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 variant located on chromosome 6 at position 129192770, gene LAMA2 (laminin subunit alpha 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['LAMA2-related_muscular_dystrophy'] | CTGTATCATCTGTATACATAATACATATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTG... | CTGTATCATCTGTATACATAATACATATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTG... | pathogenic | 112,347 |
Clinical classification of chromosome 6, position 129192796, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTGTGGCTGGACTTAAGAGTGCAGAATGG... | ATTATCCACCAACGCTTTAGTTACTATTTGATGTTGCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTGTGGCTGGACTTAAGAGTGCAGAATGG... | pathogenic | 112,349 |
The chromosome 6, position 129192831 genetic variant in gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Merosin_deficient_congenital_muscular_dystrophy'] | GCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTGTGGCTGGACTTAAGAGTGCAGAATGGTAGGAAATGGGCTGGAGAGAGAAAGAAGTCTAGAC... | GCCTAGGCTCTTTCATTATTAAAAGGGGACATTAAATATAGGCAATACCTTCATTCTGAGTTGGTTTGAAAAATTATTACTTAAACTATTTAATAGCAACTGAAATTTTCTTTCTTTAACGTAAATGTGTTTACCTTTCTAACTTCACTGCCTACACTACCCACTGCCTTTTCAAATCTGTGCAAAGAGCATGTTGTCTCCCTATACAGAAAAGTGTCAGAGGAAAATGGGACCTTCTGGGAATTTCACACAGCCTGTGTGGCTGGACTTAAGAGTGCAGAATGGTAGGAAATGGGCTGGAGAGAGAAAGAAGTCTAGAC... | pathogenic | 112,351 |
Variant at chromosome position 129250149, chromosome 6, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TGGTATTAGATTCTCACAGGAGCAGGAACCTTATTGTGAACTGCGCATGCGAGGGATCTAGGCTGCACGCTCCTTATGAGAATCTAATGCCCGATGATCTGATGTGGAACAGTTTTATCCCAAAACCCCTCCTCTGTGTCCATGGAAAAATTGTCTTCCACGAAACCCATGCCTGATGCCAAAAAGGTGGGGAGTGCTGCAAGTTTCCATTATATGTGACTTTATTATAAATAGGTATGAAAAACACATTAGCAAATCAAGTATCATAGGTGATCTTTTTCTACTTCATCTATAGTCGTAACAGCTTTGACATTCAAATT... | TGGTATTAGATTCTCACAGGAGCAGGAACCTTATTGTGAACTGCGCATGCGAGGGATCTAGGCTGCACGCTCCTTATGAGAATCTAATGCCCGATGATCTGATGTGGAACAGTTTTATCCCAAAACCCCTCCTCTGTGTCCATGGAAAAATTGTCTTCCACGAAACCCATGCCTGATGCCAAAAAGGTGGGGAGTGCTGCAAGTTTCCATTATATGTGACTTTATTATAAATAGGTATGAAAAACACATTAGCAAATCAAGTATCATAGGTGATCTTTTTCTACTTCATCTATAGTCGTAACAGCTTTGACATTCAAATT... | pathogenic | 112,356 |
Regarding the variant found on chromosome 6 at position 129250182 in gene LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TTGTGAACTGCGCATGCGAGGGATCTAGGCTGCACGCTCCTTATGAGAATCTAATGCCCGATGATCTGATGTGGAACAGTTTTATCCCAAAACCCCTCCTCTGTGTCCATGGAAAAATTGTCTTCCACGAAACCCATGCCTGATGCCAAAAAGGTGGGGAGTGCTGCAAGTTTCCATTATATGTGACTTTATTATAAATAGGTATGAAAAACACATTAGCAAATCAAGTATCATAGGTGATCTTTTTCTACTTCATCTATAGTCGTAACAGCTTTGACATTCAAATTATACACACTTTGACTCTTTTTATTGACAAAATG... | TTGTGAACTGCGCATGCGAGGGATCTAGGCTGCACGCTCCTTATGAGAATCTAATGCCCGATGATCTGATGTGGAACAGTTTTATCCCAAAACCCCTCCTCTGTGTCCATGGAAAAATTGTCTTCCACGAAACCCATGCCTGATGCCAAAAAGGTGGGGAGTGCTGCAAGTTTCCATTATATGTGACTTTATTATAAATAGGTATGAAAAACACATTAGCAAATCAAGTATCATAGGTGATCTTTTTCTACTTCATCTATAGTCGTAACAGCTTTGACATTCAAATTATACACACTTTGACTCTTTTTATTGACAAAATG... | pathogenic | 112,358 |
Chromosome 6, position 129252088, gene LAMA2 (laminin subunit alpha 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | CAACAGTAAGTAAAATATGATTTAATAGCCCATCTCCTATCCCGTAATGATTATGCATCTTCTGTCTTGTAGCTCCCAGCAGTAGGAGGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGTAGAGTACTGAGAGCATGTTCACCCGTGTTACTTCCTGATGTTACTTAAGGTTACCAGTACTGTATTTTTTACCTGCCTGGTTTGACACTGACTTACAGGACTACTAAAAAAAAATATACCTTAGGAGATTTTTGTGCCACTCTT... | CAACAGTAAGTAAAATATGATTTAATAGCCCATCTCCTATCCCGTAATGATTATGCATCTTCTGTCTTGTAGCTCCCAGCAGTAGGAGGACAGTTGACATTTACCATATCATATGACCTTGAAGAAGAGGAAGAAGATACAGAACGTGTTCTCCAGCTTATGATTATCTTAGAGGTAGAGTACTGAGAGCATGTTCACCCGTGTTACTTCCTGATGTTACTTAAGGTTACCAGTACTGTATTTTTTACCTGCCTGGTTTGACACTGACTTACAGGACTACTAAAAAAAAATATACCTTAGGAGATTTTTGTGCCACTCTT... | pathogenic | 112,365 |
The mutation impacting LAMA2 (laminin subunit alpha 2) on chromosome 6 at position 129252243: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['LAMA2-related_disorder', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23', 'likely other unspecified diseases'] | GCTTATGATTATCTTAGAGGTAGAGTACTGAGAGCATGTTCACCCGTGTTACTTCCTGATGTTACTTAAGGTTACCAGTACTGTATTTTTTACCTGCCTGGTTTGACACTGACTTACAGGACTACTAAAAAAAAATATACCTTAGGAGATTTTTGTGCCACTCTTTTGTTTCACTCTGAGACATATCTAGAAGATTGAGTATATTTGTTGGGTTTGAATGATAAAGGAGAACTTTAGACCAGACTTGAAATTAAATTTCAAACATAAGGACCATATTTCCAAAATTTAAATATTATGAAAGTGTTTAGGTACATGCTAAT... | GCTTATGATTATCTTAGAGGTAGAGTACTGAGAGCATGTTCACCCGTGTTACTTCCTGATGTTACTTAAGGTTACCAGTACTGTATTTTTTACCTGCCTGGTTTGACACTGACTTACAGGACTACTAAAAAAAAATATACCTTAGGAGATTTTTGTGCCACTCTTTTGTTTCACTCTGAGACATATCTAGAAGATTGAGTATATTTGTTGGGTTTGAATGATAAAGGAGAACTTTAGACCAGACTTGAAATTAAATTTCAAACATAAGGACCATATTTCCAAAATTTAAATATTATGAAAGTGTTTAGGTACATGCTAAT... | pathogenic | 112,368 |
Variant at chromosome 6, position 129270650, gene LAMA2 (laminin subunit alpha 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CCTTTTTTAACTAATAAAACAGTGTCATTCAGCATAATTTTGAGAGAAGGAAGGGAGAGAACAGACCCTACTAATGATGCCTAGTTTACTGATTTTGTTTCATGAACAGGGAGATAGGAGGTCTCCTTCAAATAACAGAGCGATCTTGAGGAAACAGTGGACATCTTGATGATAAAGACAGAATCTGGTGTTTCCTGAATTTTCCATCATAGCTAGTAAATAGGTGATCATGTAGGATATACTGACTTTCAAGTGCCCTTTCTCCAAAATTGTATTGATAACTAAGTGCTGATATTCCATTTTGAGTATATGGGTTCTGA... | CCTTTTTTAACTAATAAAACAGTGTCATTCAGCATAATTTTGAGAGAAGGAAGGGAGAGAACAGACCCTACTAATGATGCCTAGTTTACTGATTTTGTTTCATGAACAGGGAGATAGGAGGTCTCCTTCAAATAACAGAGCGATCTTGAGGAAACAGTGGACATCTTGATGATAAAGACAGAATCTGGTGTTTCCTGAATTTTCCATCATAGCTAGTAAATAGGTGATCATGTAGGATATACTGACTTTCAAGTGCCCTTTCTCCAAAATTGTATTGATAACTAAGTGCTGATATTCCATTTTGAGTATATGGGTTCTGA... | pathogenic | 112,384 |
Variant at chromosome 6, position 129280059, gene LAMA2 (laminin subunit alpha 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GGCCAATATGGTGAGACCCCATTTCTACTAAAAATACAAAAATGGGCCAGGCCTGGTAGCACCTGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACACTAGAATCGCTTGAACCCAGTAGGCAGGGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGTCTGGGCAACAGAGCAAGACTCTGTCTCAAATAAAATAAAATAAAATATTTTTAAAAATGTCAGAAGCCTTGTCAACCACCATTGACAAGAGTTATGATAAACTGATTTAGGATTATAAAAAACAATTGGTATGGTTTTCTTTCAATCAGTGTAGTC... | GGCCAATATGGTGAGACCCCATTTCTACTAAAAATACAAAAATGGGCCAGGCCTGGTAGCACCTGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACACTAGAATCGCTTGAACCCAGTAGGCAGGGGTTTCAGTGAGCCAAGATTGCACCACTGCACTCCAGTCTGGGCAACAGAGCAAGACTCTGTCTCAAATAAAATAAAATAAAATATTTTTAAAAATGTCAGAAGCCTTGTCAACCACCATTGACAAGAGTTATGATAAACTGATTTAGGATTATAAAAAACAATTGGTATGGTTTTCTTTCAATCAGTGTAGTC... | pathogenic | 112,391 |
The chromosome 6, position 129287861 genetic variant in gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TATTTTATAATACAGAATTAACAAACAATTATATCTGTGGTTGGCAATATTCTTCTAAGCAGTATTTATACAACTCATAAGTGTATAAAATCTTTTGTGAATATAAGTAATTTCATTTTAAAAATTATGATAAAACATCAAATCTATGAATTATAGTACCTAAGTACCTATACATTTTCTAGAAAACTTAGAATCATCAATGTATCTGCACCAAATTAATGGCTCTGCCCCAGAATTGGGATTTGTTAAAGTACTCTCAATATAATGTACTGGATTTAAACCATTTTTATTTCAAATGGTAGAGAGCCTTTCTCTAAATA... | TATTTTATAATACAGAATTAACAAACAATTATATCTGTGGTTGGCAATATTCTTCTAAGCAGTATTTATACAACTCATAAGTGTATAAAATCTTTTGTGAATATAAGTAATTTCATTTTAAAAATTATGATAAAACATCAAATCTATGAATTATAGTACCTAAGTACCTATACATTTTCTAGAAAACTTAGAATCATCAATGTATCTGCACCAAATTAATGGCTCTGCCCCAGAATTGGGATTTGTTAAAGTACTCTCAATATAATGTACTGGATTTAAACCATTTTTATTTCAAATGGTAGAGAGCCTTTCTCTAAATA... | pathogenic | 112,395 |
