question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Is the chromosome 9, position 128633193 variant in SPTAN1 (spectrin alpha, non-erythrocytic 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAA... | GAGGGCTCTTCACTTTAAAGAAAGTCTTTGGGGCTGGGTGTGGTGACTTACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATTGCTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATATTAGCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGATTCTGGGATGCGGAGGTTGCAGTGACCCGAGATCAGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCCTCTGAAAAA... | benign | 151,471 |
Evaluate this variant at chromosome 9, position 128634279, gene DYNC2I2 (dynein 2 intermediate chain 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly'] | GCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCC... | GCACAGCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCC... | pathogenic | 151,492 |
Clinically, how would you classify the variant at chromosome 9, position 128634284, gene DYNC2I2 (dynein 2 intermediate chain 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly'] | GCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCT... | GCACCGTGGGCCTCGCCCAGCAGTGGGACCAGCTGGACCAGCTGGGCATGCGCATGCAGCACAACCTGGAGCAGCAGATCCAGGCCAGGTACCCGGGAGGGCTGTGGGCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACACAGTCACCTGCTGTGTGGAGGGTCTGTTCCCTAATTTCTGTTTTTCTTCCAGGAACACAACAGGTGTGACTGAGGAGGCCCTCAAAGAATTCAGCATGATGTTTAAGTGAGTTCAGCCTTACTCGCCCTGGCTGGGTGGGGGGTGTTCGGCAGCAGGGCTGCCTGCTGAGCCGCCCT... | pathogenic | 151,493 |
Mutation at chromosome 9, position 128634798, within DYNC2I2: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly'] | TCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACA... | TCTGCCCGGGGCACCCACCTGCCCTCCCTGCTCAGGCTCTTGCTTCCCCCGCTCCTAGAGATGGCCATGTCTCCTTGCAAGAATACATGGCTTTCATGATCAGCCGCGAAACTGAGAACGTCAAGTCCAGCGAGGAGATTGAGAGCGCCTTCCGGGCCCTCAGCTCAGAGGGAAAGCCTTACGTGACCAAGGAGGAGCTCTACCAGGTATGGGCCTCAGGAGGTGGGTGAAGAGGTGTCCTTTGGAAAACTAAAGCCAAATTTGTGGCAGAGCTGAGTCTGGGGTAACAGGCCCTGCGCTGGGTATTCTCCCCATTTACA... | pathogenic | 151,495 |
For chromosome 9, position 128636354, gene DYNC2I2 (dynein 2 intermediate chain 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly'] | AGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCA... | AGCGAAGTCAAGGGAGGGGCCTGCAGCATGGAGTACAGGTGGACATGCCCGTCAGTCCCAGCGCTCAGGAAGAGATTCCTAGACGGGATGCAGGGGGCCAGGCAAGGGAATCAGTGCTGGGGTCTGGGTGGTGCTGGCCCCCAACACCAGACCCCTCCTGGGCTGCCAGGCTCGTGAAGAGCCTCCCGGGTCCCTCAGCCTGGAGTTGGTCCTCTCATTAGAGAAGGGACGATGCCTGGGCCAACCACCAAAGACCTGAACACGGGTCTCAGAGTGGGCAGAAGGCAAGCACTTGAAGCAGTTTGTCATGAGGCTTGGCA... | pathogenic | 151,506 |
Chromosome 9, position 128691221, gene SET (SET nuclear proto-oncogene): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability,_autosomal_dominant_58', 'SET-related_disorder'] | GAGGCGGAGCATCCGCGCGGGGCCTGGCGCGCCTGCGCCCTGCGCCCGCCCCTCGCCGTAGGAGGAGGTGGAGGAGGAGGCGGCTCGGGAGAGCGAGCAGCGAGCTGGCTGGATCGCCGAGCGCGAGTGAGGGAGCCGAGCCGCCCGCCGCCGCCGCCTCCGCCTCCCCTCCGCGAACAGGAGCCCGGGCCGGGGCCCGGCACGCCGCCCCAGCCCGTCCCTCGGCGTCAGGCCGCGAGGGTAGCGCGCGCGAGCGAGCGAGGGGGAGGGAGAGCGAGCGAGCGCCGGGAGGAGGCGGCCGGACCGAGCGGGCGCCCGCG... | GAGGCGGAGCATCCGCGCGGGGCCTGGCGCGCCTGCGCCCTGCGCCCGCCCCTCGCCGTAGGAGGAGGTGGAGGAGGAGGCGGCTCGGGAGAGCGAGCAGCGAGCTGGCTGGATCGCCGAGCGCGAGTGAGGGAGCCGAGCCGCCCGCCGCCGCCGCCTCCGCCTCCCCTCCGCGAACAGGAGCCCGGGCCGGGGCCCGGCACGCCGCCCCAGCCCGTCCCTCGGCGTCAGGCCGCGAGGGTAGCGCGCGCGAGCGAGCGAGGGGGAGGGAGAGCGAGCGAGCGCCGGGAGGAGGCGGCCGGACCGAGCGGGCGCCCGCG... | pathogenic | 151,520 |
A mutation at chromosome position 128694015 on chromosome 9 in gene SET (SET nuclear proto-oncogene): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTTTGGGTAACAACATTTGTCAACCATCCACAAGGTATGTTTTGGACAGGGCATTGTTAAAGGATAAACAGTGTTTGTTAGAATGGAGGAAGCTTGGTGAAGACTTAGTCCAGCATGCTGGGTTGCGTGCAACAAAGACAGGCTGGGTGCGGTGGCGCACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGGGTTCGAAACCAGCTTGGCCAACAGGTTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGCGCGCTTGTAATCCCAGCTACTCGCTA... | TTTTGGGTAACAACATTTGTCAACCATCCACAAGGTATGTTTTGGACAGGGCATTGTTAAAGGATAAACAGTGTTTGTTAGAATGGAGGAAGCTTGGTGAAGACTTAGTCCAGCATGCTGGGTTGCGTGCAACAAAGACAGGCTGGGTGCGGTGGCGCACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGGGTTCGAAACCAGCTTGGCCAACAGGTTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGCGCGCTTGTAATCCCAGCTACTCGCTA... | benign | 151,527 |
Does the chromosome 9 mutation at position 128947302 within gene DOLK (dolichol kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAA... | GCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAA... | benign | 151,626 |
Variant on chromosome 9, at position 128998173, affecting NUP188 (nucleoporin 188): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Sandestig-stefanova_syndrome'] | TTCTTTCTTGGGGTATCCAGATTAATTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGCTCCGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTTACTGCAACCTCCGCCTTCCGGGTTCAAGGAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTATAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCTTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCT... | TTCTTTCTTGGGGTATCCAGATTAATTTTTTTTTTTTTTTCTTGAGACGGAGTCTTGCTCCGTCACCCAGGCTGGAATGCAGTGGTGCGATCTTGGCTTACTGCAACCTCCGCCTTCCGGGTTCAAGGAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTATAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCTTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCT... | pathogenic | 151,639 |
