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 |
|---|---|---|---|---|---|
Considering the genetic mutation at chromosome 2, position 178653468, impacting TTN (titin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'CAP-congenital_myopathy_with_arthrogryposis_multiplex_congenita_without_heart_involvement', 'TTN-related_myopathy'] | CGCCCCCATCAAACAGTGGACAGCCACATATACCTTTAGCAGGTGGGGCTTCTGGCTTTTTGGGAACCACCAGAGGCACCTTCTTTTCAGGAACAACCTCCTTGGGCACCTCGGGCACTATAAAAGATATTAGTAGTTGTTTAAGCTCATGGTTTCAATGAAATGTGAAAATCATGAAGCAGAACAGTAGAATATGACACTTCAAAGAAAGTTTTTTGTTAGGGAGTTAGTGGCAGTGAGGAATACCTTTCACTGGTGGTAGTTCAGGTTTTTTGGCAACGACAGCAGGTGCTTTCTTTTCTGGGACAGGTTTCTTAGGT... | CGCCCCCATCAAACAGTGGACAGCCACATATACCTTTAGCAGGTGGGGCTTCTGGCTTTTTGGGAACCACCAGAGGCACCTTCTTTTCAGGAACAACCTCCTTGGGCACCTCGGGCACTATAAAAGATATTAGTAGTTGTTTAAGCTCATGGTTTCAATGAAATGTGAAAATCATGAAGCAGAACAGTAGAATATGACACTTCAAAGAAAGTTTTTTGTTAGGGAGTTAGTGGCAGTGAGGAATACCTTTCACTGGTGGTAGTTCAGGTTTTTTGGCAACGACAGCAGGTGCTTTCTTTTCTGGGACAGGTTTCTTAGGT... | pathogenic | 50,586 |
A genetic variant at chromosome 2, position 178667470, affecting gene TTN (titin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Early-onset_myopathy_with_fatal_cardiomyopathy', 'TTN-related_myopathy'] | TTTTCATTTCAGGGACAACTTCTTTCATAGCTTCTGGTGCTTTGAAGATATTAGTATTATGGTTAGAGGTTAAAAGGATCAGTGGAGACATTAATTAAATGAGCTGAACCAAAGTGATATTTATGGCTAAAAAGATGATTCCTTTAAAGAATCTGAGGAGGTATACAATCTTGAGGAGAGGAACCACATATTAATTGTCTTTGTTTATTATTCTCCAGTTCCCTAGCACCCTGTACATGCTAAGCACTCTAATAAATGAAGGAAGGAATGGCAGGATGAACGATACCTTTAGTGGGAGGTATTTCAATTTCAAGGGGAGC... | TTTTCATTTCAGGGACAACTTCTTTCATAGCTTCTGGTGCTTTGAAGATATTAGTATTATGGTTAGAGGTTAAAAGGATCAGTGGAGACATTAATTAAATGAGCTGAACCAAAGTGATATTTATGGCTAAAAAGATGATTCCTTTAAAGAATCTGAGGAGGTATACAATCTTGAGGAGAGGAACCACATATTAATTGTCTTTGTTTATTATTCTCCAGTTCCCTAGCACCCTGTACATGCTAAGCACTCTAATAAATGAAGGAAGGAATGGCAGGATGAACGATACCTTTAGTGGGAGGTATTTCAATTTCAAGGGGAGC... | pathogenic | 50,665 |
Evaluate this variant at chromosome 2, position 178669632, gene TTN (titin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TAAAAGGGGCCAAAAAATAATTTTTCTTCAGAGTGGATCATTGGTGTTATATACCTTTTGCTAGTTTGGGTTTTGTCTTTTGAGGTTGAGTCACAAGTACTTTTTCTTCTAGGACTGCTTCTTCAGATGCTTCATAAACTTTAAAGATATTAGTATTTAAATAATTAGGATGTTTCAAGGTGGATAAAGAAGTGTATTAAGAAAAATATAATATATAATACCACATTCATCACCAAAATTAATAGTAGCACATAGAGGCAAATTAGTGGCTAGAATGCATTGGCTGGGGATAGCCTCACTCCCAGTTTCATGATGTAAGA... | TAAAAGGGGCCAAAAAATAATTTTTCTTCAGAGTGGATCATTGGTGTTATATACCTTTTGCTAGTTTGGGTTTTGTCTTTTGAGGTTGAGTCACAAGTACTTTTTCTTCTAGGACTGCTTCTTCAGATGCTTCATAAACTTTAAAGATATTAGTATTTAAATAATTAGGATGTTTCAAGGTGGATAAAGAAGTGTATTAAGAAAAATATAATATATAATACCACATTCATCACCAAAATTAATAGTAGCACATAGAGGCAAATTAGTGGCTAGAATGCATTGGCTGGGGATAGCCTCACTCCCAGTTTCATGATGTAAGA... | pathogenic | 50,670 |
Variant chromosome 2, position 178671132, gene TTN (titin): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Myopathy'] | CAAAGCAAAAGACACTTGTATACAGAATAGGTTAGGAAAATTTAACAAGACAACTGACTTTTCTGAAATCATACACTCTGATAAGTAGAGTATTTCTTTTTTAAATTGGTGAGGAAATATAACTTGTCTGAGGATAATAGACACTAAGATTATTTGAGTCATATATTTGTGGCATGTTAGGCTTTTATAAGAGTTTAGTATATTTACTTTTCAAAGCTAAAAAGACAAACATAGTGAATTTAAGGACATAAATGAAACGAAAAAGAACCACTAATTTTTCTACACTCACTGTACATCTCTGTGTCTTCAGAAATAACAAT... | CAAAGCAAAAGACACTTGTATACAGAATAGGTTAGGAAAATTTAACAAGACAACTGACTTTTCTGAAATCATACACTCTGATAAGTAGAGTATTTCTTTTTTAAATTGGTGAGGAAATATAACTTGTCTGAGGATAATAGACACTAAGATTATTTGAGTCATATATTTGTGGCATGTTAGGCTTTTATAAGAGTTTAGTATATTTACTTTTCAAAGCTAAAAAGACAAACATAGTGAATTTAAGGACATAAATGAAACGAAAAAGAACCACTAATTTTTCTACACTCACTGTACATCTCTGTGTCTTCAGAAATAACAAT... | pathogenic | 50,671 |
Variant on chromosome 2, at position 178672043, affecting TTN (titin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Tibial_muscular_dystrophy'] | TATTTAGTTATTAAATAAGAGGATCAATACAAATGATAACTTTGGGCTTATGTCTTTACGCCTAAAACATTGCCTCAAAAGGCAGGATTATGTTATAGAACATAAATTGAAGTTTATGTCATTCATAGCCATCTTGTGGCATTGAGAAGAGAAAGGTCTCTCTTACATAGTAAGTGAATAAAAAAGGATTTTATATTAATGATGAATGAGAAAAGCCAGTTACCTTTAGTTGGTGGAACTCTGGGCTCTTCAGGAACACGTACTTTTTCTTCTACCACAATTTTCTTAGGCACCTCCGGTACTTTAAAGATAATAGTAAT... | TATTTAGTTATTAAATAAGAGGATCAATACAAATGATAACTTTGGGCTTATGTCTTTACGCCTAAAACATTGCCTCAAAAGGCAGGATTATGTTATAGAACATAAATTGAAGTTTATGTCATTCATAGCCATCTTGTGGCATTGAGAAGAGAAAGGTCTCTCTTACATAGTAAGTGAATAAAAAAGGATTTTATATTAATGATGAATGAGAAAAGCCAGTTACCTTTAGTTGGTGGAACTCTGGGCTCTTCAGGAACACGTACTTTTTCTTCTACCACAATTTTCTTAGGCACCTCCGGTACTTTAAAGATAATAGTAAT... | pathogenic | 50,674 |
The genetic variant at chromosome 2, position 178672623, affecting gene TTN (titin): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTTGCTACCTTCTCTTCAGTGATAACTTACGCACATGCTTCAGAGACTTTAAAGAAATAAGTTTATATTATTTATTAGATACTGTTTTTATTTCTATTGTGAAATTTAAGAGATTTGCAAAAATGAACAAAGCAAGAACATTAAACACATATTCACTATGTATTTATATTTGCCAGGTTAATATAATTAATAATAAATAGAAAAACATGTGTTTATCAGTAAGCATGTTAGTGAATATATAACCAAATAGCACCAAAGGAGGAAATTTGGGCTCACTATTTGGTTACTAGAGATATTTGCTTTGGTTGTTTTAGGTATAA... | GTTGCTACCTTCTCTTCAGTGATAACTTACGCACATGCTTCAGAGACTTTAAAGAAATAAGTTTATATTATTTATTAGATACTGTTTTTATTTCTATTGTGAAATTTAAGAGATTTGCAAAAATGAACAAAGCAAGAACATTAAACACATATTCACTATGTATTTATATTTGCCAGGTTAATATAATTAATAATAAATAGAAAAACATGTGTTTATCAGTAAGCATGTTAGTGAATATATAACCAAATAGCACCAAAGGAGGAAATTTGGGCTCACTATTTGGTTACTAGAGATATTTGCTTTGGTTGTTTTAGGTATAA... | benign | 50,681 |
Variant in TTN (titin), chromosome 2, position 178672721—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GTGAAATTTAAGAGATTTGCAAAAATGAACAAAGCAAGAACATTAAACACATATTCACTATGTATTTATATTTGCCAGGTTAATATAATTAATAATAAATAGAAAAACATGTGTTTATCAGTAAGCATGTTAGTGAATATATAACCAAATAGCACCAAAGGAGGAAATTTGGGCTCACTATTTGGTTACTAGAGATATTTGCTTTGGTTGTTTTAGGTATAACAACAGTGACTGTCTTTTTTTGGTAGAACTTCCCTTGGACCCTCAGCTGCTTTAAAGATATTAGTTTGTTTTAGACATGTCAGAAACAAGAAATACAG... | GTGAAATTTAAGAGATTTGCAAAAATGAACAAAGCAAGAACATTAAACACATATTCACTATGTATTTATATTTGCCAGGTTAATATAATTAATAATAAATAGAAAAACATGTGTTTATCAGTAAGCATGTTAGTGAATATATAACCAAATAGCACCAAAGGAGGAAATTTGGGCTCACTATTTGGTTACTAGAGATATTTGCTTTGGTTGTTTTAGGTATAACAACAGTGACTGTCTTTTTTTGGTAGAACTTCCCTTGGACCCTCAGCTGCTTTAAAGATATTAGTTTGTTTTAGACATGTCAGAAACAAGAAATACAG... | benign | 50,685 |
Does the variant impacting TTN (titin) on chromosome 2, position 178680242, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGGCACCTCTGGCACTTTAAAGATATTATTTATATTTAGGAATATGTTCTTTTAAAATGTCTTAGAGCAATAGATATGAAAAAGAATCACAAAATATCTGACATATTTCTAACCAGATAGACACTTTAAAAATGTACAATGTAATGGGGAAATTTGTATGTGAGTATACATAGATGTGAGTTTTTTCCCCCAAGTACTCTAAGTGATGAAATTATGTACCTTTTGCAGGTGGAGCCTCCACTTTCTTAGGAGCAGGAACTGGCACCTTCTTCTCAGGCACAGGCTTCTTGGGTACCTCTGGCACTTTAACGAAATGATT... | TGGGCACCTCTGGCACTTTAAAGATATTATTTATATTTAGGAATATGTTCTTTTAAAATGTCTTAGAGCAATAGATATGAAAAAGAATCACAAAATATCTGACATATTTCTAACCAGATAGACACTTTAAAAATGTACAATGTAATGGGGAAATTTGTATGTGAGTATACATAGATGTGAGTTTTTTCCCCCAAGTACTCTAAGTGATGAAATTATGTACCTTTTGCAGGTGGAGCCTCCACTTTCTTAGGAGCAGGAACTGGCACCTTCTTCTCAGGCACAGGCTTCTTGGGTACCTCTGGCACTTTAACGAAATGATT... | benign | 50,729 |
Considering the variant on chromosome 2, location 178681645, involving gene TTN (titin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ACCTTTTGCCGGTGGAGCTTCCTTCTTCTTGGGAACAGGAACAGGTTTCTTCTCTTCTGGAACAGGTTTCCTGGGTACCTCAGGCACTTTAAAGATATTATTAAGAATGTTGGAAATTTTGCAGGAAAGAAATAAAATGTGAAAAGCACCTGTAGAAATCATATTTCAGCATCTAAAAATATCTGCTTTAAAGTAAGCAATCATTGGTGCTGCCAATAACCCCCAGAATCTGACCAAATCAGACCCCCAAACTCCAAAGATGCTGTTGCACAGCCCTTTGCAGGAGGCATCATCTACCTTTGACTGGTATCACTGGCACC... | ACCTTTTGCCGGTGGAGCTTCCTTCTTCTTGGGAACAGGAACAGGTTTCTTCTCTTCTGGAACAGGTTTCCTGGGTACCTCAGGCACTTTAAAGATATTATTAAGAATGTTGGAAATTTTGCAGGAAAGAAATAAAATGTGAAAAGCACCTGTAGAAATCATATTTCAGCATCTAAAAATATCTGCTTTAAAGTAAGCAATCATTGGTGCTGCCAATAACCCCCAGAATCTGACCAAATCAGACCCCCAAACTCCAAAGATGCTGTTGCACAGCCCTTTGCAGGAGGCATCATCTACCTTTGACTGGTATCACTGGCACC... | benign | 50,733 |