Determine whether the variant at chromosome 6, position 129288059, in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | AATGTATCTGCACCAAATTAATGGCTCTGCCCCAGAATTGGGATTTGTTAAAGTACTCTCAATATAATGTACTGGATTTAAACCATTTTTATTTCAAATGGTAGAGAGCCTTTCTCTAAATAATGACTGCATATCTGTGAGTAGATGAGCATAAAAGTGGTGTACTACTGAGGAAATTATATTCTCCCACATTGTTTTTGATCCCCTTCAATTTTGACACTTGCTGCAAAAGACTTTATCTTGGTAAGATGGCAAAGATAACAGAGCTAGCCTGACCATAAGATTCAGATGCCCTGTTCTGTTTCTCCTTTGGCAAATGT... | AATGTATCTGCACCAAATTAATGGCTCTGCCCCAGAATTGGGATTTGTTAAAGTACTCTCAATATAATGTACTGGATTTAAACCATTTTTATTTCAAATGGTAGAGAGCCTTTCTCTAAATAATGACTGCATATCTGTGAGTAGATGAGCATAAAAGTGGTGTACTACTGAGGAAATTATATTCTCCCACATTGTTTTTGATCCCCTTCAATTTTGACACTTGCTGCAAAAGACTTTATCTTGGTAAGATGGCAAAGATAACAGAGCTAGCCTGACCATAAGATTCAGATGCCCTGTTCTGTTTCTCCTTTGGCAAATGT... | pathogenic | 112,401 |
Regarding the variant found on chromosome 6 at position 129297740 in gene LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | GATATTTGATTGATTTAAAGGGGTGTACACACACCCCTTTAATGAGTAAATCAATATGAGAGTGTGGATATATAGATGTAAATATATATGAGTAAATGTATATATATATGAGTGTGTATATATATGTGTTTATACATATATCGGCATAGATATATGAGTGAAGACAATTTCTGAAATAAAGATGAATACAAAGTATTATTTCTATGACTCAGATATTTTTCAATACCGTTTTAATATATTATGTTTAGTCTTTTTGTCTATGTATTTCTGTTTCTGTTTGTGTGTCTGGTGGTATGGGTATGTAATTGAAATTTACATAG... | GATATTTGATTGATTTAAAGGGGTGTACACACACCCCTTTAATGAGTAAATCAATATGAGAGTGTGGATATATAGATGTAAATATATATGAGTAAATGTATATATATATGAGTGTGTATATATATGTGTTTATACATATATCGGCATAGATATATGAGTGAAGACAATTTCTGAAATAAAGATGAATACAAAGTATTATTTCTATGACTCAGATATTTTTCAATACCGTTTTAATATATTATGTTTAGTCTTTTTGTCTATGTATTTCTGTTTCTGTTTGTGTGTCTGGTGGTATGGGTATGTAATTGAAATTTACATAG... | pathogenic | 112,412 |
Mutation found at chromosome 6 position 129300785, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TTTAAAGAACCAATATCTTTCAGACATTCTCCAGCACTTTAGATATGTGGATTTTACCATAAATTAAGCCATGATAAGTTATTCTAATTGATAAGTTATTCTAATTGATAAGTTATTCTAAATGATAAGTTTATAATTGTAGATCCTCTAAGAATCTGTATATCTCTAAGCCAATATCTGTATAACTTAAAAATTATAAAGCTGTATTTTAAAATATACTCTGTTCTTTAAATCCAAAGCTCACTGACATTTTTACTTAATATGAATTAATGAGGTAGTATTATACATTTAAATACATATAGTAACAAATTATAAATGAG... | TTTAAAGAACCAATATCTTTCAGACATTCTCCAGCACTTTAGATATGTGGATTTTACCATAAATTAAGCCATGATAAGTTATTCTAATTGATAAGTTATTCTAATTGATAAGTTATTCTAAATGATAAGTTTATAATTGTAGATCCTCTAAGAATCTGTATATCTCTAAGCCAATATCTGTATAACTTAAAAATTATAAAGCTGTATTTTAAAATATACTCTGTTCTTTAAATCCAAAGCTCACTGACATTTTTACTTAATATGAATTAATGAGGTAGTATTATACATTTAAATACATATAGTAACAAATTATAAATGAG... | pathogenic | 112,420 |
Located at chromosome 6 position 129312825, the variant affecting gene LAMA2 (laminin subunit alpha 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATGCTCCTTCTCCCCACTTGCAGCAAAGCTGAGGTTCAGAAATCTTTCAAGAGGGCGTTGCTGTCATAGGAATGTACAGCCTATGGATGGTCAAACAAAACCAAAAACAAACACGTCGGAGTTTGTAGGCAAATGCATGTCTGTAGAAGCTGCCCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTG... | ATGCTCCTTCTCCCCACTTGCAGCAAAGCTGAGGTTCAGAAATCTTTCAAGAGGGCGTTGCTGTCATAGGAATGTACAGCCTATGGATGGTCAAACAAAACCAAAAACAAACACGTCGGAGTTTGTAGGCAAATGCATGTCTGTAGAAGCTGCCCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTG... | benign | 112,424 |
Evaluate the clinical significance of the mutation at chromosome 6, position 129312900 in gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ACAGCCTATGGATGGTCAAACAAAACCAAAAACAAACACGTCGGAGTTTGTAGGCAAATGCATGTCTGTAGAAGCTGCCCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTGCTAAATAATACAAAAATAATGATGAAGATTCTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGTCGCCTAGGCTGG... | ACAGCCTATGGATGGTCAAACAAAACCAAAAACAAACACGTCGGAGTTTGTAGGCAAATGCATGTCTGTAGAAGCTGCCCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTGCTAAATAATACAAAAATAATGATGAAGATTCTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGTCGCCTAGGCTGG... | pathogenic | 112,427 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 129312978, gene LAMA2 (laminin subunit alpha 2): what disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTGCTAAATAATACAAAAATAATGATGAAGATTCTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCAGGAG... | CCACCGTTCTTGGAGGATAGGAGCACGCTGGGCTACTGAGAAGCCGACTTCAAGGTCAGAGCGTGTGTGCAGACCAAAGCTAGTCAGAAGGGTGCCTATGGAGAGACAATGTGCCCTCCCAACTAAAGGCACACCTGGGATTCTTTCTGGGCCACTGGGCTCCCGTGCTAAATAATACAAAAATAATGATGAAGATTCTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCAGGAG... | pathogenic | 112,432 |
A genetic alteration at chromosome 6, position 129315539, in gene LAMA2 (laminin subunit alpha 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | CAAAAATTAATCTGCAATCGCTGTATACTAGAAAATATATTTACTGCTGTGGAAGTTTAGTAAAATTTCAACACATATAAACGCTGTCATTACAAACAGTGACTATGTGCAAATTTCAGCCCTCATTAATATGGTTAAATGATGTAGAAAAAGAGCCAATTAAAAAGGTAAAAAGGATTTTTCCCCTCAGATAGTTCTGAAAAATCAATTCCAGGATAAATGCAGTTTAAACTGTGTCAGAGGTATCTTTTCAAGATAAAATCTATGCAAAAAGGGACAGAGGAAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAA... | CAAAAATTAATCTGCAATCGCTGTATACTAGAAAATATATTTACTGCTGTGGAAGTTTAGTAAAATTTCAACACATATAAACGCTGTCATTACAAACAGTGACTATGTGCAAATTTCAGCCCTCATTAATATGGTTAAATGATGTAGAAAAAGAGCCAATTAAAAAGGTAAAAAGGATTTTTCCCCTCAGATAGTTCTGAAAAATCAATTCCAGGATAAATGCAGTTTAAACTGTGTCAGAGGTATCTTTTCAAGATAAAATCTATGCAAAAAGGGACAGAGGAAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAA... | pathogenic | 112,444 |
A genetic variant at chromosome 6, position 129315548, affecting gene LAMA2 (laminin subunit alpha 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['LAMA2-related_disorder', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ATCTGCAATCGCTGTATACTAGAAAATATATTTACTGCTGTGGAAGTTTAGTAAAATTTCAACACATATAAACGCTGTCATTACAAACAGTGACTATGTGCAAATTTCAGCCCTCATTAATATGGTTAAATGATGTAGAAAAAGAGCCAATTAAAAAGGTAAAAAGGATTTTTCCCCTCAGATAGTTCTGAAAAATCAATTCCAGGATAAATGCAGTTTAAACTGTGTCAGAGGTATCTTTTCAAGATAAAATCTATGCAAAAAGGGACAGAGGAAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAATGGCCTTGA... | ATCTGCAATCGCTGTATACTAGAAAATATATTTACTGCTGTGGAAGTTTAGTAAAATTTCAACACATATAAACGCTGTCATTACAAACAGTGACTATGTGCAAATTTCAGCCCTCATTAATATGGTTAAATGATGTAGAAAAAGAGCCAATTAAAAAGGTAAAAAGGATTTTTCCCCTCAGATAGTTCTGAAAAATCAATTCCAGGATAAATGCAGTTTAAACTGTGTCAGAGGTATCTTTTCAAGATAAAATCTATGCAAAAAGGGACAGAGGAAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAATGGCCTTGA... | pathogenic | 112,445 |
Located at chromosome 6 position 129315822, the variant affecting gene LAMA2 (laminin subunit alpha 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAATGGCCTTGAGAATTGAGGAAAATGGCAGTTTCTACCATCAAGGGCTTCGGCCAATACCGAGTACAATGCTGCATTCTTATATCTCGCAATTATGATCATATATTTAATACATGTTATGTGTGTATATATATTACAATAATTATATAAATTGATATTTTAACCTGCTGCCTATTTCTTACAGCTTACAATAGCACCACTGTTTAAGACTCAATGTTTTTATGTTGCTTTTGAAATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACC... | AAACAGGAAGATAAAATCTGGGTAGTGGTTGTTAAAATGGCCTTGAGAATTGAGGAAAATGGCAGTTTCTACCATCAAGGGCTTCGGCCAATACCGAGTACAATGCTGCATTCTTATATCTCGCAATTATGATCATATATTTAATACATGTTATGTGTGTATATATATTACAATAATTATATAAATTGATATTTTAACCTGCTGCCTATTTCTTACAGCTTACAATAGCACCACTGTTTAAGACTCAATGTTTTTATGTTGCTTTTGAAATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACC... | pathogenic | 112,450 |
Regarding the variant found on chromosome 6 at position 129315909 in gene LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CCAATACCGAGTACAATGCTGCATTCTTATATCTCGCAATTATGATCATATATTTAATACATGTTATGTGTGTATATATATTACAATAATTATATAAATTGATATTTTAACCTGCTGCCTATTTCTTACAGCTTACAATAGCACCACTGTTTAAGACTCAATGTTTTTATGTTGCTTTTGAAATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACCACTTACATTTAAGAAACAATGTACAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCGGATC... | CCAATACCGAGTACAATGCTGCATTCTTATATCTCGCAATTATGATCATATATTTAATACATGTTATGTGTGTATATATATTACAATAATTATATAAATTGATATTTTAACCTGCTGCCTATTTCTTACAGCTTACAATAGCACCACTGTTTAAGACTCAATGTTTTTATGTTGCTTTTGAAATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACCACTTACATTTAAGAAACAATGTACAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCGGATC... | pathogenic | 112,454 |