Does the variant on chromosome 9 at location 129814061 affecting gene TOR1A (torsin family 1 member A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Arthrogryposis_multiplex_congenita_5', 'Dystonic_disorder', 'Early-onset_generalized_limb-onset_dystonia', 'Inborn_genetic_diseases', 'TOR1A-related_disorder'] | GAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCT... | GAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCT... | pathogenic | 151,676 |
Clinical classification of chromosome 9, position 130454367, gene ASS1 (argininosuccinate synthase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Citrullinemia_type_I'] | GTCATTGCCTATCTGGTGAGGGAGCGACCTGGGTGTCTGTCTTCCTGCGTGTCCTGCAACCTGTCCTGTCTGCCCCCTGCCAGCCTCTGTCTGGGTTGTCAGCCTGTCTGCTCACCGTCACTCATTCAAGCCTGGCCTCTTCTCTCGAAGCCTGTCTTGAACTGGAACTAGGAAAATAGCTTCTCGTTGTACTGCCTCACTTTCTCCATCTGCAAATTGGCCATCCTTGAGATGCCTTCCAGAGCCAGGTGATGGAGGCGCGGGGAGGGCACAGAAGTGAACTTGGCAGTGCTGCTGGCTTAGCCTGCTTGCAGAGAGGC... | GTCATTGCCTATCTGGTGAGGGAGCGACCTGGGTGTCTGTCTTCCTGCGTGTCCTGCAACCTGTCCTGTCTGCCCCCTGCCAGCCTCTGTCTGGGTTGTCAGCCTGTCTGCTCACCGTCACTCATTCAAGCCTGGCCTCTTCTCTCGAAGCCTGTCTTGAACTGGAACTAGGAAAATAGCTTCTCGTTGTACTGCCTCACTTTCTCCATCTGCAAATTGGCCATCCTTGAGATGCCTTCCAGAGCCAGGTGATGGAGGCGCGGGGAGGGCACAGAAGTGAACTTGGCAGTGCTGCTGGCTTAGCCTGCTTGCAGAGAGGC... | pathogenic | 151,719 |
Regarding the variant at chromosome 9 and position 130458509, affecting gene ASS1 (argininosuccinate synthase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Citrullinemia_type_I'] | TGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTT... | TGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTT... | pathogenic | 151,729 |
Chromosome 9, position 130458542, gene ASS1 (argininosuccinate synthase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | ACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGC... | ACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGC... | pathogenic | 151,733 |
Is chromosome 9, position 130464109, gene ASS1 (argininosuccinate synthase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | CTCTCCCCTCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAA... | CTCTCCCCTCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAA... | pathogenic | 151,743 |
Located at chromosome 9 position 130464153, the variant affecting gene ASS1 (argininosuccinate synthase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | CAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGG... | CAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGG... | pathogenic | 151,747 |
Variant chromosome 9, position 130466752, gene ASS1 (argininosuccinate synthase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | GTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAA... | GTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAA... | pathogenic | 151,754 |
The mutation impacting ASS1 (argininosuccinate synthase 1) on chromosome 9 at position 130466761: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | CACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGT... | CACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGT... | pathogenic | 151,755 |
Assess the variant on chromosome 9, position 130466786, impacting ASS1 (argininosuccinate synthase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | GTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATAT... | GTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATAT... | pathogenic | 151,757 |
Variant on chromosome 9, at position 130480421, affecting ASS1 (argininosuccinate synthase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | GGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAG... | GGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAG... | pathogenic | 151,799 |
Is the genetic change at chromosome 9, position 130489385, within gene ASS1 (argininosuccinate synthase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | TCAGCAGACTCAGCCTCCCCAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCT... | TCAGCAGACTCAGCCTCCCCAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCT... | pathogenic | 151,816 |
Variant in ASS1 (argininosuccinate synthase 1), chromosome 9, position 130489442—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | TTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTC... | TTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTC... | pathogenic | 151,820 |
Considering the variant on chromosome 9, location 130494872, involving gene ASS1 (argininosuccinate synthase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | CTGCAGGTCTGGGGGGTGCAGGGTCTCCCCCATTGCAGCTTATGCCAGGCTCACTGGCCCCCAACCCAGGCTGGGTCCGCTGGGAAAAGAAATCTGAGCAGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTC... | CTGCAGGTCTGGGGGGTGCAGGGTCTCCCCCATTGCAGCTTATGCCAGGCTCACTGGCCCCCAACCCAGGCTGGGTCCGCTGGGAAAAGAAATCTGAGCAGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTC... | pathogenic | 151,827 |
Located at chromosome 9 position 130500954, the variant affecting gene ASS1 (argininosuccinate synthase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Citrullinemia', 'Citrullinemia_type_I'] | ACAGCAGCAGTCAACCCAGCATTTTCCATGACACACTGGCAGTGGGTGCCCAGGTTTCAGGATGGATTAGGTAAGGTCTAACTGGTTGGACACATGAGGGGAAAGGTGACTTGGTGGGCCCATCTCGCTGTGAATGCTGGAGGCCTCCCTGCAGCTTGCGAAATGCCCTTGTGCTATTGCAATTCACACCCCAAGGCCTCCTGAGCCTTCAGGTCACTGCATGCCATCCACACAGTCCCAAGGGCACAGCTGGCTTGGACGAGTTACCCATTTACAGACAGAGTGCTCTGGTTGGTGGAATTCATAGGGCTAGTTCTGGG... | ACAGCAGCAGTCAACCCAGCATTTTCCATGACACACTGGCAGTGGGTGCCCAGGTTTCAGGATGGATTAGGTAAGGTCTAACTGGTTGGACACATGAGGGGAAAGGTGACTTGGTGGGCCCATCTCGCTGTGAATGCTGGAGGCCTCCCTGCAGCTTGCGAAATGCCCTTGTGCTATTGCAATTCACACCCCAAGGCCTCCTGAGCCTTCAGGTCACTGCATGCCATCCACACAGTCCCAAGGGCACAGCTGGCTTGGACGAGTTACCCATTTACAGACAGAGTGCTCTGGTTGGTGGAATTCATAGGGCTAGTTCTGGG... | pathogenic | 151,840 |