Regarding the variant at chromosome 2 and position 178682867, affecting gene TTN (titin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Dilated_cardiomyopathy_1G'] | CCCAAACATTCTATTTTATATGTATTGTAGCCATGTGGCAGGACACAGCCACTGGCTAACAGGCTATGGATGTATTTAGAAATAATTTTTCCTTTTAAAGGCATTATCTTCTTATCCTGTATTTACACATTTTTACATCCAACATTCTGCTGACAACTAATTTAAAAGACATGAAACAACAAAATGAAATGAATCATAGTTACATTAATTTCAAAAGAGGCATCAGAAAAGATCACAATCGAGGAAGGAAATCATTATACCTTTAGCAGCGGGTTCAGTCACCTGCTCTTTTTCACGTTTGGTAATTGAAATACGTATTT... | CCCAAACATTCTATTTTATATGTATTGTAGCCATGTGGCAGGACACAGCCACTGGCTAACAGGCTATGGATGTATTTAGAAATAATTTTTCCTTTTAAAGGCATTATCTTCTTATCCTGTATTTACACATTTTTACATCCAACATTCTGCTGACAACTAATTTAAAAGACATGAAACAACAAAATGAAATGAATCATAGTTACATTAATTTCAAAAGAGGCATCAGAAAAGATCACAATCGAGGAAGGAAATCATTATACCTTTAGCAGCGGGTTCAGTCACCTGCTCTTTTTCACGTTTGGTAATTGAAATACGTATTT... | pathogenic | 50,738 |
Chromosome 2, position 178682903, gene TTN (titin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GGCAGGACACAGCCACTGGCTAACAGGCTATGGATGTATTTAGAAATAATTTTTCCTTTTAAAGGCATTATCTTCTTATCCTGTATTTACACATTTTTACATCCAACATTCTGCTGACAACTAATTTAAAAGACATGAAACAACAAAATGAAATGAATCATAGTTACATTAATTTCAAAAGAGGCATCAGAAAAGATCACAATCGAGGAAGGAAATCATTATACCTTTAGCAGCGGGTTCAGTCACCTGCTCTTTTTCACGTTTGGTAATTGAAATACGTATTTTTTCCTCAAAAACTTTCTTTGGTTCTTCAGGCACTT... | GGCAGGACACAGCCACTGGCTAACAGGCTATGGATGTATTTAGAAATAATTTTTCCTTTTAAAGGCATTATCTTCTTATCCTGTATTTACACATTTTTACATCCAACATTCTGCTGACAACTAATTTAAAAGACATGAAACAACAAAATGAAATGAATCATAGTTACATTAATTTCAAAAGAGGCATCAGAAAAGATCACAATCGAGGAAGGAAATCATTATACCTTTAGCAGCGGGTTCAGTCACCTGCTCTTTTTCACGTTTGGTAATTGAAATACGTATTTTTTCCTCAAAAACTTTCTTTGGTTCTTCAGGCACTT... | pathogenic | 50,739 |
A genetic variant at chromosome 2, position 178689899, affecting gene TTN (titin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TATATATAAATATGAAGCCTCTTTTATTCTATGTAGGCAAGTAAGAAGGGATGCAGAAGAAATACACTGGATTTCTCTAATCTAGTATAATCCTCCTGAATCTTGTGTTTTGATCAAAATATTCATTTAATGAGACTGGTAGATGTTCACTGAATTTGTGTCACTTTTTTCTGTCTCTTTTCATTGGTCTGTAGACAATTTGTGAAAGAAAACACCTCATCAAAACCCCAGATCATCTCTAGCTTATTTGCATTGTTTACCTTCATATTCTGTAACCTCTGCTTCTTCCTCCTCCTCTCTTTCTTCTTCTCTATAAACTG... | TATATATAAATATGAAGCCTCTTTTATTCTATGTAGGCAAGTAAGAAGGGATGCAGAAGAAATACACTGGATTTCTCTAATCTAGTATAATCCTCCTGAATCTTGTGTTTTGATCAAAATATTCATTTAATGAGACTGGTAGATGTTCACTGAATTTGTGTCACTTTTTTCTGTCTCTTTTCATTGGTCTGTAGACAATTTGTGAAAGAAAACACCTCATCAAAACCCCAGATCATCTCTAGCTTATTTGCATTGTTTACCTTCATATTCTGTAACCTCTGCTTCTTCCTCCTCCTCTCTTTCTTCTTCTCTATAAACTG... | benign | 50,768 |
The mutation in gene TTN (titin) at chromosome 2, position 178698916—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | benign | 50,799 |
The mutation in gene TTN (titin) at chromosome 2, position 178698916—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | benign | 50,800 |
Determine whether the variant at chromosome 2, position 178698916, in gene TTN (titin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | CCCTTCCTTTCTAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATA... | benign | 50,801 |
Mutation at chromosome 2, position 178698927, within TTN (titin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGT... | TAGCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGT... | benign | 50,802 |
Located at chromosome 2 position 178698929, the variant affecting gene TTN (titin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTT... | GCCCTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTT... | benign | 50,803 |
Gene TTN (titin) variant at chromosome 2, position 178698932—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTTATT... | CTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTTATT... | benign | 50,805 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178698932, gene TTN (titin). What disease(s) is it linked to if pathogenic? | benign | CTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTTATT... | CTCACTTCTTCTTTCTCTGAGACCATTGCACAGAGGCAGCATAAACATCTGCCTGGGTTTGTTTTCCTGGGAAAGGGGCAATATGAAATAGCCATCATTTCTAATGCTAAATTTAACACAGCAGAGGAGACTCCACAACTTTCAATAAGTTGGAAGCCTAATATTTAAAATAAGAATAGTTAGCAGAAGTGCAAATCTCAGGAATAAACAGAATAAAAATAATTTATCTTTATTTACCTTTTGCTGGAATTAAGGTAGTAGGAGGTGGAGGCTTCTTGACAATCTCTGGGAGTTTAAAAACATAAAAATGTGTGTTTATT... | benign | 50,806 |
Variant in TTN (titin), chromosome 2, position 178702075—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTTAAAACATTATTTAACTTCTCAAGTTTCACAGTGAGTACCAAACTTAGCCATGTTGATACTACCAGTCAAAGAACAAATCATTCATTAACATAAGTTATTATTTTTGACAACAGAAATAGAAATGGAAATCCAATTTATGATTGTTGATTCTTGTTCCTCTCTGTTCTCACAGCTAGATAAAATGCTTATGTTCGTATGAATCATAAAAATGCTTCTCTTTGTTAATGAGGTTGCATTAGTCACAAAATTGGAAGTTTCTAATTGAATTTCCTCTAAGGCTGGCTGAAAAATAGGTCAAGCGTTTAATGCCAATTATA... | TTTAAAACATTATTTAACTTCTCAAGTTTCACAGTGAGTACCAAACTTAGCCATGTTGATACTACCAGTCAAAGAACAAATCATTCATTAACATAAGTTATTATTTTTGACAACAGAAATAGAAATGGAAATCCAATTTATGATTGTTGATTCTTGTTCCTCTCTGTTCTCACAGCTAGATAAAATGCTTATGTTCGTATGAATCATAAAAATGCTTCTCTTTGTTAATGAGGTTGCATTAGTCACAAAATTGGAAGTTTCTAATTGAATTTCCTCTAAGGCTGGCTGAAAAATAGGTCAAGCGTTTAATGCCAATTATA... | benign | 50,820 |
The mutation in gene TTN (titin) at chromosome 2, position 178704946—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Dilated_cardiomyopathy_1G', 'Myocarditis', 'Primary_dilated_cardiomyopathy'] | ATTGTGAGTTCTTAAAATATTTATATAAAGAACATACTAAAGAGAGCTAATGACCCAAAGTCAAATTAAATTTTAAAAGTGTTAGGGAACACAAACTTGATTGTACTCTACAACTTATTCCTCTGTGAAATTCTTTCTTGCCTCAGTAAAATAATTTTTGCTATTCAGGATCTATAATTGTTTATCTAATATGTATAACTTTTCCTGTAAAATAATTTCAAACGCAATCGGAAATCTGCACTTCTAAATTTCAAAAAGAAAAATTTTAGAGTTCAGAAATCTGCTAAGTACATATGGGCACAAACAAAGTATGTGTGTGG... | ATTGTGAGTTCTTAAAATATTTATATAAAGAACATACTAAAGAGAGCTAATGACCCAAAGTCAAATTAAATTTTAAAAGTGTTAGGGAACACAAACTTGATTGTACTCTACAACTTATTCCTCTGTGAAATTCTTTCTTGCCTCAGTAAAATAATTTTTGCTATTCAGGATCTATAATTGTTTATCTAATATGTATAACTTTTCCTGTAAAATAATTTCAAACGCAATCGGAAATCTGCACTTCTAAATTTCAAAAAGAAAAATTTTAGAGTTCAGAAATCTGCTAAGTACATATGGGCACAAACAAAGTATGTGTGTGG... | pathogenic | 50,841 |
A genetic variant on chromosome 2, position 178705375, affects the gene TTN (titin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATTATATTAAAAATATCAATTATTTAAAAAATAATTAGTACTTGCAGCTGGCCCTTTAATTTGAAAACCATTTAAAATACAACCAGTCACTGATATTCATTGTAAGGTAAGTCAGAAAAGTTGACATGCTTATGTAAATCCAATGTCATATATTTGTGTTTCAGCAACTACGAATGGGCACCAATAGCTGAAAGCAGATGCTATTATCATAGCCAAAATTTTTCTCAATACAGTTTGAGGGTGTCTTTGGAAAATGTGTATAATCAATTAGGAAATGAATGTTGTTACTCCTAAATTCTGAGATTTCACTTAATTTCAGA... | ATTATATTAAAAATATCAATTATTTAAAAAATAATTAGTACTTGCAGCTGGCCCTTTAATTTGAAAACCATTTAAAATACAACCAGTCACTGATATTCATTGTAAGGTAAGTCAGAAAAGTTGACATGCTTATGTAAATCCAATGTCATATATTTGTGTTTCAGCAACTACGAATGGGCACCAATAGCTGAAAGCAGATGCTATTATCATAGCCAAAATTTTTCTCAATACAGTTTGAGGGTGTCTTTGGAAAATGTGTATAATCAATTAGGAAATGAATGTTGTTACTCCTAAATTCTGAGATTTCACTTAATTTCAGA... | benign | 50,844 |
Variant chromosome 2, position 178709874, gene TTN (titin): benign or pathogenic? Disease(s)? | benign | AGGTATTTTCATGAGGAACATAAAGGCAAAAAAGTATTAAATTCCACAAGAGAAACAAATAAAGAGAAAAACTGGCCTCTAACAGGTAACACTGTTGCTGTAGTAGGACAGAATTATGTGCCTGGTTTATTCCTCTCTAAAGACAATAGTTTAAATTTGTTGGATTTTTTAAAAAGATAAAGGTTTAAAAACAAGCAAAGAACACATCACATGCTGCCCACAAATTGCCCCAGCCTCTGTGTCCTTACTAAGCACTGCAGACATTGGCAGTTACTATGAACTTCTTTGCCATATAGCACACTATTAATTCTCTCAAACCT... | AGGTATTTTCATGAGGAACATAAAGGCAAAAAAGTATTAAATTCCACAAGAGAAACAAATAAAGAGAAAAACTGGCCTCTAACAGGTAACACTGTTGCTGTAGTAGGACAGAATTATGTGCCTGGTTTATTCCTCTCTAAAGACAATAGTTTAAATTTGTTGGATTTTTTAAAAAGATAAAGGTTTAAAAACAAGCAAAGAACACATCACATGCTGCCCACAAATTGCCCCAGCCTCTGTGTCCTTACTAAGCACTGCAGACATTGGCAGTTACTATGAACTTCTTTGCCATATAGCACACTATTAATTCTCTCAAACCT... | benign | 50,875 |