Mutation at chromosome 6, position 129316091, within LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy'] | ATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACCACTTACATTTAAGAAACAATGTACAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCATCTACTCGGAAGGCTGAGGCCGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTG... | ATTTTCATGAGTCTTTCATATTGCTCAGAGCAGAACTGTAGAAAATGTACCACTTACATTTAAGAAACAATGTACAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACAATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCATCTACTCGGAAGGCTGAGGCCGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCGCCACTG... | pathogenic | 112,462 |
Is chromosome 6, position 129328354, gene LAMA2 (laminin subunit alpha 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Abnormality_of_the_musculature', 'Merosin_deficient_congenital_muscular_dystrophy'] | GGACCACAGACTCCCACTATGGGCGCTTGTCTATTGTGTCAGGCTGCCTGTCGGGGAAAACCACAGTAATAGGAAAAATGTGTTGTGCGTTAGAGTAGACTTCACCTTAGGGCTCGCCTTCACATTTGGACCTACAACGCTAAACTGTACAATTCCTCGATGAGGAGTATTACTTCTTGTGTTTCTTTTTCTTCTAAGATTTATTTTAAACTTTTGTTTGAGCTTCAAGGAAACTTCCTCTCAATTTGTGTGATTTTTTACACAAATTTTTACAGACAGTAATTACAGTAATAACTTAGTAGAGAGATTACAGAGATAAA... | GGACCACAGACTCCCACTATGGGCGCTTGTCTATTGTGTCAGGCTGCCTGTCGGGGAAAACCACAGTAATAGGAAAAATGTGTTGTGCGTTAGAGTAGACTTCACCTTAGGGCTCGCCTTCACATTTGGACCTACAACGCTAAACTGTACAATTCCTCGATGAGGAGTATTACTTCTTGTGTTTCTTTTTCTTCTAAGATTTATTTTAAACTTTTGTTTGAGCTTCAAGGAAACTTCCTCTCAATTTGTGTGATTTTTTACACAAATTTTTACAGACAGTAATTACAGTAATAACTTAGTAGAGAGATTACAGAGATAAA... | pathogenic | 112,471 |
Variant in LAMA2 (laminin subunit alpha 2), chromosome 6, position 129328380—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TTGTCTATTGTGTCAGGCTGCCTGTCGGGGAAAACCACAGTAATAGGAAAAATGTGTTGTGCGTTAGAGTAGACTTCACCTTAGGGCTCGCCTTCACATTTGGACCTACAACGCTAAACTGTACAATTCCTCGATGAGGAGTATTACTTCTTGTGTTTCTTTTTCTTCTAAGATTTATTTTAAACTTTTGTTTGAGCTTCAAGGAAACTTCCTCTCAATTTGTGTGATTTTTTACACAAATTTTTACAGACAGTAATTACAGTAATAACTTAGTAGAGAGATTACAGAGATAAAGTCCTATCTCTCATAGTAACACACAT... | TTGTCTATTGTGTCAGGCTGCCTGTCGGGGAAAACCACAGTAATAGGAAAAATGTGTTGTGCGTTAGAGTAGACTTCACCTTAGGGCTCGCCTTCACATTTGGACCTACAACGCTAAACTGTACAATTCCTCGATGAGGAGTATTACTTCTTGTGTTTCTTTTTCTTCTAAGATTTATTTTAAACTTTTGTTTGAGCTTCAAGGAAACTTCCTCTCAATTTGTGTGATTTTTTACACAAATTTTTACAGACAGTAATTACAGTAATAACTTAGTAGAGAGATTACAGAGATAAAGTCCTATCTCTCATAGTAACACACAT... | pathogenic | 112,473 |
Variant chromosome 6, position 129353172, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? Disease(s)? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ACACCAGTAGGATGGTGACTAAAAGCATCGCTGGACACCAAAAAGATTATCTACAGTAATTCATGAAAAAAAAATTATGATATAGCTACATTTATACACTGTAGTTACCATTTTCTACAAAAGCATGTGTATAGAATAGGCTAGAAGGGTACACTAAAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAAC... | ACACCAGTAGGATGGTGACTAAAAGCATCGCTGGACACCAAAAAGATTATCTACAGTAATTCATGAAAAAAAAATTATGATATAGCTACATTTATACACTGTAGTTACCATTTTCTACAAAAGCATGTGTATAGAATAGGCTAGAAGGGTACACTAAAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAAC... | pathogenic | 112,485 |
Does the variant on chromosome 6 at location 129353320 affecting gene LAMA2 (laminin subunit alpha 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_Muscular_Dystrophy,_LAMA2-related', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GTACACTAAAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAG... | GTACACTAAAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAG... | pathogenic | 112,489 |
Does the variant on chromosome 6 at location 129353328 affecting gene LAMA2 (laminin subunit alpha 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTT... | AAATAACAATTATTGTGTTAAAGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTT... | pathogenic | 112,491 |
The genetic variant at chromosome 6, position 129353349, affecting gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTTAAATCATTTAAATCATCTTTC... | AGCAGAATGATTACAGAAAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTTAAATCATTTAAATCATCTTTC... | pathogenic | 112,492 |
Determine if the mutation at chromosome 6, position 129353366 in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTTAAATCATTTAAATCATCTTTCGACCTGCTCAGACTGAT... | AAATTTATTTGTTAATATCCAGTAGTATTTAATCGATAAAAGCTGTCAGTTTGTGTAGCATAGAGATGAGCAGGGCCATACAGTATCAAATGTGAGTGACTTAAAGTGTTTTTCCAGTCCTCAAACATTGTTATAGCTTTGCATTCATCATCTCTAACATATAAATGATCAGGTTATATTTCTCTGAAAAATTGCTTTATTCAGCTATATTAAACCAAAGTTCTTGGTTAAATTTTTATTGTAACCTTCCAAATAAATTTGTTCCAGTGCTGAGAGCTTCTTAAATCATTTAAATCATCTTTCGACCTGCTCAGACTGAT... | benign | 112,495 |
Clinical classification of chromosome 6, position 129366238, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ATTGTAACTCACCTCTAGCTGCTGTCCTATCAAAAAATCACTCTCCGTCCTCCTTCTCTTTGTTTACAAGCACCAGTTAATGGTTTTCTCTCCATTAAGCAGCTCAGGGGACTGCTGTTTAGAGACCTAATTGAATTCTTGCCAAGTTTGGGCATGATCCAGAGCTGCTCCAATTCTCGGTATTTTCCATGCTATGTATTTTCCCCTATTCTAACATGTATATAGCATTGATACCTCTATCTGCAGAATGTAAGAAATTGTAACTGTATACATGAGAGTATATTATAAATGCAGTAGTTCCTGCTCCTTGGCGTGCAGAT... | ATTGTAACTCACCTCTAGCTGCTGTCCTATCAAAAAATCACTCTCCGTCCTCCTTCTCTTTGTTTACAAGCACCAGTTAATGGTTTTCTCTCCATTAAGCAGCTCAGGGGACTGCTGTTTAGAGACCTAATTGAATTCTTGCCAAGTTTGGGCATGATCCAGAGCTGCTCCAATTCTCGGTATTTTCCATGCTATGTATTTTCCCCTATTCTAACATGTATATAGCATTGATACCTCTATCTGCAGAATGTAAGAAATTGTAACTGTATACATGAGAGTATATTATAAATGCAGTAGTTCCTGCTCCTTGGCGTGCAGAT... | pathogenic | 112,497 |
Evaluate if the mutation on chromosome 6 at position 129391480 in LAMA2 (laminin subunit alpha 2) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TCTCCTTGTTATAGTTTCATGTGGTAGAAAGGGCAAGGGGGTTATCTGGCATCCCTTTTATAAGAGCACTAATTTCATTCTTGCCCTTATGACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGG... | TCTCCTTGTTATAGTTTCATGTGGTAGAAAGGGCAAGGGGGTTATCTGGCATCCCTTTTATAAGAGCACTAATTTCATTCTTGCCCTTATGACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGG... | benign | 112,515 |
Chromosome 6, position 129391499, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TGTGGTAGAAAGGGCAAGGGGGTTATCTGGCATCCCTTTTATAAGAGCACTAATTTCATTCTTGCCCTTATGACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCG... | TGTGGTAGAAAGGGCAAGGGGGTTATCTGGCATCCCTTTTATAAGAGCACTAATTTCATTCTTGCCCTTATGACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCG... | pathogenic | 112,517 |
Is the genetic mutation found on chromosome 6 at position 129391571, within the gene LAMA2 (laminin subunit alpha 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCGAACAACCTGATCTTGTGAGAATTTATTCACTATCACAAGAACAGCAAGGGGGGAGGTTTGCTCCCATGATTC... | ACCTAATCTCCTCTCAAAGGCTCTGTATTAATCTCTTCTCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCGAACAACCTGATCTTGTGAGAATTTATTCACTATCACAAGAACAGCAAGGGGGGAGGTTTGCTCCCATGATTC... | pathogenic | 112,522 |
Is the genetic mutation found on chromosome 6 at position 129391609, within the gene LAMA2 (laminin subunit alpha 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCGAACAACCTGATCTTGTGAGAATTTATTCACTATCACAAGAACAGCAAGGGGGGAGGTTTGCTCCCATGATTCAGTCACCACCCACCAGGCCCCTCCCTCAACATGTGGGT... | TCACGCTGCTATAAAGAACTACCTGAGACTGGGTAACTTATGAAGAAAAGACGTATAAATTGACCACAGTTCTGCAGGCTTAACAAGAAGCATGACTAGGAGGCCTCAGGAAATTTACGATCATGGCAGAAGGCAAAGGGAAAGCAAGGACCTTCTTCACATAGTGGCAGGAAAGAGAGAGAATGAAAGGGGAAGTGCCACATACCTTCGAACAACCTGATCTTGTGAGAATTTATTCACTATCACAAGAACAGCAAGGGGGGAGGTTTGCTCCCATGATTCAGTCACCACCCACCAGGCCCCTCCCTCAACATGTGGGT... | pathogenic | 112,523 |
Determine if the mutation at chromosome 6, position 129393063 in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | AGAACTATGTGGAAATACAAGGGCAGGTTCATTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACT... | AGAACTATGTGGAAATACAAGGGCAGGTTCATTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACT... | pathogenic | 112,528 |