Located at chromosome 9 position 130681605, the variant affecting gene PRDM12 (PR/SET domain 12)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,855 |
A genetic variant on chromosome 9, position 130681605, affects the gene PRDM12 (PR/SET domain 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,856 |
Does the variant on chromosome 9 at location 130681605 affecting gene PRDM12 (PR/SET domain 12) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,857 |
Determine if the mutation at chromosome 9, position 130681605 in gene PRDM12 (PR/SET domain 12) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,858 |
Considering the genetic mutation at chromosome 9, position 130681605, impacting PRDM12 (PR/SET domain 12): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,859 |
Is the variant located on chromosome 9 at position 130681605, gene PRDM12 (PR/SET domain 12), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,860 |
Classify the chromosome 9 variant at position 130681605 affecting gene PRDM12 (PR/SET domain 12) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | TCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGG... | benign | 151,861 |
Is the variant located on chromosome 9 at position 131009544, gene LAMC3 (laminin subunit gamma 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Occipital_pachygyria_and_polymicrogyria'] | ACTCTATCCTGTAGTCAGCCATCTTACGGAGCTCTTATTAATTTTAATAGTCTTAGTAGAATCTTTTAGATTTTCTAGATGTATGTTCAGGTAAGTAGAAGATATAAATATTTATATCTTTTAAGTTTTTTGTCTTATTGTATTAGCTAGAACTTCCAAAATAACCTTAGGTACCAGTGGTGATATCATATACTAACTCTACTTAGATATAGTTCTGAAATCTCTAACTTATTCCATGGGTCTATTCTGTAGTCCTTTCCACAACCGTATTGTTTTAATCATGTGTAAATAACTGGTAGTGAATCAGCCCACTACAGTTC... | ACTCTATCCTGTAGTCAGCCATCTTACGGAGCTCTTATTAATTTTAATAGTCTTAGTAGAATCTTTTAGATTTTCTAGATGTATGTTCAGGTAAGTAGAAGATATAAATATTTATATCTTTTAAGTTTTTTGTCTTATTGTATTAGCTAGAACTTCCAAAATAACCTTAGGTACCAGTGGTGATATCATATACTAACTCTACTTAGATATAGTTCTGAAATCTCTAACTTATTCCATGGGTCTATTCTGTAGTCCTTTCCACAACCGTATTGTTTTAATCATGTGTAAATAACTGGTAGTGAATCAGCCCACTACAGTTC... | pathogenic | 151,952 |
Does the chromosome 9 mutation at position 131026432 within gene LAMC3 (laminin subunit gamma 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GATCCACCCGCTTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCACCCAGCCTTTTAGCTCTTACCTAGAGCCAAGATGTTTCAGCAGACGACTAGGGTGGCTTGTCCTCGGCACCTAAGGAAGATGGTGGTGGCAGTGGGCAGTCTCTTGGGGGTCTCTGGGACCAGGGAAGGAAGGATCAGAGAATAGAAAGCCGGCCATGGGGAGGGGACTGGGCATCTTCTGTGCTGCTCTGGGAAGTGAGAGGCTACTGCCAACGGTAGAGATGCAGGAGGGACTCCCTGCGTGGGCCGTTCTTCCCTTCATTCA... | GATCCACCCGCTTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCACCCAGCCTTTTAGCTCTTACCTAGAGCCAAGATGTTTCAGCAGACGACTAGGGTGGCTTGTCCTCGGCACCTAAGGAAGATGGTGGTGGCAGTGGGCAGTCTCTTGGGGGTCTCTGGGACCAGGGAAGGAAGGATCAGAGAATAGAAAGCCGGCCATGGGGAGGGGACTGGGCATCTTCTGTGCTGCTCTGGGAAGTGAGAGGCTACTGCCAACGGTAGAGATGCAGGAGGGACTCCCTGCGTGGGCCGTTCTTCCCTTCATTCA... | benign | 151,961 |
Evaluate this variant at chromosome 9, position 131032173, gene LAMC3 (laminin subunit gamma 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Occipital_pachygyria_and_polymicrogyria'] | AGATGGGGTTTTGCCATGTTGTCCAGGCTGGTCTTGAACTCCTGGTCTCAAGGGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGCATTACAAGTGTGAGCCATCACACCAGGCCCTAAAATGACTTTTAAGGCATCAAGACAGTCCCCCTGCAATTGAGGCTAAGGCTGCTCTCTCCCAGCATCCATCCTATGTCTCAGAGATTTTGACCCCATTCCTTTGTGGTCATTGTCCTTGCAGACTGATGGATCAGGTCACAGGCCAGGAAGCAGAGGTGGGAGACCTTGGGCAGGTCATTGCTGTCTCTGGGCCCCACTGGC... | AGATGGGGTTTTGCCATGTTGTCCAGGCTGGTCTTGAACTCCTGGTCTCAAGGGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGCATTACAAGTGTGAGCCATCACACCAGGCCCTAAAATGACTTTTAAGGCATCAAGACAGTCCCCCTGCAATTGAGGCTAAGGCTGCTCTCTCCCAGCATCCATCCTATGTCTCAGAGATTTTGACCCCATTCCTTTGTGGTCATTGTCCTTGCAGACTGATGGATCAGGTCACAGGCCAGGAAGCAGAGGTGGGAGACCTTGGGCAGGTCATTGCTGTCTCTGGGCCCCACTGGC... | pathogenic | 151,968 |
A genetic variant at chromosome 9, position 131036256, affecting gene LAMC3 (laminin subunit gamma 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Occipital_pachygyria_and_polymicrogyria'] | TCACTCTCCTTTCCTGGGTCAGTGGGCTTCACAGGGCTGGTGTTTACAGCACCCCCTCCAAGGCAGGGGCAGTCCCTTGTGACTTCCCTGGTGACCACTGTCCCCAGGATTGCCTGGCGCCTGCCTCACCCCAAGAAACCCTGGGGTGCTGCCTGCCTAAACTGGGCCTTGCGTGGAAGCCGTGCTACGTGCCCTACCACACAGTGTGTCCGCTATCAGCTAAAGCACCTGGAGCCGCAACAGCGGTTGGTGATTCGTCAACATCCACAGAGGGCAGAGCGTGGAACGTGGCTTAAGGGAGCCACTGAGTGGCCACAGAG... | TCACTCTCCTTTCCTGGGTCAGTGGGCTTCACAGGGCTGGTGTTTACAGCACCCCCTCCAAGGCAGGGGCAGTCCCTTGTGACTTCCCTGGTGACCACTGTCCCCAGGATTGCCTGGCGCCTGCCTCACCCCAAGAAACCCTGGGGTGCTGCCTGCCTAAACTGGGCCTTGCGTGGAAGCCGTGCTACGTGCCCTACCACACAGTGTGTCCGCTATCAGCTAAAGCACCTGGAGCCGCAACAGCGGTTGGTGATTCGTCAACATCCACAGAGGGCAGAGCGTGGAACGTGGCTTAAGGGAGCCACTGAGTGGCCACAGAG... | pathogenic | 151,972 |
Located at chromosome 9 position 131038919, the variant affecting gene LAMC3 (laminin subunit gamma 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | CAAGCCCCACCCTGTCCCCAGACAGCCTGGTTTCCTCCAGGCTCTCCATGCACAGCCGCCGTTGCTGGGGGCCAGATCCCAGCTGGTGCTGGTGCTGCTGGCAGGAGACACATCTTCACTCACAGGCTCGCTGGGCGGGCAGCTTGGCCTCTGGACCCCGCTGTCCTCTTGGGCCTGGGCCACTGGCGACCAGAACTGGGGCTGGGCCGGGGGCGGCTTGTTCTGAGGGTGGGGCACTGTCTGCAGGAGCTGCCCTCGCTGGCCTGCCTCCACCAGAGAGTCCTGGGGCCAAGGAAGCTGTGCTGGCTGGCTTCCACTGT... | CAAGCCCCACCCTGTCCCCAGACAGCCTGGTTTCCTCCAGGCTCTCCATGCACAGCCGCCGTTGCTGGGGGCCAGATCCCAGCTGGTGCTGGTGCTGCTGGCAGGAGACACATCTTCACTCACAGGCTCGCTGGGCGGGCAGCTTGGCCTCTGGACCCCGCTGTCCTCTTGGGCCTGGGCCACTGGCGACCAGAACTGGGGCTGGGCCGGGGGCGGCTTGTTCTGAGGGTGGGGCACTGTCTGCAGGAGCTGCCCTCGCTGGCCTGCCTCCACCAGAGAGTCCTGGGGCCAAGGAAGCTGTGCTGGCTGGCTTCCACTGT... | pathogenic | 151,977 |