A genetic variant on chromosome 2, position 178712239, affects the gene TTN (titin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGCTCCAGACCAACCTGGCCAACATGGTGAAACCCCGTTTCTACCAAAAAATACAAAAATTAGTTGGTCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCACTGTACTCCAGCCTGTGCGACAGAATGAGATCCTGTCTCGAGGAAAGAAAGAAATACAGATTTAAAAAATGACTTCTTCTCTAGATAAACTTATTTCCTCTTA... | ATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGCTCCAGACCAACCTGGCCAACATGGTGAAACCCCGTTTCTACCAAAAAATACAAAAATTAGTTGGTCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAACTGAGATCACGCCACTGTACTCCAGCCTGTGCGACAGAATGAGATCCTGTCTCGAGGAAAGAAAGAAATACAGATTTAAAAAATGACTTCTTCTCTAGATAAACTTATTTCCTCTTA... | benign | 50,895 |
Variant on chromosome 2, at position 178712983, affecting TTN (titin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAGAAAGACAAGGTTTCAGGCTCAATATCTGGACCATGTCAGTTTACTGAAATAGAAATTTCTCCCTAAGTTCATATTTGATTATAATACTTTAATTCTAGAAATGAAAGTTTAAGAATCCACAAACCTGTGAGAATGAGCCTGGCACTGGAAGAAGCAGAGCCTATAGGGTTTGTAGCTGTGCAGGAATACTGGCCTGCAAGGCTCCGGTCAGTTTTAAAAATATTGAGTGTGGCTGTATTGTCTAAAAATGATGTTTGTACATTTGGGCTGTCTTTCAATGGCTTGCCGTCTTTATACCAAGACACGGAGATAGGTTC... | CAGAAAGACAAGGTTTCAGGCTCAATATCTGGACCATGTCAGTTTACTGAAATAGAAATTTCTCCCTAAGTTCATATTTGATTATAATACTTTAATTCTAGAAATGAAAGTTTAAGAATCCACAAACCTGTGAGAATGAGCCTGGCACTGGAAGAAGCAGAGCCTATAGGGTTTGTAGCTGTGCAGGAATACTGGCCTGCAAGGCTCCGGTCAGTTTTAAAAATATTGAGTGTGGCTGTATTGTCTAAAAATGATGTTTGTACATTTGGGCTGTCTTTCAATGGCTTGCCGTCTTTATACCAAGACACGGAGATAGGTTC... | benign | 50,911 |
Gene TTN (titin) variant at chromosome 2, position 178713381—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | benign | 50,918 |
Does the genetic variant at chromosome 2, position 178713381, impacting gene TTN (titin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | benign | 50,919 |
Chromosome 2, position 178713381, gene TTN (titin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | benign | 50,920 |
Clinical significance of chromosome 2, position 178713381, gene TTN (titin): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | benign | 50,921 |
Gene TTN (titin) variant at chromosome 2, position 178713381—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | TGGTGGAAGTTTTTGCTCTGTAGGAACAGAATAAAAGTAACAAATACTTTAATTTACTAAATGCTCTTCTCACAATTATATATATACAAACGCACGTATATATGCAATTTCTATTAAAAATCAGGAATTATTAATGTCTCTTGAATTAACTTGGAGATAAAGAAAAGCATATAGATTTCTGGAGCAAAAGTATCACTCTGAGACCAACCCTAATGCACAGTAGGTGCAAAACAGTATGAAAACCAATAAAGCAATTGGTTGGCTGAAGGCATGTCTCTGGGCAAGCAGCAGATTCCTGTAATTTTAAAGACTGCCTTCTA... | benign | 50,922 |
For chromosome 2, position 178715215, gene TTN (titin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTCCAGCATGTTCACAGTTAAAGCACAAGTATTATCTGTCAGGGTGGTCTGGTATTTCCTTCCACTACTGATCTCATTTCCTTCATGGAACCAGGAGACAGAGATTGGAGGTGACCCATAGACTTTACACTCCATTACAACTGAGGAGCCGGATAGACCATTTGTCTCTTTCAATTTTCTTGTGAATGAAGGAGGAACGGTTCGGTCTGAATGATACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAATTATAAAATGACTTGAAGAGAGAACTGTCTTTTTGATGGACTATCCCTAGATCCATT... | TTCCAGCATGTTCACAGTTAAAGCACAAGTATTATCTGTCAGGGTGGTCTGGTATTTCCTTCCACTACTGATCTCATTTCCTTCATGGAACCAGGAGACAGAGATTGGAGGTGACCCATAGACTTTACACTCCATTACAACTGAGGAGCCGGATAGACCATTTGTCTCTTTCAATTTTCTTGTGAATGAAGGAGGAACGGTTCGGTCTGAATGATACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAATTATAAAATGACTTGAAGAGAGAACTGTCTTTTTGATGGACTATCCCTAGATCCATT... | pathogenic | 50,950 |
Is the variant located on chromosome 2 at position 178718615, gene TTN (titin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCCATAATAGCAGATACTGATCTACTTACTCCCCAGCCCCTGACCTCCACTATTATTTAAGTGGGGCTAGTGGAGGAAAGTAAGTTGAACTTATCATTCTCATCTGAATTCTCCTTGAAGGGCTTGATAGTTTGGCTCTTTGCTATGCCTTAGAGGGACAAAATCCATTCATTTACTAAGTACTGTGGGAAAAAAGTCATTTGCAATAACTTCGCTTTTGTCCTATGATACCGTCTTTCAAACTAGGATTTTCTTGCAATTTTGTAGAGTTTCGGTTATCTCTCTCTAGTCTCTATTTTTAGTCTCTTAAAATGGACTT... | TTCCATAATAGCAGATACTGATCTACTTACTCCCCAGCCCCTGACCTCCACTATTATTTAAGTGGGGCTAGTGGAGGAAAGTAAGTTGAACTTATCATTCTCATCTGAATTCTCCTTGAAGGGCTTGATAGTTTGGCTCTTTGCTATGCCTTAGAGGGACAAAATCCATTCATTTACTAAGTACTGTGGGAAAAAAGTCATTTGCAATAACTTCGCTTTTGTCCTATGATACCGTCTTTCAAACTAGGATTTTCTTGCAATTTTGTAGAGTTTCGGTTATCTCTCTCTAGTCTCTATTTTTAGTCTCTTAAAATGGACTT... | benign | 50,998 |
Does the variant on chromosome 2 at location 178721916 affecting gene TTN (titin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Dilated_cardiomyopathy_1G'] | AACCTTTCAAACTCAAGAGTGCAATCACTGAATTACTGGATAAGAGGAATATTTGAGGAAAATGATCATGGATCAAGTAAATTGATTTTTTCTCTGGCTGTGCTTTGCTACTAACCTAGTACAGTCAAGACTGCAGAGCATTCTCTCATTCCAGCATCGTTTTTGATTTGGCATATATATTTTCCAGAATTAGATGCTTCTGGACTCCCCAGCTGGAGGGTTGCAATGTTATCAATGAATGAAATCCTGGTATTTTCACTCTCTCTGATGACTTCACCTCTATCTTTCAGCCAGACAACAGAAATTGGCTGGAAGCCCTC... | AACCTTTCAAACTCAAGAGTGCAATCACTGAATTACTGGATAAGAGGAATATTTGAGGAAAATGATCATGGATCAAGTAAATTGATTTTTTCTCTGGCTGTGCTTTGCTACTAACCTAGTACAGTCAAGACTGCAGAGCATTCTCTCATTCCAGCATCGTTTTTGATTTGGCATATATATTTTCCAGAATTAGATGCTTCTGGACTCCCCAGCTGGAGGGTTGCAATGTTATCAATGAATGAAATCCTGGTATTTTCACTCTCTCTGATGACTTCACCTCTATCTTTCAGCCAGACAACAGAAATTGGCTGGAAGCCCTC... | pathogenic | 51,041 |
Gene mutation in TTN (titin) at chromosome 2, position 178722752—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | ACTATAAAGGAAAAAAAAATTAAATCTAGAACCTTGAAGAGTGACTGGTGTGATCATATGACAATACATGCTGACACAAGAAATGACAATTCATTAAAACTTGTTGAAGAATTGCAACCAAATAACCTTAATTATCCTTTTATTTTGGAACTCATAACTTTGCTAAGAGCCCAAATCAGAGGAGAATAAAGAAACAAAGAAGCTTAGTGTGTCTAACCTTTCACTGTCAACGCTGTGCTGCAGCTGGCGTCACCAACACCATTATGAGCCTCACAAATGTAGTCCCCGCTGTCTTCAGCACTAGCTTCATTGATCGTAAG... | ACTATAAAGGAAAAAAAAATTAAATCTAGAACCTTGAAGAGTGACTGGTGTGATCATATGACAATACATGCTGACACAAGAAATGACAATTCATTAAAACTTGTTGAAGAATTGCAACCAAATAACCTTAATTATCCTTTTATTTTGGAACTCATAACTTTGCTAAGAGCCCAAATCAGAGGAGAATAAAGAAACAAAGAAGCTTAGTGTGTCTAACCTTTCACTGTCAACGCTGTGCTGCAGCTGGCGTCACCAACACCATTATGAGCCTCACAAATGTAGTCCCCGCTGTCTTCAGCACTAGCTTCATTGATCGTAAG... | pathogenic | 51,055 |
Is chromosome 2, position 178727873, gene TTN (titin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGTGGTATTCACCGATGTCTGAAGTGTCCACATTGAGAATGTGAATACTTGTGTGGAAGTTTTTGGATGCAATCTTGTATTTCTTGCTGCTTCTGAGTTGCCGCTTGTCTTTGTACCATACCACCTCAAACGGTGGTGTTCCCGAAAGTTCACATTCAAGACTGACTTCAGCATTTTTAAGGGTTTCTACTATAGGAGGGAAGCTGCTAAAAACAGGTGGCTCTGCAAAAAACAAGAATTTCTCATGAATTGGGCTACTGAATTTCACAAAATGAAAATTTTTTATTTGTCTTTAAATTGGAAGAAAGGTTTAAGATATT... | AGTGGTATTCACCGATGTCTGAAGTGTCCACATTGAGAATGTGAATACTTGTGTGGAAGTTTTTGGATGCAATCTTGTATTTCTTGCTGCTTCTGAGTTGCCGCTTGTCTTTGTACCATACCACCTCAAACGGTGGTGTTCCCGAAAGTTCACATTCAAGACTGACTTCAGCATTTTTAAGGGTTTCTACTATAGGAGGGAAGCTGCTAAAAACAGGTGGCTCTGCAAAAAACAAGAATTTCTCATGAATTGGGCTACTGAATTTCACAAAATGAAAATTTTTTATTTGTCTTTAAATTGGAAGAAAGGTTTAAGATATT... | benign | 51,121 |
Is the genetic variant on chromosome 2, position 178739120, gene TTN (titin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GAAGAGGGAAAGAAAGAAAAGAAAGAAAGAAAGATAGAGAGGAGGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAAAGAAGGTAGGAAGAAAGGAAGAAAAGCTTGCTACTAATATTTTGGTTAATGAAGGCATTCAAGTATTTGATGAGTGTTAACTATTTGAAAGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTC... | GAAGAGGGAAAGAAAGAAAAGAAAGAAAGAAAGATAGAGAGGAGGGAGGGAAGGAGGGAAGGAAGGAAGGAAGGAAAGAAGGTAGGAAGAAAGGAAGAAAAGCTTGCTACTAATATTTTGGTTAATGAAGGCATTCAAGTATTTGATGAGTGTTAACTATTTGAAAGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTC... | benign | 51,263 |
