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 |
|---|---|---|---|---|---|
Assess the variant on chromosome 2, position 168927335, impacting ABCB11 (ATP binding cassette subfamily B member 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | GTTCATGAACAAATTATTTAAATTTTTTTGAGCTGGCTAGGCATCTGAGGTGCAGTATTAACACTTACTTCACATATTTATTGTGAGTTTTAGAGAAAATTAGGAAGAAAAAATCACTCATGCCTGGCATGGCTACATAAAAATTAGTTAACATTCATAGAGTGTTTACCATAGAGGTATTGTGCTAACTATTCTAGCTAGGGTATCATTTAATATTCACAGAAACCATACCCACACTATTTTTTAGATTACAAAACTTAGGCACAGGGAGGTAAGAAAATGGTGCGAGGACAAGTAACAAGCAGTGAAAGTGAAATCTG... | GTTCATGAACAAATTATTTAAATTTTTTTGAGCTGGCTAGGCATCTGAGGTGCAGTATTAACACTTACTTCACATATTTATTGTGAGTTTTAGAGAAAATTAGGAAGAAAAAATCACTCATGCCTGGCATGGCTACATAAAAATTAGTTAACATTCATAGAGTGTTTACCATAGAGGTATTGTGCTAACTATTCTAGCTAGGGTATCATTTAATATTCACAGAAACCATACCCACACTATTTTTTAGATTACAAAACTTAGGCACAGGGAGGTAAGAAAATGGTGCGAGGACAAGTAACAAGCAGTGAAAGTGAAATCTG... | pathogenic | 45,984 |
Does the genetic variant at chromosome 2, position 168932375, impacting gene ABCB11 (ATP binding cassette subfamily B member 11), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | TGGTCATTAGTTTCCTGATTAGTCTGCACTTTCTGCTCCATTTACGGGTAAGTGAGTGCTTCTATTAAATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAA... | TGGTCATTAGTTTCCTGATTAGTCTGCACTTTCTGCTCCATTTACGGGTAAGTGAGTGCTTCTATTAAATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAA... | pathogenic | 45,994 |
Classify the chromosome 2 variant at position 168932415 affecting gene ABCB11 (ATP binding cassette subfamily B member 11) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | TTTACGGGTAAGTGAGTGCTTCTATTAAATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCA... | TTTACGGGTAAGTGAGTGCTTCTATTAAATACACTCATCTCCAGCTTTGCAGTGTGCCCAGTTTTCTTTGCCTAACTGGTCAGCAGGCCATCTGGAACTGGGGAAAATCTGACATTAGAAATTGTGAGGTAGAATCAGGTGAAGCAGCAAATGACTGGGACTGGAAAATATGCATGGGGTAAGTGCCTTAGGCAAGCATTTTAAAGTGAGTCTGGCAAAGCAAAAACTTGAAGCCCACTTTTAGGGGTTGGAAATACTCTGCAGAAGGCAAAATTCTCAAAAAGGTTGCGTGGCTTACCACCTTCCCTTGATCAGGATCA... | pathogenic | 45,995 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 168936256, gene ABCB11: what disease(s) if pathogenic? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | CAAAGATTTAGAAAAGAGACACTTTCCTAGCTGGGTGGGTGTAGTGGAGTGGGAGAGAAGTGCTGAAAGAGATACCAGGTGAGAAGGCGGGACTCATGGCTAGAGAAGGAAACCCAAGAACCGATTCCTATAGGACCACTTTTCCTAATGCCCTCCAAACCTTTCTCAGACCATCTCCACCCTTACCCCCCGACTCGCCCATATACATGTGTACCTCGTTCCCCAGTACCCTGACACCCTTAGGCTTTCACCTCTGGAAATGTGAGAAATTGGACTAAAAGCTAATCTTATTAGAAAAGCAGGCTTTGGCTATACGAATG... | CAAAGATTTAGAAAAGAGACACTTTCCTAGCTGGGTGGGTGTAGTGGAGTGGGAGAGAAGTGCTGAAAGAGATACCAGGTGAGAAGGCGGGACTCATGGCTAGAGAAGGAAACCCAAGAACCGATTCCTATAGGACCACTTTTCCTAATGCCCTCCAAACCTTTCTCAGACCATCTCCACCCTTACCCCCCGACTCGCCCATATACATGTGTACCTCGTTCCCCAGTACCCTGACACCCTTAGGCTTTCACCTCTGGAAATGTGAGAAATTGGACTAAAAGCTAATCTTATTAGAAAAGCAGGCTTTGGCTATACGAATG... | pathogenic | 46,019 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 168944672, gene ABCB11 (ATP binding cassette subfamily B member 11): what disease(s) if pathogenic? