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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 7 at position 92501913 in gene PEX1 (peroxisomal biogenesis factor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | AAAAGAGCTCAAGTCTAAACAGAAATGACTAAGTAGCAGCTAAAGATCAATGTATAGAAAAAAAATTCAGATGGTAATCACGACCATCTTTCTTTAGTAACAGCAAGTACAACAGTAGAAAATACAATTCCTACTAAAAACTGTAAATGAACTCAAAGGAACTACGACAAATTTTTTCCAATTAAGAACACATTCTATATAAAATGCATATAACTGCATCAGAACTTCTATTTTTCCTGTTTTATTAAAAGTACTACATTTAAAAAGTACAAACCAATCTTTTAACAAGTATAGTGCCTTTCATGGATATGCTTCATGGG... | AAAAGAGCTCAAGTCTAAACAGAAATGACTAAGTAGCAGCTAAAGATCAATGTATAGAAAAAAAATTCAGATGGTAATCACGACCATCTTTCTTTAGTAACAGCAAGTACAACAGTAGAAAATACAATTCCTACTAAAAACTGTAAATGAACTCAAAGGAACTACGACAAATTTTTTCCAATTAAGAACACATTCTATATAAAATGCATATAACTGCATCAGAACTTCTATTTTTCCTGTTTTATTAAAAGTACTACATTTAAAAAGTACAAACCAATCTTTTAACAAGTATAGTGCCTTTCATGGATATGCTTCATGGG... | pathogenic | 121,754 |
Is the genetic mutation found on chromosome 7 at position 92503100, within the gene PEX1 (peroxisomal biogenesis factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TACTGTAACTATCACCTCAGCTTTCCATTATAAGTTTCTTATCATCAAAGACTGCATCATACACATTAAAATCTGTCTGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTA... | TACTGTAACTATCACCTCAGCTTTCCATTATAAGTTTCTTATCATCAAAGACTGCATCATACACATTAAAATCTGTCTGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTA... | pathogenic | 121,764 |
A genetic alteration at chromosome 7, position 92503169, in gene PEX1 (peroxisomal biogenesis factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Heimler_syndrome_1', 'Inborn_genetic_diseases', 'Optic_atrophy', 'PEX1-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Retinal_dystrophy', 'Zellweger_spectrum_disorders'] | AATCTGTCTGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAA... | AATCTGTCTGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAA... | pathogenic | 121,767 |
Is the genetic variant on chromosome 7, position 92503177, gene PEX1 (peroxisomal biogenesis factor 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGC... | TGCCTGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGC... | pathogenic | 121,768 |
The mutation impacting PEX1 (peroxisomal biogenesis factor 1) on chromosome 7 at position 92503181: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGCCAAT... | TGGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGCCAAT... | pathogenic | 121,770 |
Variant in gene PEX1 (peroxisomal biogenesis factor 1), located at chromosome 7 position 92503182: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Zellweger_spectrum_disorders'] | GGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGCCAATA... | GGGCAACATAGCAAGACTCCGTCTCTAAGAAAATTAAAGAGTTGGCCGGGCATGGTGGTTCATGCCTGTAGTTCTAGCTACTGGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTGTGAGTGTACTCCAGCCTAGATGACAGAGTGAGGTCTCAATTCTAATAAAAAATTAATTAATAAAATTAAAATTTGTTAAAGTACCTAAAATAGTGTTAAGACATTTATTTGGTAACTCAGTAAACACTTGTTGACTCACACGGAGATTGGGCAAGCTGACACATAAAGCCAAAGCCAATA... | pathogenic | 121,771 |
The genetic variant at chromosome 7, position 92504763, affecting gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | GACTAAGTGCCATTATGTGATGGTGGAAAAAAAAAGTTTAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTG... | GACTAAGTGCCATTATGTGATGGTGGAAAAAAAAAGTTTAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTG... | pathogenic | 121,775 |
Is the chromosome 7, position 92504767 variant in PEX1 (peroxisomal biogenesis factor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | AAGTGCCATTATGTGATGGTGGAAAAAAAAAGTTTAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATT... | AAGTGCCATTATGTGATGGTGGAAAAAAAAAGTTTAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATT... | pathogenic | 121,776 |
Is chromosome 7, position 92504801, gene PEX1 (peroxisomal biogenesis factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACT... | TAATTAATGAAGTGTTTAAAAGCCATCTATCTATTTCTCTCTGTTCTTTCTCATTCAAAGAAATACCATTTTCAAAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACT... | pathogenic | 121,777 |
The genetic variant at chromosome 7, position 92504875, affecting gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | AAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGT... | AAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGT... | pathogenic | 121,779 |
Variant at chromosome 7, position 92504875, gene PEX1 (peroxisomal biogenesis factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | AAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGT... | AAAAAGTCATTTTCTTGGAAAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGT... | pathogenic | 121,780 |
Evaluate the clinical significance of the mutation at chromosome 7, position 92504894 in gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | AAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGTGCAACCAAACTTCCCATGG... | AAGCGCATACTAACATTTCAGGTGGCTATAAATTATAATTTATGCCTCTAGCACAATATGCACCAAATGTTGACTTACATATCCTTAAAATCATTAAGAGAAGCATAAATTTAAAGCCACGAATTACTAATAAAATTGAAAAATAATTTCTATAAAAGGGACATAATTCAATAATCCTTACAAGTAGTGTATTACCTGATTAGGAGGCTGAATGTGTTGGACGCACTGAAATATGTGAACTCCTTGAGCAGAAACAAGTAAAGGATGTAGAGATTGCTGAGACTGACTTGTGGCAATCAGTGCAACCAAACTTCCCATGG... | pathogenic | 121,781 |
Does the chromosome 7 mutation at position 92506256 within gene PEX1 (peroxisomal biogenesis factor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | CATCTCCTTGTTGGTCACCCTGGTCAAATTAATCTCTCTGAATTTCCATTTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAA... | CATCTCCTTGTTGGTCACCCTGGTCAAATTAATCTCTCTGAATTTCCATTTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAA... | pathogenic | 121,784 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 92506260, gene PEX1 (peroxisomal biogenesis factor 1): what disease(s) if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | TCCTTGTTGGTCACCCTGGTCAAATTAATCTCTCTGAATTTCCATTTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTG... | TCCTTGTTGGTCACCCTGGTCAAATTAATCTCTCTGAATTTCCATTTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTG... | pathogenic | 121,785 |
Considering the genetic mutation at chromosome 7, position 92506305, impacting PEX1 (peroxisomal biogenesis factor 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_1', 'PEX1-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTGCAGAATTTTCACACTGTTTTTACTCTACCAATTTTGCTATTACAG... | TTATTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTGCAGAATTTTCACACTGTTTTTACTCTACCAATTTTGCTATTACAG... | pathogenic | 121,786 |