Variant in TTN (titin), chromosome 2, position 178739176—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GGAAGGAAGGAAGGAAGGAAAGAAGGTAGGAAGAAAGGAAGAAAAGCTTGCTACTAATATTTTGGTTAATGAAGGCATTCAAGTATTTGATGAGTGTTAACTATTTGAAAGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGC... | GGAAGGAAGGAAGGAAGGAAAGAAGGTAGGAAGAAAGGAAGAAAAGCTTGCTACTAATATTTTGGTTAATGAAGGCATTCAAGTATTTGATGAGTGTTAACTATTTGAAAGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGC... | pathogenic | 51,265 |
Mutation at chromosome 2, position 178739285, within TTN (titin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCT... | AGTCACCCTACATATCAATTAGAAAATTGGGAATAGGATATTTGTGTAGTTGTCTTATTTTCTTTCTTTCTTTTTTTTTTTTTAGGTGGAGTCTCGCTATGTTGCCCAGGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCT... | pathogenic | 51,274 |
Regarding the variant at chromosome 2 and position 178739393, affecting gene TTN (titin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | GGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCGTCTTATTTTTAAATTAGTAAAAATGCCTAGAGAGAATCCTAGTTTTCAGTCCTATACTAGCTCC... | GGCTGGAGAGCAGTGGTGCAATCCTGGCTTACTGCAACCTCTGCCTCCTGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCGTCTTATTTTTAAATTAGTAAAAATGCCTAGAGAGAATCCTAGTTTTCAGTCCTATACTAGCTCC... | pathogenic | 51,280 |
Is chromosome 2, position 178739472, gene TTN (titin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCGTCTTATTTTTAAATTAGTAAAAATGCCTAGAGAGAATCCTAGTTTTCAGTCCTATACTAGCTCCCTGTCTTACATTAGGATTTAATTTTAGACTTAGACACTGACTTTTTTAAGTTTGTAATTCTGTTCTTAATTGGTTATTT... | CCAAGTAGCTGGGACTACAGGTGCGTGACACCACGCCTGGCTAATTTTTTATATTTTTAGTAGAGATCGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCGTCTTATTTTTAAATTAGTAAAAATGCCTAGAGAGAATCCTAGTTTTCAGTCCTATACTAGCTCCCTGTCTTACATTAGGATTTAATTTTAGACTTAGACACTGACTTTTTTAAGTTTGTAATTCTGTTCTTAATTGGTTATTT... | pathogenic | 51,285 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178739707, gene TTN (titin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | AGCTCCCTGTCTTACATTAGGATTTAATTTTAGACTTAGACACTGACTTTTTTAAGTTTGTAATTCTGTTCTTAATTGGTTATTTGATTTAAAATTTTTAAATACATTGAGACATTATTTTTTTTTAGTGGCACCAAACTGTCCTGATATGTTTTATATGAAGGGCCAAGCTGAGCTCATTTGATTACTTAACTTTGTTCTCAAATAATAAATTATTTTTTCTTTGGTCAGTAGTAGAAATGTGACTGTAAATAATGATTTCTTATCCCATATAGGCTCTGCAGTACCTACCTACCATGTTACTGTCTTGGTTGTTGGTC... | AGCTCCCTGTCTTACATTAGGATTTAATTTTAGACTTAGACACTGACTTTTTTAAGTTTGTAATTCTGTTCTTAATTGGTTATTTGATTTAAAATTTTTAAATACATTGAGACATTATTTTTTTTTAGTGGCACCAAACTGTCCTGATATGTTTTATATGAAGGGCCAAGCTGAGCTCATTTGATTACTTAACTTTGTTCTCAAATAATAAATTATTTTTTCTTTGGTCAGTAGTAGAAATGTGACTGTAAATAATGATTTCTTATCCCATATAGGCTCTGCAGTACCTACCTACCATGTTACTGTCTTGGTTGTTGGTC... | pathogenic | 51,299 |
Is the genetic change at chromosome 2, position 178740117, within gene TTN (titin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GTATGGCATTTACCTGTCACAGTTAGTGTGGCTGTACAGCTGACACTGCCATACTCATTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACA... | GTATGGCATTTACCTGTCACAGTTAGTGTGGCTGTACAGCTGACACTGCCATACTCATTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACA... | pathogenic | 51,315 |
Does the variant impacting TTN (titin) on chromosome 2, position 178740127, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TACCTGTCACAGTTAGTGTGGCTGTACAGCTGACACTGCCATACTCATTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTA... | TACCTGTCACAGTTAGTGTGGCTGTACAGCTGACACTGCCATACTCATTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTA... | pathogenic | 51,316 |
Is the genetic change at chromosome 2, position 178740174, within gene TTN (titin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTATCAGGCATATGACATTTTTGTTTTTCTTCTAACTTTTGTTGCTGTTA... | TTGGAAGCTTTGCATGTATACTCGCCGCAGTCAACCACCTGGGTTCTCAGGATTTCAAGGCTGGAGATATACTTTGAAGATCGAATAGAACACTTGTCACTCTCATAAATTTCTCGGCCAGCTTTAAACCACTGGAACCGGACATTGGGAGCACTTTGGATCTCACAGGTGAATTTGGCTAGGTGGCCCAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTATCAGGCATATGACATTTTTGTTTTTCTTCTAACTTTTGTTGCTGTTA... | pathogenic | 51,319 |
Benign or pathogenic: chromosome 2, position 178740362, gene TTN (titin) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | CAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTATCAGGCATATGACATTTTTGTTTTTCTTCTAACTTTTGTTGCTGTTAATGGAGTAAAACAGTTGAAATTGGTGAGATGGATTACAGCAGTTTAAGGCAAGTGACTGGAAAATGAGAAAGATCATTGAAGGCAAAAGAAGACAATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATG... | CAGTGCTACTTCCAGGGGTTCGATTTTCCTCTTGATCACTGGGGCAGCTGCAAAGGGAAGTAGAGTCCATTAACATGCCTCCTTATCAGGCATATGACATTTTTGTTTTTCTTCTAACTTTTGTTGCTGTTAATGGAGTAAAACAGTTGAAATTGGTGAGATGGATTACAGCAGTTTAAGGCAAGTGACTGGAAAATGAGAAAGATCATTGAAGGCAAAAGAAGACAATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATG... | pathogenic | 51,330 |
A genetic variant at chromosome 2, position 178740487, affecting gene TTN (titin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiomyopathy', 'Dilated_cardiomyopathy_1G'] | GCTGTTAATGGAGTAAAACAGTTGAAATTGGTGAGATGGATTACAGCAGTTTAAGGCAAGTGACTGGAAAATGAGAAAGATCATTGAAGGCAAAAGAAGACAATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATGATATATTCTTTAAATATACCATGCTGAATGGGAACACTGAAAATAATGTGAAGAAACATGATATACTAAATAAAGTGATGAAGTGAAACAACAACAAAAAATAAACAGAAAAAAGAAACAGACAA... | GCTGTTAATGGAGTAAAACAGTTGAAATTGGTGAGATGGATTACAGCAGTTTAAGGCAAGTGACTGGAAAATGAGAAAGATCATTGAAGGCAAAAGAAGACAATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATGATATATTCTTTAAATATACCATGCTGAATGGGAACACTGAAAATAATGTGAAGAAACATGATATACTAAATAAAGTGATGAAGTGAAACAACAACAAAAAATAAACAGAAAAAAGAAACAGACAA... | pathogenic | 51,337 |
Classify the chromosome 2 variant at position 178740588 affecting gene TTN (titin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | AATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATGATATATTCTTTAAATATACCATGCTGAATGGGAACACTGAAAATAATGTGAAGAAACATGATATACTAAATAAAGTGATGAAGTGAAACAACAACAAAAAATAAACAGAAAAAAGAAACAGACAACTAATCATGGTTATTTTAAATCTAAGGGTGAGACCAGTGATTTCAGAGTGGCTAGGTGTTCACTGATACTTTTTATTACATATTATGAAAGTTATCTTCAT... | AATAAGCTTTTTTTAAAAAAAACCTATTCAATCATTGCTTTGCAGTGAATTGTGAAAAAATGTGATGCTATTGGATTATATGCATAACAACATGATATATTCTTTAAATATACCATGCTGAATGGGAACACTGAAAATAATGTGAAGAAACATGATATACTAAATAAAGTGATGAAGTGAAACAACAACAAAAAATAAACAGAAAAAAGAAACAGACAACTAATCATGGTTATTTTAAATCTAAGGGTGAGACCAGTGATTTCAGAGTGGCTAGGTGTTCACTGATACTTTTTATTACATATTATGAAAGTTATCTTCAT... | pathogenic | 51,344 |
Gene mutation in TTN (titin) at chromosome 2, position 178747082—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGAGTTAGTTGCCAATTGGGAGAAGCTGGTTTTTGTTGTTTGTTTTGCCTATTCTAAGTCAAAGTAAATAAACATGAGTTTGGATGCAAAGGGGTTAAAATTCCAAAAATAACTTAGAATGGGAGCAGAGAGATTTGCCCTTACCAATTTGTCTGCGTGGTCATCTGATATGGTCTCCACTTTTACATTGTACTTTTGCATATATGGTTTATCTGCTAAAAGAGAGTCCATTCCACTGAAACACTTTGTGGAGGAGGCATGAGGGTAAATAGAAGTACAAACAATTAGGTAGCCAAGGAGAGATTTAATTGTGTTTGATA... | AGAGTTAGTTGCCAATTGGGAGAAGCTGGTTTTTGTTGTTTGTTTTGCCTATTCTAAGTCAAAGTAAATAAACATGAGTTTGGATGCAAAGGGGTTAAAATTCCAAAAATAACTTAGAATGGGAGCAGAGAGATTTGCCCTTACCAATTTGTCTGCGTGGTCATCTGATATGGTCTCCACTTTTACATTGTACTTTTGCATATATGGTTTATCTGCTAAAAGAGAGTCCATTCCACTGAAACACTTTGTGGAGGAGGCATGAGGGTAAATAGAAGTACAAACAATTAGGTAGCCAAGGAGAGATTTAATTGTGTTTGATA... | benign | 51,422 |
Clinical classification of chromosome 2, position 178752043, gene TTN (titin): benign or pathogenic? Disease(s) if pathogenic? | benign | AGGCATTGCTTTAGGTTCCAGCTCCTCAGTTTGAAACACTTCTTTAGACTCTTTATCCTGTTCTGGGATAGGAGTAGCTGCTGTTACCTGAATTTCTACAGGAAAGGAAAGCAATTCTGTGTCTCCAGAGGGAGGAACTGGTGGGTTAGTTTTTAACAAATGAAGATTTGTTTGGCCCTCTTGACTCATAGATGGATGGGCGCCTTTTGCTTGGTCAAACACCAATGCTAACTCTTCTTCCTCATCCAAGTAGTCATGGAACACTGGGACTTTATGTGCTTTGACATCATGTTTTTGTTTTGCTTTCACTTTAAGCATAC... | AGGCATTGCTTTAGGTTCCAGCTCCTCAGTTTGAAACACTTCTTTAGACTCTTTATCCTGTTCTGGGATAGGAGTAGCTGCTGTTACCTGAATTTCTACAGGAAAGGAAAGCAATTCTGTGTCTCCAGAGGGAGGAACTGGTGGGTTAGTTTTTAACAAATGAAGATTTGTTTGGCCCTCTTGACTCATAGATGGATGGGCGCCTTTTGCTTGGTCAAACACCAATGCTAACTCTTCTTCCTCATCCAAGTAGTCATGGAACACTGGGACTTTATGTGCTTTGACATCATGTTTTTGTTTTGCTTTCACTTTAAGCATAC... | benign | 51,478 |
