCCTGACCCTGACCTTTGGAGGAGTCTGGCTATATCAGTTTCTTCCCAGGTGTGAGTCTTCTTGACTTCACAGCCTCCTAAACCCAGATTT... | pathogenic | 108,125 |
Gene POLR1C (RNA polymerase I and III subunit C) variant at chromosome 6, position 43520295—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypomyelinating_leukodystrophy_11', 'Treacher_Collins_syndrome_3'] | AGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGT... | AGGTTGAAGACATGAACTAAGACTGATGGTAGAAATAGAGCAAAGGTAGAATAGAAGGTAAATTTATGATTGCTTTGGTAAAGGCTGTGGGGGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGT... | pathogenic | 108,148 |
Variant at chromosome position 43520386, chromosome 6, gene POLR1C (RNA polymerase I and III subunit C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hypomyelinating_leukodystrophy_11', 'Treacher_Collins_syndrome_3'] | GGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGA... | GGTAGCATAAAATGACTTTTTGGCTTGGGAACTGCTTTGATGCATTGTGGTATCATTTACTGAGAGGAGAAATGGGTCTGGGGAACGGGAATGATGATGCATTGTTTTCTGCATGTGGAGAAATCTAGCAGGCTAGAAGACTGCATGCTTGAAATGAGATCAGAAGTGAGATAACATTTTGGGAGTTGTCAGAACAGATAGTTGCTAAAACTGTTAGTACAGTTAAGGTGACCTGGGAGAGAGACAAGAACCTGGCAAATTTAGAGATGGGTGGAAGTCGATCATCAGAGAAGGAAGAAGAGTGGAGCTCAGAGCTCAGA... | pathogenic | 108,149 |
The mutation in gene POLR1C (RNA polymerase I and III subunit C) at chromosome 6, position 43521039—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypomyelinating_leukodystrophy_11', 'Treacher_Collins_syndrome_3'] | TTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAA... | TTTTAATCAATGCCAAGCATAACAGAAGTCTAGTAAGAGGACTGAGTAGTGTCAACAAAACTAAGCACTATGGTAGTTTCTGTTCTTCAGTAGAATAGCTTCTGTGGATGGTTTGGTTGGAAGCCATATTGCATAGGGTTTTAATGAATGGACGACAAAAATGGAGACTTTTCATGAAACTTAAAACACTGGGCGAGATAGAATATTTAATAAGAGACATTTGGGCAAAGGGAGGTTTTTGGATGAGAGGATAATACTTGAGGGAATTATCTAAGGGGGAGGTATGAAGAGATATTACACAGAGAGCAGATTTCACTTAA... | pathogenic | 108,157 |
Determine whether the variant at chromosome 6, position 43583017, in gene POLH (DNA polymerase eta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Xeroderma_pigmentosum_variant_type'] | GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCAGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCAGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCA... | GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCAGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCAGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCA... | pathogenic | 108,187 |
Located at chromosome 6 position 43600999, the variant affecting gene POLH (DNA polymerase eta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Xeroderma_pigmentosum_variant_type'] | TTAATGTATTTCTTCTATTTTCACTTGCTGAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGCTGGAGTTCAGTGGCCCAATCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTACTGGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT... | TTAATGTATTTCTTCTATTTTCACTTGCTGAATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGCTGGAGTTCAGTGGCCCAATCTCAGCTCACTGCAGCCTCCGCCTCCCGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTACTGGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT... | pathogenic | 108,197 |
A genetic alteration at chromosome 6, position 43604023, in gene POLH (DNA polymerase eta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTGAACCCAAGAGGCGGAGGTTGCAGTGAGCCAAAATGGCGCCCTTGCACTCTAGCCTGGGTGACAAGAGCAAGACTCCGTCTTAAAAATATATAAAAAATAAATAAATAAACCAAGTTTTAGCTAAATGTTTAACTTCCCGCTAGACTTTTTTATTTAAGTCTGTTATTAAGTAACAAATAGGAATTTTACTTCTTTTCTTTCCTCTAATAGCATATCAAGGTGTTCAGGGCTGCTGAATTTCAGCTCTCAAAGTAGGCATTAGAGAAGAAGCCAAGTCAAATGAACAGGTTGTGCCTACCAGTTGTGTGGCCTTGACA... | TTGAACCCAAGAGGCGGAGGTTGCAGTGAGCCAAAATGGCGCCCTTGCACTCTAGCCTGGGTGACAAGAGCAAGACTCCGTCTTAAAAATATATAAAAAATAAATAAATAAACCAAGTTTTAGCTAAATGTTTAACTTCCCGCTAGACTTTTTTATTTAAGTCTGTTATTAAGTAACAAATAGGAATTTTACTTCTTTTCTTTCCTCTAATAGCATATCAAGGTGTTCAGGGCTGCTGAATTTCAGCTCTCAAAGTAGGCATTAGAGAAGAAGCCAAGTCAAATGAACAGGTTGTGCCTACCAGTTGTGTGGCCTTGACA... | benign | 108,200 |
Evaluate this variant at chromosome 6, position 43610556, gene POLH (DNA polymerase eta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Xeroderma_pigmentosum'] | CTGGGGCCTTTCTTTCCACTTTTTTTTCCTAAGAGACAGGGTCTTGGCTGTCATCCGTGCTGGAGCACAGTAATACAACCTTAGCTCACTGCAGCCTTGTAGCCTCAACCTCCTGGGCTCAAGTAATCCTCCTGCCTTAGCCTCCCACAGTGCTGGGAGTACAGGCATGAGCCACTGTGCCTAGCCTTTTCTTCCCTCTTTGTATCCAGTGGGGATCCCTGAAAATCTATCTTTTAAGCTTCAAAGGACTTTATGCCAAAAATAATTCAGGACATAGCAGATCCTATCACTTCACTGTTTAAAACATTCCAGTGGTTTCC... | CTGGGGCCTTTCTTTCCACTTTTTTTTCCTAAGAGACAGGGTCTTGGCTGTCATCCGTGCTGGAGCACAGTAATACAACCTTAGCTCACTGCAGCCTTGTAGCCTCAACCTCCTGGGCTCAAGTAATCCTCCTGCCTTAGCCTCCCACAGTGCTGGGAGTACAGGCATGAGCCACTGTGCCTAGCCTTTTCTTCCCTCTTTGTATCCAGTGGGGATCCCTGAAAATCTATCTTTTAAGCTTCAAAGGACTTTATGCCAAAAATAATTCAGGACATAGCAGATCCTATCACTTCACTGTTTAAAACATTCCAGTGGTTTCC... | pathogenic | 108,204 |
Benign or pathogenic: chromosome 6, position 43610699, gene POLH (DNA polymerase eta) variant? Disease(s) if pathogenic? | pathogenic; ['POLH-related_disorder', 'Xeroderma_pigmentosum_variant_type'] | CCCACAGTGCTGGGAGTACAGGCATGAGCCACTGTGCCTAGCCTTTTCTTCCCTCTTTGTATCCAGTGGGGATCCCTGAAAATCTATCTTTTAAGCTTCAAAGGACTTTATGCCAAAAATAATTCAGGACATAGCAGATCCTATCACTTCACTGTTTAAAACATTCCAGTGGTTTCCCTTCACACTTAAGGCATATTAAGGAATTTTTTAAAAGTAATTCTATAAAGCCAAATATAATCTAATTTCTTGCTACTTCTCTGACCCCATCTCTTATCTTCCCCTCACTTATTCTAGTCTCCACTTCACTGGCCTCCTTCCCT... | CCCACAGTGCTGGGAGTACAGGCATGAGCCACTGTGCCTAGCCTTTTCTTCCCTCTTTGTATCCAGTGGGGATCCCTGAAAATCTATCTTTTAAGCTTCAAAGGACTTTATGCCAAAAATAATTCAGGACATAGCAGATCCTATCACTTCACTGTTTAAAACATTCCAGTGGTTTCCCTTCACACTTAAGGCATATTAAGGAATTTTTTAAAAGTAATTCTATAAAGCCAAATATAATCTAATTTCTTGCTACTTCTCTGACCCCATCTCTTATCTTCCCCTCACTTATTCTAGTCTCCACTTCACTGGCCTCCTTCCCT... | pathogenic | 108,205 |