Located at chromosome 6 position 129393069, the variant affecting gene LAMA2 (laminin subunit alpha 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ATGTGGAAATACAAGGGCAGGTTCATTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGT... | ATGTGGAAATACAAGGGCAGGTTCATTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGT... | pathogenic | 112,529 |
Variant at chromosome position 129393094, chromosome 6, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGTTGTCTTAACTGCCTCTGTGGTTCCC... | TTTTCAGAGATCTCATCACTGAGTGTATTTCCACACTCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGTTGTCTTAACTGCCTCTGTGGTTCCC... | pathogenic | 112,531 |
Does the genetic variant at chromosome 6, position 129393130, impacting gene LAMA2 (laminin subunit alpha 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['LAMA2-related_disorder', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGTTGTCTTAACTGCCTCTGTGGTTCCCAGCAGGAACACTCACGGCAAAATACTCTTCATTTGG... | TCAGTATTTTTAAACTGACTGATAGCCACTGCTATGACTATCTTATCAGCAATGCAGAGCTTGCGTTTCCAGCCTCCAAGTGTTATGCTACAGGTCACTGTTTTTTTTAAACTCTTACCTGAGTATGCTTCGACCTACTTCTTTATTTTAATTCTTTCTTTCTTTTGAGGTTAGAAACACCATGCTTTAATTGCTGTAACCCCCAAAAGAAATATAATATTGAGAAACATATTACATTTCCCTGTTTGTTACTGATTGTTGTCTTAACTGCCTCTGTGGTTCCCAGCAGGAACACTCACGGCAAAATACTCTTCATTTGG... | pathogenic | 112,532 |
Does the chromosome 6 mutation at position 129402466 within gene LAMA2 (laminin subunit alpha 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | CATATTGAGATCTAAATGAATTAGCATTATTGTCTATAGAAAAAAACTATAAGTGGTCAAAGCTTAAAATTATAATTGATGCAGTTAAATCTGTAGGTAGAATGGTGATTTCAGGAATAGGAATGAATCAGAAGTATAAAGAATAAAATAAGTAAAAAATAGACCCCAAATGGAGAAATAGCAATATTTGTCTCTCACTGATTTTACTCTTCTAGGCCAGGATTGAGTTTCATGTACTTTTGAGACAAGCTATATGTTCCAAAGAAAAATTATAATCTATTCTCTCATGAAACAGTCCATTAGGTTGATTCTTCCATGTG... | CATATTGAGATCTAAATGAATTAGCATTATTGTCTATAGAAAAAAACTATAAGTGGTCAAAGCTTAAAATTATAATTGATGCAGTTAAATCTGTAGGTAGAATGGTGATTTCAGGAATAGGAATGAATCAGAAGTATAAAGAATAAAATAAGTAAAAAATAGACCCCAAATGGAGAAATAGCAATATTTGTCTCTCACTGATTTTACTCTTCTAGGCCAGGATTGAGTTTCATGTACTTTTGAGACAAGCTATATGTTCCAAAGAAAAATTATAATCTATTCTCTCATGAAACAGTCCATTAGGTTGATTCTTCCATGTG... | pathogenic | 112,548 |
Does the chromosome 6 mutation at position 129403911 within gene LAMA2 (laminin subunit alpha 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TAATTCTCTATTCTTTTTGCTATGTTAGTAAGTTTGAAGTTTCATTTTAAAACTAAACATGTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGCCTGAGCTCGGGAGTTCAAAACCAGCCTGGGCAACATGGCGAAACCCCGTCTCTATTAAATATTCAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCATTCCAGCC... | TAATTCTCTATTCTTTTTGCTATGTTAGTAAGTTTGAAGTTTCATTTTAAAACTAAACATGTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGCCTGAGCTCGGGAGTTCAAAACCAGCCTGGGCAACATGGCGAAACCCCGTCTCTATTAAATATTCAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCATTCCAGCC... | pathogenic | 112,555 |
Gene LAMA2 (laminin subunit alpha 2) variant at chromosome position 129403945 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TGAAGTTTCATTTTAAAACTAAACATGTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGCCTGAGCTCGGGAGTTCAAAACCAGCCTGGGCAACATGGCGAAACCCCGTCTCTATTAAATATTCAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAA... | TGAAGTTTCATTTTAAAACTAAACATGTGGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGCCTGAGCTCGGGAGTTCAAAACCAGCCTGGGCAACATGGCGAAACCCCGTCTCTATTAAATATTCAAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAA... | pathogenic | 112,556 |
For chromosome 6, position 129438704, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ATGGAATCAATCTGCACGTCCACTAGCACTCTTGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGT... | ATGGAATCAATCTGCACGTCCACTAGCACTCTTGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGT... | pathogenic | 112,566 |
Does the chromosome 6 mutation at position 129438713 within gene LAMA2 (laminin subunit alpha 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Abnormality_of_the_musculature'] | ATCTGCACGTCCACTAGCACTCTTGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGTGAGGCTTCT... | ATCTGCACGTCCACTAGCACTCTTGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGTGAGGCTTCT... | pathogenic | 112,567 |
Determine if the mutation at chromosome 6, position 129438736 in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGTGAGGCTTCTCTGATTTCTGTAACTGTGACCAA... | TGTGAACACTTGGCATTATCATACATTTAATTTTCCCCAATCTCAAAAATAAGAAATGACATCTTACTGTTGCTTAGTTTTACAGTTCTTTATGATAATCTTGAGTGCTTTTTACGAATTTCATAAATGATTATGTATGTTTATTTTATTGTGAACTACGTATTCTTATATTTTCCTCATTATCCTTAAAAATATGGAACACTTTGCATATTTGCCTGCCAGTTTTGCACATAGACAATGCTATTCTACTCTGAATAATTACAACTTGGTTATATATGTTGCTTAGGTGAGGCTTCTCTGATTTCTGTAACTGTGACCAA... | pathogenic | 112,568 |
Is the genetic change at chromosome 6, position 129440854, within gene LAMA2 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TTTTGAAGACTGTTGTTAACTTTTACCATTTTTTTCTAAGATTATTCTGGTACTATTATCTGGAAATTAGATACTGTTTTTCTTACTCATGAATTCTTCTTTGTGAGAATGAGAAACTAAACCATACTTTGCATTATGGTATTTTTTATCTTTTATTGCCTTTAGCCAGTATCCTTAGGAATGTGTTACAGAAAGGAAGATATAGACATCTTATTATTATAAAACTCATCCTTCAGTATTGGCAGGGGATTGGTTCCAGGACCCCCCCCCACAGATATCAAAATTCTTGAATACTCAAGTCCCTTTTATAAAATGGCATA... | TTTTGAAGACTGTTGTTAACTTTTACCATTTTTTTCTAAGATTATTCTGGTACTATTATCTGGAAATTAGATACTGTTTTTCTTACTCATGAATTCTTCTTTGTGAGAATGAGAAACTAAACCATACTTTGCATTATGGTATTTTTTATCTTTTATTGCCTTTAGCCAGTATCCTTAGGAATGTGTTACAGAAAGGAAGATATAGACATCTTATTATTATAAAACTCATCCTTCAGTATTGGCAGGGGATTGGTTCCAGGACCCCCCCCCACAGATATCAAAATTCTTGAATACTCAAGTCCCTTTTATAAAATGGCATA... | pathogenic | 112,572 |
Mutation found at chromosome 6 position 129440874, gene LAMA2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TTTTACCATTTTTTTCTAAGATTATTCTGGTACTATTATCTGGAAATTAGATACTGTTTTTCTTACTCATGAATTCTTCTTTGTGAGAATGAGAAACTAAACCATACTTTGCATTATGGTATTTTTTATCTTTTATTGCCTTTAGCCAGTATCCTTAGGAATGTGTTACAGAAAGGAAGATATAGACATCTTATTATTATAAAACTCATCCTTCAGTATTGGCAGGGGATTGGTTCCAGGACCCCCCCCCACAGATATCAAAATTCTTGAATACTCAAGTCCCTTTTATAAAATGGCATAGTATTTGCATATAACCTATG... | TTTTACCATTTTTTTCTAAGATTATTCTGGTACTATTATCTGGAAATTAGATACTGTTTTTCTTACTCATGAATTCTTCTTTGTGAGAATGAGAAACTAAACCATACTTTGCATTATGGTATTTTTTATCTTTTATTGCCTTTAGCCAGTATCCTTAGGAATGTGTTACAGAAAGGAAGATATAGACATCTTATTATTATAAAACTCATCCTTCAGTATTGGCAGGGGATTGGTTCCAGGACCCCCCCCCACAGATATCAAAATTCTTGAATACTCAAGTCCCTTTTATAAAATGGCATAGTATTTGCATATAACCTATG... | pathogenic | 112,573 |
For chromosome 6, position 129452975, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTCTGATAATGATTTTGGTTCACTTTCAGCAGCTTGCTAAAAAATCACTATATCTGACACCCTTTCCTGAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTA... | TCTCTGATAATGATTTTGGTTCACTTTCAGCAGCTTGCTAAAAAATCACTATATCTGACACCCTTTCCTGAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTA... | benign | 112,590 |
Variant at chromosome 6, position 129452998, gene LAMA2 (laminin subunit alpha 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | CTTTCAGCAGCTTGCTAAAAAATCACTATATCTGACACCCTTTCCTGAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATT... | CTTTCAGCAGCTTGCTAAAAAATCACTATATCTGACACCCTTTCCTGAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATT... | pathogenic | 112,592 |
A genetic alteration at chromosome 6, position 129453044, in gene LAMA2 (laminin subunit alpha 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['LAMA2-related_disorder', 'LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATTTGTGAAGCAGGAACTAACTTCCCAACTGAAAACCACCCTATCCAGA... | GAACATTAAAAATATCTGAAGACCATATTTTTCCCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATTTGTGAAGCAGGAACTAACTTCCCAACTGAAAACCACCCTATCCAGA... | pathogenic | 112,595 |