Benign or pathogenic: chromosome 9, position 131056914, gene LAMC3 (laminin subunit gamma 3) variant? Disease(s) if pathogenic? | benign | GAAAGGTAATCACACAGTACGATATTCTGGGACTTGCTTTTTGTCAGCTAACAGTGCGTCGTGGAGGTTGTTCCTTGTCATTACGCGTAGAAAGCCTGGTTTTCTGTGTCTGGTGTGTAAGATTCTGTGGTATGGGTGCTCTGTGAGGTTTTAGCCATCCCCCTATTGACAGGCGCTTAAGTGGCCTCCAGTTTTCCCCATTACAACCGTGTCACAGGGAATAGGGACCAGCCTCATAGAAAGGTCTTGGTATTCCAGTATAAGTGTCGCTTTAGGACAGAGTGCTGGAAATGGAGATGTTAGGTCAAAGAGGGAGCATT... | GAAAGGTAATCACACAGTACGATATTCTGGGACTTGCTTTTTGTCAGCTAACAGTGCGTCGTGGAGGTTGTTCCTTGTCATTACGCGTAGAAAGCCTGGTTTTCTGTGTCTGGTGTGTAAGATTCTGTGGTATGGGTGCTCTGTGAGGTTTTAGCCATCCCCCTATTGACAGGCGCTTAAGTGGCCTCCAGTTTTCCCCATTACAACCGTGTCACAGGGAATAGGGACCAGCCTCATAGAAAGGTCTTGGTATTCCAGTATAAGTGTCGCTTTAGGACAGAGTGCTGGAAATGGAGATGTTAGGTCAAAGAGGGAGCATT... | benign | 152,011 |
Located at chromosome 9 position 131067050, the variant affecting gene LAMC3 (laminin subunit gamma 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGAAAAGGAAAGAAAAAATCATGTAAGCAAGGCAGCATTCTTGTCACCTCCAGGGGACCATGGCTATTATTTGGGCCTGACACTGGTTTCATGTAGATATAGGCAGAGAGATGGGCATGTTTACAAAGAGTGGCTGACACCATGTGAAGCACTTGGAACAAGTATGTTCTTTTATGCTCCGTCTATGTCCAGAGTAGACCTCTAGAACCACCCTCCAAAAGCCCCCTCGCACAGCATGTCTTCTGCAGCTCACAGGTAACCTG... | TTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTAAAAAAAAAAAAAAAAAAAAGAAAAGGAAAGAAAAAATCATGTAAGCAAGGCAGCATTCTTGTCACCTCCAGGGGACCATGGCTATTATTTGGGCCTGACACTGGTTTCATGTAGATATAGGCAGAGAGATGGGCATGTTTACAAAGAGTGGCTGACACCATGTGAAGCACTTGGAACAAGTATGTTCTTTTATGCTCCGTCTATGTCCAGAGTAGACCTCTAGAACCACCCTCCAAAAGCCCCCTCGCACAGCATGTCTTCTGCAGCTCACAGGTAACCTG... | benign | 152,028 |
Does the variant impacting LAMC3 (laminin subunit gamma 3) on chromosome 9, position 131071589, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases'] | TTTTTGATGCTGCCTAGGGCATTCTGGGAACACCCAGAACCCAGCACGCACTGCCCCTGGCCCCTCTAAACCCAGCACGCACTGCCCCTGGCCCCTCTAAACCCAGCACGCACTGCCCCTGGCCCCTCTAGCCTGCAGGTGCTCCCCACTGGGCGCTGCCTCGGCCCAGTGCCACGAGAACGGCACATGCGTGTGCAGGCCTGGCTTCGAGGGCTACAAATGTGACCGCTGCCACGACAACTTCTTCCTCACGGCAGACGGCACACACTGCCAGCAATGTCCGTCCTGCTACGCCCTGGTGAAGGAGGAGGTGAGTCGGC... | TTTTTGATGCTGCCTAGGGCATTCTGGGAACACCCAGAACCCAGCACGCACTGCCCCTGGCCCCTCTAAACCCAGCACGCACTGCCCCTGGCCCCTCTAAACCCAGCACGCACTGCCCCTGGCCCCTCTAGCCTGCAGGTGCTCCCCACTGGGCGCTGCCTCGGCCCAGTGCCACGAGAACGGCACATGCGTGTGCAGGCCTGGCTTCGAGGGCTACAAATGTGACCGCTGCCACGACAACTTCTTCCTCACGGCAGACGGCACACACTGCCAGCAATGTCCGTCCTGCTACGCCCTGGTGAAGGAGGAGGTGAGTCGGC... | pathogenic | 152,058 |
A mutation at chromosome position 131504320 on chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | GGGCGACAGAGCGAGACCCCGTGTCTTAAAAAAAAAATTAAGGTCGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAACCGGGCGTGGTGGCGTGCGCCTTCAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCG... | GGGCGACAGAGCGAGACCCCGTGTCTTAAAAAAAAAATTAAGGTCGGACGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTCAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAACCGGGCGTGGTGGCGTGCGCCTTCAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCG... | pathogenic | 152,127 |
Is the genetic change at chromosome 9, position 131506100, within gene POMT1 (protein O-mannosyltransferase 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCCAGGAACTTCGGTCTTTCTCAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAA... | TCCAGGAACTTCGGTCTTTCTCAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAA... | benign | 152,131 |
Regarding the variant at chromosome 9 and position 131506100, affecting gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TCCAGGAACTTCGGTCTTTCTCAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAA... | TCCAGGAACTTCGGTCTTTCTCAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAA... | benign | 152,132 |
Gene mutation in POMT1 (protein O-mannosyltransferase 1) at chromosome 9, position 131506163—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | GCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAAT... | GCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAAT... | pathogenic | 152,136 |
The mutation impacting POMT1 (protein O-mannosyltransferase 1) on chromosome 9 at position 131506439: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATT... | ACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATT... | pathogenic | 152,141 |
The mutation in gene POMT1 (protein O-mannosyltransferase 1) at chromosome 9, position 131507377—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | CTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTC... | CTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTC... | pathogenic | 152,148 |
Evaluate if the mutation on chromosome 9 at position 131507475 in POMT1 (protein O-mannosyltransferase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | TCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTG... | TCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTG... | pathogenic | 152,151 |
Is the genetic change at chromosome 9, position 131507500, within gene POMT1 (protein O-mannosyltransferase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | GGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGT... | GGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGT... | pathogenic | 152,153 |