Is the genetic change at chromosome 6, position 43670917, within gene RSPH9 (radial spoke head component 9) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_12'] | GTGGGGTGACCAAGTGAGGGAATCGGATCTCCCTGGGTCTGTGCTTCTTGTCCAAGGCTGAAGCAGTGGAGTTGGAACACTCTGTCCTGTTGGACCCCCACCCTCATCAATCCTAAACAATCTGTTTTCTGGAGATGCATGACCAGGAAAGTACCAGGCTAGGGACTCTCAAACTCTGAGGGCAGGTCTGAGAGGCAGAGGACCTCAAGCACCCAGAGAAAAGTTTTAAGAGTCAGGGGAAATACTCCTTCTCAGGGGCAGTGTTCCAGCCGGAGCCCCGCTAACACAGGGGCACTACTTTCTTCTTGATGTTGTCCAGC... | GTGGGGTGACCAAGTGAGGGAATCGGATCTCCCTGGGTCTGTGCTTCTTGTCCAAGGCTGAAGCAGTGGAGTTGGAACACTCTGTCCTGTTGGACCCCCACCCTCATCAATCCTAAACAATCTGTTTTCTGGAGATGCATGACCAGGAAAGTACCAGGCTAGGGACTCTCAAACTCTGAGGGCAGGTCTGAGAGGCAGAGGACCTCAAGCACCCAGAGAAAAGTTTTAAGAGTCAGGGGAAATACTCCTTCTCAGGGGCAGTGTTCCAGCCGGAGCCCCGCTAACACAGGGGCACTACTTTCTTCTTGATGTTGTCCAGC... | pathogenic | 108,245 |
Gene mutation in AARS2 (alanyl-tRNA synthetase 2, mitochondrial) at chromosome 6, position 44301069—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCTCCTCACCTGCCCCTATCCCAGCTCACTGCTCAGTGGCACTGGCCACCTCACGGCCTCTGCATTGGCTGTTCCCTCAGGCTGGAATGCTTTTCCCTGATTTCCACACGGGTCACACCCTCACCTCCCAGCTCCCTGCTCACATGTCACCTCTTGGTGAGGGAATATCACCATCCACACTCCTGATCCCCATTCTCTATTTCCCCCCCAGACCTCATCACCATCTGACACTTTCTCCCTTCTTTTTTTTAAGACAGGGTCTCACTCTGTTGCCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCGGCCTTGAATTCCT... | CCTCCTCACCTGCCCCTATCCCAGCTCACTGCTCAGTGGCACTGGCCACCTCACGGCCTCTGCATTGGCTGTTCCCTCAGGCTGGAATGCTTTTCCCTGATTTCCACACGGGTCACACCCTCACCTCCCAGCTCCCTGCTCACATGTCACCTCTTGGTGAGGGAATATCACCATCCACACTCCTGATCCCCATTCTCTATTTCCCCCCCAGACCTCATCACCATCTGACACTTTCTCCCTTCTTTTTTTTAAGACAGGGTCTCACTCTGTTGCCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCGGCCTTGAATTCCT... | benign | 108,257 |
Clinical classification of chromosome 6, position 44301451, gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Leukoencephalopathy,_progressive,_with_ovarian_failure'] | AGCTACCTGGGAGGCTGAGGCATAAAGATTACTTTTTTTTTTTTTTGTAGACAGGGTCTTGCTGTTTGCGCAGGCTGGTCTTGCACTTCTGGCCTCAAGCGATTCTCCAACCTCAGCCTCCTAAAATGCCAGGATTATAGGCATGAGCCACCAAGCCTGACCCTCTTCTTTTGCTTTATTTCCTGTTTCCTCCACATGAAGCAGGCTCCATGAAGGAAGGAACTGTCAGTTTAGTGCCCGCCACGTTCTCAGTTGCTCAATTCATCAACAAACCAGCAGGGCCCAATTTAAATTAGAGGTCATTGTTAATGAAAGAAGTA... | AGCTACCTGGGAGGCTGAGGCATAAAGATTACTTTTTTTTTTTTTTGTAGACAGGGTCTTGCTGTTTGCGCAGGCTGGTCTTGCACTTCTGGCCTCAAGCGATTCTCCAACCTCAGCCTCCTAAAATGCCAGGATTATAGGCATGAGCCACCAAGCCTGACCCTCTTCTTTTGCTTTATTTCCTGTTTCCTCCACATGAAGCAGGCTCCATGAAGGAAGGAACTGTCAGTTTAGTGCCCGCCACGTTCTCAGTTGCTCAATTCATCAACAAACCAGCAGGGCCCAATTTAAATTAGAGGTCATTGTTAATGAAAGAAGTA... | pathogenic | 108,262 |
Does the genetic variant at chromosome 6, position 44302048, impacting gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCATGATCTACCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAACCACCACACCCGGCCAGTGAAATAATTTCTAATGTGCAGTCACAGCCATAATTGTC... | GACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCCCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCATGATCTACCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAACCACCACACCCGGCCAGTGAAATAATTTCTAATGTGCAGTCACAGCCATAATTGTC... | benign | 108,266 |
Benign or pathogenic: chromosome 6, position 44306404, gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial) variant? Disease(s) if pathogenic? | benign | GGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGG... | GGGCAGGGGGTTGGGAGAGTGAAGGGGCTGCAGGGTATTGGGAACAGTTAGGGAGGATCCTTACCTCATCCACATGCAGCTGCACCTGGTCCCCTAACCGCAGGCACTCAGGGGCTACTGCCTCATGCAGGATGAAACCTCCACAGACCTGGGCCCGGGCTACTGGGAACAGCACGTCCTGAGGGAGGGTAGTGGTCAAGGTGCCTGTAGCCTTTCCCTCCCCTTGGCTCCCACTCAGGCTTGGGTCTGCCGCCCACAGAAATCAGCCTGGGTTGTGATGGAGACTCACCTCTTGCCCTGCCCGCACCAGGTAGCCACGG... | benign | 108,295 |
Does the variant impacting AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 44310411, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Leukoencephalopathy,_progressive,_with_ovarian_failure'] | ACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACC... | ACCCCATCTGTACTAAAAATACAAAAATTAGTCAGGTGTGTTGGCGGGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCACGAGAATTGCTTGAGCCCCGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGACAACAGAGCAAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGGGTTCTCAGTGGGGAGTGTGGCATGATCTGATGTACACTTTTATTTATTTATTTTTTTTGAGATGAACTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTAGCACGATCTCAGCTTACTGCAACC... | pathogenic | 108,305 |
Does the variant impacting AARS2 (alanyl-tRNA synthetase 2, mitochondrial) on chromosome 6, position 44311095, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_8', 'Pulmonary_hypoplasia'] | CAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAG... | CAGCTGTTTCCCATCAAGGGACAGAATCCATTTCTCCATCCCCTGAATCTCTGCTGGCTTTGTGACTTGCTTTGGCCCATAGAATACAGTGGAAACAACACTGTTCTGAGCCTATGTGTCTGCTCTCTGTCTTGGAACCTTGCTGAGCTGTGATGTGGACAAGCCCAGACTAGCCAGCTAGGTGATGACAGACACATGGTCCAGTCACCCCTACTGCCCCCAAACTGACAGCCAGCCAAGCCCCAGAGGAGCTGCGGCCTCTCAGCTCACCACAGATGGATGAATGAGCTCACACAAGACCAAAGAATGAGCCAGCTAAG... | pathogenic | 108,308 |