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | GTAACACAAAGGATAAGTGCTTGAGGGAATGGATACCTCATTCTTCATAATGCACTTACTTCACATTGCATGCTTGTATCAAAACCTCTCATGTACCCCATAAATATATACACCTACTTGGTATCTATCTACAAAAATTAAAAAAAATTATCAACTAAAACAATAAGGTTTTAAATAGAATAAGTCAAATTGATCAATTCAGACTAGAGAATCTCCAAAGTTAGTTCTAAGTATATATGGGAAGTTAATATTCACAATGGGAGGAAACATTTCAAACCAGTAGAAAATGTAATCTATATTTAAAAAATATTTTTGAAATA... | GTAACACAAAGGATAAGTGCTTGAGGGAATGGATACCTCATTCTTCATAATGCACTTACTTCACATTGCATGCTTGTATCAAAACCTCTCATGTACCCCATAAATATATACACCTACTTGGTATCTATCTACAAAAATTAAAAAAAATTATCAACTAAAACAATAAGGTTTTAAATAGAATAAGTCAAATTGATCAATTCAGACTAGAGAATCTCCAAAGTTAGTTCTAAGTATATATGGGAAGTTAATATTCACAATGGGAGGAAACATTTCAAACCAGTAGAAAATGTAATCTATATTTAAAAAATATTTTTGAAATA... | pathogenic | 46,024 |
A mutation at chromosome position 168944726 on chromosome 2 in gene ABCB11 (ATP binding cassette subfamily B member 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | CTTACTTCACATTGCATGCTTGTATCAAAACCTCTCATGTACCCCATAAATATATACACCTACTTGGTATCTATCTACAAAAATTAAAAAAAATTATCAACTAAAACAATAAGGTTTTAAATAGAATAAGTCAAATTGATCAATTCAGACTAGAGAATCTCCAAAGTTAGTTCTAAGTATATATGGGAAGTTAATATTCACAATGGGAGGAAACATTTCAAACCAGTAGAAAATGTAATCTATATTTAAAAAATATTTTTGAAATATTTTCTATCCAACTTCAAGAAAACAAAGCCAAATCTACCTCACACTAATCTTAA... | CTTACTTCACATTGCATGCTTGTATCAAAACCTCTCATGTACCCCATAAATATATACACCTACTTGGTATCTATCTACAAAAATTAAAAAAAATTATCAACTAAAACAATAAGGTTTTAAATAGAATAAGTCAAATTGATCAATTCAGACTAGAGAATCTCCAAAGTTAGTTCTAAGTATATATGGGAAGTTAATATTCACAATGGGAGGAAACATTTCAAACCAGTAGAAAATGTAATCTATATTTAAAAAATATTTTTGAAATATTTTCTATCCAACTTCAAGAAAACAAAGCCAAATCTACCTCACACTAATCTTAA... | pathogenic | 46,026 |
The chromosome 2, position 168957987 genetic variant in gene ABCB11 (ATP binding cassette subfamily B member 11): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['ABCB11-related_disorder', 'Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | TTAAATCTTAAAGCTCCAAAATAATCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACC... | TTAAATCTTAAAGCTCCAAAATAATCTTTTTTGACACCTTGTCTCACATCCAGGCCACACTGATGCTGAGATTGAGTAATTTATGAAGAAAAAAGGTTTAATTGGTTCACAGTTCCACATGGCTGAGGAGGTCTCAGGAAACTTACAATCATGGCAGAAGGTGAAGGGGAAGCAAGGCATGTCTTCACATGGCCAAACCAGGAGGAAGAGAGAGCGAAAGGGGAAGACTACAAAGTTTTAAACAACCAGATCTCGTGAGAACTCACTCACTATCACAAGAATAGCAAGGGGGAAATCCACCCACCCATGATCCAATTACC... | pathogenic | 46,035 |