Mutation at chromosome 6, position 129453077, within LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency', 'LAMA2-related_muscular_dystrophy'] | CCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATTTGTGAAGCAGGAACTAACTTCCCAACTGAAAACCACCCTATCCAGAAGACTGTCTCCCTAGGACACAGAACAAACACTC... | CCACCTGCCCTCTACTGTGCTGTCTTTCTCTTGCTTCTCTCTTTTTATCTCTAATCCCTTGGATGACCCTTGGTATAGCTGCCATTGTATCACAGAACACCCTTTGCCAAGTCCCATTGCTCATCTGCTTTGCCATATTAACATCCAAGTAAAAATTGTACATTTCCTACCTCCATTGTTTTGCAATTCATTTTCACTCACCTACTCTCAACACTGTATGTAGAAGGGAAATTCCATGATTTGTGAAGCAGGAACTAACTTCCCAACTGAAAACCACCCTATCCAGAAGACTGTCTCCCTAGGACACAGAACAAACACTC... | pathogenic | 112,597 |
Gene mutation in LAMA2 (laminin subunit alpha 2) at chromosome 6, position 129454196—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | GTAACCCTTTGATGGTGATTTTCCATCTGACCCTACAGAAATTAAATCAAATAATCAACTAGTGTTATTTATGATTGAAGGAAGGCTCTCTAAATATAAGTAAAAATTGGTATGAACAGTATTACTCTATTCATATAGGCATTCCTTTTTTAGCAATTTATAGTAATTTTTAAGGTATTATTCAAAAGAAAAGGGAGCTGTTAAATACATTAATAGTGATAGCCATTGGAAATTATTTCCATTTCATTTCCTGACAACTTCATGAAAAGGTACAATTTATTCTGAAATGTATGTTCTGAGTAGAATGATTAATATTCTTC... | GTAACCCTTTGATGGTGATTTTCCATCTGACCCTACAGAAATTAAATCAAATAATCAACTAGTGTTATTTATGATTGAAGGAAGGCTCTCTAAATATAAGTAAAAATTGGTATGAACAGTATTACTCTATTCATATAGGCATTCCTTTTTTAGCAATTTATAGTAATTTTTAAGGTATTATTCAAAAGAAAAGGGAGCTGTTAAATACATTAATAGTGATAGCCATTGGAAATTATTTCCATTTCATTTCCTGACAACTTCATGAAAAGGTACAATTTATTCTGAAATGTATGTTCTGAGTAGAATGATTAATATTCTTC... | pathogenic | 112,600 |
Evaluate this variant at chromosome 6, position 129456445, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | ATGTAAACACATGTGTATGAATTTTATACATGTCTGGGAGTGGGTATGTTTGTCATACTTCTTAGGAACTGACAAACCTTCCAGGTATTGACCAGAGGAACAACTCCATTTCTGACCCCTTCATCTTGTGTCTGGTAGGAATTTGGGGGTGTCGCTGTTTCAGGCTTCCTATTTTGCCTGAAGAAAGTACTGCCACTTATTCTTATGCAATACAAGCCAAAGCATAAGAGCACCATTATTGCTTGTCTTTGTTGTACACAGCTCCTCCTTTAGTCTACATAGCCACCATAGAAAAATGCAGTTTCAAAACACTGAAATTC... | ATGTAAACACATGTGTATGAATTTTATACATGTCTGGGAGTGGGTATGTTTGTCATACTTCTTAGGAACTGACAAACCTTCCAGGTATTGACCAGAGGAACAACTCCATTTCTGACCCCTTCATCTTGTGTCTGGTAGGAATTTGGGGGTGTCGCTGTTTCAGGCTTCCTATTTTGCCTGAAGAAAGTACTGCCACTTATTCTTATGCAATACAAGCCAAAGCATAAGAGCACCATTATTGCTTGTCTTTGTTGTACACAGCTCCTCCTTTAGTCTACATAGCCACCATAGAAAAATGCAGTTTCAAAACACTGAAATTC... | pathogenic | 112,608 |
Mutation at chromosome 6, position 129460225, within LAMA2 (laminin subunit alpha 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | GTGGTCTTCACTCTCAACATCTTGCTTCACTGCCACAATGAATAGTGAGACACACACTACCATAGAGTGTGTGTATAAAATATATGGCAAATAGCTGAGATGTGGTAGTCACACCTTAAATTGTACCTTAATAATTATTATGCAAATGTAATTGGCACAAAAACAGTATTCTATCAGTCTCAGAAAAAGAAAGAAAACATGAACAAATGAAATCTATAGCAAACCTTAGGAAATCATTTTGGCCAAGAATTTCAAGACTACTGCCACACCAGAATATGAACCAAAAGCTGAAAACAACTAAATGAACTTGCTCATGAGAA... | GTGGTCTTCACTCTCAACATCTTGCTTCACTGCCACAATGAATAGTGAGACACACACTACCATAGAGTGTGTGTATAAAATATATGGCAAATAGCTGAGATGTGGTAGTCACACCTTAAATTGTACCTTAATAATTATTATGCAAATGTAATTGGCACAAAAACAGTATTCTATCAGTCTCAGAAAAAGAAAGAAAACATGAACAAATGAAATCTATAGCAAACCTTAGGAAATCATTTTGGCCAAGAATTTCAAGACTACTGCCACACCAGAATATGAACCAAAAGCTGAAAACAACTAAATGAACTTGCTCATGAGAA... | pathogenic | 112,609 |
Chromosome 6, position 129460249, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CTTCACTGCCACAATGAATAGTGAGACACACACTACCATAGAGTGTGTGTATAAAATATATGGCAAATAGCTGAGATGTGGTAGTCACACCTTAAATTGTACCTTAATAATTATTATGCAAATGTAATTGGCACAAAAACAGTATTCTATCAGTCTCAGAAAAAGAAAGAAAACATGAACAAATGAAATCTATAGCAAACCTTAGGAAATCATTTTGGCCAAGAATTTCAAGACTACTGCCACACCAGAATATGAACCAAAAGCTGAAAACAACTAAATGAACTTGCTCATGAGAATTCAAATGAGCAGGAAAATCTCTC... | CTTCACTGCCACAATGAATAGTGAGACACACACTACCATAGAGTGTGTGTATAAAATATATGGCAAATAGCTGAGATGTGGTAGTCACACCTTAAATTGTACCTTAATAATTATTATGCAAATGTAATTGGCACAAAAACAGTATTCTATCAGTCTCAGAAAAAGAAAGAAAACATGAACAAATGAAATCTATAGCAAACCTTAGGAAATCATTTTGGCCAAGAATTTCAAGACTACTGCCACACCAGAATATGAACCAAAAGCTGAAAACAACTAAATGAACTTGCTCATGAGAATTCAAATGAGCAGGAAAATCTCTC... | pathogenic | 112,610 |
Chromosome 6, position 129464337, gene LAMA2 (laminin subunit alpha 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AAAGTAAACCAACATAGCTGAAGACACCAACCTCAAAGTACTGTGCCACAACACAGCCTGTACACAGTGTGCATTCACCCATATGCCTGCCTTCAGCTTGATTTAGCCAAGCACTCTATCTCGGAAATGTTCGTGGCCCACGTCTTTTCCGTCATTGTGCATTTTTGCCCCATCGCTAACACTTGGCAGTGTCAGCCCTTTCTTATACCCCTTGTCATCAAACTATATTCACATTTTCCTTTTAAGGTGAAGTGATATGTATACTGAAATAATCCTATATTTTTTAATGTTTTAGTGTATCTTTTTGAGCTGTGCTAATA... | AAAGTAAACCAACATAGCTGAAGACACCAACCTCAAAGTACTGTGCCACAACACAGCCTGTACACAGTGTGCATTCACCCATATGCCTGCCTTCAGCTTGATTTAGCCAAGCACTCTATCTCGGAAATGTTCGTGGCCCACGTCTTTTCCGTCATTGTGCATTTTTGCCCCATCGCTAACACTTGGCAGTGTCAGCCCTTTCTTATACCCCTTGTCATCAAACTATATTCACATTTTCCTTTTAAGGTGAAGTGATATGTATACTGAAATAATCCTATATTTTTTAATGTTTTAGTGTATCTTTTTGAGCTGTGCTAATA... | pathogenic | 112,615 |
Classify the chromosome 6 variant at position 129465265 affecting gene LAMA2 (laminin subunit alpha 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ACAAAAGGCAAATTAAGAAGCCTAGCATTTATTAATTATGAAAGAATAGGGGCTTTTTTAGTAAATGCATTCAGAATGAATAGGATAACTCTATTCTATTCTATGTCGAAATATTATAGAGTGTACCTGGAAGGACTCATATTATTTCTCATCCCATAGTCACCAATTCAAAGCCAGACTTACCTTGTTTCTCCTAGTGTTTTCTAATGAATTAAATGAACTGGGGGGATCTACAGCTCTGTGTTTAGCCACTCCCAGTCCACAACTCTTTCCCGCAGGTATCTCCACAATCGCAGTAACATCAGACAGATAGGTAGGTA... | ACAAAAGGCAAATTAAGAAGCCTAGCATTTATTAATTATGAAAGAATAGGGGCTTTTTTAGTAAATGCATTCAGAATGAATAGGATAACTCTATTCTATTCTATGTCGAAATATTATAGAGTGTACCTGGAAGGACTCATATTATTTCTCATCCCATAGTCACCAATTCAAAGCCAGACTTACCTTGTTTCTCCTAGTGTTTTCTAATGAATTAAATGAACTGGGGGGATCTACAGCTCTGTGTTTAGCCACTCCCAGTCCACAACTCTTTCCCGCAGGTATCTCCACAATCGCAGTAACATCAGACAGATAGGTAGGTA... | pathogenic | 112,623 |
Determine if the mutation at chromosome 6, position 129473284 in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AGCATTTACTAGCATTTCCTGGTAGAACCCACTTCATCGCTATCACTCATGAAGGATAGAGTAAAGCACTCCCTTTAAGTCAGTAAAAATATGCCATCCTGTCTCTCTGCCAGTTACCTTTTGGGCCAGTGAATTTCAATTCAATTGTGTTGCTGCTCTTTAATCATGTTTTCTTAGAATGATTTCTAAAAATGCATATATTCATTCATGGATAAGGAGGAAAACCACCTCCAGTCACTGGCTTGCCTGTGATAGAGAGGCAGAATCTCATTTTCAGACACCATTAAAATACCCACCAAGTCTGTAGAAAGAGACTATTT... | AGCATTTACTAGCATTTCCTGGTAGAACCCACTTCATCGCTATCACTCATGAAGGATAGAGTAAAGCACTCCCTTTAAGTCAGTAAAAATATGCCATCCTGTCTCTCTGCCAGTTACCTTTTGGGCCAGTGAATTTCAATTCAATTGTGTTGCTGCTCTTTAATCATGTTTTCTTAGAATGATTTCTAAAAATGCATATATTCATTCATGGATAAGGAGGAAAACCACCTCCAGTCACTGGCTTGCCTGTGATAGAGAGGCAGAATCTCATTTTCAGACACCATTAAAATACCCACCAAGTCTGTAGAAAGAGACTATTT... | pathogenic | 112,628 |
Gene mutation in LAMA2 (laminin subunit alpha 2) at chromosome 6, position 129473289—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TTACTAGCATTTCCTGGTAGAACCCACTTCATCGCTATCACTCATGAAGGATAGAGTAAAGCACTCCCTTTAAGTCAGTAAAAATATGCCATCCTGTCTCTCTGCCAGTTACCTTTTGGGCCAGTGAATTTCAATTCAATTGTGTTGCTGCTCTTTAATCATGTTTTCTTAGAATGATTTCTAAAAATGCATATATTCATTCATGGATAAGGAGGAAAACCACCTCCAGTCACTGGCTTGCCTGTGATAGAGAGGCAGAATCTCATTTTCAGACACCATTAAAATACCCACCAAGTCTGTAGAAAGAGACTATTTTCATC... | TTACTAGCATTTCCTGGTAGAACCCACTTCATCGCTATCACTCATGAAGGATAGAGTAAAGCACTCCCTTTAAGTCAGTAAAAATATGCCATCCTGTCTCTCTGCCAGTTACCTTTTGGGCCAGTGAATTTCAATTCAATTGTGTTGCTGCTCTTTAATCATGTTTTCTTAGAATGATTTCTAAAAATGCATATATTCATTCATGGATAAGGAGGAAAACCACCTCCAGTCACTGGCTTGCCTGTGATAGAGAGGCAGAATCTCATTTTCAGACACCATTAAAATACCCACCAAGTCTGTAGAAAGAGACTATTTTCATC... | pathogenic | 112,629 |
A genetic variant on chromosome 6, position 129478729, affects the gene LAMA2 (laminin subunit alpha 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | TCCATAAAGGAAAATATGGAAGCAAGTGAACACTGTTAATGAAATTCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGAT... | TCCATAAAGGAAAATATGGAAGCAAGTGAACACTGTTAATGAAATTCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGAT... | pathogenic | 112,635 |