A mutation at chromosome position 92506308 on chromosome 7 in gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | TTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTGCAGAATTTTCACACTGTTTTTACTCTACCAATTTTGCTATTACAGTCT... | TTGACCTGTAAAGCCCAGGGAATATCTTCATGTAGAATACAAAGCAATCCAAGAAAGCCAAGAAAGGGCTGGCTACTCATACACAGTAGCCATCATTATTAGTATCGTTCTGCGCTAATACTGTTCACCCTTCTTTTTCTCCTAGAATTTGAGAATACAGACTGTGCACAAGCATTTGACAAATATTTGTCAAATGAACAAAAGAGTAAATCTGTAAATTAAACAATAAGTAAGGGAGAATGAAAAACCCTAAAGGACTAACCATGAAGTTGCAGAATTTTCACACTGTTTTTACTCTACCAATTTTGCTATTACAGTCT... | pathogenic | 121,787 |
Clinical significance of chromosome 7, position 92507004, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TCAGGTTGTCCTTTTGAAAGCACTAGAAAAGCTCGATATTGATTTAACTATAAAAATTTGATCTATATTTTATTAATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGT... | TCAGGTTGTCCTTTTGAAAGCACTAGAAAAGCTCGATATTGATTTAACTATAAAAATTTGATCTATATTTTATTAATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGT... | pathogenic | 121,792 |
Evaluate this variant at chromosome 7, position 92507069, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | TATTTTATTAATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGG... | TATTTTATTAATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGG... | pathogenic | 121,795 |
Does the variant on chromosome 7 at location 92507079 affecting gene PEX1 (peroxisomal biogenesis factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | ATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGC... | ATATACCCATCACAAAAACTTGTTCATCAACATGGTTCAATTAATACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGC... | pathogenic | 121,796 |
Gene PEX1 (peroxisomal biogenesis factor 1) variant at chromosome 7, position 92507124—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | ACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGCTATAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCTACA... | ACAGTCTCAAAGCGTGCAGTAAAGTATCAAATTTTATAAAACTCAGAAAAGGAGGCCAGGTGCAGTGGCTTATGCTAGTAATCCCAGCACTTTGGGAAACCAAGGCAGGCAGATCACTTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAATTACTCGGGAGGTTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGCTATAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCTACA... | pathogenic | 121,797 |
A genetic variant at chromosome 7, position 92510943, affecting gene PEX1 (peroxisomal biogenesis factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder', 'Zellweger_spectrum_disorders'] | AATTTGAAATATTTTTAAACATTCAACTAATGTTTTTGGCTTTAACTTTTAAAATGTATTTATTTGTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGC... | AATTTGAAATATTTTTAAACATTCAACTAATGTTTTTGGCTTTAACTTTTAAAATGTATTTATTTGTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGC... | pathogenic | 121,803 |
Variant in gene PEX1 (peroxisomal biogenesis factor 1), located at chromosome 7 position 92511003: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B'] | TATTTGTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGC... | TATTTGTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGC... | pathogenic | 121,805 |
A mutation at chromosome position 92511008 on chromosome 7 in gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | GTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGCCAGAT... | GTTCTAAGAATTATTGTTTTATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGCCAGAT... | pathogenic | 121,806 |
The mutation in gene PEX1 (peroxisomal biogenesis factor 1) at chromosome 7, position 92511028—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | ATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGCCAGATATAGTGTTAAAAACATGTCT... | ATTCAAGCATATATGATCCACGTGATATCTAGTTGCTTTCTTCTCATCGATCAATTCTCAAAGTAAAATTTCTAATAAGCTTCAGACTTCTTGTTATCGAAGAAGACAAGGTTATCCCCTACCACCAGGGATGGATAAAAACATAAAAATAAAGAGAAAAAAAAAAAGACGACAAGGCAAATTATAAGCTAGGCGTGAAGATAGAGACAATCCTTGAAAAAATATCTACTGATGCATTATTAAGATCACTTATTGACATTAACATCTACTTTAATATTTACATTGAAAACTCTGCCAGATATAGTGTTAAAAACATGTCT... | pathogenic | 121,808 |
Does the chromosome 7 mutation at position 92511637 within gene PEX1 (peroxisomal biogenesis factor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TATTTATGGTCAACAAGCAGAAAGAATGTTATTGCCTTAATACATTTTACAGGTATATTTTTATCTATAATTTTGATTTGTGTCACAATTATCCTTTTCACAATTCTTACATTTGTATCTTCTCCAAATGGTATTCCTTCAATAACATTTCAAAAATAAAGAAACAATGTCTAGTTCCAAAACAATGAAATTCTAAATGACTAGAGTATCTTCAATTTTATGACAAGAATGAATGTCCTAATCAAAAAATAATATTGTAAAAAGACCACTCTTGGCTGGGTGTGGTGGTTTACACTTAGAATCCCAGCACTTTGGGAGGC... | TATTTATGGTCAACAAGCAGAAAGAATGTTATTGCCTTAATACATTTTACAGGTATATTTTTATCTATAATTTTGATTTGTGTCACAATTATCCTTTTCACAATTCTTACATTTGTATCTTCTCCAAATGGTATTCCTTCAATAACATTTCAAAAATAAAGAAACAATGTCTAGTTCCAAAACAATGAAATTCTAAATGACTAGAGTATCTTCAATTTTATGACAAGAATGAATGTCCTAATCAAAAAATAATATTGTAAAAAGACCACTCTTGGCTGGGTGTGGTGGTTTACACTTAGAATCCCAGCACTTTGGGAGGC... | pathogenic | 121,811 |
Clinically, how would you classify the variant at chromosome 7, position 92511668, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TTGCCTTAATACATTTTACAGGTATATTTTTATCTATAATTTTGATTTGTGTCACAATTATCCTTTTCACAATTCTTACATTTGTATCTTCTCCAAATGGTATTCCTTCAATAACATTTCAAAAATAAAGAAACAATGTCTAGTTCCAAAACAATGAAATTCTAAATGACTAGAGTATCTTCAATTTTATGACAAGAATGAATGTCCTAATCAAAAAATAATATTGTAAAAAGACCACTCTTGGCTGGGTGTGGTGGTTTACACTTAGAATCCCAGCACTTTGGGAGGCTGAGGAGGGCAGATCACTTGAGGTCAGGAGT... | TTGCCTTAATACATTTTACAGGTATATTTTTATCTATAATTTTGATTTGTGTCACAATTATCCTTTTCACAATTCTTACATTTGTATCTTCTCCAAATGGTATTCCTTCAATAACATTTCAAAAATAAAGAAACAATGTCTAGTTCCAAAACAATGAAATTCTAAATGACTAGAGTATCTTCAATTTTATGACAAGAATGAATGTCCTAATCAAAAAATAATATTGTAAAAAGACCACTCTTGGCTGGGTGTGGTGGTTTACACTTAGAATCCCAGCACTTTGGGAGGCTGAGGAGGGCAGATCACTTGAGGTCAGGAGT... | pathogenic | 121,813 |
Evaluate this variant at chromosome 7, position 92517306, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | AAACTCTAAGGTACATATTCTGACTTAAAGAGAATTTAACAATCAAGTTTCCTGTTTGTTTGTTGTTTTTTTTTAATCACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAA... | AAACTCTAAGGTACATATTCTGACTTAAAGAGAATTTAACAATCAAGTTTCCTGTTTGTTTGTTGTTTTTTTTTAATCACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAA... | pathogenic | 121,820 |
Classify the chromosome 7 variant at position 92517331 affecting gene PEX1 (peroxisomal biogenesis factor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TAAAGAGAATTTAACAATCAAGTTTCCTGTTTGTTTGTTGTTTTTTTTTAATCACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTA... | TAAAGAGAATTTAACAATCAAGTTTCCTGTTTGTTTGTTGTTTTTTTTTAATCACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTA... | pathogenic | 121,821 |
Regarding the variant found on chromosome 7 at position 92517383 in gene PEX1 (peroxisomal biogenesis factor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | CACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAG... | CACCATGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAG... | pathogenic | 121,823 |