For chromosome 2, position 168964227, gene ABCB11 (ATP binding cassette subfamily B member 11): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | ATAATCACATTGGCTCTCCTATCATTTTTTCTCTCTTCTTCCTTTCTATCTCCCTTAACTAGAGAGAACGTAAAGTCACATCTTTTAAAACGTATGCTGGCCTACATATAACTGAGTTTAATTGTTCTATTCTAAATGTATAATGCTGACTAGTAGAACATAATATGAAACATTTTAATCTCTGTAAAACTAGACCGTATATTAGATTTAGATTTCCTTTTAGTTAAATGGTTCCCTCCTGAATTGTTCCTGCATCAAGAGAACTCTATGGGAATCTGATCTCCAGATGTCCAGGGAATCTGATGGTCCCCTACACCTAC... | ATAATCACATTGGCTCTCCTATCATTTTTTCTCTCTTCTTCCTTTCTATCTCCCTTAACTAGAGAGAACGTAAAGTCACATCTTTTAAAACGTATGCTGGCCTACATATAACTGAGTTTAATTGTTCTATTCTAAATGTATAATGCTGACTAGTAGAACATAATATGAAACATTTTAATCTCTGTAAAACTAGACCGTATATTAGATTTAGATTTCCTTTTAGTTAAATGGTTCCCTCCTGAATTGTTCCTGCATCAAGAGAACTCTATGGGAATCTGATCTCCAGATGTCCAGGGAATCTGATGGTCCCCTACACCTAC... | pathogenic | 46,046 |
Determine whether the variant at chromosome 2, position 168969393, in gene ABCB11 (ATP binding cassette subfamily B member 11) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | CTCAAGAAGAAAGATAGGAAAACCCAAGTCTGAAAATTCAAACTGATAAGGAAAAGATATACTAGGGCCTGAAGTATTTATCTACATCTGAAAATAAATACACTACTTTTTGTGAGCTATTCTTTGAATATTTAAATGAATAAATCTGCGTTTGAACTACTTGGAATTGTTAGCTGAATGTTTTAAGGCTCTTTAACAACTTTTCAATAAATAATTATCCATCTTGAATGAGCAAGTCTTATCTCTGCGACTTTGCACAGCCTTGCATTAAATGTCCTAGAAATGGAAATGGCAATCATAGAGATATTGCTACCATCTCA... | CTCAAGAAGAAAGATAGGAAAACCCAAGTCTGAAAATTCAAACTGATAAGGAAAAGATATACTAGGGCCTGAAGTATTTATCTACATCTGAAAATAAATACACTACTTTTTGTGAGCTATTCTTTGAATATTTAAATGAATAAATCTGCGTTTGAACTACTTGGAATTGTTAGCTGAATGTTTTAAGGCTCTTTAACAACTTTTCAATAAATAATTATCCATCTTGAATGAGCAAGTCTTATCTCTGCGACTTTGCACAGCCTTGCATTAAATGTCCTAGAAATGGAAATGGCAATCATAGAGATATTGCTACCATCTCA... | pathogenic | 46,057 |
Gene mutation in ABCB11 (ATP binding cassette subfamily B member 11) at chromosome 2, position 168969419—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | AGTCTGAAAATTCAAACTGATAAGGAAAAGATATACTAGGGCCTGAAGTATTTATCTACATCTGAAAATAAATACACTACTTTTTGTGAGCTATTCTTTGAATATTTAAATGAATAAATCTGCGTTTGAACTACTTGGAATTGTTAGCTGAATGTTTTAAGGCTCTTTAACAACTTTTCAATAAATAATTATCCATCTTGAATGAGCAAGTCTTATCTCTGCGACTTTGCACAGCCTTGCATTAAATGTCCTAGAAATGGAAATGGCAATCATAGAGATATTGCTACCATCTCATTGCCTTTTAAAAATCTTCTGACTTA... | AGTCTGAAAATTCAAACTGATAAGGAAAAGATATACTAGGGCCTGAAGTATTTATCTACATCTGAAAATAAATACACTACTTTTTGTGAGCTATTCTTTGAATATTTAAATGAATAAATCTGCGTTTGAACTACTTGGAATTGTTAGCTGAATGTTTTAAGGCTCTTTAACAACTTTTCAATAAATAATTATCCATCTTGAATGAGCAAGTCTTATCTCTGCGACTTTGCACAGCCTTGCATTAAATGTCCTAGAAATGGAAATGGCAATCATAGAGATATTGCTACCATCTCATTGCCTTTTAAAAATCTTCTGACTTA... | pathogenic | 46,059 |
Regarding the variant at chromosome 2 and position 168970064, affecting gene ABCB11 (ATP binding cassette subfamily B member 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | ATTCAGTTGCAGCTCAGTAGATTAAAGAGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGT... | ATTCAGTTGCAGCTCAGTAGATTAAAGAGTGGAGCTAAAGGCATGAATTTGACCTTCACGTAAGACAGTGTTTCATACCACAGTTAGCTTGGAGCAGAGGAACACTAAACACAGATTTTTTTTAAAAGAAGTCCCCTTTCTAAGCTCAATACACAACAATTTTAACCATAAAGCATCTCCATTGTAACCCTTATCCCCAAGAAGATGAGAAGCTAACCAAAAACCCATGAATTGGGGAGAGAAATGTCAATATAGCAACCAAGGATCACTTGCATGTTCATATTTGACAAGACCTGGCAGTCTACTCAGAGTTTCCTTGT... | pathogenic | 46,066 |