Gene TTN (titin) variant at chromosome 2, position 178753195—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCTGATTTTCATGTCCTCTCTAGAGAACAGAATATCTTTATCACTAGCTTCACTTCTCAAAGTTCTTGAGCTTATTTCAGAAGACGTATCTAAAAGAGATAATTTCTTTTTCTCCATTAATGTTTTTCTAGCCTCCCTTAAACGTTGCAACTTCACTTTGGTCTCCTTGTCCAGGAAACTTTCACCTACATTAAGCCAACCTCTTATGTCAGATTTACTTTCTAAATATTCTTCATCATACATGTAATCTGTTTTCTTGGCAGAACTCATTGTCTTAAAATGTATAGTTCTCATCATTCCCTTTTGTTCCACATCTTGTT... | TCTGATTTTCATGTCCTCTCTAGAGAACAGAATATCTTTATCACTAGCTTCACTTCTCAAAGTTCTTGAGCTTATTTCAGAAGACGTATCTAAAAGAGATAATTTCTTTTTCTCCATTAATGTTTTTCTAGCCTCCCTTAAACGTTGCAACTTCACTTTGGTCTCCTTGTCCAGGAAACTTTCACCTACATTAAGCCAACCTCTTATGTCAGATTTACTTTCTAAATATTCTTCATCATACATGTAATCTGTTTTCTTGGCAGAACTCATTGTCTTAAAATGTATAGTTCTCATCATTCCCTTTTGTTCCACATCTTGTT... | benign | 51,484 |
Clinically, how would you classify the variant at chromosome 2, position 178759039, gene TTN (titin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Primary_dilated_cardiomyopathy'] | TGCTGAGTGGTTGATGAAGACTCATGCAGATGCCATGCAGTATCTGGTTCCTTCTTTCTGTTGTCATTTCAGCTATCCAAAGTGACCCAGTCTGTCTTTCTCTCTCTCCCTCTAGCTGACTGTATTTGGGTTAGCATTTGCTCTCCGTCCACTGTATGCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATAATCAGCAAATAGATCATTTAATGATGCAATGATACAATATTGCTTAGAAGAGTAAAGAAGCCAAGCAAAGGTGGTGCCTAA... | TGCTGAGTGGTTGATGAAGACTCATGCAGATGCCATGCAGTATCTGGTTCCTTCTTTCTGTTGTCATTTCAGCTATCCAAAGTGACCCAGTCTGTCTTTCTCTCTCTCCCTCTAGCTGACTGTATTTGGGTTAGCATTTGCTCTCCGTCCACTGTATGCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATAATCAGCAAATAGATCATTTAATGATGCAATGATACAATATTGCTTAGAAGAGTAAAGAAGCCAAGCAAAGGTGGTGCCTAA... | pathogenic | 51,507 |
Is the genetic variant on chromosome 2, position 178766630, gene TTN (titin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACAGGTATAGACTGCCGCATCCTCTGGGAAGGCTTCAATTAGCAAAAGCGTGTATTCTTGCCCATCATGAAGAAATTTGCACTTGAAGCCAGTGGAAAGCAGCTGCTCTTCCTTGTACCAGGAAATTTTGGGCTGTGGTCTTCCGGATATCACGGCACAGAAGCGGGCAGGCTTGCCAGACTGCACAGTGACAGGCTGGAGCTCCTGCAGAACTTGGGGCGGTTCAGGAGCTAGGAGTAAATGTTGACAAATAGCCCATGAAAAAGTGTAAAAACACAAGAGAGCATGCAAAACTCTACATTAATTTGTTGCTGGCTAGT... | ACAGGTATAGACTGCCGCATCCTCTGGGAAGGCTTCAATTAGCAAAAGCGTGTATTCTTGCCCATCATGAAGAAATTTGCACTTGAAGCCAGTGGAAAGCAGCTGCTCTTCCTTGTACCAGGAAATTTTGGGCTGTGGTCTTCCGGATATCACGGCACAGAAGCGGGCAGGCTTGCCAGACTGCACAGTGACAGGCTGGAGCTCCTGCAGAACTTGGGGCGGTTCAGGAGCTAGGAGTAAATGTTGACAAATAGCCCATGAAAAAGTGTAAAAACACAAGAGAGCATGCAAAACTCTACATTAATTTGTTGCTGGCTAGT... | benign | 51,543 |
Variant at chromosome 2, position 178766630, gene TTN (titin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACAGGTATAGACTGCCGCATCCTCTGGGAAGGCTTCAATTAGCAAAAGCGTGTATTCTTGCCCATCATGAAGAAATTTGCACTTGAAGCCAGTGGAAAGCAGCTGCTCTTCCTTGTACCAGGAAATTTTGGGCTGTGGTCTTCCGGATATCACGGCACAGAAGCGGGCAGGCTTGCCAGACTGCACAGTGACAGGCTGGAGCTCCTGCAGAACTTGGGGCGGTTCAGGAGCTAGGAGTAAATGTTGACAAATAGCCCATGAAAAAGTGTAAAAACACAAGAGAGCATGCAAAACTCTACATTAATTTGTTGCTGGCTAGT... | ACAGGTATAGACTGCCGCATCCTCTGGGAAGGCTTCAATTAGCAAAAGCGTGTATTCTTGCCCATCATGAAGAAATTTGCACTTGAAGCCAGTGGAAAGCAGCTGCTCTTCCTTGTACCAGGAAATTTTGGGCTGTGGTCTTCCGGATATCACGGCACAGAAGCGGGCAGGCTTGCCAGACTGCACAGTGACAGGCTGGAGCTCCTGCAGAACTTGGGGCGGTTCAGGAGCTAGGAGTAAATGTTGACAAATAGCCCATGAAAAAGTGTAAAAACACAAGAGAGCATGCAAAACTCTACATTAATTTGTTGCTGGCTAGT... | benign | 51,544 |
Is the genetic mutation found on chromosome 2 at position 178768788, within the gene TTN (titin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TAAGTTGGCTGATTATAGCACTCTCTAATTTTTCCTGCCTAGTATTGGACAAATGGTACATAAACTTCTCTTGTAGAGAATTGTGTTTACAGCTGCATGGAGGAAAGGAGCTGCCCCAAAGAGACAATTATTTCATCCTTAAATGTTTGCTTCTTATTTACTAATAAGGGATATAATGATGCTTTACCTTTGGGGGCTTTTTATTGTCTAAAAAGTTATTACTTAATTTGATTTCATTTTATATGAATAATAACTTTGTGGGCTAGGTAGGAATTATTATCCTCATTTTAAGAGTGAGAACACTGAGGTTCAGAATTGGC... | TAAGTTGGCTGATTATAGCACTCTCTAATTTTTCCTGCCTAGTATTGGACAAATGGTACATAAACTTCTCTTGTAGAGAATTGTGTTTACAGCTGCATGGAGGAAAGGAGCTGCCCCAAAGAGACAATTATTTCATCCTTAAATGTTTGCTTCTTATTTACTAATAAGGGATATAATGATGCTTTACCTTTGGGGGCTTTTTATTGTCTAAAAAGTTATTACTTAATTTGATTTCATTTTATATGAATAATAACTTTGTGGGCTAGGTAGGAATTATTATCCTCATTTTAAGAGTGAGAACACTGAGGTTCAGAATTGGC... | pathogenic | 51,563 |
Classify the chromosome 2 variant at position 178769662 affecting gene TTN (titin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AGAGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATG... | AGAGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATG... | benign | 51,570 |
Is the genetic variant on chromosome 2, position 178769663, gene TTN (titin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GAGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGA... | GAGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGA... | benign | 51,572 |
Chromosome 2, position 178769664, gene TTN (titin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGAA... | AGAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGAA... | benign | 51,573 |
Variant in gene TTN (titin), located at chromosome 2 position 178769665: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGAAA... | GAGTCTAAGCCAAGTAAGAATGAGCTGATTTAATTCTTTAAAGGATGGTGGTTAGAAAATGTAAAAGGGAAACATTAAAATATAAAATGATAGATTATGGACTACTGATGATTTTTCAAAACATTTAGTATGTAGACAATACCTGAACCTCCTTTTTAATACTTCGGATGCGAACATCTCTGCCTTCTACAAAGAGTTTTGCAGTTGACACGTTGCCTCCTGCCACCACTGTGTACTTCCCAGCATCAGACATCCGGGTGGATGGGATCAGAAGGCGGTGGACATATTTCTCCTTCTGAATCTTTATTCTATGGATGAAA... | benign | 51,574 |
A genetic variant on chromosome 2, position 178770483, affects the gene TTN (titin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | ATAAATGGAATCATACAATATGTGGTCTTTGTATGGTCTCTGGCTTCTTTCACTTAGCATAAAGTTTTAAAGGTTCATCCATGTTGTAGCATATCGTAGTGCTTCCTTTTTATTGCTGAATGATATCCCATCGTATGGCTATCCCACATTTTATTTATCCATTCATTAATTGATACACTAAATTTTATAAAGCATGTATGACATTTTTTCTATGGATCTAATATGTATGAAACCATACCTTCCACATAAAGTGTGGCTGTTGATGTTGCTTTTCCAGCCACAAAGGTGTAGTCAGCAGCATCCCCAAAGTGAACATTCCT... | ATAAATGGAATCATACAATATGTGGTCTTTGTATGGTCTCTGGCTTCTTTCACTTAGCATAAAGTTTTAAAGGTTCATCCATGTTGTAGCATATCGTAGTGCTTCCTTTTTATTGCTGAATGATATCCCATCGTATGGCTATCCCACATTTTATTTATCCATTCATTAATTGATACACTAAATTTTATAAAGCATGTATGACATTTTTTCTATGGATCTAATATGTATGAAACCATACCTTCCACATAAAGTGTGGCTGTTGATGTTGCTTTTCCAGCCACAAAGGTGTAGTCAGCAGCATCCCCAAAGTGAACATTCCT... | pathogenic | 51,596 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178775029, gene TTN (titin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | GGCTTTGGGAACAGCATAAGCAGAGGCATGGAAGTGGGAAACTGAAAGGAATTTTGGGGGAAATGAATAATAATTTCTTAAAATAACAATCACTCCTCGTAAGAATTTAGGTTAATAAATATACCAACCTGCCACAGTAAGTTTTCCAGATGTCATATTTTCTCCCGCGTAAAATGTGTATTTTCCTTCATCATCTTTCATCATATTTAGAACTGTCAATTTATATATTTTTCCATGTGCTTCAATTTTATATTTAGAACTGGGCTTGATTTCCTTGTCCTTAAAATTCCACAGGACATCAATTCCAGAGTGGGACAGCT... | GGCTTTGGGAACAGCATAAGCAGAGGCATGGAAGTGGGAAACTGAAAGGAATTTTGGGGGAAATGAATAATAATTTCTTAAAATAACAATCACTCCTCGTAAGAATTTAGGTTAATAAATATACCAACCTGCCACAGTAAGTTTTCCAGATGTCATATTTTCTCCCGCGTAAAATGTGTATTTTCCTTCATCATCTTTCATCATATTTAGAACTGTCAATTTATATATTTTTCCATGTGCTTCAATTTTATATTTAGAACTGGGCTTGATTTCCTTGTCCTTAAAATTCCACAGGACATCAATTCCAGAGTGGGACAGCT... | pathogenic | 51,665 |