Benign or pathogenic: chromosome 6, position 44312114, gene AARS2 (alanyl-tRNA synthetase 2, mitochondrial) variant? Disease(s) if pathogenic? | pathogenic; ['Combined_oxidative_phosphorylation_defect_type_8', 'Leukoencephalopathy,_progressive,_with_ovarian_failure'] | AAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGGAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAG... | AAGTAAGCACTCAACACGTATTTTCTAAATAAATGAAAGAGGCAAGGAGTTAGGAGGAACATCAGGTAATAAGTAATGAATCCTAGTGTCTTGCTTGACGTCTTGGAATTCTTGGTTGGTTATTGTCCTCAGATGCTGAGAACACTCTGAGTTCTCAACAAAGATGGAATGCAATGGGGCTGAGGGCTGTGAAGAGCAGGTTAGAGGGCTTCTGGAAGGGAAGAGGCACTCACCTGCTGTATGGCGTTGAGCAGCGGGGAAAAGAGGTCAGTGTCATAGGTGGAGTGTTTGCCTTGCAGCACAGCCACCAGCCTTTCCAG... | pathogenic | 108,313 |
The mutation in gene RUNX2 at chromosome 6, position 45328715—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTTTGGGAAAATCAAATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTT... | TTTTGGGAAAATCAAATTTTCTGTAAAGAAACTTATGAACATATTTGTACAGTTATTGTGATCTAATATGAACCAAAAGCAGATAATGAATAGCACTAGGAAGAACACAGGGATATTTTAGTTCTAACACCCTCCTGTCTCCCTAGCCCTTACCTCCCTGCACATTCCAAATAATCTTTTGTAATTCACTGTCTCCGCCCACCCCATTTACTTTATGCCACTCCTAGTTACTGTCACACTAGGAAGAAGTCTAACATGCAGATTTAGAGTGGCATGGATAAATGGCAAAAAAATGCCTAGAAAATTGGTCTGTTCGCCTT... | benign | 108,321 |
Regarding the variant found on chromosome 6 at position 45422617 in gene RUNX2 (RUNX family transcription factor 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cleidocranial_dysostosis'] | AAATCACTTGTTACTGTGTCAGCTACTCCACTAGGAATCTTTGAAACTTTGGCAACTGATGATTTTTTTCGCAAACACGTTTTCAAGCTTTGGAAGGCTTTAAAGAGTTTGGTAATAAGCAAGAAACGTAGTAGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAG... | AAATCACTTGTTACTGTGTCAGCTACTCCACTAGGAATCTTTGAAACTTTGGCAACTGATGATTTTTTTCGCAAACACGTTTTCAAGCTTTGGAAGGCTTTAAAGAGTTTGGTAATAAGCAAGAAACGTAGTAGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAG... | pathogenic | 108,323 |
The genetic variant at chromosome 6, position 45422617, affecting gene RUNX2 (RUNX family transcription factor 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cleidocranial_dysostosis', 'Metaphyseal_dysplasia-maxillary_hypoplasia-brachydacty_syndrome'] | AAATCACTTGTTACTGTGTCAGCTACTCCACTAGGAATCTTTGAAACTTTGGCAACTGATGATTTTTTTCGCAAACACGTTTTCAAGCTTTGGAAGGCTTTAAAGAGTTTGGTAATAAGCAAGAAACGTAGTAGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAG... | AAATCACTTGTTACTGTGTCAGCTACTCCACTAGGAATCTTTGAAACTTTGGCAACTGATGATTTTTTTCGCAAACACGTTTTCAAGCTTTGGAAGGCTTTAAAGAGTTTGGTAATAAGCAAGAAACGTAGTAGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAG... | pathogenic | 108,324 |
Does the chromosome 6 mutation at position 45422749 within gene RUNX2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAA... | AGTACACAACGCCGAGGGTAAAACGGCCCTGTGCCCCCTTCTTGGGGTGTAATAGCCTCAAGCGGATTTCCCGGCTTCTGCGGGCGCAGCACATTGTTTTATTTGTTTTGAAGGCTCAGAGTTTGAGGCTGGTCGTAGACACCCACGTGCTCTGACTCTCATCAGCGTAATGATCGACTTAGCCAGAGTCGTGTCTATATAAACCACAAAAACCTAATCATTAGAAATCCCAGCCTCCAAAAACCACATTTTAGGTAAAAAGTGCCGCTTTTTTTCCGCGCTCCTTCATCCTCTCGACCACAACTTTTTGGGGGATCCAA... | benign | 108,329 |
Clinically, how would you classify the variant at chromosome 6, position 45547116, gene RUNX2 (RUNX family transcription factor 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cleidocranial_dysostosis', 'Inborn_genetic_diseases'] | TGCAGACTCTGGGAAATACTAATGAGGGATGGGAACCTCTCTGTCTACCCCTCCCCTAAGGCTGTTGCTTCTCCTTCTCTCTTGGAATTCATAGTCATAGAACATTAGAGCTGGAAGGGAACTTAGAGCTCATCCCCCTCATTTTACAGATGATGACACTGCCACCTCTGACTTCTGCCTCTGGCCTTCCACTCTCAGTAAGAAGAGCCAGGCAGGTGAGACTTTTAACAATTGCTGGGCTGGGCAGGGCTGGGCTGGGCTGGGCTGTCTGGTTGTTACTGTCCGATTTGTGAGTTTTGTTAACTATATGTTGCTTTTAA... | TGCAGACTCTGGGAAATACTAATGAGGGATGGGAACCTCTCTGTCTACCCCTCCCCTAAGGCTGTTGCTTCTCCTTCTCTCTTGGAATTCATAGTCATAGAACATTAGAGCTGGAAGGGAACTTAGAGCTCATCCCCCTCATTTTACAGATGATGACACTGCCACCTCTGACTTCTGCCTCTGGCCTTCCACTCTCAGTAAGAAGAGCCAGGCAGGTGAGACTTTTAACAATTGCTGGGCTGGGCAGGGCTGGGCTGGGCTGGGCTGTCTGGTTGTTACTGTCCGATTTGTGAGTTTTGTTAACTATATGTTGCTTTTAA... | pathogenic | 108,352 |
Is the genetic variant on chromosome 6, position 45547118, gene RUNX2 (RUNX family transcription factor 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | CAGACTCTGGGAAATACTAATGAGGGATGGGAACCTCTCTGTCTACCCCTCCCCTAAGGCTGTTGCTTCTCCTTCTCTCTTGGAATTCATAGTCATAGAACATTAGAGCTGGAAGGGAACTTAGAGCTCATCCCCCTCATTTTACAGATGATGACACTGCCACCTCTGACTTCTGCCTCTGGCCTTCCACTCTCAGTAAGAAGAGCCAGGCAGGTGAGACTTTTAACAATTGCTGGGCTGGGCAGGGCTGGGCTGGGCTGGGCTGTCTGGTTGTTACTGTCCGATTTGTGAGTTTTGTTAACTATATGTTGCTTTTAAAG... | CAGACTCTGGGAAATACTAATGAGGGATGGGAACCTCTCTGTCTACCCCTCCCCTAAGGCTGTTGCTTCTCCTTCTCTCTTGGAATTCATAGTCATAGAACATTAGAGCTGGAAGGGAACTTAGAGCTCATCCCCCTCATTTTACAGATGATGACACTGCCACCTCTGACTTCTGCCTCTGGCCTTCCACTCTCAGTAAGAAGAGCCAGGCAGGTGAGACTTTTAACAATTGCTGGGCTGGGCAGGGCTGGGCTGGGCTGGGCTGTCTGGTTGTTACTGTCCGATTTGTGAGTTTTGTTAACTATATGTTGCTTTTAAAG... | pathogenic | 108,353 |