The mutation impacting ABCB11 (ATP binding cassette subfamily B member 11) on chromosome 2 at position 168973731: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | AGATGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCT... | AGATGAAAGGAAACACTCATGGTACTTTTTCAGGCATGAAACTAAAACATGGCTTAAGAATTTAATGACTTGGGAATCATACGAGAAGAAATGTGTATAATTGTGCAACTTTTTTTCCTTCTATGACCTCTTAGTTTCTCCCAGGAATGTATGGCTAGGGGTACCTGTGGCAGGTCCATGATGAAGTTGTAGGCATTGGCCTCCTTGGCAGCTTGGACTATGTCTTCCATTGTTGCATCTTCTCTGCCATAGCGAATATTTTCTGCAATGGTGGTAGAGAACAGAACTGGCTCTTGCTCCACTATCCCAATCTGATCTCT... | pathogenic | 46,093 |
Chromosome 2, position 168979930, gene ABCB11 (ATP binding cassette subfamily B member 11): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | GGTCTGTCCCTCGACACATGGGGATTACAGTTCAAGATAAGATTTGGGTGGGGACATAAAGCCAAACCATATCAATCACTTTAGCTCTATTGAGGAGTATAATGTAATCTACCTCCTTACTGGGTTGCTAATAAAGGTAAGAAATAATTTTTAAATGCCTTAATTTTTTAGTTTCAGGGCACTTTTAGAGTCATCATCTTATTTGAGCATATAACAATCTTAAGAAAGAGGTAGAATTTGAATAAATTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAGGGTTTCACTCTGTCACCCAGGCCAGAGTGCA... | GGTCTGTCCCTCGACACATGGGGATTACAGTTCAAGATAAGATTTGGGTGGGGACATAAAGCCAAACCATATCAATCACTTTAGCTCTATTGAGGAGTATAATGTAATCTACCTCCTTACTGGGTTGCTAATAAAGGTAAGAAATAATTTTTAAATGCCTTAATTTTTTAGTTTCAGGGCACTTTTAGAGTCATCATCTTATTTGAGCATATAACAATCTTAAGAAAGAGGTAGAATTTGAATAAATTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAGGGTTTCACTCTGTCACCCAGGCCAGAGTGCA... | pathogenic | 46,110 |
Assess the variant on chromosome 2, position 168979990, impacting ABCB11 (ATP binding cassette subfamily B member 11): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GCCAAACCATATCAATCACTTTAGCTCTATTGAGGAGTATAATGTAATCTACCTCCTTACTGGGTTGCTAATAAAGGTAAGAAATAATTTTTAAATGCCTTAATTTTTTAGTTTCAGGGCACTTTTAGAGTCATCATCTTATTTGAGCATATAACAATCTTAAGAAAGAGGTAGAATTTGAATAAATTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAGGGTTTCACTCTGTCACCCAGGCCAGAGTGCAGTAGTGTGATCATAGCTCACTGCATCTTCAAACTCCTGGGCTTAGGCCATCCTCCCATAT... | GCCAAACCATATCAATCACTTTAGCTCTATTGAGGAGTATAATGTAATCTACCTCCTTACTGGGTTGCTAATAAAGGTAAGAAATAATTTTTAAATGCCTTAATTTTTTAGTTTCAGGGCACTTTTAGAGTCATCATCTTATTTGAGCATATAACAATCTTAAGAAAGAGGTAGAATTTGAATAAATTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGACAGGGTTTCACTCTGTCACCCAGGCCAGAGTGCAGTAGTGTGATCATAGCTCACTGCATCTTCAAACTCCTGGGCTTAGGCCATCCTCCCATAT... | benign | 46,112 |