Is the chromosome 2, position 178776189 variant in TTN (titin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TGATCATTTTTTATCAATAAACCATAATGATGCTCACTGCAGGCTGACAGGAATGGGAGGACTTACGTTTCATCTTTAATTTACAGGTTGTCTTTTTCCCGTCGATGACAAAGCTGTATTCTCCCTGGTCCTCCTTGGTTACATCCTTGACCGTGAGGTTCTGACGTCCACGACGAGATGTAATTGTATATTTGCCATTGGATTTAAGCTCCACATCATTATGATACCATTTTCCTTCTATATTTTCTGGGGATACAATGCACTCTAATTCTCCTGAATATGATTCTGGAACTTCTATGTCCTGAAGTTCTTTCACAAAC... | TGATCATTTTTTATCAATAAACCATAATGATGCTCACTGCAGGCTGACAGGAATGGGAGGACTTACGTTTCATCTTTAATTTACAGGTTGTCTTTTTCCCGTCGATGACAAAGCTGTATTCTCCCTGGTCCTCCTTGGTTACATCCTTGACCGTGAGGTTCTGACGTCCACGACGAGATGTAATTGTATATTTGCCATTGGATTTAAGCTCCACATCATTATGATACCATTTTCCTTCTATATTTTCTGGGGATACAATGCACTCTAATTCTCCTGAATATGATTCTGGAACTTCTATGTCCTGAAGTTCTTTCACAAAC... | pathogenic | 51,717 |
Regarding the variant found on chromosome 2 at position 178776386 in gene TTN (titin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTGGATTTAAGCTCCACATCATTATGATACCATTTTCCTTCTATATTTTCTGGGGATACAATGCACTCTAATTCTCCTGAATATGATTCTGGAACTTCTATGTCCTGAAGTTCTTTCACAAACTCAACAACTGCACCTGAAGTGTATAACAGAAAGATAAATCAATTTTTTTGGAGAGGTATGCATCTAGACTTAGGATAGAGATGATGTCTTGTATGTCTTTTATCTCCCCCATACTATCAGGTGTATTCTTAATATCTACCCGCTGATGGGCTGAGAGATAAATTTTCAATAAGAAGCAGTTATTTTATTTTAATTTT... | TTGGATTTAAGCTCCACATCATTATGATACCATTTTCCTTCTATATTTTCTGGGGATACAATGCACTCTAATTCTCCTGAATATGATTCTGGAACTTCTATGTCCTGAAGTTCTTTCACAAACTCAACAACTGCACCTGAAGTGTATAACAGAAAGATAAATCAATTTTTTTGGAGAGGTATGCATCTAGACTTAGGATAGAGATGATGTCTTGTATGTCTTTTATCTCCCCCATACTATCAGGTGTATTCTTAATATCTACCCGCTGATGGGCTGAGAGATAAATTTTCAATAAGAAGCAGTTATTTTATTTTAATTTT... | pathogenic | 51,721 |
Does the variant impacting TTN (titin) on chromosome 2, position 178782240, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | TAACTCATAATCAGCTAAGAGTTAAGAACATCAGTTAATTTTTAATGCTCTTATTAGAAAACAGTCATACCACTATGCATTCAGGTAAACTCTACACTGGGGAAAGTTGATAACCAAAAACCAAATTTTCCAAATATCTACTATTGAAGTGCTCAATATTTTCTAGATGGAATTTGGAAACCAAACTAACACTAACAAATCCAACCAGCCATTACAATTGTAGAAAGAATTTTATATTAGCAGTCAGTTTTGGGGGGATCTACCACGGAGGACTTCCTAATTTGCTGTGTGTCTTTTAACAATTCATTTACCTTCCTGAA... | TAACTCATAATCAGCTAAGAGTTAAGAACATCAGTTAATTTTTAATGCTCTTATTAGAAAACAGTCATACCACTATGCATTCAGGTAAACTCTACACTGGGGAAAGTTGATAACCAAAAACCAAATTTTCCAAATATCTACTATTGAAGTGCTCAATATTTTCTAGATGGAATTTGGAAACCAAACTAACACTAACAAATCCAACCAGCCATTACAATTGTAGAAAGAATTTTATATTAGCAGTCAGTTTTGGGGGGATCTACCACGGAGGACTTCCTAATTTGCTGTGTGTCTTTTAACAATTCATTTACCTTCCTGAA... | pathogenic | 51,808 |
Variant in gene TTN (titin), located at chromosome 2 position 178782898: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CGGATTTAGAATCTCTGCATTTTCAGAGGCATGATATGCCTAGAAACAAATACAACAAAAAGAAACTATTGCTAGAACCTCAGAAGTTTAATGACAGTATAGTTTTTGAGGCCATGTGGTCTAAAACATTTTCCATACAACTGAGGCAAAGACACTGGGGCAAAGTATCAGAACCAGTAAGTGGCAACAGGTTTTTCAGCAAACGGACAGCACTGCTATCTCCTTGTATTTCAGTTCTTATCATGCACATAGAAACTGGAGTTGCACTTACCTTCTTCAAGCAAGGAAGCAGATGCAGAAGTTTCTCCATGCTTATTGCG... | CGGATTTAGAATCTCTGCATTTTCAGAGGCATGATATGCCTAGAAACAAATACAACAAAAAGAAACTATTGCTAGAACCTCAGAAGTTTAATGACAGTATAGTTTTTGAGGCCATGTGGTCTAAAACATTTTCCATACAACTGAGGCAAAGACACTGGGGCAAAGTATCAGAACCAGTAAGTGGCAACAGGTTTTTCAGCAAACGGACAGCACTGCTATCTCCTTGTATTTCAGTTCTTATCATGCACATAGAAACTGGAGTTGCACTTACCTTCTTCAAGCAAGGAAGCAGATGCAGAAGTTTCTCCATGCTTATTGCG... | pathogenic | 51,826 |
Variant at chromosome position 178784176, chromosome 2, gene TTN (titin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G'] | CGGTGGGGTGAGTAAATTCTACTCTAGGCTTCATGCACGTATTATACAAGTCACAGAGAACTCTATATTCAGCCATCAAAATACCTGTATCCAGTGGTTAGAGGAACACCAGATTTTTTCCAGTATACATGGGGCTTTGGGTTGCCGCCAACTTGGCATCCAAACACCACGCTCCCACCTTCCACCAGTTTCTGGACCACTGGTTTTGTAATAAAGTAAGGCGCGGCAGGTTCTCCAGGCCCTGCTTGTTCCTCTGTGAGGCTAGTATCAGTCATAACCACATCTCTTGACTCAACAAAGCTGGAAAGAGAATTCCCCTC... | CGGTGGGGTGAGTAAATTCTACTCTAGGCTTCATGCACGTATTATACAAGTCACAGAGAACTCTATATTCAGCCATCAAAATACCTGTATCCAGTGGTTAGAGGAACACCAGATTTTTTCCAGTATACATGGGGCTTTGGGTTGCCGCCAACTTGGCATCCAAACACCACGCTCCCACCTTCCACCAGTTTCTGGACCACTGGTTTTGTAATAAAGTAAGGCGCGGCAGGTTCTCCAGGCCCTGCTTGTTCCTCTGTGAGGCTAGTATCAGTCATAACCACATCTCTTGACTCAACAAAGCTGGAAAGAGAATTCCCCTC... | pathogenic | 51,849 |
The mutation in gene TTN (titin) at chromosome 2, position 178789344—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGACACAAACAATTTCATCTGCCTCGAAGGACTGCAAATACCATCTTCACTTTAGATTGCATCATCTCAGAAAAAAACATAAAATACACATGAGGCTTAGGTGAGTTAAGTTTGTCCATTTATTTTTTTCTTTTTTAAAAACTATATTGGCAATGAGCTGACTTTAATTGTATAGACATTTTAAAATGTTAACATCTTCGACAGATAACACTAAATAAATAAATATTATTTTGATTGTAGTGTGATCACATTTCCACTATATCTCATTTGAACCTTTTAGCCAGTCTGCTATGAAGTAGTCAGCTTAAGTCTTAATTTTA... | AGACACAAACAATTTCATCTGCCTCGAAGGACTGCAAATACCATCTTCACTTTAGATTGCATCATCTCAGAAAAAAACATAAAATACACATGAGGCTTAGGTGAGTTAAGTTTGTCCATTTATTTTTTTCTTTTTTAAAAACTATATTGGCAATGAGCTGACTTTAATTGTATAGACATTTTAAAATGTTAACATCTTCGACAGATAACACTAAATAAATAAATATTATTTTGATTGTAGTGTGATCACATTTCCACTATATCTCATTTGAACCTTTTAGCCAGTCTGCTATGAAGTAGTCAGCTTAAGTCTTAATTTTA... | benign | 51,885 |
Is the genetic mutation found on chromosome 2 at position 181538224, within the gene ITGA4, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_26'] | ATTACTTCTGGATAATTATTTTTTTATAATTATGGATTTCACCATCTTTCTTTCTGTATATATACATGTGTTTTTATGTAGGTATATATTTACCATTCTTCCTATCTATTCTTCCTATAACACACCTTTATCAAGCATACCCAGGAGTAATCTTCAAATCTTTTGTTATATTCTGAAACAAAAGATTGTGAGTGTTGCACTTTACCTGATACACGCTGATTTAGAAAATACAGAAACCATACCTCACTAATAACTTTAAAATCAAAGCTGTGCAAAGACTAGGGGGCCTATACTTCATATGTATTATGTACTATGTAAAA... | ATTACTTCTGGATAATTATTTTTTTATAATTATGGATTTCACCATCTTTCTTTCTGTATATATACATGTGTTTTTATGTAGGTATATATTTACCATTCTTCCTATCTATTCTTCCTATAACACACCTTTATCAAGCATACCCAGGAGTAATCTTCAAATCTTTTGTTATATTCTGAAACAAAAGATTGTGAGTGTTGCACTTTACCTGATACACGCTGATTTAGAAAATACAGAAACCATACCTCACTAATAACTTTAAAATCAAAGCTGTGCAAAGACTAGGGGGCCTATACTTCATATGTATTATGTACTATGTAAAA... | pathogenic | 52,079 |
Variant in CERKL (CERK like autophagy regulator), chromosome 2, position 181539225—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | TAGGATCATAGATGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTG... | TAGGATCATAGATGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTG... | pathogenic | 52,083 |
Does the variant impacting CERKL (CERK like autophagy regulator) on chromosome 2, position 181539237, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_26'] | TGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTGGCAGGTAGGCTA... | TGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTGGCAGGTAGGCTA... | pathogenic | 52,084 |
The mutation impacting CERKL (CERK like autophagy regulator) on chromosome 2 at position 181539237: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_26'] | TGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTGGCAGGTAGGCTA... | TGAAAAATCAAGCCCCGATTTAGAACTGTCTTCTCCAGGATGGTCTCTAAGGAAATTTACATTTGGTTCTTTCCTACTCAGAACTACTCAGAAACAACTATATATTTCAGGTTATCTGAGCACAGTGAAAGCAGAGTACTATGGTTGTCCAACACAGGCCTCTCAGATACAAGGGGAACACAATTACATATTGGGCTAGATTTTGCCCAGTTCAAAATAGTATTTGTTATCAACTTACTTTGTTACTTGTATCATGAATTTTAAAACCCTACCACTTTAAGAAGACAGGGATGGGTTATTCTTTTTTGGCAGGTAGGCTA... | pathogenic | 52,085 |
Evaluate if the mutation on chromosome 2 at position 181544703 in CERKL (CERK like autophagy regulator) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_26'] | TTTAATTTTTGAAAGTTGATAAATAAATCAGAGTTAAGGCCAGTGAATCACACACAGGCAACTGTTTCTTGTGTCAAAAGCAAGATATGCCTCGTAGAGTACATGAGAAAATATGATAAATCCTGCATAATATTATCTCTTAGAAAACGTCTTCCTATCGATACAGATTTTTATTATTTTCTGTATGTCTGTCTTTATGTGTAAGGTAACCATTGCTTTTAAAATCAGAAGAAAGGTATATTGATTTAAAAAAATGAAGAAGAAGAATGTTTACAAAAATTGCCTGAGAGACTTGCCCCATAGGCAATTTCAAAAGAGAC... | TTTAATTTTTGAAAGTTGATAAATAAATCAGAGTTAAGGCCAGTGAATCACACACAGGCAACTGTTTCTTGTGTCAAAAGCAAGATATGCCTCGTAGAGTACATGAGAAAATATGATAAATCCTGCATAATATTATCTCTTAGAAAACGTCTTCCTATCGATACAGATTTTTATTATTTTCTGTATGTCTGTCTTTATGTGTAAGGTAACCATTGCTTTTAAAATCAGAAGAAAGGTATATTGATTTAAAAAAATGAAGAAGAAGAATGTTTACAAAAATTGCCTGAGAGACTTGCCCCATAGGCAATTTCAAAAGAGAC... | pathogenic | 52,091 |