Does the variant on chromosome 9 at location 131507515 affecting gene POMT1 (protein O-mannosyltransferase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAA... | TGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAA... | pathogenic | 152,154 |
Gene mutation in POMT1 (protein O-mannosyltransferase 1) at chromosome 9, position 131508908—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'POMT1-related_disorder'] | AGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGA... | AGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGA... | pathogenic | 152,157 |
Is the genetic variant on chromosome 9, position 131508963, gene POMT1 (protein O-mannosyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGA... | AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGA... | pathogenic | 152,159 |
Evaluate this variant at chromosome 9, position 131509776, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | GGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA... | GGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACA... | pathogenic | 152,163 |
Chromosome 9, position 131509781, gene POMT1 (protein O-mannosyltransferase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker... | TAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTG... | TAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTG... | pathogenic | 152,164 |
Clinical significance of chromosome 9, position 131510348, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | AGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGA... | AGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGA... | pathogenic | 152,182 |
Clinically, how would you classify the variant at chromosome 9, position 131513332, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1'] | AGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATT... | AGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATT... | pathogenic | 152,217 |
Mutation at chromosome 9, position 131515439, within POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | CAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGA... | CAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGA... | pathogenic | 152,222 |
Benign or pathogenic: chromosome 9, position 131515444, gene POMT1 (protein O-mannosyltransferase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | CAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCT... | CAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCT... | pathogenic | 152,223 |
Is chromosome 9, position 131515445, gene POMT1 (protein O-mannosyltransferase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Inborn_genetic_diseases', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscula... | AAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCTG... | AAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCTG... | pathogenic | 152,224 |
For chromosome 9, position 131518454, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | TCACAGGGAGCACTCCATCACACGGAGCACTTGCTCACACGGAGCACTTCCTGACATGGAATGTTTGAAACTGCCGTTGAGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCG... | TCACAGGGAGCACTCCATCACACGGAGCACTTGCTCACACGGAGCACTTCCTGACATGGAATGTTTGAAACTGCCGTTGAGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCG... | pathogenic | 152,234 |
Mutation found at chromosome 9 position 131518466, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1'] | CTCCATCACACGGAGCACTTGCTCACACGGAGCACTTCCTGACATGGAATGTTTGAAACTGCCGTTGAGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCGCTTGAGGCTCTG... | CTCCATCACACGGAGCACTTGCTCACACGGAGCACTTCCTGACATGGAATGTTTGAAACTGCCGTTGAGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCGCTTGAGGCTCTG... | pathogenic | 152,235 |
For chromosome 9, position 131518533, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | AGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCGCTTGAGGCTCTGCCAGGTGAAAGTTCTCCCAACCTGTTTAGCCTCAGGAGCAGGTCCTGAACACAGGACACGAGCTCCA... | AGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCGCTTGAGGCTCTGCCAGGTGAAAGTTCTCCCAACCTGTTTAGCCTCAGGAGCAGGTCCTGAACACAGGACACGAGCTCCA... | pathogenic | 152,239 |
Gene mutation in POMT1 (protein O-mannosyltransferase 1) at chromosome 9, position 131518948—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | CGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAG... | CGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAG... | pathogenic | 152,246 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 131519425, gene POMT1 (protein O-mannosyltransferase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGT... | TGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGT... | pathogenic | 152,251 |
Is the variant located on chromosome 9 at position 131519450, gene POMT1 (protein O-mannosyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | ATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGC... | ATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGC... | pathogenic | 152,253 |
Is the variant located on chromosome 9 at position 131519454, gene POMT1 (protein O-mannosyltransferase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | AATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCC... | AATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCC... | pathogenic | 152,254 |
Is the genetic variant on chromosome 9, position 131520149, gene POMT1 (protein O-mannosyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker... | GGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAAT... | GGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAAT... | pathogenic | 152,258 |