A mutation at chromosome position 92517388 on chromosome 7 in gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGC... | TGCTTCACAGGGTAATAAAGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGC... | pathogenic | 121,824 |
Assess the variant on chromosome 7, position 92517406, impacting PEX1 (peroxisomal biogenesis factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | AGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACG... | AGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACG... | pathogenic | 121,825 |
For chromosome 7, position 92517406, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | AGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACG... | AGGTTCAAGTTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACG... | pathogenic | 121,826 |
Variant in PEX1 (peroxisomal biogenesis factor 1), chromosome 7, position 92517415—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_due_to_PEX1_defect', 'Zellweger_spectrum_disorders'] | TTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTA... | TTAACATGAATTTGTTAGTTGTATCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTA... | pathogenic | 121,827 |
Does the variant impacting PEX1 (peroxisomal biogenesis factor 1) on chromosome 7, position 92517438, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCT... | TCACCAAGTGATCAATTTTGATCTCTCAAGCCAAGTCCATTTTAGTACCTGATTTCACCTACTGTGACTTCTCATTGTCCATGGCTCTTCAACCTTCAGTGGAGTGGGAAGGGCGGAGTCCTTATTGCTATCTTAATCACAGGACTTTACCATCAGCACTTCTCCCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCT... | pathogenic | 121,830 |
Located at chromosome 7 position 92517602, the variant affecting gene PEX1 (peroxisomal biogenesis factor 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | CCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTA... | CCTGTTCTCACCATATAATTTCAAGGAAATAAAAGGATATTCCCATCTAATGACAGAACCAGCTAAATCATAAGCTCAGTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTA... | pathogenic | 121,834 |
The genetic variant at chromosome 7, position 92517680, affecting gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Zellweger_spectrum_disorders'] | GTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTG... | GTGTTAGATATTTTGAATTTGAGGATGCAGTGGGATCTCCTGAACGGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTG... | pathogenic | 121,837 |
Assess the variant on chromosome 7, position 92517725, impacting PEX1 (peroxisomal biogenesis factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Zellweger_spectrum_disorders'] | GGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAA... | GGACAGTTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAA... | pathogenic | 121,840 |
Does the variant on chromosome 7 at location 92517731 affecting gene PEX1 (peroxisomal biogenesis factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Heimler_syndrome_1', 'Inborn_genetic_diseases', 'PEX1-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGA... | TTTAAAGCTAACAGAAAATAATGATCTGAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGA... | pathogenic | 121,841 |
The genetic variant at chromosome 7, position 92517793, affecting gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | GCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAA... | GCACCTTGGGAGACTGAGGCAGGCGGATCACTTGAGACCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAA... | pathogenic | 121,842 |
A genetic alteration at chromosome 7, position 92517854, in gene PEX1 (peroxisomal biogenesis factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | CAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTT... | CAACATGGTGAAACCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTT... | pathogenic | 121,843 |
Does the genetic variant at chromosome 7, position 92517867, impacting gene PEX1 (peroxisomal biogenesis factor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Heimler_syndrome_1', 'PEX1-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | CCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTTTAGAAAATGATGT... | CCTCGTCCCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGCACACTTGTAGTCCCAGCTACTCTGAAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGTGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTTTAGAAAATGATGT... | pathogenic | 121,844 |
Is chromosome 7, position 92517973, gene PEX1 (peroxisomal biogenesis factor 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Heimler_syndrome_1', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | TGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTTTAGAAAATGATGTAGGCCGGCCAGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACATG... | TGGAGGTTGTAGTGAGTGGAGGTGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGCTTCTAACTCAAAAAAAGAAAAGAAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAATGGTCTGGAGCTTTAGAAAATGATGTAGGCCGGCCAGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACATG... | pathogenic | 121,847 |
Evaluate this variant at chromosome 7, position 92522105, gene PEX1 (peroxisomal biogenesis factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | AGAGACTCAGTTTCTTAGTGGCATTGCTGCAATAAGGGATCTAAAAAAATCAGGTAAAGTCACTTCAAAGCAAATGGGAGTTAAAAACAAGTAGGATTCTTCAGAGTACTAATTAAGACTTGAAAATCAGGAAGTTGATGTTGCCCACAGGGAAGTGCTGGGTACTCAGAGGGCAGAACTGTAACCTGCTAAGCAATCCTGGGTAAAATATTCCATCTCCTTGTATTGTAGAACAAAGCACCAAAGTTAATGATTTCTAAGGTCCGTCTGGTGCTAAAATTTTAAGATTCTAGCAACAATTTAGAGTATGCAAGGGACTA... | AGAGACTCAGTTTCTTAGTGGCATTGCTGCAATAAGGGATCTAAAAAAATCAGGTAAAGTCACTTCAAAGCAAATGGGAGTTAAAAACAAGTAGGATTCTTCAGAGTACTAATTAAGACTTGAAAATCAGGAAGTTGATGTTGCCCACAGGGAAGTGCTGGGTACTCAGAGGGCAGAACTGTAACCTGCTAAGCAATCCTGGGTAAAATATTCCATCTCCTTGTATTGTAGAACAAAGCACCAAAGTTAATGATTTCTAAGGTCCGTCTGGTGCTAAAATTTTAAGATTCTAGCAACAATTTAGAGTATGCAAGGGACTA... | pathogenic | 121,860 |
A genetic alteration at chromosome 7, position 92528355, in gene PEX1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Heimler_syndrome_1', 'PEX1-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_1A_(Zellweger)', 'Peroxisome_biogenesis_disorder_1B', 'Zellweger_spectrum_disorders'] | GAACATCTGTATTCTTAAAAGCTTCAAGGTAAGTCTGACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCT... | GAACATCTGTATTCTTAAAAGCTTCAAGGTAAGTCTGACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCT... | pathogenic | 121,866 |
A genetic variant on chromosome 7, position 92528378, affects the gene PEX1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | TCAAGGTAAGTCTGACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAA... | TCAAGGTAAGTCTGACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAA... | pathogenic | 121,867 |