A genetic variant at chromosome 6, position 129478761, affecting gene LAMA2 (laminin subunit alpha 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | CTGTTAATGAAATTCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGATAAAAAAAGGAACTTGGCATCATGGGACAATGA... | CTGTTAATGAAATTCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGATAAAAAAAGGAACTTGGCATCATGGGACAATGA... | pathogenic | 112,636 |
Is chromosome 6, position 129478774, gene LAMA2 (laminin subunit alpha 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGATAAAAAAAGGAACTTGGCATCATGGGACAATGAGGAGAGAATTAAT... | TCACCTTCTCTGTGCATTATGCAAGAAAAATATAAGCAGAATTCTCACCCTACAGTTGGGCATGTTCTTTATAACAACCAGCTGACTGACTGAACGAAAAGAAAACCTTGGGAACAAGGAAAAATTATCAATGAAAATAAAGAAGTTCCAGAAAGGAGTGCGGGGGTGGAAACAGACAGACACCTGACATGAAATAAATCACCTGATATACACTGCCAAGGTCTAATTTGTTTTTCCACCTGTTTTTCCTCATGCCATGTGTTTTTCATTAAGATAAAAAAAGGAACTTGGCATCATGGGACAATGAGGAGAGAATTAAT... | pathogenic | 112,637 |
Is the chromosome 6, position 129481318 variant in LAMA2 (laminin subunit alpha 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Merosin_deficient_congenital_muscular_dystrophy'] | TGAAGTCTAGCCCCCTTGTCTTTGAAATAACATAGACTGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGT... | TGAAGTCTAGCCCCCTTGTCTTTGAAATAACATAGACTGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGT... | pathogenic | 112,640 |
Determine if the mutation at chromosome 6, position 129481347 in gene LAMA2 (laminin subunit alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ACATAGACTGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCAT... | ACATAGACTGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCAT... | pathogenic | 112,641 |
Clinical classification of chromosome 6, position 129481355, gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATAC... | TGGGACCTGTGGCAATCAACTCTGCAAAGACTTGTGTTTGACATGCCTGCAAAGTCCTTTGTTAGCTGATATCCTCAGTAACTCTTCTTTGATGCTAAAGCATCCTAGCATTCCCCTATTTTCGTTTAACTATTTTGCACTGTTTCTTCAGTTGACACTGACCCATATGTGAGAAAGACCCCGGCCATAGCTCTACTCTCTTAAAATATCCATAAGCAAGAGTCAATAGTCAACAGCAAATATTAGCAAGAATTTTATAGAAACTCAATAGTGATCAGCTTGTTTTTAAAATGAAAACGTTAAATATGTCATTCTCATAC... | pathogenic | 112,642 |
A genetic variant on chromosome 6, position 129486592, affects the gene LAMA2 (laminin subunit alpha 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GAGAGGCAAACTGTGGCACTTTTGCATAATGGGATATCAAGGAATAAGAAAAAGGAATAAATTATAACTAAATATAACAACATAATAAATAGAAAATAAATAAAAATGAAAAATGTGCTATATGGTACCATTTTTGTAGATTTCTCATACAAGTAGCACTAAACAACATATTGTTTACAGACACATGTGAATTTCAAAAATATTTTTTAAAAGTAAGGTAATGATAAACATAAAATCCACATTTGTGGTTACCTCTGAGATGGAGAAGCAAGGAGATGGTATTAGAAAGAAACTCATAAGAGATGCAATGGTATTGTTTC... | GAGAGGCAAACTGTGGCACTTTTGCATAATGGGATATCAAGGAATAAGAAAAAGGAATAAATTATAACTAAATATAACAACATAATAAATAGAAAATAAATAAAAATGAAAAATGTGCTATATGGTACCATTTTTGTAGATTTCTCATACAAGTAGCACTAAACAACATATTGTTTACAGACACATGTGAATTTCAAAAATATTTTTTAAAAGTAAGGTAATGATAAACATAAAATCCACATTTGTGGTTACCTCTGAGATGGAGAAGCAAGGAGATGGTATTAGAAAGAAACTCATAAGAGATGCAATGGTATTGTTTC... | pathogenic | 112,652 |
A genetic variant at chromosome 6, position 129491988, affecting gene LAMA2 (laminin subunit alpha 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | AATAAAGCTGACCTATTACAATACTAAAGTAATACAAAGTTTAATGTACCTTTTTGCACATAGCAGGCCTCAGTAAAAAGCTGTTAAATAAATACTTTTTAAAAATGGAAAACACACCAGAATCATAATGGACATATTGGCAATGTCCTTCTCAATAAAAACTAAAGAAATGATCTAGATTTGATGTTCCTAAAAGGTAAAATAGGAGCAGGATTTAGCTGTAGTTTTCTAGCAATGCCCTTTTTAAGTAATACAGCCTCAGGGCAATCCCTTAATTAATATTTTCCGCTGTTTGAAGTAGGTATTTTTATCTCCATCTT... | AATAAAGCTGACCTATTACAATACTAAAGTAATACAAAGTTTAATGTACCTTTTTGCACATAGCAGGCCTCAGTAAAAAGCTGTTAAATAAATACTTTTTAAAAATGGAAAACACACCAGAATCATAATGGACATATTGGCAATGTCCTTCTCAATAAAAACTAAAGAAATGATCTAGATTTGATGTTCCTAAAAGGTAAAATAGGAGCAGGATTTAGCTGTAGTTTTCTAGCAATGCCCTTTTTAAGTAATACAGCCTCAGGGCAATCCCTTAATTAATATTTTCCGCTGTTTGAAGTAGGTATTTTTATCTCCATCTT... | pathogenic | 112,658 |
Is the genetic mutation found on chromosome 6 at position 129492333, within the gene LAMA2 (laminin subunit alpha 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ATGATTAAATAACTTGCCCAAGGTCACACAGCTAGTAAGCTTCCACACTAGTACTTAATTCCAGTATGTTCCTCCTGAAAGCCCACACTCATTCTCCATCACCACCCTGTGAATTGGTTTAAAAAAAATAAGGGTCACTATGATGGTCCTTGTGGCAGAACCACACTACAGAGAGAGGCTACACCAGAAAGAGGAAGGCCTCTAGCTTTTTAAAATTCTAATCAAGAACAGAGATTTACTCTCCTTGGACAATCTTTAACAGAGGCTTATATCCTTCATTAAAACCTTAGAAGCCCTGTGATATCATGTTGCTAAGAAGA... | ATGATTAAATAACTTGCCCAAGGTCACACAGCTAGTAAGCTTCCACACTAGTACTTAATTCCAGTATGTTCCTCCTGAAAGCCCACACTCATTCTCCATCACCACCCTGTGAATTGGTTTAAAAAAAATAAGGGTCACTATGATGGTCCTTGTGGCAGAACCACACTACAGAGAGAGGCTACACCAGAAAGAGGAAGGCCTCTAGCTTTTTAAAATTCTAATCAAGAACAGAGATTTACTCTCCTTGGACAATCTTTAACAGAGGCTTATATCCTTCATTAAAACCTTAGAAGCCCTGTGATATCATGTTGCTAAGAAGA... | pathogenic | 112,663 |
Evaluate the clinical significance of the mutation at chromosome 6, position 129492483 in gene LAMA2 (laminin subunit alpha 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | TGTGGCAGAACCACACTACAGAGAGAGGCTACACCAGAAAGAGGAAGGCCTCTAGCTTTTTAAAATTCTAATCAAGAACAGAGATTTACTCTCCTTGGACAATCTTTAACAGAGGCTTATATCCTTCATTAAAACCTTAGAAGCCCTGTGATATCATGTTGCTAAGAAGAGGCTGCTTTCAGCTAAAGGGGAAAAAGAGTGTAGGGGAGGGGCTTCTCAGTGAGTCACACATACCCGGAAGTGAGTGGTTTTCTGAAATTCTCGTCTCAGGAAACCACCGACACTCTTAGCAAGGAAGCTGAACCTCCTGGGTTTTGCCA... | TGTGGCAGAACCACACTACAGAGAGAGGCTACACCAGAAAGAGGAAGGCCTCTAGCTTTTTAAAATTCTAATCAAGAACAGAGATTTACTCTCCTTGGACAATCTTTAACAGAGGCTTATATCCTTCATTAAAACCTTAGAAGCCCTGTGATATCATGTTGCTAAGAAGAGGCTGCTTTCAGCTAAAGGGGAAAAAGAGTGTAGGGGAGGGGCTTCTCAGTGAGTCACACATACCCGGAAGTGAGTGGTTTTCTGAAATTCTCGTCTCAGGAAACCACCGACACTCTTAGCAAGGAAGCTGAACCTCCTGGGTTTTGCCA... | pathogenic | 112,666 |
The mutation in gene LAMA2 at chromosome 6, position 129502669—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | AAAGGTTTTTTTCTAAAATGGCTTGACCAGTGCCTTGTCCATCTAGAAAATCTCATAGTATACAACGAAACAACAACAAAATAAAAACAAACCAAAAAACTGCTGCTTAGCTCAGGACCAGTTTTGGATACACCTGTCCAGTCTACCAGCAATCCAAAAGTTCCCCATAACATACAGCTGCTACCGGGAGTGTACAACTGCCACCTTGAAAATTTTTTAAATTTTAATAGAGAAGTTATATTGACATTTACATATAGTAATTAGACGAGTGACTGTAACCGCAATAATATGGACATAACCCACTGGTGGTTCTCTTTTAA... | AAAGGTTTTTTTCTAAAATGGCTTGACCAGTGCCTTGTCCATCTAGAAAATCTCATAGTATACAACGAAACAACAACAAAATAAAAACAAACCAAAAAACTGCTGCTTAGCTCAGGACCAGTTTTGGATACACCTGTCCAGTCTACCAGCAATCCAAAAGTTCCCCATAACATACAGCTGCTACCGGGAGTGTACAACTGCCACCTTGAAAATTTTTTAAATTTTAATAGAGAAGTTATATTGACATTTACATATAGTAATTAGACGAGTGACTGTAACCGCAATAATATGGACATAACCCACTGGTGGTTCTCTTTTAA... | pathogenic | 112,670 |
Is the variant located on chromosome 6 at position 129505264, gene LAMA2 (laminin subunit alpha 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | ACTTGGGGAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCC... | ACTTGGGGAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCC... | pathogenic | 112,676 |
Regarding the variant found on chromosome 6 at position 129505271 in gene LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACT... | GAGTGGGGACACCCACACCATGATCCCCACCAAAATCAATGATGGCCAGTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACT... | pathogenic | 112,677 |
Considering the genetic mutation at chromosome 6, position 129505319, impacting LAMA2 (laminin subunit alpha 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['LAMA2-related_muscular_dystrophy'] | GTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACTGAGGCCAGGTGGCTGAAGACATTTCCACTGCTCTAAGTGAGAAACGTA... | GTGGCACAAGGTAATAGTCCCCTGGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACTGAGGCCAGGTGGCTGAAGACATTTCCACTGCTCTAAGTGAGAAACGTA... | pathogenic | 112,679 |