Mutation found at chromosome 6 position 45903262, gene CLIC5 (chloride intracellular channel 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATCTCCAGGGCACAATTTCCAGGGGGACCTGGAAAGGTTCCTTTTGAGGTGGAAATGAATCAACTCATTCCGCCTTTTCAAAGCTTTCTCAGGCTTATAAAGTGTCCTACTGAGAAAGTTCCTCTTCCTCAATGGGCTCTAGGAGACCTCCTGCTTCCTCTCCTCTGATTTGATCAATGGGTTACTTTTTTTCTTCAGAGATCCCTGGAGGCAGGTAGGTCCAGGGATTGCTTGGGTTAGAATTTGTTGATATTTCTATGGAAAGGACCCGTGCTATCCTGCCCTTGCTGAGAAATGAGCCAAGTCCAGGGGCTTTCCAG... | ATCTCCAGGGCACAATTTCCAGGGGGACCTGGAAAGGTTCCTTTTGAGGTGGAAATGAATCAACTCATTCCGCCTTTTCAAAGCTTTCTCAGGCTTATAAAGTGTCCTACTGAGAAAGTTCCTCTTCCTCAATGGGCTCTAGGAGACCTCCTGCTTCCTCTCCTCTGATTTGATCAATGGGTTACTTTTTTTCTTCAGAGATCCCTGGAGGCAGGTAGGTCCAGGGATTGCTTGGGTTAGAATTTGTTGATATTTCTATGGAAAGGACCCGTGCTATCCTGCCCTTGCTGAGAAATGAGCCAAGTCCAGGGGCTTTCCAG... | benign | 108,359 |
Is the genetic variant on chromosome 6, position 47576557, gene CD2AP (CD2 associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Focal_segmental_glomerulosclerosis_3,_susceptibility_to'] | AGCACAGTGTAAATAAAAATTAGAGGGTTTTTTGCCTTTTAAAGCTAAAATTATATATAAATTTAGTTATATATATAATTAATATAATAAATATATATTTAATTTGAATTAGACCTAAAATGGACTGTTTTTAAAATGGATTTAGAAAATATTAAATTACTTGATATTTTGGCACTACTTAAATTTCCTCTAGATTGTCAACATTCATTAAATTTACTAAACTTCTTTGAATGTGTGGAGTATTTTATTTCATTAGCATTTTGCTGGCATTGTGAAATGAAACCAAGTAAGTGAGCCATAAATTATAAGAACTAAAAAGA... | AGCACAGTGTAAATAAAAATTAGAGGGTTTTTTGCCTTTTAAAGCTAAAATTATATATAAATTTAGTTATATATATAATTAATATAATAAATATATATTTAATTTGAATTAGACCTAAAATGGACTGTTTTTAAAATGGATTTAGAAAATATTAAATTACTTGATATTTTGGCACTACTTAAATTTCCTCTAGATTGTCAACATTCATTAAATTTACTAAACTTCTTTGAATGTGTGGAGTATTTTATTTCATTAGCATTTTGCTGGCATTGTGAAATGAAACCAAGTAAGTGAGCCATAAATTATAAGAACTAAAAAGA... | pathogenic | 108,407 |
Does the chromosome 6 mutation at position 47579334 within gene CD2AP (CD2 associated protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAGCTAACTTTTATTGACTATATTTGTTGTAATTTACATATTGGGAATTATTGTTAACCATCATATTTGTTCTTTTTTAAGTACTTTTTTTTTAAAATTAACCTCAACTTCCCAGGTTTTTATTCTTACTTCTCTTCCACCTCATTCTATTTTTTCTCCTGTCTGTCGTTTGGAGTGTTGTTTGTAATGTAAACAGAAGAAAAATAGGGAAACAAGCTAAACATCCATGAGTATGGAAATGGTTCTGAAACTCTTTTTACTCTGGAAAATGATGTCACCATTTTAAAGAATGAAGTGATTTTATAACTTGGAATAAATCC... | GAGCTAACTTTTATTGACTATATTTGTTGTAATTTACATATTGGGAATTATTGTTAACCATCATATTTGTTCTTTTTTAAGTACTTTTTTTTTAAAATTAACCTCAACTTCCCAGGTTTTTATTCTTACTTCTCTTCCACCTCATTCTATTTTTTCTCCTGTCTGTCGTTTGGAGTGTTGTTTGTAATGTAAACAGAAGAAAAATAGGGAAACAAGCTAAACATCCATGAGTATGGAAATGGTTCTGAAACTCTTTTTACTCTGGAAAATGATGTCACCATTTTAAAGAATGAAGTGATTTTATAACTTGGAATAAATCC... | benign | 108,410 |
Evaluate if the mutation on chromosome 6 at position 47579334 in CD2AP (CD2 associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GAGCTAACTTTTATTGACTATATTTGTTGTAATTTACATATTGGGAATTATTGTTAACCATCATATTTGTTCTTTTTTAAGTACTTTTTTTTTAAAATTAACCTCAACTTCCCAGGTTTTTATTCTTACTTCTCTTCCACCTCATTCTATTTTTTCTCCTGTCTGTCGTTTGGAGTGTTGTTTGTAATGTAAACAGAAGAAAAATAGGGAAACAAGCTAAACATCCATGAGTATGGAAATGGTTCTGAAACTCTTTTTACTCTGGAAAATGATGTCACCATTTTAAAGAATGAAGTGATTTTATAACTTGGAATAAATCC... | GAGCTAACTTTTATTGACTATATTTGTTGTAATTTACATATTGGGAATTATTGTTAACCATCATATTTGTTCTTTTTTAAGTACTTTTTTTTTAAAATTAACCTCAACTTCCCAGGTTTTTATTCTTACTTCTCTTCCACCTCATTCTATTTTTTCTCCTGTCTGTCGTTTGGAGTGTTGTTTGTAATGTAAACAGAAGAAAAATAGGGAAACAAGCTAAACATCCATGAGTATGGAAATGGTTCTGAAACTCTTTTTACTCTGGAAAATGATGTCACCATTTTAAAGAATGAAGTGATTTTATAACTTGGAATAAATCC... | benign | 108,411 |
Is the genetic mutation found on chromosome 6 at position 47599283, within the gene CD2AP (CD2 associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATGGAGAAAGCAGCAGACGAAGAGGTGAAGGAGGCTTATAGGTAGAAGGCCCTCTCCTGCCACCCAGACAAGTTGGATAATCACAGAGCAGCTGAACTCCTCCACTAGCTTTCTCAGGCCTTGCTGCAGCCAGGGCTGCATATGATGATGTTAGAAAAGCCAAGAAGCAGACAGCATAGAGGACCCAGAGGCTTGATGAGAGAATAAAAAAAGCTAATCATGACCTGAGGCCCAGGCCCAGGTGAGTGAGAAGGTGGAGGAAAGCTAGAGCACCAGGACACTTGAGCAGGAGATTGAACATCTTAGTGAATAGTGTTCA... | CATGGAGAAAGCAGCAGACGAAGAGGTGAAGGAGGCTTATAGGTAGAAGGCCCTCTCCTGCCACCCAGACAAGTTGGATAATCACAGAGCAGCTGAACTCCTCCACTAGCTTTCTCAGGCCTTGCTGCAGCCAGGGCTGCATATGATGATGTTAGAAAAGCCAAGAAGCAGACAGCATAGAGGACCCAGAGGCTTGATGAGAGAATAAAAAAAGCTAATCATGACCTGAGGCCCAGGCCCAGGTGAGTGAGAAGGTGGAGGAAAGCTAGAGCACCAGGACACTTGAGCAGGAGATTGAACATCTTAGTGAATAGTGTTCA... | benign | 108,423 |
Located at chromosome 6 position 47609224, the variant affecting gene CD2AP (CD2 associated protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Focal_segmental_glomerulosclerosis_3,_susceptibility_to'] | GTTACCACATTTTCTTTATCCATTTGTCTGTTGATGGACACTTAGGTTGATTCCAATTCTTGGCTGTATTCTTGTGAATAGTGCTACAGTAAACATGGGAGTGCAGATATCCCTTTGATATACAGATTTCCTTTTTTTGGTATATACCTAGCAGTGCTGGATCAGATGGTAGCTCTATATTTAGTTTTTTGAGGAACTTCCAAATTTTTCTCCATAATGATTGTACTCATTTACATTCCCCCCAACAGTGTACGAGGGTTCCCTATCTCCATATCCTTGCCAGTATTTGCTATTACCTATCTTTTGGATAAAAACCATTT... | GTTACCACATTTTCTTTATCCATTTGTCTGTTGATGGACACTTAGGTTGATTCCAATTCTTGGCTGTATTCTTGTGAATAGTGCTACAGTAAACATGGGAGTGCAGATATCCCTTTGATATACAGATTTCCTTTTTTTGGTATATACCTAGCAGTGCTGGATCAGATGGTAGCTCTATATTTAGTTTTTTGAGGAACTTCCAAATTTTTCTCCATAATGATTGTACTCATTTACATTCCCCCCAACAGTGTACGAGGGTTCCCTATCTCCATATCCTTGCCAGTATTTGCTATTACCTATCTTTTGGATAAAAACCATTT... | pathogenic | 108,435 |
Is the genetic variant on chromosome 6, position 49431526, gene MMUT (methylmalonyl-CoA mutase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTTAATGCCTGAGTTCCCTATTTCTTCAGTTCAGGTGTGGATATGTGTATATGGTGTGTTTCTCACAGATGAACTCTTGATTCTTCATTAGCCTATAAACAAAGCAAAGATATCTAGATCACACTGGCTATGAATGCAAAATCTTCTTCCTATCTCTGTCAGTTGCCTCACTGGCATCATGCATCATAAATATAATCTTATCAAAGATGAAATAACTGTAACTAAGATTGGGCACTATTAGATTGATGAAGTGCTCACCTGTGAAACAACACATATCAGTAAGTTAAATTGCTTTGTGCAGTATGTTTTGGTTGTGCTGG... | GTTAATGCCTGAGTTCCCTATTTCTTCAGTTCAGGTGTGGATATGTGTATATGGTGTGTTTCTCACAGATGAACTCTTGATTCTTCATTAGCCTATAAACAAAGCAAAGATATCTAGATCACACTGGCTATGAATGCAAAATCTTCTTCCTATCTCTGTCAGTTGCCTCACTGGCATCATGCATCATAAATATAATCTTATCAAAGATGAAATAACTGTAACTAAGATTGGGCACTATTAGATTGATGAAGTGCTCACCTGTGAAACAACACATATCAGTAAGTTAAATTGCTTTGTGCAGTATGTTTTGGTTGTGCTGG... | benign | 108,442 |