Is the chromosome 2, position 168986163 variant in ABCB11 (ATP binding cassette subfamily B member 11) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | GTTGCAACAAGAGAGAGCCATAAGCTAAGGAGGAAAGGCCTTGGGAGAGGGAGCAGGATAAGAAGCCTTCCTGGACCCCCGCCACACCTGGTTATCCTGCTATTCACTGTCAAGGTTCTCTGTCCTCTATAGCATGTCTCTATTTGTCTGTATTCATTTACATGGTTACTTATTTATTGCTTGTCTTCTCCATTAAAGTGTAAATCCCATCAAGGCAAAAAAACAAAAACAAAAACAAAACCACATTTCCGTTGCTCACTGTTGAATCCCCTGCATTTTCTAAGTGTCTGGCACATAGTAGATGCTGAATAATTACTTAT... | GTTGCAACAAGAGAGAGCCATAAGCTAAGGAGGAAAGGCCTTGGGAGAGGGAGCAGGATAAGAAGCCTTCCTGGACCCCCGCCACACCTGGTTATCCTGCTATTCACTGTCAAGGTTCTCTGTCCTCTATAGCATGTCTCTATTTGTCTGTATTCATTTACATGGTTACTTATTTATTGCTTGTCTTCTCCATTAAAGTGTAAATCCCATCAAGGCAAAAAAACAAAAACAAAAACAAAACCACATTTCCGTTGCTCACTGTTGAATCCCCTGCATTTTCTAAGTGTCTGGCACATAGTAGATGCTGAATAATTACTTAT... | pathogenic | 46,116 |
Does the variant impacting ABCB11 (ATP binding cassette subfamily B member 11) on chromosome 2, position 168986232, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ABCB11-related_disorder', 'Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | CCTGGACCCCCGCCACACCTGGTTATCCTGCTATTCACTGTCAAGGTTCTCTGTCCTCTATAGCATGTCTCTATTTGTCTGTATTCATTTACATGGTTACTTATTTATTGCTTGTCTTCTCCATTAAAGTGTAAATCCCATCAAGGCAAAAAAACAAAAACAAAAACAAAACCACATTTCCGTTGCTCACTGTTGAATCCCCTGCATTTTCTAAGTGTCTGGCACATAGTAGATGCTGAATAATTACTTATTGAATGAATAACTGTAAAGACAATGAAAATTAAAGGCATTAGCTACTTTAGCACAAGTGAGCAATAAAG... | CCTGGACCCCCGCCACACCTGGTTATCCTGCTATTCACTGTCAAGGTTCTCTGTCCTCTATAGCATGTCTCTATTTGTCTGTATTCATTTACATGGTTACTTATTTATTGCTTGTCTTCTCCATTAAAGTGTAAATCCCATCAAGGCAAAAAAACAAAAACAAAAACAAAACCACATTTCCGTTGCTCACTGTTGAATCCCCTGCATTTTCTAAGTGTCTGGCACATAGTAGATGCTGAATAATTACTTATTGAATGAATAACTGTAAAGACAATGAAAATTAAAGGCATTAGCTACTTTAGCACAAGTGAGCAATAAAG... | pathogenic | 46,118 |
A genetic variant on chromosome 2, position 168990824, affects the gene ABCB11 (ATP binding cassette subfamily B member 11). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2'] | GATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCACTCTGT... | GATATCTTTCTTCTTTTTATAATGGCCATTCTTACAGGTATAAGATGATATCTCATTGTGGTTTTGACTTGTGTTTCCTTGATGATTAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCACTCTGT... | pathogenic | 46,130 |
Is the genetic change at chromosome 2, position 168990910, within gene ABCB11 (ATP binding cassette subfamily B member 11) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | TAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCACTCTGTTGATTGCTTCCTTTTTGAAGCTTTTTAGTTTGATGTAATCCCATCTGTCTATTTTTGCTTTTGTTACCTGTCCTTTTGGGGTTGTG... | TAGTGATGTGTGACATCTTTTCACATGCCTGTTGTATGTTTCTTTTTGTACGTTTCTATTTGTATGTTTTCTTCTGAGAAATGTCTATTCAGGTCTTTTGACCACTTTTTAATCAGGTTGTTTTCTTGTCATTGAGTTGTTTGTGTTTCTTATATGTATTGGATATTAACCCCTTATCAGATGTATGGGTTACAAATATTTTCTCTCATTCTATAAATTGCCTCTTCACTCTGTTGATTGCTTCCTTTTTGAAGCTTTTTAGTTTGATGTAATCCCATCTGTCTATTTTTGCTTTTGTTACCTGTCCTTTTGGGGTTGTG... | pathogenic | 46,133 |