Variant at chromosome 9, position 131521369, gene POMT1 (protein O-mannosyltransferase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAA... | ACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAA... | pathogenic | 152,267 |
The mutation impacting POMT1 (protein O-mannosyltransferase 1) on chromosome 9 at position 131521490: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCC... | GTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCC... | benign | 152,270 |
Variant at chromosome position 131522040, chromosome 9, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCT... | GGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCT... | benign | 152,274 |
Is the genetic variant on chromosome 9, position 131522197, gene POMT1 (protein O-mannosyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATT... | ACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATT... | pathogenic | 152,280 |
A mutation at chromosome position 131522961 on chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1', 'Walker... | GCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCG... | GCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCG... | pathogenic | 152,285 |
Chromosome 9, position 131523025, gene POMT1 (protein O-mannosyltransferase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Abnormal_brainstem_morphology', 'Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Inborn_genetic_diseases', 'Muscular_dystrophy-dystroglycanopathy,_type_C', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_... | TATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCC... | TATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCC... | pathogenic | 152,288 |
Chromosome 9, position 131523037, gene POMT1 (protein O-mannosyltransferase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1'] | CCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGA... | CCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGA... | pathogenic | 152,289 |
Variant in gene SETX (senataxin), located at chromosome 9 position 132263806: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CACAATAAATCCAAGGCAAATTATATACAAAGAAACAAAACAAGCTTTTAAGTAGCACATATTCATTTGAAATAACTAATATTGAAAGAAGACAGGGAACTTTCTTTTAATGCCATGGCAAAGACGAAGCGAAGAGCCACACTTCACACCTTGTAAAAAGAATAGCCCTGTTCAACAACGCTGCGCTGACAGCCACATCAGGAGGGGCCACGGTGAACATAGGAAATGGCTTTGGCAAATACTTGTACCAACTGGAACGAGTGAAGTTTCAAAAGTAATGTGAGGTACAACTGCATTCCGCTGTGAAAGGCCGTCACAGG... | CACAATAAATCCAAGGCAAATTATATACAAAGAAACAAAACAAGCTTTTAAGTAGCACATATTCATTTGAAATAACTAATATTGAAAGAAGACAGGGAACTTTCTTTTAATGCCATGGCAAAGACGAAGCGAAGAGCCACACTTCACACCTTGTAAAAAGAATAGCCCTGTTCAACAACGCTGCGCTGACAGCCACATCAGGAGGGGCCACGGTGAACATAGGAAATGGCTTTGGCAAATACTTGTACCAACTGGAACGAGTGAAGTTTCAAAAGTAATGTGAGGTACAACTGCATTCCGCTGTGAAAGGCCGTCACAGG... | benign | 152,318 |
A mutation at chromosome position 132269711 on chromosome 9 in gene SETX: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GAGTGAAGACAATGTCGGTGCCATTAGCTGGAGGTCAGTGGTCTGCACAGTTGTGCAAGTGTGACCCAGGGGCTCCCAAACACTGTCTAAACGGAATGTGAAAAAGGGTTACAGAATAACCTTGCAAACCCTACTTCCCATGTCCTCCTTGGGCTGCCCTGCCTCCTGCACCCCACCCTTCACAATCATGATGCGCCTCATCCATCCAGAGTGCACTGCCAAGACACATCAACACCATGAGGTGCCAACTTAAGGGAGGATGAAAAACAGTAGTGCCCACAAAGCCTCCTTTAATCAAGGCATCACTAAAAGATGTATCT... | GAGTGAAGACAATGTCGGTGCCATTAGCTGGAGGTCAGTGGTCTGCACAGTTGTGCAAGTGTGACCCAGGGGCTCCCAAACACTGTCTAAACGGAATGTGAAAAAGGGTTACAGAATAACCTTGCAAACCCTACTTCCCATGTCCTCCTTGGGCTGCCCTGCCTCCTGCACCCCACCCTTCACAATCATGATGCGCCTCATCCATCCAGAGTGCACTGCCAAGACACATCAACACCATGAGGTGCCAACTTAAGGGAGGATGAAAAACAGTAGTGCCCACAAAGCCTCCTTTAATCAAGGCATCACTAAAAGATGTATCT... | benign | 152,340 |
Is the variant located on chromosome 9 at position 132271786, gene SETX (senataxin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Amyotrophic_lateral_sclerosis_type_4', 'SETX-related_disorder', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | AATGACTTAACATGCCCATGTGAGACAAAGGTGGACTCTAGAATGACTCAACGTGCCCGTGTCTGACAGAGGTGGAATCTTGAATGACTCAGTGAGCCCGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGATTCTAGAATGACTCAGCATCCTCATGTGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGACTCTAGAATGACTCAGCATCCTCATGTGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGACT... | AATGACTTAACATGCCCATGTGAGACAAAGGTGGACTCTAGAATGACTCAACGTGCCCGTGTCTGACAGAGGTGGAATCTTGAATGACTCAGTGAGCCCGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGATTCTAGAATGACTCAGCATCCTCATGTGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGACTCTAGAATGACTCAGCATCCTCATGTGAGACACAGGTGGACTCTAGAATGACTCAGCGTGCCCGTGTGAGACACAGGTGGACT... | pathogenic | 152,343 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 132275353, gene SETX (senataxin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_4', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | GGCGTGTGCCACCATGCCCAACTGATTTTTGTATAATTAGTAGAGACAAGATTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCTATTTAGGTGTTCTTTAATTCCTTTCAACAACGTTTTGCAGTTTTCAGCGTACAAGTCTTATACTTCTTTGGTTCTATTTATTCCGAAGTGTTTTATTCTTTTTGATGCTATTGTAAATGGAATTGTTTCAACTTCCTTTTCAGATTGTTCATTGCTAGTTG... | GGCGTGTGCCACCATGCCCAACTGATTTTTGTATAATTAGTAGAGACAAGATTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCTATTTAGGTGTTCTTTAATTCCTTTCAACAACGTTTTGCAGTTTTCAGCGTACAAGTCTTATACTTCTTTGGTTCTATTTATTCCGAAGTGTTTTATTCTTTTTGATGCTATTGTAAATGGAATTGTTTCAACTTCCTTTTCAGATTGTTCATTGCTAGTTG... | pathogenic | 152,348 |