Is the chromosome 7, position 92528392 variant in PEX1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | ACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATG... | ACATAGGCCAGAAAACCATTGTTCCAACCCTTCTTCCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATG... | pathogenic | 121,868 |
Gene mutation in PEX1 at chromosome 7, position 92528427—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Heimler_syndrome_1', 'Zellweger_spectrum_disorders'] | CCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAA... | CCCATTACTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAA... | pathogenic | 121,869 |
Gene SAMD9 (sterile alpha motif domain containing 9) variant at chromosome 7, position 93102446—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTGATAAATCCATTAGAAATTTTTGTTTTTTAATCAGCTTTCCACTTAATGGTTTTGGCAGCCATTGATGACTGCCCATATCCATAATTTTATTAGGGGAAAATTACATTTTGATTACGTATCGCTGGTTGTTTTTGTTCAAAACATAGGTTGTATGTTAATCTGCCAGTACATTGGCATCTTCTGGATGAGGGACTCATTAGTCTTCTCACAAGAGTCCCTTTTGTTCATTAGCTTGTGGAATTTGAGTGTCTGTATGTTTTTTTTTTAATTGTTTGTTTGGAGGGGAGTTGATAAGCTAATTAGCTATAGAGACAAAT... | TTGATAAATCCATTAGAAATTTTTGTTTTTTAATCAGCTTTCCACTTAATGGTTTTGGCAGCCATTGATGACTGCCCATATCCATAATTTTATTAGGGGAAAATTACATTTTGATTACGTATCGCTGGTTGTTTTTGTTCAAAACATAGGTTGTATGTTAATCTGCCAGTACATTGGCATCTTCTGGATGAGGGACTCATTAGTCTTCTCACAAGAGTCCCTTTTGTTCATTAGCTTGTGGAATTTGAGTGTCTGTATGTTTTTTTTTTAATTGTTTGTTTGGAGGGGAGTTGATAAGCTAATTAGCTATAGAGACAAAT... | benign | 121,954 |
Variant at chromosome 7, position 93468823, gene CALCR (calcitonin receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATCATTTTGCTTTGGGACTAACTGGAGTTGAGAAATATTCTACTTTGCCCTTGTGCCACACTTTAACACACCCATCTTCAGTAGCTTAATATAGAAATGATCGTTGAAAAAAAAATTCTTAATTTCTTTGCTGATTTGGCTCTCACATCTCCTCACTTATTTAAGTGACTGGAGAAATAAAGAATTAAGATCTATGCCTTTGACATTATTACCTTTAAAGTCCTGACTACAATTAGTTGCATGATTACAAATTTGGGGAATTTTTCTTTCAATTTTTTTATGATTATATTTAAAAAACTTAAAAAATATGCTTTAGTGGC... | ATCATTTTGCTTTGGGACTAACTGGAGTTGAGAAATATTCTACTTTGCCCTTGTGCCACACTTTAACACACCCATCTTCAGTAGCTTAATATAGAAATGATCGTTGAAAAAAAAATTCTTAATTTCTTTGCTGATTTGGCTCTCACATCTCCTCACTTATTTAAGTGACTGGAGAAATAAAGAATTAAGATCTATGCCTTTGACATTATTACCTTTAAAGTCCTGACTACAATTAGTTGCATGATTACAAATTTGGGGAATTTTTCTTTCAATTTTTTTATGATTATATTTAAAAAACTTAAAAAATATGCTTTAGTGGC... | benign | 122,282 |
Evaluate if the mutation on chromosome 7 at position 94395819 in COL1A2 (collagen type I alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GATGTGCTAGGGGAGGTGCTTGGGTGTGGCTGTAAGAGATGGGACAGAGAGTAAGCAGCAAGGTCAAGAGGGACCGGGGGGCTCACGGGAGGGTTGAAGGGTCCAGGCTCAGGGTAGAACTGGTAAATCCAGACAAGGAGCCCATGGAGAAGGGGAGGGGAGACTGGAAACCATGAAAGATCCCCCACCGCAGCCTCAGAAAGGAGAGACTGAGAAATAAGTTCTCGGTCTCCAGGTCGGTTGGAGTCGTGTCGGAGTGCCAGACCATCCCCCAAAAGACCCTCTTTGGAATGAGCCTCAGCAAAGGCAAGCTAGGAGGT... | GATGTGCTAGGGGAGGTGCTTGGGTGTGGCTGTAAGAGATGGGACAGAGAGTAAGCAGCAAGGTCAAGAGGGACCGGGGGGCTCACGGGAGGGTTGAAGGGTCCAGGCTCAGGGTAGAACTGGTAAATCCAGACAAGGAGCCCATGGAGAAGGGGAGGGGAGACTGGAAACCATGAAAGATCCCCCACCGCAGCCTCAGAAAGGAGAGACTGAGAAATAAGTTCTCGGTCTCCAGGTCGGTTGGAGTCGTGTCGGAGTGCCAGACCATCCCCCAAAAGACCCTCTTTGGAATGAGCCTCAGCAAAGGCAAGCTAGGAGGT... | benign | 122,297 |
Variant at chromosome 7, position 94397731, gene COL1A2 (collagen type I alpha 2 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CCCAATTAAAGCTTCTACGGATTTATACAGATTAATGATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTT... | CCCAATTAAAGCTTCTACGGATTTATACAGATTAATGATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTT... | benign | 122,298 |
Chromosome 7, position 94397731, gene COL1A2 (collagen type I alpha 2 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCAATTAAAGCTTCTACGGATTTATACAGATTAATGATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTT... | CCCAATTAAAGCTTCTACGGATTTATACAGATTAATGATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTT... | benign | 122,299 |
Benign or pathogenic: chromosome 7, position 94397768, gene COL1A2 (collagen type I alpha 2 chain) variant? Disease(s) if pathogenic? | benign | ATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTTCCCATGAGTCTGACACCAATTTGCTGCGTGACTTTGG... | ATCAGCATTTCTGGTTGGAGCCTTTCCCAGTGGCTAGTCAGTGAACCCTGGAAAGAAGAATGGATGCTACTTGGAGTGGGTACATTCTGAAAAGTAATATAAGTGTCTCAATTCACTTTCTAGTCATGGAAATGGTAACATTTTTTAACTCAAATCTGCTCTAAATTTTGTTTGAGCCTGAGAATTACCCCTTTGACATGTTCCCAGTGATAAGCAAACATTATGAACGCAGCAAGTTGAGAAATATCAACATTGAGATGAGACTCAAGAGACCGGGGTTTTTCCCATGAGTCTGACACCAATTTGCTGCGTGACTTTGG... | benign | 122,300 |
Considering the variant on chromosome 7, location 94404892, involving gene COL1A2 (collagen type I alpha 2 chain), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['COL1A2-related_disorder', 'Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_2', 'Ehlers-Danlos_syndrome,_arthrochalasia_type,_2', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Osteogenesis_imperfecta_type_I'] | ATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTCATTTTTAAAAAGCCCACTAAGCTGG... | ATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTCATTTTTAAAAAGCCCACTAAGCTGG... | pathogenic | 122,339 |
Benign or pathogenic: chromosome 7, position 94405664, gene COL1A2 (collagen type I alpha 2 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Osteogenesis_imperfecta,_mild', 'Osteogenesis_imperfecta_type_I'] | ATAATTAAAATGACATACATTTTAGATAAAATCCATGTTATTTCACTCTAGGCATTAATACAGTAAGGTAGGTTTGACTGCAGAGTCCCCACAGCTGATGTCATGAACAAATTACTTGAGACTGGTACATGAAATATTTTCAGCATTATGAGGAACAGACCCTACGGATGAGCTTACACAGGCACTGATTACTGCAAAGAGGAGTCAAGAAAGTGTATTTAGCTTACAAACTATTAACAGCCTGTTTTACCCTACTTTTGTGCTATGGAAACAACAAAGGGGAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAA... | ATAATTAAAATGACATACATTTTAGATAAAATCCATGTTATTTCACTCTAGGCATTAATACAGTAAGGTAGGTTTGACTGCAGAGTCCCCACAGCTGATGTCATGAACAAATTACTTGAGACTGGTACATGAAATATTTTCAGCATTATGAGGAACAGACCCTACGGATGAGCTTACACAGGCACTGATTACTGCAAAGAGGAGTCAAGAAAGTGTATTTAGCTTACAAACTATTAACAGCCTGTTTTACCCTACTTTTGTGCTATGGAAACAACAAAGGGGAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAA... | pathogenic | 122,347 |
Evaluate this variant at chromosome 7, position 94406413, gene COL1A2 (collagen type I alpha 2 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGACCTAGAGGCCCACCTGGTGCAGCTGGAGCCCCAGTAAGTACTGAAAGCTTGTAATGCCTCTTATGTAAAAAGACAGAGAATTAAGAAATAAAGGCTTGGAGTATGACATTCTTTTTT... | TGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGGCTTAATGGGACCTAGAGGCCCACCTGGTGCAGCTGGAGCCCCAGTAAGTACTGAAAGCTTGTAATGCCTCTTATGTAAAAAGACAGAGAATTAAGAAATAAAGGCTTGGAGTATGACATTCTTTTTT... | benign | 122,361 |