Does the variant impacting MMUT (methylmalonyl-CoA mutase) on chromosome 6, position 49431784, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | CTGTGAAACAACACATATCAGTAAGTTAAATTGCTTTGTGCAGTATGTTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTT... | CTGTGAAACAACACATATCAGTAAGTTAAATTGCTTTGTGCAGTATGTTTTGGTTGTGCTGGAATCTTCTATTTTGAATCAGATGTTTTCGATGAAAGGAAATGAGGAAAGTAGTTGTCTTCCTGATCCATTAATTATTTTCTTGTACTATTTGGTGAATATCGGATAGCTTATCTGTATAAAATATCTATCCACTTTTTTAATATACTTGGTTATTTTCCTGATCATTTCCAAAAGTCAGCTCATTGTTGGGCATACAAGTTTTCATCCAAAAATAAGGATAGTAATAAAGGTCGGATGAAATTTCTTTTGGAATCTTT... | pathogenic | 108,446 |
Determine whether the variant at chromosome 6, position 49440215, in gene MMUT (methylmalonyl-CoA mutase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | CATATGTAGTAGAGAAGGCTTTTCATATAAAATTATTACAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAAT... | CATATGTAGTAGAGAAGGCTTTTCATATAAAATTATTACAATGTACTTTCTAGTCAAATTTTTTTGTATTATCATTCTATGGAAAATGTCAGTGTAATTTATCTCCTGCAAACTATTTTCCTGTCTAAGTCTAATATTCTGTGACTAAGTAACATATTAGTAGAGAGTTAAAAAAAGACAACAAAAATAAACGAAAATAACCTTACTTATGAATTGAGTTTATATTGCTATTTGATTTCTTTTTCAAAACACTTTTCACCAATCCCATGTGGGCTATCTTTCCCACAAAATATTAGTCAAATCTCAATAAAGAGTACAAT... | pathogenic | 108,464 |
Is chromosome 6, position 49444656, gene MMUT (methylmalonyl-CoA mutase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency'] | GGAAGAACCATTTTAAAGTTATTGAAGATGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGA... | GGAAGAACCATTTTAAAGTTATTGAAGATGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGA... | pathogenic | 108,485 |
The mutation impacting MMUT (methylmalonyl-CoA mutase) on chromosome 6 at position 49444684: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Methylmalonic_acidemia'] | TGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGACTTTAATAAAAGTCATCTAATTTTTTTA... | TGTGAAGATATGACTTTTGAACTAAGATATAAATTATAAAAAGGGGGATCCCAAGGGAACATAAAACAGTAAGAGTGTTTGAAAAAGGAAGCACTAAAAGCAAAGGCTCTGAGATGTAGGAAAATATGTTTTATGTTCTAAAAATAGAAAGAAGGGCATTAGGAACACGGCATAGTGAGGAAAGTGGTATAAGATGAGGTCAGAGAGATGGGCAAGAGTCACATCTAGCACATCTTGCAGACTATCGGAAGATTAGGTTTGAATATAAAAGGAATGGGCAACCATCAAAGGACTTTAATAAAAGTCATCTAATTTTTTTA... | pathogenic | 108,486 |
Does the genetic variant at chromosome 6, position 49448814, impacting gene MMUT (methylmalonyl-CoA mutase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | AATGAAATCCTTCAGGCTATGAAGATATAAAGTTAATAACCTAAAGTATAACAGAAAAGAAAGGGTTTTCCAAAAATAAATACTATTAGATTTTTATAGATTGAACTAAAAAAAAAGCCATACATTAAACAATCTCAGGAAAAGTAAACAAAGAAAACCATTAAATGTATAAGCTCCCTACCTTGGAAACAGCAGTACTTACAAATGCCAAAGATTAAGAGGCCAAAGTAGCTTCATACAACAAAAATATATAGGTTACAACAGTGACAATTAATTTGATTTATCTATTTTAGTATTTCATATGCTCTGGATCAACTCAG... | AATGAAATCCTTCAGGCTATGAAGATATAAAGTTAATAACCTAAAGTATAACAGAAAAGAAAGGGTTTTCCAAAAATAAATACTATTAGATTTTTATAGATTGAACTAAAAAAAAAGCCATACATTAAACAATCTCAGGAAAAGTAAACAAAGAAAACCATTAAATGTATAAGCTCCCTACCTTGGAAACAGCAGTACTTACAAATGCCAAAGATTAAGAGGCCAAAGTAGCTTCATACAACAAAAATATATAGGTTACAACAGTGACAATTAATTTGATTTATCTATTTTAGTATTTCATATGCTCTGGATCAACTCAG... | pathogenic | 108,496 |
Clinically, how would you classify the variant at chromosome 6, position 49451464, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['MMUT-related_disorder', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | AGGTCAACCTGCTTTTCCCTGATGAATTCAAGAAAGAAGAATCTATATTGGATTCTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGA... | AGGTCAACCTGCTTTTCCCTGATGAATTCAAGAAAGAAGAATCTATATTGGATTCTACGTAAGTGTAAAATGAGAAGCTAAAAAGAAGAAGACAATTTGAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGA... | pathogenic | 108,503 |
Evaluate the clinical significance of the mutation at chromosome 6, position 49451562 in gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | GAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCT... | GAGAGTCTGCAACCACCCCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCT... | pathogenic | 108,511 |
Chromosome 6, position 49451579, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | CCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATAT... | CCTCTCTCATTCTGTCAGGAGAACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATAT... | pathogenic | 108,512 |
A genetic variant at chromosome 6, position 49451600, affecting gene MMUT (methylmalonyl-CoA mutase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | AACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAA... | AACCAAAGTTTACTGTCTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAA... | pathogenic | 108,515 |
Regarding the variant at chromosome 6 and position 49451616, affecting gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | CTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTT... | CTACAGAAAATGAACTCGAGACACAATGAACTATCAAATACCAAATACAGACAGAAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTT... | pathogenic | 108,516 |