Does the variant impacting CERKL (CERK like autophagy regulator) on chromosome 2, position 181548542, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_26'] | ACTCCTTTGAAGTTTTAGCACTAGATGTAATTAATGAGGACCTTGCCATCTGGGTTTTCAATATCGAAGTTTGCAGTTTCTCTTTTTTCTTCTCTAACTTTGAATATTTCCCCGTTTATTGCCTATATTTCACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGAT... | ACTCCTTTGAAGTTTTAGCACTAGATGTAATTAATGAGGACCTTGCCATCTGGGTTTTCAATATCGAAGTTTGCAGTTTCTCTTTTTTCTTCTCTAACTTTGAATATTTCCCCGTTTATTGCCTATATTTCACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGAT... | pathogenic | 52,101 |
Variant on chromosome 2, at position 181548590, affecting CERKL (CERK like autophagy regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | TCTGGGTTTTCAATATCGAAGTTTGCAGTTTCTCTTTTTTCTTCTCTAACTTTGAATATTTCCCCGTTTATTGCCTATATTTCACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTA... | TCTGGGTTTTCAATATCGAAGTTTGCAGTTTCTCTTTTTTCTTCTCTAACTTTGAATATTTCCCCGTTTATTGCCTATATTTCACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTA... | pathogenic | 52,102 |
Regarding the variant found on chromosome 2 at position 181548673 in gene CERKL (CERK like autophagy regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_26'] | ACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAG... | ACAACACTCACGATCCTTTCTCCTACACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAG... | pathogenic | 52,106 |
Variant chromosome 2, position 181548699, gene CERKL (CERK like autophagy regulator): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa_26'] | ACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATG... | ACTCTACAGGATTGGATTCAGGAAAGAAATATTTTCAGCCCCATAATGGACAGCTGATTAAGAAGAATGTGCAAGAGAAGGAATGTCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATG... | pathogenic | 52,107 |
Clinically, how would you classify the variant at chromosome 2, position 181548784, gene CERKL (CERK like autophagy regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | TCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATGGGGGTGGGTCTTTCCTGTGCTGCTCTCATGGTAATGAATAAGTCTCATGAGATCTAATGGTTTTAAAAATAGGAGTTTCCCTGCA... | TCTATATCCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATGGGGGTGGGTCTTTCCTGTGCTGCTCTCATGGTAATGAATAAGTCTCATGAGATCTAATGGTTTTAAAAATAGGAGTTTCCCTGCA... | pathogenic | 52,109 |
Is the chromosome 2, position 181548791 variant in CERKL (CERK like autophagy regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_26'] | CCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATGGGGGTGGGTCTTTCCTGTGCTGCTCTCATGGTAATGAATAAGTCTCATGAGATCTAATGGTTTTAAAAATAGGAGTTTCCCTGCACAAGCTC... | CCCATGGATAAAAAGATATATATAAGATGTCTCATATTTTATTCAATTGAAAATGTGGGCAGGAGATTGATATGCACTACTATTCACATTAAATAGAACTGAAATGTTTCTTTTGACTAAAAGTATCTGATATGGTTTGGCTTTGTGTTCCCACTCAAATCTCATCTTGTAGCTCTCATAATTCCCATGTGTTGTGGGAGAGACCTGGTGGGAGATAACTGAATCATGGGGGTGGGTCTTTCCTGTGCTGCTCTCATGGTAATGAATAAGTCTCATGAGATCTAATGGTTTTAAAAATAGGAGTTTCCCTGCACAAGCTC... | pathogenic | 52,110 |
Regarding the variant found on chromosome 2 at position 181549679 in gene CERKL (CERK like autophagy regulator): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_26'] | CCAAGCCTCTAGGTGCCACTGAACACAGGCAAGGAATTGCCATAATGCTGACATTCAAGAACTGACCCTGGATCATTTGCCATTGATCATTACAGTCTAAAGGTAATGAAAGTGATTGGTTATTTTCCCTCACCAGAACAAAATGTCAACAGAACCTGGCACAGTTCTCAAGGAGATACTTTTCGACTCACCAGATTTGGGAGATCCCTGTGCCCTCCTAAAAGAAAGAAAACAAAACAAAGACATAAAACAGATAACGCGCGCACAGACACACAGACACACACAAATCTATTAAATATGAGAAAATTAGAGAACTCATC... | CCAAGCCTCTAGGTGCCACTGAACACAGGCAAGGAATTGCCATAATGCTGACATTCAAGAACTGACCCTGGATCATTTGCCATTGATCATTACAGTCTAAAGGTAATGAAAGTGATTGGTTATTTTCCCTCACCAGAACAAAATGTCAACAGAACCTGGCACAGTTCTCAAGGAGATACTTTTCGACTCACCAGATTTGGGAGATCCCTGTGCCCTCCTAAAAGAAAGAAAACAAAACAAAGACATAAAACAGATAACGCGCGCACAGACACACAGACACACACAAATCTATTAAATATGAGAAAATTAGAGAACTCATC... | pathogenic | 52,119 |
Variant in gene CERKL (CERK like autophagy regulator), located at chromosome 2 position 181558605: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_26'] | TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTC... | TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTC... | pathogenic | 52,122 |
For chromosome 2, position 181558627, gene CERKL (CERK like autophagy regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_26'] | TTTTTTATGGCTGCATAGTATTCCATGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCA... | TTTTTTATGGCTGCATAGTATTCCATGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCA... | pathogenic | 52,125 |
Variant on chromosome 2, at position 181565495, affecting CERKL (CERK like autophagy regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_26'] | TTCTTCAGCCTGTATCTAGAAACCAAACTGTTAGGTGATTTCCTAATCACTCCCTATTAATAGTTCCACTAGTGTCAGACGGAGGTGCTTCAGGCCAAAGTTCTTAAAGAAATTTGAGTCTGTCTCTCATCAAAATGCCATAGCATTTTGGGGTTAACCTTCTCTCATCTCTGCACCTTTTCTATAAATTTCCCCCAAAATTTTCCTTTAGCCACTCTTTAGAACAGGTTCAGGAATAGAAAACTCACCAATGTAGAATATTCCATTTTCAAACAATTTTACTTGCAAGAGAATTGTTCCTTTGAAGTACCTGAAGAAAC... | TTCTTCAGCCTGTATCTAGAAACCAAACTGTTAGGTGATTTCCTAATCACTCCCTATTAATAGTTCCACTAGTGTCAGACGGAGGTGCTTCAGGCCAAAGTTCTTAAAGAAATTTGAGTCTGTCTCTCATCAAAATGCCATAGCATTTTGGGGTTAACCTTCTCTCATCTCTGCACCTTTTCTATAAATTTCCCCCAAAATTTTCCTTTAGCCACTCTTTAGAACAGGTTCAGGAATAGAAAACTCACCAATGTAGAATATTCCATTTTCAAACAATTTTACTTGCAAGAGAATTGTTCCTTTGAAGTACCTGAAGAAAC... | pathogenic | 52,131 |
A genetic variant at chromosome 2, position 181566089, affecting gene CERKL (CERK like autophagy regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | TTAGATTCTCATCAAGAGCACGCAACCTAGATCCCTCGCATGACCAGTTATATCCCTCGCGTGCCCAGTTCACAATAGGGTTCGCACTCCTGTGAGAATCTAATGCTGCTGCTGACCTGACAGGAGGTGGAGCTCAGGCGGAAATGATCCCTCTCCTGCCACTCACCTCCTACTGTGCCTCCCAGTTCCTAAAAGGCCACTGACTGATATTCATCTGCAGTCTCGGAGTTGGGGACCCCTGATTTAAAGAGTCTTAGAACACGGAAGATGACTTTCAGTAGAAATTTGAAATTATTGTAAGTCTGAAATAAATCAGCATG... | TTAGATTCTCATCAAGAGCACGCAACCTAGATCCCTCGCATGACCAGTTATATCCCTCGCGTGCCCAGTTCACAATAGGGTTCGCACTCCTGTGAGAATCTAATGCTGCTGCTGACCTGACAGGAGGTGGAGCTCAGGCGGAAATGATCCCTCTCCTGCCACTCACCTCCTACTGTGCCTCCCAGTTCCTAAAAGGCCACTGACTGATATTCATCTGCAGTCTCGGAGTTGGGGACCCCTGATTTAAAGAGTCTTAGAACACGGAAGATGACTTTCAGTAGAAATTTGAAATTATTGTAAGTCTGAAATAAATCAGCATG... | pathogenic | 52,134 |
For chromosome 2, position 181573797, gene CERKL (CERK like autophagy regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_26'] | CATTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATG... | CATTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATG... | pathogenic | 52,136 |
A genetic variant at chromosome 2, position 181573797, affecting gene CERKL (CERK like autophagy regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | CATTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATG... | CATTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATG... | pathogenic | 52,137 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 181573799, gene CERKL (CERK like autophagy regulator). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_26'] | TTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATGTA... | TTTCAGTCATCAGGAAAAGGGGATCTGTCCTCAGCCCCTGGGAAGAGTCTTGATGGTTAAATAAATGATTATTCCAGATTGACTGCGCTAATACAGTATCTGTGCCCAAACTTAAAAAAGGAAATTTTAATTCATCTTCAGGATTAAAGCATGTTGGGTCTCTCTTGCACACATATGCACACCTCTCCCCATCCCACTGGATATTAATAAGAAAGGATGAAATTCACTGGCAGCTATTTTATGATGATAGAGTAAGATTTCAGATAATGTAAAAACTGAGGAAAGTAGAGCAAAGTTATGGCACAAACTCTCCAGATGTA... | pathogenic | 52,138 |