Classify the chromosome 7 variant at position 94409383 affecting gene COL1A2 (collagen type I alpha 2 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type', 'Ehlers-Danlos_syndrome,_classic_type,_1', 'Osteogenesis_imperfecta_type_I'] | TTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACT... | TTAAATCCCACTACTACTACTACTACTACCCTGGTTTTTACTCAGGATAAGAATATAGATTGGAAATAAATATGATGGCTCTAAAAAATACCATGAAGCTTCAATTTTTCATGCACATTTTATGAAAGTGATAACACTGAGTGTTCAAAATAACTTTAAAAAGGATAAATATGGTTACATTGAAAGCAAATTTATCCTTTGCCATCTCTTTTTATGATATTGTTTCTAGTATATAATTGATATCCTGAATCTAAGGGAGAAATTGGGGAGGAGGTACACTCAAATAACCACATCTCCTTAGAACCTGGATATGTGGTACT... | pathogenic | 122,399 |
Mutation at chromosome 7, position 94410960, within COL1A2 (collagen type I alpha 2 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTAT... | AATTACGAAACAGTTACCTTAATTATTCCTTCCCTTCAAAATGGACATAGAATGACCAGTTTTCTCACTCTACATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTAT... | benign | 122,455 |
Benign or pathogenic: chromosome 7, position 94411033, gene COL1A2 (collagen type I alpha 2 chain) variant? Disease(s) if pathogenic? | benign | ATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGT... | ATTTGAAATAGATCATTTCTCTGCACTGTGCACTGTGCCCATCGATATAGATGACAACATGGAAATTGTCTCTAGGACTAGTTAGTTAGGACTGACTGAGAACCAGAGTCAACCACAGAGAGACAGAAGGAGAGGGAAGGTAGTAACAGTAGCCAAGATGGCAGAATCAAGCAAGGAAAATAGGAAACCAAACTCAAATCTTGTAATAAAACGGATAAGAAAAATAATTGCAATTTTGAAGTTTTATGAAGACATTTCATAAAACTTGGCATCTTAAAAACAGATATGCTGTTTCATTATTTGCTGGTTAATTCCTTGGT... | benign | 122,457 |
Is the genetic change at chromosome 7, position 94425856, within gene COL1A2 (collagen type I alpha 2 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta,_perinatal_lethal'] | TGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCT... | TGGTCTCGATCTCCTGACCTCAGGTGATCCACCCACCTTGACCTCCTAAAGTGCTGGGATTACACATGTGAGCCACCCCACCCAGCCTGATTTCCTTTCCTTTGTGTATATACCCAGCAGTGTGATTGCTGGATCTTATGGTAGTTCTATTTTTAGTTTTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCT... | pathogenic | 122,621 |
Variant on chromosome 7, at position 94426014, affecting COL1A2 (collagen type I alpha 2 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ehlers-Danlos_syndrome,_classic_type,_1', 'Inborn_genetic_diseases', 'Osteogenesis_imperfecta_type_I'] | TTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATCTTCAAGCCAACCTGTG... | TTTTGAGGAACCCCTCCTACTATGTACAACTATTATGTATCCATAACAATTTAAATTTTTTTATTTGTTTCCCTGCCTAGAGGCTATAAAAACTCTATTTCACCACCCCAAGTGTCTTTATAAATCTCAACCACATATTTTTAAATGTTGTGCCATTGGTCTCAAGGATGAATCAGATACAAAAGTATTCATGCCAAGATGTAAACTCACCGTCATCACTAGAGAAAAGATATCCAAGGATATGTCCTAGTAATAGGAGGTCATTAGCCTTTTTCTAAGCTGAAGACAGTTTATTCTCACAATCTTCAAGCCAACCTGTG... | pathogenic | 122,623 |
Variant at chromosome 7, position 94431047, gene COL1A2 (collagen type I alpha 2 chain): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GTTCATCTAGGTAACTGATACTTCAAAGACAAGTGAATTAAGTTTTCTTTAAAAGTACCCTTTTCCTAAGCTTGGATCTGAGTCTACTCTTCCTGAGATCTTTTTTTTTCTTTTTTTTTTTTTTCATGTTTGACTCTTAGTATCTGAGTCCTTCTCCACTTAACTGGAATTTCATCCTATTTTCTGTAGTTTGAATATAATGTAGAAGGAGTGACTTCCAAGGAAATGGCTACCCAACTTGCCTTCATGCGCCTGCTGGCCAACTATGCCTCTCAGAACATCACCTACCACTGCAAGAACAGCATTGCATACATGGATGA... | GTTCATCTAGGTAACTGATACTTCAAAGACAAGTGAATTAAGTTTTCTTTAAAAGTACCCTTTTCCTAAGCTTGGATCTGAGTCTACTCTTCCTGAGATCTTTTTTTTTCTTTTTTTTTTTTTTCATGTTTGACTCTTAGTATCTGAGTCCTTCTCCACTTAACTGGAATTTCATCCTATTTTCTGTAGTTTGAATATAATGTAGAAGGAGTGACTTCCAAGGAAATGGCTACCCAACTTGCCTTCATGCGCCTGCTGGCCAACTATGCCTCTCAGAACATCACCTACCACTGCAAGAACAGCATTGCATACATGGATGA... | benign | 122,698 |
Evaluate this variant at chromosome 7, position 94588738, gene SGCE: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CAGGGCTTCGCCATGTCGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCTCCATTTAGTTTTAAATGTACCAGAGGCACAAACACACCAATCTTGCATAATTATAAAAAAAAATGCTAGGGTGGTCTCTCTCCCTTTGGCACTTAAGATATTTTGGGGACTCACTAAATAAAACAATAACAACAAAACAACCAAGAGGAGATACTGTACTTTAGTCTATAATATGATCCAAATTGCAGAAAAATGTAAGAAAACAAG... | CAGGGCTTCGCCATGTCGGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCTCCATTTAGTTTTAAATGTACCAGAGGCACAAACACACCAATCTTGCATAATTATAAAAAAAAATGCTAGGGTGGTCTCTCTCCCTTTGGCACTTAAGATATTTTGGGGACTCACTAAATAAAACAATAACAACAAAACAACCAAGAGGAGATACTGTACTTTAGTCTATAATATGATCCAAATTGCAGAAAAATGTAAGAAAACAAG... | benign | 122,702 |
Does the chromosome 7 mutation at position 94598814 within gene SGCE classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Myoclonic_dystonia_11'] | GATTTGTTTCATGTTAGAATTCTGCAGTGTTGCTACTACTTTTTTCCAAGTGTATTTGATCATTCCATTTTTTTGAAGGATATCTGTCAACATTTCACTGGCACGCTAGGGTAAACAATATCAGAAATAATAACCTTAAAGAATAAGTACAAATTCTTTTCATTTTGAAAATGAATGATAAAGCCATTTCATAATTTTCATCTAAAAAGGGATAAGAGGTTGTTAAATTCTGAATTATTACAATATTCTTGAAATTTTACCAATTTTTCTCATCAGTATCTAATCCCGGTAAACTGGGTTTTATGATGACCCATAATAGG... | GATTTGTTTCATGTTAGAATTCTGCAGTGTTGCTACTACTTTTTTCCAAGTGTATTTGATCATTCCATTTTTTTGAAGGATATCTGTCAACATTTCACTGGCACGCTAGGGTAAACAATATCAGAAATAATAACCTTAAAGAATAAGTACAAATTCTTTTCATTTTGAAAATGAATGATAAAGCCATTTCATAATTTTCATCTAAAAAGGGATAAGAGGTTGTTAAATTCTGAATTATTACAATATTCTTGAAATTTTACCAATTTTTCTCATCAGTATCTAATCCCGGTAAACTGGGTTTTATGATGACCCATAATAGG... | pathogenic | 122,707 |
Is the chromosome 7, position 94598876 variant in SGCE clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Myoclonic_dystonia_11'] | TTCCATTTTTTTGAAGGATATCTGTCAACATTTCACTGGCACGCTAGGGTAAACAATATCAGAAATAATAACCTTAAAGAATAAGTACAAATTCTTTTCATTTTGAAAATGAATGATAAAGCCATTTCATAATTTTCATCTAAAAAGGGATAAGAGGTTGTTAAATTCTGAATTATTACAATATTCTTGAAATTTTACCAATTTTTCTCATCAGTATCTAATCCCGGTAAACTGGGTTTTATGATGACCCATAATAGGTGGGCTACTGACCACCAGAGAGCATAGAAACCCATCCGTTGCATTCAGTACAACTAAATTTT... | TTCCATTTTTTTGAAGGATATCTGTCAACATTTCACTGGCACGCTAGGGTAAACAATATCAGAAATAATAACCTTAAAGAATAAGTACAAATTCTTTTCATTTTGAAAATGAATGATAAAGCCATTTCATAATTTTCATCTAAAAAGGGATAAGAGGTTGTTAAATTCTGAATTATTACAATATTCTTGAAATTTTACCAATTTTTCTCATCAGTATCTAATCCCGGTAAACTGGGTTTTATGATGACCCATAATAGGTGGGCTACTGACCACCAGAGAGCATAGAAACCCATCCGTTGCATTCAGTACAACTAAATTTT... | pathogenic | 122,708 |
Chromosome 7, position 94599698, gene SGCE: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Myoclonic_dystonia_11'] | AAAAGCCAACTTCATGACTTCTAGTGCTTAGGGCAATTGAATTCAACTCATTTTAACATTTGGTTAAAAAGAAAAAAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGTACTTTGGAGGCTGAGGCAGGCAGATCACCTAGGCCAGGATTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCCCTACTAAAAATACAAAAATTAGCTGGGCATGGGGGCAGGTGCGTATAATCCGAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCGCTCCATT... | AAAAGCCAACTTCATGACTTCTAGTGCTTAGGGCAATTGAATTCAACTCATTTTAACATTTGGTTAAAAAGAAAAAAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGTACTTTGGAGGCTGAGGCAGGCAGATCACCTAGGCCAGGATTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCCCTACTAAAAATACAAAAATTAGCTGGGCATGGGGGCAGGTGCGTATAATCCGAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCCAAGATCGCTCCATT... | pathogenic | 122,711 |