Determine whether the variant at chromosome 6, position 49451670, in gene MMUT (methylmalonyl-CoA mutase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['MMUT-related_disorder', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | AAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAG... | AAGTAAGGGTAAGATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAG... | pathogenic | 108,520 |
Variant chromosome 6, position 49451683, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? Disease(s)? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | ATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCA... | ATGTCTTACTGAAATAAAAGCCTGTACTCTGACTAAAGACTAAAAACAAAAAGCACAGAGAGAAAATGGAGACAATACAGGATGTAAAAGAAAACTTCAGAAAATATCATGAATTCAGAATATAAATGGATTCTGTACTAATGAAACAAATGAAGATGACATTAATTATAAGGGGGAAATTAGAAAACAAAAATGAGCTCTACGAATCAAAAATATAATACATGAATGTAAAAATAAGTAGAAATATAAAGTTGACAAATCTTTAAGAACACAGAAAAAAAAGGCAAACAGATATACTATAGAAAAGATAAGAGCAGGCA... | pathogenic | 108,521 |
Variant at chromosome position 49453627, chromosome 6, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TCCTGGCAATTCGAGCACTTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTT... | TCCTGGCAATTCGAGCACTTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTT... | pathogenic | 108,535 |
Is the genetic change at chromosome 6, position 49453645, within gene MMUT (methylmalonyl-CoA mutase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTT... | TTTTCACAGTTGGCAAACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTT... | pathogenic | 108,537 |
Assess the variant on chromosome 6, position 49453660, impacting MMUT (methylmalonyl-CoA mutase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | AACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAAT... | AACCCAAAGCTTCATCAAAAGAATTTGTGTGCAAAGACTGAGTCCCTCCAAATACTGCTGCCATTGCTTCTATTGCAGTACGGACAATATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAAT... | pathogenic | 108,538 |
A genetic variant on chromosome 6, position 49453747, affects the gene MMUT (methylmalonyl-CoA mutase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Methylmalonic_acidemia'] | TATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTGCCTAAATACTTTTCTATAAGTATATCAACAATGCATTCTTTTTCTACTTAAGATTA... | TATTATTGTAGGGATCCTAAAATATTTGATAAAAAACAAAAACTCAAAGAAACAGGTGATAGATATTGCAACTATAAACAGCAACATGATTAAACAGCAACTGCTGCATATTTTCTATGTCAATTTCCATATTAAGCTTCAGAATAGCAAATAAATTCAGACAAATTAGTTTAGAAGCCAAAATTAGAAGAGTCAGAGTTCAGTGTTTAGTGCCTCTTATAATCCTCTGAAATATCAGATATTGTTGTGCTTACTTTTATATTGCCTAAATACTTTTCTATAAGTATATCAACAATGCATTCTTTTTCTACTTAAGATTA... | pathogenic | 108,548 |
Variant at chromosome position 49456151, chromosome 6, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCC... | TGAATGAAATAAAACAGCAAATTTGCTTTGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCC... | pathogenic | 108,557 |
Is the genetic variant on chromosome 6, position 49456179, gene MMUT (methylmalonyl-CoA mutase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAG... | TGTTTAGCCAGAAAAGTGTTTTGTAAAAGAATGATTGTGCATTGGTCTAGGCATATACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAG... | pathogenic | 108,558 |
Is the variant located on chromosome 6 at position 49456235, gene MMUT (methylmalonyl-CoA mutase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | ACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACTGGGTTTCGC... | ACTTCTCCAATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACTGGGTTTCGC... | pathogenic | 108,561 |
For chromosome 6, position 49456243, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACTGGGTTTCGCCATGTTGG... | AATTTGTGCCCTTCACCTCTCCCTTTTATCTTATATTCTGTGCTGATTTAAACATTTAGGTTACTTGCCTGTCTCTAAAGGCACAAAGCTTGCAAATCTACTTCTGACACATTTTTGGAAGTTCTTTTTTTGAGACAGAGTCTTGTTCTATTGCACAGGCTGGAGTGCAATGAAGCAATGTCGGGTCACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTTGTGCCTCACCCTCCCAAGTAGCTGGAATTACAGACAAGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACTGGGTTTCGCCATGTTGG... | benign | 108,563 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 49457714, gene MMUT (methylmalonyl-CoA mutase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TGTTGTGAAACAAATGTTTCAACAGCACAGTGGATCCCAAAACATTACATTAGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCC... | TGTTGTGAAACAAATGTTTCAACAGCACAGTGGATCCCAAAACATTACATTAGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCC... | pathogenic | 108,567 |
Chromosome 6, position 49457765, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylmalonic_acidemia', 'Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | AGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATG... | AGATAGTGCAACAGAAAAAAAAATAATAATAGATGAATTCTGTATTCTAAAATGGAAAAATTAGAAAAAACTGTCTCAACATTATGTTTACATTTTAATGTAATTTGTTAAAATGTGGAACTTAATTGTGTTCTCTAAATAGCTGGAGACAAGATATTCCTCAAATTTACAAAGAAGTACAGCCAAATTTAATTCTATTTTTTATTAGAAATATTGGCTTTTTCTCTCATTATCACTCAGATAAAATATAAGAAAATCTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATG... | pathogenic | 108,572 |
Chromosome 6, position 49458022, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylmalonic_acidemia'] | CTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTAT... | CTAAATCTAGCCTGACATTTATATTTATAAATTCATTTTATCAATATATAAAATGGTCCTATGCATTTCTTAATGTTGAAACAATATCTAGGTTTAATTTACTCACCTTGGTGCAAATTCATCAATTGTCAGGCCAGCCTGGAGTCCAGTTCTAGAGTACTCCAATCCATCTGCTAAAGTATAGGCCAGCTCCAGAATGGCATCAGCCCCTGCTTCCTGCATATGGTATCCACTAATTGAAATTGAATTAAATTTTGGCATGTGCTACATAAAAAAAAAAATTGTAACAGTGAATAAGTAAAAATATTAAAAGGTCCTAT... | pathogenic | 108,592 |