Variant on chromosome 6, at position 129505342, affecting LAMA2 (laminin subunit alpha 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy', 'Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23'] | GGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACTGAGGCCAGGTGGCTGAAGACATTTCCACTGCTCTAAGTGAGAAACGTAGAACAGAGTGTGTTCACCATCAA... | GGATATTGGCAGTACCCTAAGGGAATTACTGAGTGGCAGCCATCAGCATTCTCCTGGTGCCAGTATATTTTGCCAGGGCAGACACTGACTCTGGCAGAAGCTAAAAATAAAATAAGTGCCATATACAACTACCACAATCTTGGAAAATGTGCTCAGACCTGTGTAGGTTTGCATTTGACCACTGGCATGCCTCATCATGGTTCCATCACTGCTATATGGCTGTGGTTTTCAAACATCTACCCATAAACTGAGGCCAGGTGGCTGAAGACATTTCCACTGCTCTAAGTGAGAAACGTAGAACAGAGTGTGTTCACCATCAA... | pathogenic | 112,682 |
Variant in gene LAMA2 (laminin subunit alpha 2), located at chromosome 6 position 129507532: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | GGGACAGAAGGGTTTGTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTCCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGCCTACCACCACGCCTGGCTAATTTTTTGTACTTTTAATAGAGACGGGGTGTACTTTTAATAGAGACGGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGA... | GGGACAGAAGGGTTTGTTGTTTATTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTCCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGCCTACCACCACGCCTGGCTAATTTTTTGTACTTTTAATAGAGACGGGGTGTACTTTTAATAGAGACGGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGA... | pathogenic | 112,685 |
Classify the chromosome 6 variant at position 129514482 affecting gene LAMA2 (laminin subunit alpha 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['LAMA2-related_muscular_dystrophy', 'Merosin_deficient_congenital_muscular_dystrophy'] | CTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGGTGAGTGTCAGCAATGCAAACATTTCTGATTTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGA... | CTTCTGGGGATCAGTAGTCAAAAAATGGATGGAATGGGTATTGAAATGATTGATGAAAAGGTGAGTGTCAGCAATGCAAACATTTCTGATTTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGA... | pathogenic | 112,696 |
Is the genetic variant on chromosome 6, position 129514523, gene LAMA2 (laminin subunit alpha 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TGAAATGATTGATGAAAAGGTGAGTGTCAGCAATGCAAACATTTCTGATTTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTAT... | TGAAATGATTGATGAAAAGGTGAGTGTCAGCAATGCAAACATTTCTGATTTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTAT... | pathogenic | 112,698 |
Does the variant impacting LAMA2 (laminin subunit alpha 2) on chromosome 6, position 129514572, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | TTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTATTCTCCTCTTAAGGAACACACAGTCTATGAGACTATGGACTCCAGTGGGA... | TTCTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTATTCTCCTCTTAAGGAACACACAGTCTATGAGACTATGGACTCCAGTGGGA... | pathogenic | 112,699 |
Variant in gene LAMA2 (laminin subunit alpha 2), located at chromosome 6 position 129514574: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['LAMA2-related_muscular_dystrophy'] | CTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTATTCTCCTCTTAAGGAACACACAGTCTATGAGACTATGGACTCCAGTGGGAGA... | CTTCATGATATTGTTGATGTGTAGATATCATCCATGTGTGGGAAACTCGAATATTTTGAAGCCCGGCTGTATTCTTTGTTGGGAGAAAGCTAAATTGTATGTTTTCATCCTTCTGGATTACTTCAATTTGTGTATGTTTTCAGCATGTTGTAGGCCAGTATAAATTTTAAATGCATTAATTGTACAGCAAGCCAATCGTGTTGACTAATAATGAACCAAATAGTTTGAGATCTCGAGTTCTTACTGTGTTGCTATAAACACACTCTTATTCTCCTCTTAAGGAACACACAGTCTATGAGACTATGGACTCCAGTGGGAGA... | pathogenic | 112,700 |
Considering the genetic mutation at chromosome 6, position 129516535, impacting LAMA2 (laminin subunit alpha 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CACCGCATTGAGCTCACAGTCGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGGTGAGTGTTGGCTACCCCAGCAACAATTTCTTTGCTCTCTTATGTTACTGGTTTTGAAAACATTTATATTTACGTGTGTCTAAGAATGTGTGCTTATGTGTACTTGCTTCCTAGCTTTAGAATCTGCTTAGAATCTGCACCTTACCTAAAATTTCCAGTGTGTAAAATGAACATATTACTTATATAAACCACATGGGACTGAACTTTTCAT... | CACCGCATTGAGCTCACAGTCGATGGGAACCAGGTGGAAGCCCAAAGCCCAAACCCAGCATCTACATCAGCTGACACAAATGACCCTGTGTTTGTTGGAGGCTTCCCAGGTGAGTGTTGGCTACCCCAGCAACAATTTCTTTGCTCTCTTATGTTACTGGTTTTGAAAACATTTATATTTACGTGTGTCTAAGAATGTGTGCTTATGTGTACTTGCTTCCTAGCTTTAGAATCTGCTTAGAATCTGCACCTTACCTAAAATTTCCAGTGTGTAAAATGAACATATTACTTATATAAACCACATGGGACTGAACTTTTCAT... | benign | 112,709 |
A genetic alteration at chromosome 6, position 131576697, in gene ARG1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arginase_deficiency'] | GGCCAACATATAAGTATTTGTCCTCACCTAAAGGAGGTACAAGTTTGACAAATAAGCAAAAGGAAAGGATTAGAGGGCAGATGACTAAAATGTTGAGTCTGAGAAAGGGCTTCATCCCTGTCTCACCTCCTTGAAAGGCTTGCAAGGCAGCGAACAAACAATAAGGTAGGTATTATTTTTACCTTACAGTTGGGTTAAAAAAAAGCCCAGAGAGGTTTGGTAATGTGCTCAACGTCACACAGCCTTGACTGCATAATTCCAGACAAGATAATCTGATTCCAATGCCTATGCCCTTGATTTGCACTGATGTCTCTTCAGAC... | GGCCAACATATAAGTATTTGTCCTCACCTAAAGGAGGTACAAGTTTGACAAATAAGCAAAAGGAAAGGATTAGAGGGCAGATGACTAAAATGTTGAGTCTGAGAAAGGGCTTCATCCCTGTCTCACCTCCTTGAAAGGCTTGCAAGGCAGCGAACAAACAATAAGGTAGGTATTATTTTTACCTTACAGTTGGGTTAAAAAAAAGCCCAGAGAGGTTTGGTAATGTGCTCAACGTCACACAGCCTTGACTGCATAATTCCAGACAAGATAATCTGATTCCAATGCCTATGCCCTTGATTTGCACTGATGTCTCTTCAGAC... | pathogenic | 112,719 |
Variant at chromosome position 131576732, chromosome 6, gene ARG1: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['ARG1-related_disorder', 'Arginase_deficiency'] | GGTACAAGTTTGACAAATAAGCAAAAGGAAAGGATTAGAGGGCAGATGACTAAAATGTTGAGTCTGAGAAAGGGCTTCATCCCTGTCTCACCTCCTTGAAAGGCTTGCAAGGCAGCGAACAAACAATAAGGTAGGTATTATTTTTACCTTACAGTTGGGTTAAAAAAAAGCCCAGAGAGGTTTGGTAATGTGCTCAACGTCACACAGCCTTGACTGCATAATTCCAGACAAGATAATCTGATTCCAATGCCTATGCCCTTGATTTGCACTGATGTCTCTTCAGACTATTCAACTCCAAAGGCGACCTTATACTTGTGGCC... | GGTACAAGTTTGACAAATAAGCAAAAGGAAAGGATTAGAGGGCAGATGACTAAAATGTTGAGTCTGAGAAAGGGCTTCATCCCTGTCTCACCTCCTTGAAAGGCTTGCAAGGCAGCGAACAAACAATAAGGTAGGTATTATTTTTACCTTACAGTTGGGTTAAAAAAAAGCCCAGAGAGGTTTGGTAATGTGCTCAACGTCACACAGCCTTGACTGCATAATTCCAGACAAGATAATCTGATTCCAATGCCTATGCCCTTGATTTGCACTGATGTCTCTTCAGACTATTCAACTCCAAAGGCGACCTTATACTTGTGGCC... | pathogenic | 112,721 |
Does the chromosome 6 mutation at position 131579250 within gene ARG1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arginase_deficiency'] | ATTTTTAAAGTATGGGCTCAATTTTCTGTTACCTTTACATATAAGATTCTGATAAAGTGTTGGTCAGGATGTGGAGAAACTGGAACCCTCATATATTTCTGATGGGAATGCAAATGATACAGCCACTTTGAAAGTAGGTGGGCAGTTTCTCAGGTAAACATATATTTACATTTTGACCCAGCAGTTCTACTCCTGGGTGCAGAGAAGTACAACTACAAACATTCAAGTACAAGTCTTTGTGTGGATATGTTTTCATTTCTCTTGGGTAAGAGATTTGTGCTTGAATGTTTGGGGGCAGCCATATTTATAATAACCAAAAA... | ATTTTTAAAGTATGGGCTCAATTTTCTGTTACCTTTACATATAAGATTCTGATAAAGTGTTGGTCAGGATGTGGAGAAACTGGAACCCTCATATATTTCTGATGGGAATGCAAATGATACAGCCACTTTGAAAGTAGGTGGGCAGTTTCTCAGGTAAACATATATTTACATTTTGACCCAGCAGTTCTACTCCTGGGTGCAGAGAAGTACAACTACAAACATTCAAGTACAAGTCTTTGTGTGGATATGTTTTCATTTCTCTTGGGTAAGAGATTTGTGCTTGAATGTTTGGGGGCAGCCATATTTATAATAACCAAAAA... | pathogenic | 112,723 |
The genetic variant at chromosome 6, position 131581253, affecting gene ARG1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arginase_deficiency'] | AGCAAGCGAGCAGCTGGCTGGCAAGGTGGCAGAAGTCAAGAAGAACGGAAGAATCAGCCTGGTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAA... | AGCAAGCGAGCAGCTGGCTGGCAAGGTGGCAGAAGTCAAGAAGAACGGAAGAATCAGCCTGGTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAA... | pathogenic | 112,728 |
Benign or pathogenic: chromosome 6, position 131581284, gene ARG1 variant? Disease(s) if pathogenic? | pathogenic; ['Arginase_deficiency'] | GAAGTCAAGAAGAACGGAAGAATCAGCCTGGTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTT... | GAAGTCAAGAAGAACGGAAGAATCAGCCTGGTGCTGGGCGGAGACCACAGGTCTTGTTGAATAACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTT... | pathogenic | 112,731 |