Located at chromosome 7 position 94600802, the variant affecting gene SGCE—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Myoclonic_dystonia_11'] | TGGCTCTAAGTGGACACTTACTGCTGCGTTTGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACA... | TGGCTCTAAGTGGACACTTACTGCTGCGTTTGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACA... | pathogenic | 122,715 |
Regarding the variant at chromosome 7 and position 94600817, affecting gene SGCE: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Myoclonic_dystonia_11'] | ACTTACTGCTGCGTTTGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGG... | ACTTACTGCTGCGTTTGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGG... | pathogenic | 122,716 |
Is the genetic change at chromosome 7, position 94600832, within gene SGCE benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Myoclonic_dystonia_11'] | TGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGGCATTCAATAAACTAT... | TGCATCAATGGCATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGGCATTCAATAAACTAT... | pathogenic | 122,717 |
Determine if the mutation at chromosome 7, position 94600843 in gene SGCE is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Myoclonic_dystonia_11'] | CATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGGCATTCAATAAACTATTTCAGAAAGGC... | CATGTTTGTGCTATCATAGTTGTCTGTGTGTAAAGGAGGTATGATTTCCCCAGTCACAGGGTGGAACACAGGAAGCGTTGACAGGGGCCATGCTATCTCTCTATTCTTGGACATGTCTCGAAGCTCCTTGGTAGATTTCTGAATAGCACTGTGATGGACCAGTTGGATGCTAGGTCAAAAAGAAATAAAACAACATATATTTAAAATCATATATTAGCCTGATGGGTCATCAATTTGAAAAACTTATGAAGTATTTTTATCTTTTAAAATAATAAGACATTATGGCACTTTGGGCATTCAATAAACTATTTCAGAAAGGC... | pathogenic | 122,718 |
Does the genetic variant at chromosome 7, position 94603287, impacting gene SGCE, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Myoclonic_dystonia_11'] | CCAAACCTAAAACTGGCTGAAAACCAGGTATGCACGTATGGTTTCTAAGTTTAGCAAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTT... | CCAAACCTAAAACTGGCTGAAAACCAGGTATGCACGTATGGTTTCTAAGTTTAGCAAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTT... | pathogenic | 122,719 |
Regarding the variant found on chromosome 7 at position 94603331 in gene SGCE: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Myoclonic_dystonia_11'] | CTAAGTTTAGCAAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACT... | CTAAGTTTAGCAAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACT... | pathogenic | 122,722 |
Evaluate the clinical significance of the mutation at chromosome 7, position 94603342 in gene SGCE: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Myoclonic_dystonia_11'] | AAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTAC... | AAAAGAAAAAAGGAAAAAAAAAAGAGGGACAATTTCCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTAC... | pathogenic | 122,723 |
Is the variant located on chromosome 7 at position 94603377, gene SGCE, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Myoclonic_dystonia_11'] | CCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCAT... | CCAAACGTGTCGTCCTTGATCTTTCTGCCTTCCAGCTGACAGAAGTAACTTTTATGGAAGATAGTCTAGGGAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCAT... | pathogenic | 122,727 |
Does the variant on chromosome 7 at location 94603447 affecting gene SGCE have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Myoclonic_dystonia_11'] | GAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTT... | GAATATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTT... | pathogenic | 122,729 |
Variant at chromosome 7, position 94603451, gene SGCE: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Myoclonic_dystonia_11'] | ATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTTTTGT... | ATGGAACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTTTTGT... | pathogenic | 122,730 |
Evaluate the clinical significance of the mutation at chromosome 7, position 94603456 in gene SGCE: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTTTTGTTTTCT... | ACCTATCCCAGTCTTACTTAATTCTATCCCAGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACAACAGTTGCACTATGTTAATTTACCTCCACATTAATTGAGCTGCTTTCACTGAGTTGCATTTAATTATGCTAAGGTTTTTATTGAAGGACACTAAAAATATAGCCATGTGAAATTTGCTACTACATTTGCTACTAAAATAAAATGCTGGGGAGAATTAGTTGCAGCATTATTCAGTATCTTCTCCCAAAAAACTCCACTTGAAAAATTTTGTTAATAATACAGTGTTAGTAAAAACTTTTGTTTTCT... | benign | 122,731 |
Considering the genetic mutation at chromosome 7, position 94618800, impacting SGCE: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Myoclonic_dystonia_11'] | TTTTTTTTCGAATTATAACTCAAGTAAGATTTTATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAA... | TTTTTTTTCGAATTATAACTCAAGTAAGATTTTATTTTATGAGTGTTTGTATACAGACACACTGGAGTAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAA... | pathogenic | 122,733 |
Is the genetic variant on chromosome 7, position 94618867, gene SGCE, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Myoclonic_dystonia_11'] | TAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAAGTACTTGTAGGACAAAAATTCTGTTCTTAATATAGAGTCACATGCTCAGGCCCAGCCCTAGGCTCAA... | TAATAGAGCTGGCATTGCGTACAATTTATAGAAATGCTATTTTAAAAGACTCCATATGAATATTTTGTAAAGGTTAAGGCTTAACATTAAATTAAAACTCATGGAAAGCGTTTCAAGTTGGGAAGGGATCTGAGACAAGAGTCCAAATAAATGCCACGGGACTGATTCTCTCAAATATCTGACGGCATGTGCCACCCTCTAGCAGGTGTTGGGTGTTGGGGGTCAGTCAGTTAGTGATTGAATTCTCAAACAAGTACTTGTAGGACAAAAATTCTGTTCTTAATATAGAGTCACATGCTCAGGCCCAGCCCTAGGCTCAA... | pathogenic | 122,734 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 94623340, gene SGCE. What disease(s) is it linked to if pathogenic? | pathogenic; ['Myoclonic_dystonia_11'] | CCACTAACCCTACACAAAAAGCAGAGGAACAAGCACTGCCTGGAGTAAAGGTGGAGGCTTCTAAAACCTGTCTACTACTCCTTCTCACTAGCACACCTTCCAAACCCGTTATTTAGACAAAGAGCCCTGCTGCCAATTTTCAATCCTACAGTTGTCTAGCAGTCTTCCATTAGTATCTACTTGACCACAGGTCCTCATACGTCAACAACAACATCTATTGAGATGCCTTGAGTAATCTGTATCTACAGCACTGAGACTAGATTTGAGAAGGAAGAAGTTCAAACTATAGAACAAGCTTTCAATTTGTAGGGACTCTCACA... | CCACTAACCCTACACAAAAAGCAGAGGAACAAGCACTGCCTGGAGTAAAGGTGGAGGCTTCTAAAACCTGTCTACTACTCCTTCTCACTAGCACACCTTCCAAACCCGTTATTTAGACAAAGAGCCCTGCTGCCAATTTTCAATCCTACAGTTGTCTAGCAGTCTTCCATTAGTATCTACTTGACCACAGGTCCTCATACGTCAACAACAACATCTATTGAGATGCCTTGAGTAATCTGTATCTACAGCACTGAGACTAGATTTGAGAAGGAAGAAGTTCAAACTATAGAACAAGCTTTCAATTTGTAGGGACTCTCACA... | pathogenic | 122,737 |