Regarding the variant at chromosome 9 and position 132277097, affecting gene SETX (senataxin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_4', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | TTGACATTCCAACTGCCAGGAAGTAACCTGTCTACCCAGGAGCCACACAGCACAAGTCTATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAAT... | TTGACATTCCAACTGCCAGGAAGTAACCTGTCTACCCAGGAGCCACACAGCACAAGTCTATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAAT... | pathogenic | 152,353 |
Variant in gene SETX (senataxin), located at chromosome 9 position 132277156: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAATAAGCTTAATTATTTCCATCACCAGTTTTATTTCTTGAACATTTATATATGAGCTAAACA... | ATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAATAAGCTTAATTATTTCCATCACCAGTTTTATTTCTTGAACATTTATATATGAGCTAAACA... | benign | 152,354 |
Located at chromosome 9 position 132277156, the variant affecting gene SETX (senataxin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAATAAGCTTAATTATTTCCATCACCAGTTTTATTTCTTGAACATTTATATATGAGCTAAACA... | ATGAAAGCCAGCAGCATCCCAGCTTCCTCGTGCCGTATCACCAATTTGCACAGACCACTCCTTAAGAGTTTCCCTTTTCTTCTTTCCTTCTATATCCTCTCATTCTAATTCAACAAGAAAATTGGAAATATTTATAAAAATGCCTCACCCTTTTCTATCGAACTCTTTGTCCAAATCCTTCTGAATCATCGTCTTCTGGGCCTTGTAATGAGTTATTATGCCAATGTTTCGAAAACTAACATCCTTTCTTTTGTCTTTAATAAGCTTAATTATTTCCATCACCAGTTTTATTTCTTGAACATTTATATATGAGCTAAACA... | benign | 152,355 |
The genetic variant at chromosome 9, position 132278181, affecting gene SETX (senataxin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | CCCGCCTTGCTTTACGAGCCTTAAATACCCATTCTCCTAACTTTGAGACTTACTAAATGGACAACCCAATCAGCTAGCGATCTCTTCCATCCCTGAAATCCTCATGATGCTCTGCGGCTTAACTCGCAATCCTCTGCTCTCCTCCAAGAGGCCTCATTAAAACCTTTAGGCTGCAGTCCCTCCAGCACTACAATCCCATGGCCAACAACTCCTCTGTATGTGTAACCTCTTCAATGAGTGTTCCCTACTTCCACCTCTGTATCTTATCTAACGCCTGATTCTCGCCTGAGGACGCCACCTGCTCTGCAGCCATCCCATGA... | CCCGCCTTGCTTTACGAGCCTTAAATACCCATTCTCCTAACTTTGAGACTTACTAAATGGACAACCCAATCAGCTAGCGATCTCTTCCATCCCTGAAATCCTCATGATGCTCTGCGGCTTAACTCGCAATCCTCTGCTCTCCTCCAAGAGGCCTCATTAAAACCTTTAGGCTGCAGTCCCTCCAGCACTACAATCCCATGGCCAACAACTCCTCTGTATGTGTAACCTCTTCAATGAGTGTTCCCTACTTCCACCTCTGTATCTTATCTAACGCCTGATTCTCGCCTGAGGACGCCACCTGCTCTGCAGCCATCCCATGA... | pathogenic | 152,359 |
Determine if the mutation at chromosome 9, position 132281588 in gene SETX (senataxin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTAC... | AAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTAC... | benign | 152,363 |
Evaluate if the mutation on chromosome 9 at position 132283387 in SETX (senataxin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_4', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | TCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCGGAGGGAGCTGCTTAGGATCTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCAT... | TCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCGGAGGGAGCTGCTTAGGATCTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCAT... | pathogenic | 152,371 |
Assess the variant on chromosome 9, position 132297005, impacting SETX (senataxin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cerebral_palsy', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | CTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTA... | CTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTA... | pathogenic | 152,384 |
Does the variant on chromosome 9 at location 132298067 affecting gene SETX (senataxin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGA... | TCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGA... | benign | 152,386 |
Clinical significance of chromosome 9, position 132298268, gene SETX (senataxin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | TGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGG... | TGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGG... | pathogenic | 152,390 |
Classify the chromosome 9 variant at position 132300812 affecting gene SETX (senataxin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTAACATGGATAGAAGGAAAAATAGGGAGAAGAACGCTTAGCGACTCAGAGTAAAACGGGGCTACATTTTATAGGGCTGTGCAGATCACAGTAATGACTCTGAACGCTATTCAGGATCAGGGTAGAAAACCATTGGGCACTCTGTGTAGGGAAATAACATGCTCTATCTCACAAACTAAAAGAACCACTCTTACCTCAGAACAAAGAATAACTACAATGAGAAAAGTACAGAAACAAAAAGACCACTTACAAGGTTACCATAGTAATTTAGGTAAAAGTTAATGACAGCTTGGACCAGGAGGCACTAGTAGACGTGGGAA... | CTAACATGGATAGAAGGAAAAATAGGGAGAAGAACGCTTAGCGACTCAGAGTAAAACGGGGCTACATTTTATAGGGCTGTGCAGATCACAGTAATGACTCTGAACGCTATTCAGGATCAGGGTAGAAAACCATTGGGCACTCTGTGTAGGGAAATAACATGCTCTATCTCACAAACTAAAAGAACCACTCTTACCTCAGAACAAAGAATAACTACAATGAGAAAAGTACAGAAACAAAAAGACCACTTACAAGGTTACCATAGTAATTTAGGTAAAAGTTAATGACAGCTTGGACCAGGAGGCACTAGTAGACGTGGGAA... | benign | 152,395 |
Gene mutation in SETX (senataxin) at chromosome 9, position 132311819—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Abnormal_central_motor_function', 'Amyotrophic_lateral_sclerosis', 'Amyotrophic_lateral_sclerosis_type_4', 'Cerebellar_ataxia', 'SETX-related_disorder', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | GTTTGCTAACCTTTGTTCTAGAAGGTAAGAGAGATCCTGATCCATGGGTGATGGGGGTGGGGGCAAAGGAAGGCAAGAGAATGTAATTTGCAACCTGTAGCAGAGAAAGATTTCTTACTCTTCATTTAAGAAACGGGACACAGAGCACTGACAATAAAAGACTGATGTATTTACTATGTTCAAATAAGCAATTCTCAATAAGAATGAAAAAGAAATTTTTAAGACATCACTAAAAAGAGTCAGTATGTAAGTCAAAGTGAGGAAATGACTTCTACCCAGATTATATAAAGAACTCCTACAAATCAACTGAAAAAAAGACA... | GTTTGCTAACCTTTGTTCTAGAAGGTAAGAGAGATCCTGATCCATGGGTGATGGGGGTGGGGGCAAAGGAAGGCAAGAGAATGTAATTTGCAACCTGTAGCAGAGAAAGATTTCTTACTCTTCATTTAAGAAACGGGACACAGAGCACTGACAATAAAAGACTGATGTATTTACTATGTTCAAATAAGCAATTCTCAATAAGAATGAAAAAGAAATTTTTAAGACATCACTAAAAAGAGTCAGTATGTAAGTCAAAGTGAGGAAATGACTTCTACCCAGATTATATAAAGAACTCCTACAAATCAACTGAAAAAAAGACA... | pathogenic | 152,400 |