Is the genetic change at chromosome 6, position 131581346, within gene ARG1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arginase_deficiency'] | AACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTCATAGCTTATTTGTTCTTAATTGCCGATAATAT... | AACTGTGTCTATGGGAATCTGGCACAAAGGAAGTAACCAAGGCCATAAGAAGAGAGAAAATTTAGAAATATAGACAGAAAAGCATTGACCTATATTTTATATCAAATTTTCTGCCTTTAAAAAAATTTTATAGGTTACTTTTATTATAGAAACAGACTTCGCTCAATTTGAAGTCTTACAATATCTGTATTTTGACCTAGTACAGCAGAAAATGTATGAAATATGAATGGATTTCATCTAAATATTCATCACAAGCTTACATTTCTAAATAAGTATGTGAGGCAATTCATAGCTTATTTGTTCTTAATTGCCGATAATAT... | pathogenic | 112,735 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 131583047, gene ARG1: what disease(s) if pathogenic? | benign | TAGTAATGCAATCGATGTAAATATAACTAGTTAGTGAGCATTAAGTGTAAGTTATGCTTTCTCTATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACC... | TAGTAATGCAATCGATGTAAATATAACTAGTTAGTGAGCATTAAGTGTAAGTTATGCTTTCTCTATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACC... | benign | 112,746 |
Variant on chromosome 6, at position 131583101, affecting ARG1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Arginase_deficiency'] | TGCTTTCTCTATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAA... | TGCTTTCTCTATTGTTTTAACTAATTGGCATCTCCAATTCAGAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAA... | pathogenic | 112,748 |
Does the variant on chromosome 6 at location 131583142 affecting gene ARG1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Arginase_deficiency'] | GAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAAT... | GAACCTATCAGAAATATCAGACACTGTGACTCAAAGGAAAACCAAGTGGGAGCATTGAGTGAATAATATGATGTATGTAGTGACACTGCAAACCTGATGTTCACACAAAATTTTTTCCCCAAAAGTTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAAT... | pathogenic | 112,750 |
The mutation in gene ARG1 at chromosome 6, position 131583372—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arginase_deficiency'] | TGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAAC... | TGGAAACTTGCATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAAC... | pathogenic | 112,753 |
Mutation at chromosome 6, position 131583395, within ARG1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arginase_deficiency'] | TATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAGGTT... | TATCTTTCCTCCTGAAGGAACTAAAAGGAAAGGTAAAAGACTGGTTGGTACTCTAGTGCAATAGAATACTTTTTAGTAGACATTCAGGAGGTGGAAGGGAAATGAGAAACTCCATGTTATCTTATTCTTGGTGTAATCTCAAATCATTTTCTCTGCAGCCAATAAGCAAAGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAGGTT... | pathogenic | 112,756 |
Is the genetic variant on chromosome 6, position 131583564, gene ARG1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAGGTTAACCAACTTGCCCAAGATATATGCCAAGCCTATAGTGAAGCAAGGGCTAGCACCAGGTCTCCTCATTCCTTCCTCTTTCCACTACATGCCACACAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATA... | AGGGTTGGTTGATAAAAGGCAGTGAGGCTCTCTATCTCTGCCTTGCAAACTGACTTAATATATATTTTCTCTGCTAATTCTTAAACTATCCTTTTAGTAGGTGGGGCAGAGAGTAATCATTTATAAACAGGTCAGTGGAGGTTCAGAGGTTAACCAACTTGCCCAAGATATATGCCAAGCCTATAGTGAAGCAAGGGCTAGCACCAGGTCTCCTCATTCCTTCCTCTTTCCACTACATGCCACACAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATA... | benign | 112,758 |
Benign or pathogenic: chromosome 6, position 131583752, gene ARG1 variant? Disease(s) if pathogenic? | pathogenic; ['Arginase_deficiency'] | AAGCAAGGGCTAGCACCAGGTCTCCTCATTCCTTCCTCTTTCCACTACATGCCACACAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATAT... | AAGCAAGGGCTAGCACCAGGTCTCCTCATTCCTTCCTCTTTCCACTACATGCCACACAGTTCTGCATTCTTACTGAGTAGTCCTTCTATATCATAGAGGCTTTTCAAAAAAGAAATTTTAAAATTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATAT... | pathogenic | 112,760 |
Is chromosome 6, position 131583875, gene ARG1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arginase_deficiency'] | TTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATATCAATAAAAAGTTTTTATTGATACAATTATAATATTTGGTCCTTATGATGATACAAGAGGTTAAAACCTCCTTATGTTAAATGCTCAGAAATAATGTCTTTTGAACTAATGACCAAGGGATGGG... | TTTCAGATATAATGGTTTATGAACTAATGTATTTACTGGGAGAAGCACCTATCTAAATCATAAGAGAAAGAACTATCTCCCTGCTCCCTAGAAACTCCTTTTCTAAAAGATGGAAAATAAAATGGCAGATTAAGATTTAATATTACAGCTTATAACTTTGTTGATATGCCATAGTTTGTTGATATGCCATAGTATATCAATAAAAAGTTTTTATTGATACAATTATAATATTTGGTCCTTATGATGATACAAGAGGTTAAAACCTCCTTATGTTAAATGCTCAGAAATAATGTCTTTTGAACTAATGACCAAGGGATGGG... | pathogenic | 112,765 |
Variant at chromosome position 131627676, chromosome 6, gene MED23 (mediator complex subunit 23): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TACCTATTTTCTTCCTGGTCTCTCCATTAGAGGGCCACATCATAATTCATAAAGTGTTTAATGAATTTTTTTTTAAATTTTGGAAAGATATTCAACATCACTGAGAGAAATGCAAAATAAAATTATACTGAGATAAAATTTCTCATGTTTTTGATTGGCAAAGATCAAAAAGCTTAACACTCTATTGTGAGGTTATAAGAAAAAGATACTCTCAGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCGGGAGATCGAGACCAACCTGGCTAACACGATGAAACC... | TACCTATTTTCTTCCTGGTCTCTCCATTAGAGGGCCACATCATAATTCATAAAGTGTTTAATGAATTTTTTTTTAAATTTTGGAAAGATATTCAACATCACTGAGAGAAATGCAAAATAAAATTATACTGAGATAAAATTTCTCATGTTTTTGATTGGCAAAGATCAAAAAGCTTAACACTCTATTGTGAGGTTATAAGAAAAAGATACTCTCAGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCGGGAGATCGAGACCAACCTGGCTAACACGATGAAACC... | benign | 112,778 |
Does the genetic variant at chromosome 6, position 131847855, impacting gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTAT... | AGTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTAT... | benign | 112,784 |
Does the chromosome 6 mutation at position 131847856 within gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | benign | 112,785 |
Regarding the variant found on chromosome 6 at position 131847856 in gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | benign | 112,786 |
Determine if the mutation at chromosome 6, position 131847856 in gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | GTTTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATT... | benign | 112,787 |
Clinical classification of chromosome 6, position 131847858, gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATTAC... | TTAGGAGAATCCATTACTATTCTCTTCTGATACCTTGTTCTGCTTATTTGCCCTTGTTGACTTGCTCAAGCTCTTCCTCTGATACCTCCTTATTTTAAGGAATATACACACACACACAAAGAAAAACACATGTTTTTGCATCCTTAAAGAAGGCTAACCTTTTGCTTTCTTTGCAAAAACTCTTCCTTTCTTTTATCCATTTTATTTTGAAGTAAGTAAGACCTGCTGCCTCACTTTCCTTACCATTCACTTCCTCTTAAGTCTTTGCAGTCACTTGACAGTAGGCACCTCGAGAGCAGAGGTCATGTCTGTTTTATTAC... | benign | 112,789 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 131872108, gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): what disease(s) if pathogenic? | benign | TTTTATGTTGAAGTGTGTGTTTTACTTGTGTGTCAGGATAAAGATTATACTAGAAAAAATGTTTAAGAGAGAAATCCAACTACATTTATTCAAGTTTAATTAATTAATGACACTCCATTAAAATTACTTAGTTTGGGATTAATATTCTGTTGTGAGGAGGAGTGCTGGCAGAAATGATTAATTCTATAGGCAATTGATTCCTGTCCTCCCTTAAACCATTTCAGAAACAATAAAGAATGTATCTTTTACATAGGGAAGAATGAATTTCACATCTCTTGACCACATGTGGAACATAAACTGCCAAAAGATGTTTTAAAATA... | TTTTATGTTGAAGTGTGTGTTTTACTTGTGTGTCAGGATAAAGATTATACTAGAAAAAATGTTTAAGAGAGAAATCCAACTACATTTATTCAAGTTTAATTAATTAATGACACTCCATTAAAATTACTTAGTTTGGGATTAATATTCTGTTGTGAGGAGGAGTGCTGGCAGAAATGATTAATTCTATAGGCAATTGATTCCTGTCCTCCCTTAAACCATTTCAGAAACAATAAAGAATGTATCTTTTACATAGGGAAGAATGAATTTCACATCTCTTGACCACATGTGGAACATAAACTGCCAAAAGATGTTTTAAAATA... | benign | 112,810 |
Clinical classification of chromosome 6, position 131882330, gene ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GGCTGTGCGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTC... | GGCTGTGCGCAGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCATCTCTACTAAAAATATAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGTGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGTACTCTAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAATTC... | benign | 112,818 |
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