Regarding the variant found on chromosome 7 at position 96121696 in gene SLC25A13 (solute carrier family 25 member 13): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['CITRIN_DEFICIENCY,_NEONATAL_ONSET', 'Citrin_deficiency', 'Citrullinemia', 'Citrullinemia,_type_II,_adult-onset', 'Citrullinemia_type_II', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency', 'SLC25A13-related_disorder'] | AGAAACAGACTGACAAATGGCTGTCTGCTATGGAGAAAAACTTTGGAAACTCAAAATGTTCATACAGACTGCCAACAGATTAATTAGTAGCCTCTTTGGAAGCATGATCACGGTCTAAGAATAGCCTTAAATCCTGTTCAAGACTAGCTTCTTTCCCCAAATCATTATAGTGCTAGCCAAATAATAGCAAATGTTAGATACAGTGGTATATGGTTTTGGTGTGTGCAAGAGTCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAAT... | AGAAACAGACTGACAAATGGCTGTCTGCTATGGAGAAAAACTTTGGAAACTCAAAATGTTCATACAGACTGCCAACAGATTAATTAGTAGCCTCTTTGGAAGCATGATCACGGTCTAAGAATAGCCTTAAATCCTGTTCAAGACTAGCTTCTTTCCCCAAATCATTATAGTGCTAGCCAAATAATAGCAAATGTTAGATACAGTGGTATATGGTTTTGGTGTGTGCAAGAGTCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAAT... | pathogenic | 122,831 |
The mutation in gene SLC25A13 (solute carrier family 25 member 13) at chromosome 7, position 96121912—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | TGGTGTGTGCAAGAGTCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCA... | TGGTGTGTGCAAGAGTCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCA... | pathogenic | 122,838 |
Considering the variant on chromosome 7, location 96121927, involving gene SLC25A13 (solute carrier family 25 member 13), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | TCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACAT... | TCAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACAT... | pathogenic | 122,840 |
Classify the chromosome 7 variant at position 96121928 affecting gene SLC25A13 (solute carrier family 25 member 13) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset', 'Citrullinemia_type_II', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency', 'SLC25A13-related_disorder'] | CAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATG... | CAGACTGGATTAGAAAATACGACTGCCATTTCATACCAGTTTTCATGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATG... | pathogenic | 122,841 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 96121973, gene SLC25A13 (solute carrier family 25 member 13). What disease(s) is it linked to if pathogenic? | pathogenic; ['Citrullinemia,_type_II,_adult-onset'] | TGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATGCACAAGACCAAACAACTCAATCACTTTACAAATAGTTTATTTCCA... | TGGCTAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATGCACAAGACCAAACAACTCAATCACTTTACAAATAGTTTATTTCCA... | pathogenic | 122,843 |
The chromosome 7, position 96121977 genetic variant in gene SLC25A13 (solute carrier family 25 member 13): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Citrullinemia,_type_II,_adult-onset', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency'] | TAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATGCACAAGACCAAACAACTCAATCACTTTACAAATAGTTTATTTCCACCTT... | TAAGTTCTACTAAAACTATGTGACCTTCATCATCACAATAAACTGCCGAAAGTGCTGGAATGACTAGAACTAAGGTGTCAGTTTGCTAGTTCTTTGCTTATCTATGGTTAAATACAGTTTCTTGTACTCACTTTGAACCATGAAAATGAGGGAACACATTACCTTGAAAGATACTGAGGATATATCCATGCCAATATGAATAAAATTCCCCTCAAAACAAAACATGTAGGCCAATAATGACAATTACTGTATCCACTCACCATGCAACATGCACAAGACCAAACAACTCAATCACTTTACAAATAGTTTATTTCCACCTT... | pathogenic | 122,844 |
Chromosome 7, position 96170048, gene SLC25A13 (solute carrier family 25 member 13): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Citrullinemia,_type_II,_adult-onset', 'Citrullinemia_type_II', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency'] | TGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGCCTGGTGACAGAGCGAAACTCTGTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCACGTGTGCACACACACAAACACACACACAGAAAATGGAACCATCCATTCATCTACTCAGAGATCTAAAGGGACCTGGGTTGTCTGCTACCTACAGGATTGCTTAACTGAAAATAAACTCTTACTTCTTAAAGTAATGATTGGGGGGGAAAAAGGCAAGGGAGAAGACTTGAAAAGCTAAGGACCACTG... | TGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCAAGATCCCGCCACTGCACTCCAGCCTGGTGACAGAGCGAAACTCTGTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCACGTGTGCACACACACAAACACACACACAGAAAATGGAACCATCCATTCATCTACTCAGAGATCTAAAGGGACCTGGGTTGTCTGCTACCTACAGGATTGCTTAACTGAAAATAAACTCTTACTTCTTAAAGTAATGATTGGGGGGGAAAAAGGCAAGGGAGAAGACTTGAAAAGCTAAGGACCACTG... | pathogenic | 122,857 |
Does the variant on chromosome 7 at location 96184358 affecting gene SLC25A13 (solute carrier family 25 member 13) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset', 'Citrullinemia_type_II'] | TAAAATGGTTTACCAGAAAAGATATCAGGAAGAAATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACAT... | TAAAATGGTTTACCAGAAAAGATATCAGGAAGAAATGAACACAGGTGACTCCTAGAACTAATCTTATATTCACACTCTACTCATCATCCTGACAGACAGCTCTGTCTCTTGCCCTTAAGGTTGGGGCACCCAAAGATAAATGGCCATTTCTAAACCAGGAAAAGGGTGAAGAGCTGCCACTTGGGTGTTTACAGTGAGCCTCTGTCTGTACCTAATATATTGACTTACTACTCCTCTGAGAAGTTAAAAGCAGTCACTCTCATCTTACAGATAAAAGAACTGAAACGGCAAGAGTGGAAGCCTCTTTGCATAGCCCACAT... | pathogenic | 122,869 |
Determine whether the variant at chromosome 7, position 96189371, in gene SLC25A13 (solute carrier family 25 member 13) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['CITRIN_DEFICIENCY,_NEONATAL_ONSET', 'Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset', 'Citrullinemia_type_II', 'Late-onset_citrullinemia', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency', 'SLC25A13-related_disorder'] | ATGTAACACAATTCTAATACAATGAGATCATTTGGAATCTCCTTCAAAGTCACTTAACTGAAAATAGCTTTACATAGAAATATGCCTCTTTAAGATACAAAACATTTCTTTTGCAAATTCTATGAGTTGTTTCCAACTGTAGCCCTATATAGATGGAAATCAATAGTACCTTCATTTTGACAGATGCATCCAAAAGAGAAGCAATATTTTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCAC... | ATGTAACACAATTCTAATACAATGAGATCATTTGGAATCTCCTTCAAAGTCACTTAACTGAAAATAGCTTTACATAGAAATATGCCTCTTTAAGATACAAAACATTTCTTTTGCAAATTCTATGAGTTGTTTCCAACTGTAGCCCTATATAGATGGAAATCAATAGTACCTTCATTTTGACAGATGCATCCAAAAGAGAAGCAATATTTTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCAC... | pathogenic | 122,885 |
Gene SLC25A13 (solute carrier family 25 member 13) variant at chromosome position 96189552 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AGATGCATCCAAAAGAGAAGCAATATTTTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCACCATTAATTCCTCTCCTAAAAGACAAATGAAATCCTAGACTTTTATTTAACTTTTCCAAAGCCAGAACTGTAGCATGTTCTTGAAATGAGACAAAACTCTGCTCCTTCACTCCTCTGTCCAGGATAAATGCTACAAGTGCTGCACAGTGCTGGACAGGCAGCGCTGTGCCCACAGGTGGACG... | AGATGCATCCAAAAGAGAAGCAATATTTTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCACCATTAATTCCTCTCCTAAAAGACAAATGAAATCCTAGACTTTTATTTAACTTTTCCAAAGCCAGAACTGTAGCATGTTCTTGAAATGAGACAAAACTCTGCTCCTTCACTCCTCTGTCCAGGATAAATGCTACAAGTGCTGCACAGTGCTGGACAGGCAGCGCTGTGCCCACAGGTGGACG... | benign | 122,887 |