Clinically, how would you classify the variant at chromosome 9, position 132326354, gene SETX (senataxin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | CGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATA... | CGAATTGATCAAAAGATTTAACATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATA... | pathogenic | 152,403 |
Variant at chromosome 9, position 132326375, gene SETX (senataxin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cerebellar_ataxia', 'Cerebellar_atrophy', 'Dysdiadochokinesis', 'Dysmetria', 'Nystagmus', 'Slightly_reduced_reflexes', 'Slurred_speech', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | CATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATACTAGAGTCCTTATCTCAATCC... | CATAAAGTACATTGATGAAGATACGTTCACTCAAGCTTTATAAAAGCCATTTATCTTGCCATGTACAGTGTTAACAACTCACTTCTCTTCTTTTGTAGTAGACTTGTCCCTTTGTACATTACACTTCCTTCCCCAACACTCCAATCTTGTTACCAGACTGTCTTTGCACTCCACTCTGCCTGTAACATACTTCCCACAGTTAACTCCTAGTCACTTGGGTCTCAGTGTAAATATCATCTGCTCATAGAGGTTATCTGATCTCTCCAGAAAGTGCCCTGTCCCCTTTGTTCTAGATCATACTAGAGTCCTTATCTCAATCC... | pathogenic | 152,404 |
Regarding the variant at chromosome 9 and position 132328430, affecting gene SETX (senataxin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGA... | TTGTGAAATCTGACAGGCACAGGTCTTGAGATGGACTGACAAAGACTTGCAGGGGGCCCACACTGACCAAAGTTCAAAAACATTTCATATTTCCATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGA... | benign | 152,442 |
Regarding the variant found on chromosome 9 at position 132328523 in gene SETX (senataxin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTT... | CATTTTAAGACCTCTTTAACGAAGGTGTCAGAGACAGACTGTGATGACAAAAGAATGTTTACTGGAGAGGAAGATGGAAAATATTTGCTTTCACCAAATGGAACTTTGCAACCTTGCCTGTTGGAATTATTCGGAGACTGAGGATGAAGAACATTGCACGAATTCTTCATTTCACCAACTGGCTTCTGAGCTATGAGGGGAACTGGCTGTGGTACTTTCAAAATCGACTGTATCCCCTTTGACTTATTTTTTAGAGACGGTGAAAGTGCTGAAGAAGTTTCCAAAGATTTAGAAAGACCAGCAATTCGTGAAGTACTCTT... | benign | 152,446 |
Determine if the mutation at chromosome 9, position 132329207 in gene SETX (senataxin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Amyotrophic_lateral_sclerosis_type_4', 'Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2'] | AAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTT... | AAAGCTGCCATCTCTATATGACGTGCTGTTGGATCACCTCCACCCAGAGGGTCTTCTGAAGTGGAGACAATTACTTCATTTGTTGGTACTGTTCCATTTAACACTACAGAATCACACTGGTTCAAAGGGCAAGCATCATCAGTTGCTGGAGACCCATGTTTTGCTTTTATGGTTTCTGGTTCAGAAGGCATGCATTTTATTAACTGTTTTCTGTTACTGTTGGCAAGTACCTCAGTTCCTCCTGTACAATTATAATCTGACCTATCAGATTCTGGTACAAATATGTCAGAATTCTGTGCTGTATGTGACCCTGCTCTTTT... | pathogenic | 152,456 |
Evaluate the clinical significance of the mutation at chromosome 9, position 132895945 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTATCATGTCCAAAACCAAACCAAACCTAACTACTGACTCTGGAGTTCTTTGCAACATGAAAGCCTACATTTTTAGGTTGGGCACCTTCAACATGACTCCAGGTCTCATTCTCCCAACCGTAGTTGAATAAAACCCACAGCCTCCTAGAACTCAAAGGCACCTGAGCTTGGAGCCACATTTGTTATAAAGCTGAGTAAAAGGACACCCAGGCCGCATGGATGAGCTGAGGACCCTGTGCAGACACGTCCATGGAGCTTCTAGCACAGGCCTCTCTCCATGCTGCCTCCTTTCTTCCCTTTATTTTTATAAGCTGTCCGTT... | TTATCATGTCCAAAACCAAACCAAACCTAACTACTGACTCTGGAGTTCTTTGCAACATGAAAGCCTACATTTTTAGGTTGGGCACCTTCAACATGACTCCAGGTCTCATTCTCCCAACCGTAGTTGAATAAAACCCACAGCCTCCTAGAACTCAAAGGCACCTGAGCTTGGAGCCACATTTGTTATAAAGCTGAGTAAAAGGACACCCAGGCCGCATGGATGAGCTGAGGACCCTGTGCAGACACGTCCATGGAGCTTCTAGCACAGGCCTCTCTCCATGCTGCCTCCTTTCTTCCCTTTATTTTTATAAGCTGTCCGTT... | benign | 152,515 |
Chromosome 9, position 132896600, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | benign | 152,584 |
Considering the genetic mutation at chromosome 9, position 132896600, impacting TSC1 (TSC complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | benign | 152,585 |
Determine if the mutation at chromosome 9, position 132896600 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | CCACGCCCTGCCACAGGCTGGGAATCAGTCACACCCAGAAAGCCTGCCTGAACAGGTTTTCTGCTGGTATAGCTAGGGTGACAGAGTCTCTAACTGTCTAGTCCCCTTTAGTTAGGGATGCTAGAATATTTATTGCCATGCTAAAAAAAAAAAAAAAAAAAAAAGACTTTCATTCTCTCTGCTCGAGGCCTCCGTGGGCACTAAGATTTCGTACCGTGACAGTTTTTTACCTCTTTATGACTGAATCCTTCTATTCTTTTTAATGAAAGATAGAAACAGGAAAGCCAAGTTCACTGGCTCCTTCCTACCAAATCCCCCTG... | benign | 152,586 |
Is chromosome 9, position 132897514, gene TSC1 (TSC complex subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Tuberous_sclerosis_1'] | GGTCACAATAGTACCAGCATTCAAGCAAACACCAAATAAATAAGAGGTAGTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGG... | GGTCACAATAGTACCAGCATTCAAGCAAACACCAAATAAATAAGAGGTAGTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGG... | pathogenic | 152,649 |
Variant chromosome 9, position 132897563, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAG... | GTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAG... | pathogenic | 152,661 |
Gene TSC1 (TSC complex subunit 1) variant at chromosome 9, position 132897563—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAG... | GTGGGGGAAGAAGAGACAAGAGCTTTCCCAAAGGGTGTGTGGTCTCCACAGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAG... | pathogenic | 152,662 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132897612—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAG... | AGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAG... | benign | 152,677 |
Benign or pathogenic: chromosome 9, position 132897612, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | benign | AGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAG... | AGTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAG... | benign | 152,678 |
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