Chromosome 6, position 49459106, gene MMUT (methylmalonyl-CoA mutase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | GGGTTGATGACGATTTTCTCTGTGCCATGAAATAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATA... | GGGTTGATGACGATTTTCTCTGTGCCATGAAATAATGATCTAACTTTAACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATA... | pathogenic | 108,600 |
Located at chromosome 6 position 49459154, the variant affecting gene MMUT (methylmalonyl-CoA mutase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | ACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAA... | ACGTAGGTAAGGAGAAGGAGTACGTTGCTGGTAAGAAGCAAAGAGTGAATAATGGGGGGAAATATAAACAAATTGCTCACAGGAAAATGAAGGAGGAAAATGTGTCCCTATGGAAGGATTTTTCCCATCATTCTTATTGGGAAAGATGAGCCTAATTCAAGGGTGAATATTAGGGACCTCCTTGAGGTTGCAGATATGAGTGATAAGTGATATCTTCCAATTCAGCTTTTAGCAGAAATAAAGCTGATATTCCAATCCCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAA... | pathogenic | 108,607 |
Located at chromosome 6 position 49459411, the variant affecting gene MMUT (methylmalonyl-CoA mutase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | CCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACA... | CCCATTTGTCTGATACCAGTGTCTACTTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACA... | pathogenic | 108,620 |
Is the genetic mutation found on chromosome 6 at position 49459437, within the gene MMUT (methylmalonyl-CoA mutase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency', 'Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAA... | TTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAA... | pathogenic | 108,622 |
Determine whether the variant at chromosome 6, position 49459437, in gene MMUT (methylmalonyl-CoA mutase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency'] | TTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAA... | TTCACAACTGCATCTGAATTTCGGAGGGAAATTTAAAAATGTAAGTAGAAGACCTCCCTGAATCTAACAATTATCAGAGTTAAATTTTAGGAATAAAGAAAACACAGTAAAGATCTGTTGCCCAGATTCCTGCAAGTAACGACAGAACATAAAATTAGTACATTAAAAACAAAAAGTAACAATAACAAAACATTCTAAATTTATATTACTCAGACTAAATTTTTAAATTCAGTTATAGCATGTTGTAAAAATTCCTACATTCAAGGAACTATAGAAAAACCTATAATAACCACAAAGTATACCTTTGCTGTATATTCAAA... | pathogenic | 108,623 |
Considering the genetic mutation at chromosome 6, position 51627005, impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAGAGTGACATGAGCAGACATGGATTTAAAGAGGGCTTAGATGGCTCTTGATATCAAAAAACCTGGCAACAGTAAAATAGGAGGGATGTATACTTTACTATCTTCTTCCCCCATCACAACTTTCTAGCACCCTGACCGTACCATGCCATTTTTGGTAAAAGCTGTAATGTGGTAAATTTATAATCTGAATCTAGTAGTCATGCTCAGTTCCAACAGCTCAATAATCCTAAGTGCTATGGCAGTGCTTAGTGAAGGCAAAGTGCTGGAGAGAGAGAGACAGCCAGTCACTTTATCAGCAAATGTTAAAAGTTTAAAAACAC... | AAGAGTGACATGAGCAGACATGGATTTAAAGAGGGCTTAGATGGCTCTTGATATCAAAAAACCTGGCAACAGTAAAATAGGAGGGATGTATACTTTACTATCTTCTTCCCCCATCACAACTTTCTAGCACCCTGACCGTACCATGCCATTTTTGGTAAAAGCTGTAATGTGGTAAATTTATAATCTGAATCTAGTAGTCATGCTCAGTTCCAACAGCTCAATAATCCTAAGTGCTATGGCAGTGCTTAGTGAAGGCAAAGTGCTGGAGAGAGAGAGACAGCCAGTCACTTTATCAGCAAATGTTAAAAGTTTAAAAACAC... | pathogenic | 108,664 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 51632517, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTACATGCAATGCATGTATTATTTTAAAATAAGTTAATGAATAAATTTAAAATTTTCTGTTTAAACTTCTAATTTGGAAATATTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAA... | TTACATGCAATGCATGTATTATTTTAAAATAAGTTAATGAATAAATTTAAAATTTTCTGTTTAAACTTCTAATTTGGAAATATTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAA... | benign | 108,672 |
Benign or pathogenic: chromosome 6, position 51632546, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant? Disease(s) if pathogenic? | benign | TAAGTTAATGAATAAATTTAAAATTTTCTGTTTAAACTTCTAATTTGGAAATATTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAATACAAATCACTTATACAGATCTGACTACT... | TAAGTTAATGAATAAATTTAAAATTTTCTGTTTAAACTTCTAATTTGGAAATATTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAATACAAATCACTTATACAGATCTGACTACT... | benign | 108,673 |
Variant in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), chromosome 6, position 51632599—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | TTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAATACAAATCACTTATACAGATCTGACTACTGTAAAACTTTCATAAAGTTCCTTGCAATTTCTTTACATCTTTTTTGTTTGTTT... | TTAATGGATATAGAACCCACATAGACAAAAGTTGTTTAGATTCTCAACAATTATTGAAAGCATAACAAGGTCCTTAGACCCAAATTGAAAATGACAGGCACAGAGAGCATATAGCTTAACCAGAGAATCTTTTTTTATGAGTAAGTTGTGGAACAATATATTTTTCTGATTCTGAAGAAATGAAAGTTAATTTTAGAAACTTAATAAATATAAAATACAGAAGGTATAAGGAAGAAAATACAAATCACTTATACAGATCTGACTACTGTAAAACTTTCATAAAGTTCCTTGCAATTTCTTTACATCTTTTTTGTTTGTTT... | pathogenic | 108,675 |
Is the genetic mutation found on chromosome 6 at position 51638898, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CATCTATTCTCTCCAAATTTAAACTTTTATAAATCTCATTCTGAAAGAGTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATT... | CATCTATTCTCTCCAAATTTAAACTTTTATAAATCTCATTCTGAAAGAGTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATT... | pathogenic | 108,688 |
Regarding the variant at chromosome 6 and position 51638916, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TTAAACTTTTATAAATCTCATTCTGAAAGAGTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATTAATTACTGAGGTAATTAA... | TTAAACTTTTATAAATCTCATTCTGAAAGAGTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATTAATTACTGAGGTAATTAA... | pathogenic | 108,689 |