For chromosome 7, position 96189579, gene SLC25A13 (solute carrier family 25 member 13): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | TTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCACCATTAATTCCTCTCCTAAAAGACAAATGAAATCCTAGACTTTTATTTAACTTTTCCAAAGCCAGAACTGTAGCATGTTCTTGAAATGAGACAAAACTCTGCTCCTTCACTCCTCTGTCCAGGATAAATGCTACAAGTGCTGCACAGTGCTGGACAGGCAGCGCTGTGCCCACAGGTGGACGACCTCCCTTGCTTGAATTTGTCGGGCC... | TTATTTACAGGGATATAAATATGCAATACTTAGAAATGTTCTGGCATCAAAATAATGAGTGAAAATACTCTGAAAATTATAGAGGGTGGGGGGAGGAGGGACCTACCACCACCATTAATTCCTCTCCTAAAAGACAAATGAAATCCTAGACTTTTATTTAACTTTTCCAAAGCCAGAACTGTAGCATGTTCTTGAAATGAGACAAAACTCTGCTCCTTCACTCCTCTGTCCAGGATAAATGCTACAAGTGCTGCACAGTGCTGGACAGGCAGCGCTGTGCCCACAGGTGGACGACCTCCCTTGCTTGAATTTGTCGGGCC... | pathogenic | 122,888 |
A genetic variant at chromosome 7, position 96193043, affecting gene SLC25A13 (solute carrier family 25 member 13)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency'] | AGTTAATATGTGTCAATGGGATAGAAAAATAATAAAGTACTAGTTGCCTTCTTCACCCTAATAATAATACACCACAATACTTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACA... | AGTTAATATGTGTCAATGGGATAGAAAAATAATAAAGTACTAGTTGCCTTCTTCACCCTAATAATAATACACCACAATACTTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACA... | pathogenic | 122,898 |
Variant at chromosome 7, position 96193080, gene SLC25A13 (solute carrier family 25 member 13): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | TACTAGTTGCCTTCTTCACCCTAATAATAATACACCACAATACTTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACATACATCTAAAACTAGTTTGAAAGTAATCAAAAATGCA... | TACTAGTTGCCTTCTTCACCCTAATAATAATACACCACAATACTTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACATACATCTAAAACTAGTTTGAAAGTAATCAAAAATGCA... | pathogenic | 122,899 |
Assess the variant on chromosome 7, position 96193123, impacting SLC25A13 (solute carrier family 25 member 13): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | TTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACATACATCTAAAACTAGTTTGAAAGTAATCAAAAATGCATGTACAAGAAGAAATGACTATAAGTATTTTTCTTTTGCATTAA... | TTGCAGGCTAGAATTCAGATATATTCTCACTCACCCTTAGTCACTTCAACATCTTTCCTGGTGCCAGCCAGAGTGCTATAGATCTTTCTAATGAGTTCCATGTTGTTAAGGAGCGAATTAAATCCATTAAAATAGGAGAAACTAACTTGATGGGATGTGGTACCTCCAGCAGCCTCAAATAAATTGAAAACAAGAGAGAAGAAAAATATACAAAAGATTTATAGATGATTCAGAAGTACATACATCTAAAACTAGTTTGAAAGTAATCAAAAATGCATGTACAAGAAGAAATGACTATAAGTATTTTTCTTTTGCATTAA... | pathogenic | 122,902 |
The genetic variant at chromosome 7, position 96208875, affecting gene SLC25A13 (solute carrier family 25 member 13): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | AGGCTGCTGTGAGCAGTTGAAAATCTACTCAATTCAGTATAATTGACACTTGCTTAGAGGAGGAAACACGATCATCCTTACTACTGCTAACATCCCATTAAAACTAAAAGTTAATTAGGCTGTGTTCCATAAAGTCAATTTGAGGCATTTGTCTCAATAACATTATTGTCATTATTCCTCATCAAAATGAATACCGCCTCCTACAGCACAACAATGTCCTGTGGAAACAGCAGCAAAAATCCGGCAACTCACATTACATTCTCCATCTGAGTTACGTAAGTAGGTTTATGTTTACAGAGAACTGAAAACAGGGATTCACA... | AGGCTGCTGTGAGCAGTTGAAAATCTACTCAATTCAGTATAATTGACACTTGCTTAGAGGAGGAAACACGATCATCCTTACTACTGCTAACATCCCATTAAAACTAAAAGTTAATTAGGCTGTGTTCCATAAAGTCAATTTGAGGCATTTGTCTCAATAACATTATTGTCATTATTCCTCATCAAAATGAATACCGCCTCCTACAGCACAACAATGTCCTGTGGAAACAGCAGCAAAAATCCGGCAACTCACATTACATTCTCCATCTGAGTTACGTAAGTAGGTTTATGTTTACAGAGAACTGAAAACAGGGATTCACA... | pathogenic | 122,905 |
Variant on chromosome 7, at position 96234853, affecting SLC25A13 (solute carrier family 25 member 13): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset', 'Neonatal_intrahepatic_cholestasis_due_to_citrin_deficiency'] | TTAGAGATGAGGAAAATAAAGCTCAGAGGGTTGAAATGACTTGTCCTTCAGCTAGTAAGAAGCAGAAACAAAATCCTTATGCAACTATGCCTTCTACAATTCAAAGACAGCTCTTGTTTCCTACATCCTGCTTCTTCACTATCATTTTCTTCTAATCACACTAACACACACACTTTGCCCTGCAATGGTGGAAGTCTCCTACGTCTTTCTAGGACCAGTGGTAAAGCTGGTGTCACCAATATCCCTTGCCACTTCACACGCATGAAGGGAAGATGGATCTATATCAAGGAACTACCTGAAGCCCATTTCTCAGTCCTCTA... | TTAGAGATGAGGAAAATAAAGCTCAGAGGGTTGAAATGACTTGTCCTTCAGCTAGTAAGAAGCAGAAACAAAATCCTTATGCAACTATGCCTTCTACAATTCAAAGACAGCTCTTGTTTCCTACATCCTGCTTCTTCACTATCATTTTCTTCTAATCACACTAACACACACACTTTGCCCTGCAATGGTGGAAGTCTCCTACGTCTTTCTAGGACCAGTGGTAAAGCTGGTGTCACCAATATCCCTTGCCACTTCACACGCATGAAGGGAAGATGGATCTATATCAAGGAACTACCTGAAGCCCATTTCTCAGTCCTCTA... | pathogenic | 122,908 |
Regarding the variant found on chromosome 7 at position 96277318 in gene SLC25A13 (solute carrier family 25 member 13): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Citrin_deficiency', 'Citrullinemia,_type_II,_adult-onset'] | CTTTTACACTGTTGGTGAGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTTGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGTGGCACTATTCACAATAGCAAAGACTTGGAATCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAATTCATGTCCTTTGCAGGGAC... | CTTTTACACTGTTGGTGAGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTTGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGTGGCACTATTCACAATAGCAAAGACTTGGAATCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAATTCATGTCCTTTGCAGGGAC... | pathogenic | 122,915 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 97006108, gene DLX6: what disease(s) if pathogenic? | benign | ACCCGGAACCCGGGACCCTGGACGCCGGTGCGGGCGGGCCTGCCCTCCTCTGTGCCTGGCCCCCAGTCTGGCCCTCCTACCTGTTGACCAGGCCTGAACCACGCACCGGGGCTCCGCTGTCTCTGCTTGGCTGCCTTAACCTGCGTGGGTCTGGAGACCGGAGGGAGAAAGGCTAGATCCGCAGCCTTGGGCTGCTCCGAACTTAATGTCTTTCCCCAGTCCATCTTTGAAAGAGAAGTGGTTCTACCACCTGGATGTGCGGATATAAATCCCCTTGCAAATAATAAATGGATTAATAATAACAAGGTATGAAGTTCTTT... | ACCCGGAACCCGGGACCCTGGACGCCGGTGCGGGCGGGCCTGCCCTCCTCTGTGCCTGGCCCCCAGTCTGGCCCTCCTACCTGTTGACCAGGCCTGAACCACGCACCGGGGCTCCGCTGTCTCTGCTTGGCTGCCTTAACCTGCGTGGGTCTGGAGACCGGAGGGAGAAAGGCTAGATCCGCAGCCTTGGGCTGCTCCGAACTTAATGTCTTTCCCCAGTCCATCTTTGAAAGAGAAGTGGTTCTACCACCTGGATGTGCGGATATAAATCCCCTTGCAAATAATAAATGGATTAATAATAACAAGGTATGAAGTTCTTT... | benign | 122,926 |
Does the genetic variant at chromosome 7, position 97854621, impacting gene ASNS, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | TGTATGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATA... | TGTATGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATA... | pathogenic | 122,958 |
Determine whether the variant at chromosome 7, position 97854625, in gene ASNS is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | TGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATAGGGA... | TGAGACCCTTTGAATCACCCATCACTTAGAAAATGCTAAAGTATTCATAATATGGATAGCTGCAGTGCCTTTTAAAGAACACTCATATGCATATTTTTAATACTTGGTGGCTCTGTTTTAGTCATTTGTGCCTAACAAGATCTGGCACCCAGCAGGTGCCCAAAAATCTGATAAATGAAAATCAGTGATGATTAGTAGTAAGTCTCCTCTCTCTCTCGATTCTAGATGCTACTTTATAATCCTTCATGCTACTTAATTCTTACGTAATTCTTACAAAAGAGATAATTGTTTACAGAGACTCTGAATCTCTCTGATAGGGA... | pathogenic | 122,961 |
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