A genetic variant at chromosome 2, position 181603866, affecting gene CERKL (CERK like autophagy regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_26'] | ATGAGTTGATTTTAAAAGTCAATCTATTTGCTTTTAATCAGCAAAATCACTCTGTACTCAAAGACCATGCCAGAGAATGACTCCCTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGC... | ATGAGTTGATTTTAAAAGTCAATCTATTTGCTTTTAATCAGCAAAATCACTCTGTACTCAAAGACCATGCCAGAGAATGACTCCCTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGC... | pathogenic | 52,143 |
Mutation at chromosome 2, position 181603916, within CERKL (CERK like autophagy regulator): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinitis_pigmentosa_26'] | TCTGTACTCAAAGACCATGCCAGAGAATGACTCCCTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAG... | TCTGTACTCAAAGACCATGCCAGAGAATGACTCCCTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAG... | pathogenic | 52,144 |
Is the genetic change at chromosome 2, position 181603950, within gene CERKL (CERK like autophagy regulator) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_26'] | CTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTC... | CTGAGTGCCTCCAGCTCTTATCAAAATCAAAGTTTCAAAAAGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTC... | pathogenic | 52,146 |
The genetic variant at chromosome 2, position 181603990, affecting gene CERKL (CERK like autophagy regulator): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_26'] | AGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGC... | AGTAACATTTTCAGAGGATGGTAGACTAAAGGATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGC... | pathogenic | 52,149 |
A genetic variant on chromosome 2, position 181604022, affects the gene CERKL (CERK like autophagy regulator). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_26'] | ATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGCAAGAATGAGCTTTGACTCTCCTAATTAAATGA... | ATATGTAGTTTATTCATCTCTGTAATTTGTCTAGATTTTAACCCTAGATCAAACAAAAACATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGCAAGAATGAGCTTTGACTCTCCTAATTAAATGA... | pathogenic | 52,152 |
Does the variant impacting CERKL (CERK like autophagy regulator) on chromosome 2, position 181604082, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGCAAGAATGAGCTTTGACTCTCCTAATTAAATGACATATCCTTATTTTATAGACAAGACCATGCAAGTTTTATGTATTCCTGGTCATGTTAATC... | ATCACTCATTAAGCTGAATAAATATTTGGACATTGTTTTTTGTTGTTGTTTTTGTTTTTGACAAGTCCCTCTACTCCTATAAAATTGCTTTTACTGAATTGAGCTTTGTTGTGATGTCCTCTGCTTCTTACTTTCTCTTGGTTTTATGGCTGAGATATATTGAGGAAGTTGCCTCAGTGTAGCCCTTCATAAGCCCCATGGGAGAAGAGTTCCTCAGACCTTAAGCGCAAGAATGAGCTTTGACTCTCCTAATTAAATGACATATCCTTATTTTATAGACAAGACCATGCAAGTTTTATGTATTCCTGGTCATGTTAATC... | benign | 52,156 |
For chromosome 2, position 181656755, gene CERKL: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cone-rod_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_26'] | CAACAACAGAGCATTTCTAACATTTAAATATATCATCTCTTAATATCTCCTTCTTATTTCCCAGTGTTTGTTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCC... | CAACAACAGAGCATTTCTAACATTTAAATATATCATCTCTTAATATCTCCTTCTTATTTCCCAGTGTTTGTTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCC... | pathogenic | 52,159 |
Regarding the variant found on chromosome 2 at position 181656784 in gene CERKL: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_26'] | ATATCATCTCTTAATATCTCCTTCTTATTTCCCAGTGTTTGTTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATA... | ATATCATCTCTTAATATCTCCTTCTTATTTCCCAGTGTTTGTTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATA... | pathogenic | 52,161 |
The mutation impacting CERKL (CERK like autophagy regulator) on chromosome 2 at position 181656850: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_26'] | GAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAG... | GAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAG... | pathogenic | 52,164 |
The genetic variant at chromosome 2, position 181656913, affecting gene CERKL (CERK like autophagy regulator): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_26'] | ACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTAT... | ACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTAT... | pathogenic | 52,169 |
For chromosome 2, position 188984745, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TAAAATACACATTATTAATGGGAAAATCTTGGGCTGAAACTAATCTGTAGGAATATTTCATATAAAGTTGATTTGGAGAAAATTTTTAAGTGGTTCATTTTGAGAAAAGGAACCAATGTAATTACAGTGTTCCATGTAATTTTACTGCACAATCTTCCAAACCCAAATTTTCGGACCTTTTCTGCAGACTGGTGAACTTAGTACTTAAATATGAAACGCCAGTTCTGTCTAGAGAACAAAATGAGTTTAATGCATAGACTCACCTGTTATTACTCTTCACACCAATGTGTAAATGACTGTTTGCTCTTCTATTAAATATA... | TAAAATACACATTATTAATGGGAAAATCTTGGGCTGAAACTAATCTGTAGGAATATTTCATATAAAGTTGATTTGGAGAAAATTTTTAAGTGGTTCATTTTGAGAAAAGGAACCAATGTAATTACAGTGTTCCATGTAATTTTACTGCACAATCTTCCAAACCCAAATTTTCGGACCTTTTCTGCAGACTGGTGAACTTAGTACTTAAATATGAAACGCCAGTTCTGTCTAGAGAACAAAATGAGTTTAATGCATAGACTCACCTGTTATTACTCTTCACACCAATGTGTAAATGACTGTTTGCTCTTCTATTAAATATA... | benign | 52,243 |
Chromosome 2, position 188984751, gene COL3A1 (collagen type III alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACACATTATTAATGGGAAAATCTTGGGCTGAAACTAATCTGTAGGAATATTTCATATAAAGTTGATTTGGAGAAAATTTTTAAGTGGTTCATTTTGAGAAAAGGAACCAATGTAATTACAGTGTTCCATGTAATTTTACTGCACAATCTTCCAAACCCAAATTTTCGGACCTTTTCTGCAGACTGGTGAACTTAGTACTTAAATATGAAACGCCAGTTCTGTCTAGAGAACAAAATGAGTTTAATGCATAGACTCACCTGTTATTACTCTTCACACCAATGTGTAAATGACTGTTTGCTCTTCTATTAAATATATTTTCC... | ACACATTATTAATGGGAAAATCTTGGGCTGAAACTAATCTGTAGGAATATTTCATATAAAGTTGATTTGGAGAAAATTTTTAAGTGGTTCATTTTGAGAAAAGGAACCAATGTAATTACAGTGTTCCATGTAATTTTACTGCACAATCTTCCAAACCCAAATTTTCGGACCTTTTCTGCAGACTGGTGAACTTAGTACTTAAATATGAAACGCCAGTTCTGTCTAGAGAACAAAATGAGTTTAATGCATAGACTCACCTGTTATTACTCTTCACACCAATGTGTAAATGACTGTTTGCTCTTCTATTAAATATATTTTCC... | benign | 52,245 |
Chromosome 2, position 188985738, gene COL3A1 (collagen type III alpha 1 chain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | TCTTGGCTTTGAGAAAATAAAAATTTCACCATCTCACAAAAATATAAATTACTGAACAGTACATCATTTGTTGTTTGCAAAAATTTTTGCAGATGCTTAGAAACTTATTATTTATTTACTCAATTACTGGCAAACTATCATACTAATTGTCAAGAACTAAAGTTGTATTTAACCACAATACACAGCTAATGCCTTAAGAATTGAGACCAGGTTTTGTTTTGGCAATTCCTAAGCTGATTCATAGTTAATAGCTGCTGAAATTTCAGTACCTTGTATATAATTATGAAGCAAGTCTAAAATTTTGGTTGAAGCAATTTTTT... | TCTTGGCTTTGAGAAAATAAAAATTTCACCATCTCACAAAAATATAAATTACTGAACAGTACATCATTTGTTGTTTGCAAAAATTTTTGCAGATGCTTAGAAACTTATTATTTATTTACTCAATTACTGGCAAACTATCATACTAATTGTCAAGAACTAAAGTTGTATTTAACCACAATACACAGCTAATGCCTTAAGAATTGAGACCAGGTTTTGTTTTGGCAATTCCTAAGCTGATTCATAGTTAATAGCTGCTGAAATTTCAGTACCTTGTATATAATTATGAAGCAAGTCTAAAATTTTGGTTGAAGCAATTTTTT... | pathogenic | 52,270 |
A genetic variant on chromosome 2, position 188988106, affects the gene COL3A1 (collagen type III alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4'] | AAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATT... | AAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATT... | pathogenic | 52,290 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 188991707, gene COL3A1 (collagen type III alpha 1 chain). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ehlers-Danlos_syndrome,_type_4', 'Familial_aortopathy'] | CCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTACCAAGAAAGCTGATCTCAACTATACATTTT... | CCTTAAAGTGCTTTTTGACTGCGGAGAAGACTCATCCATTGAATATATTATTTAACTGGAGGAGAAATAGGTGTCTCTGCCTGCCTCTTTTAATGATGAAATTGATACCACTATTTAATGAACTTGAGAAGTTATAGATACCTTCAATTCAATGGCATTCCTTCTTTCCCTCTTAATCTCCAATGGCAAATTCTTTTCACTGGCTTATGTTATTTCAGTGATTAGAAGCACCTGCATTATCTCTTTATAAGCTTATATCAAAGTGGGAAAGGTCTTCCTCATGCCTTCTACCAAGAAAGCTGATCTCAACTATACATTTT... | pathogenic | 52,358 |
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