Clinically, how would you classify the variant at chromosome 6, position 51638946, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATTAATTACTGAGGTAATTAAAGGACAAAGGCCTTTTAAATGTCAGACAAA... | GTCTCACCTAACAGACTTGATCTTGAAAATTAAGAGGAATAATTTAGTGAAAAACACTAAGGGAAAACTTTCCAAATGATTCTTCAGTTAGTTCTTTTTACAGGCTGTAAGTAGAAACTACAATAAAGCAGTAGTCTACTAAGTGTGAACACCAAGACCAGTTCAAAATCACAGGAGTTACCAAGAAGTTTCTGTCTACAATACATTTCGCATTTGGTTTTACAACCTATTCCTTAAAATAAACTTGATAACGTATTTGGTTAGTCTTAATTAATTACTGAGGTAATTAAAGGACAAAGGCCTTTTAAATGTCAGACAAA... | pathogenic | 108,690 |
Evaluate this variant at chromosome 6, position 51649181, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGTGGATAATATATTGTACTGTTTGACAACATAAAAATACAATGATTGAACAATTTCGTAATAAATTAATATGTGTCTCTTTTGTCTCTTTGAGTAGGTTGTATTTCAACGGTTTTGTGTGTGAGAGGGTTAAATAGGAACTTAGAACTCAGAAACTATTTTTCCCATAAAAATCATGTTACACCTGCTTGCTTCTCTCTAGACCAGGCCCTAAAATGCACATTATTGGGTCCTTCTGCAGAATATGTTGCCAAACTATCTTGGGCCTAGTAGAAATCTGCATTTTAAATAGATTTTCATATAAATGAGCTTCAAGGAAA... | TGTGGATAATATATTGTACTGTTTGACAACATAAAAATACAATGATTGAACAATTTCGTAATAAATTAATATGTGTCTCTTTTGTCTCTTTGAGTAGGTTGTATTTCAACGGTTTTGTGTGTGAGAGGGTTAAATAGGAACTTAGAACTCAGAAACTATTTTTCCCATAAAAATCATGTTACACCTGCTTGCTTCTCTCTAGACCAGGCCCTAAAATGCACATTATTGGGTCCTTCTGCAGAATATGTTGCCAAACTATCTTGGGCCTAGTAGAAATCTGCATTTTAAATAGATTTTCATATAAATGAGCTTCAAGGAAA... | pathogenic | 108,699 |
Determine if the mutation at chromosome 6, position 51658975 in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATTACAGGTGTGAGCCATCACGCCTGGCCCAAAGTTGGTAGCTTTTGAAAGTAGCTAGTACTCTCTTAGAAAAATGTGTCCAGTATGGCCTGAATTTGTTGAAATGCATATAAGCTCATTAAATTAACGAGAGCAAACCACTGGAGAACATCCTTGGTACTTTTCCATGAAAAAACTTAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTG... | ATTACAGGTGTGAGCCATCACGCCTGGCCCAAAGTTGGTAGCTTTTGAAAGTAGCTAGTACTCTCTTAGAAAAATGTGTCCAGTATGGCCTGAATTTGTTGAAATGCATATAAGCTCATTAAATTAACGAGAGCAAACCACTGGAGAACATCCTTGGTACTTTTCCATGAAAAAACTTAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTG... | pathogenic | 108,701 |
Variant on chromosome 6, at position 51659152, affecting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormality_of_the_genitourinary_system', 'Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAA... | TAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAA... | pathogenic | 108,707 |
Gene mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 51659170—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTAT... | AAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTAT... | pathogenic | 108,708 |
Is the chromosome 6, position 51659231 variant in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | ATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAA... | ATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAA... | pathogenic | 108,711 |
Located at chromosome 6 position 51659265, the variant affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | GGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAA... | GGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAA... | pathogenic | 108,712 |
Does the variant on chromosome 6 at location 51659269 affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACA... | GACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACA... | pathogenic | 108,713 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 51659273—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAAT... | CAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAAT... | pathogenic | 108,714 |
The genetic variant at chromosome 6, position 51659366, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGG... | TCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGG... | pathogenic | 108,716 |
Variant in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), located at chromosome 6 position 51659403: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTT... | CTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTT... | pathogenic | 108,720 |
Evaluate this variant at chromosome 6, position 51659477, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTC... | AGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTC... | pathogenic | 108,723 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 51659488, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTC... | ATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTC... | pathogenic | 108,724 |
A genetic variant on chromosome 6, position 51659490, affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTT... | CTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTT... | pathogenic | 108,725 |
The genetic variant at chromosome 6, position 51659673, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTC... | TGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTC... | pathogenic | 108,731 |
Does the variant impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6, position 51659714, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... | AAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTT... | pathogenic | 108,734 |
Gene mutation in PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 51659732—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGAT... | ATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGAT... | pathogenic | 108,735 |
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