Mutation at chromosome 2, position 168993798, within ABCB11 (ATP binding cassette subfamily B member 11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Progressive_familial_intrahepatic_cholestasis_type_2'] | AGTTTTTAAAAACAATATATTAATTTCATCAGTGTACATTTTATAAAACATGTGAATTAAACATGTAACAGTAAGGAAAGTGAGGCTTTTTTTTTTTTTTTTTAAAGAGACGGGTTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGGCATGATCCTAGCTCACTGCAGTCTCAAACTCCTGTACTCAAGCATTTCACTGGCCTCAGCCTCCTGGGTATCCGAGACTATAGGCACATGCCACCATGCCTGGCTATTTAAAAAAAATTTTTTTTTTTTTTTTTGTAGAGATGGGATCTCACTGTGTTACCAAGACTGGAAG... | AGTTTTTAAAAACAATATATTAATTTCATCAGTGTACATTTTATAAAACATGTGAATTAAACATGTAACAGTAAGGAAAGTGAGGCTTTTTTTTTTTTTTTTTAAAGAGACGGGTTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGGCATGATCCTAGCTCACTGCAGTCTCAAACTCCTGTACTCAAGCATTTCACTGGCCTCAGCCTCCTGGGTATCCGAGACTATAGGCACATGCCACCATGCCTGGCTATTTAAAAAAAATTTTTTTTTTTTTTTTTGTAGAGATGGGATCTCACTGTGTTACCAAGACTGGAAG... | pathogenic | 46,137 |
Classify the chromosome 2 variant at position 169013281 affecting gene ABCB11 (ATP binding cassette subfamily B member 11) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Benign_recurrent_intrahepatic_cholestasis_type_2', 'Progressive_familial_intrahepatic_cholestasis_type_2'] | AAACTTATCCTCATAAGTGTTATCCGTGGCTTGGGTCAATTTACATCACACATAGGTCTGAATGCATTTTTTTCTCCAAGGGGAGAATGATTAATCTTATGTTTTGTGGTCAAACCCCTCTGTAAAAAGCAGTTCACTTCTGTCCTCCCGCATAAATGAAGGATTTCAAAGACTTTTGTTGAACTCAATCTCTCTTTTATACAAATTGCTCTGAGTTTGTCAAATGAAAAGAAACTTCCAATTTTAGAAAAGAAACATACATATTTAGACATTAGGGAACTTATATAGAATAAGTAGGCTTGTTGTTTATAAAGAATAAT... | AAACTTATCCTCATAAGTGTTATCCGTGGCTTGGGTCAATTTACATCACACATAGGTCTGAATGCATTTTTTTCTCCAAGGGGAGAATGATTAATCTTATGTTTTGTGGTCAAACCCCTCTGTAAAAAGCAGTTCACTTCTGTCCTCCCGCATAAATGAAGGATTTCAAAGACTTTTGTTGAACTCAATCTCTCTTTTATACAAATTGCTCTGAGTTTGTCAAATGAAAAGAAACTTCCAATTTTAGAAAAGAAACATACATATTTAGACATTAGGGAACTTATATAGAATAAGTAGGCTTGTTGTTTATAAAGAATAAT... | pathogenic | 46,154 |
Gene ABCB11 (ATP binding cassette subfamily B member 11) variant at chromosome position 169016806 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTACAACTACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCC... | ATTACAACTACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCC... | benign | 46,165 |
Does the variant on chromosome 2 at location 169016806 affecting gene ABCB11 (ATP binding cassette subfamily B member 11) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATTACAACTACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCC... | ATTACAACTACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCC... | benign | 46,166 |
Is the genetic variant on chromosome 2, position 169016815, gene ABCB11 (ATP binding cassette subfamily B member 11), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCCATGCAGTCC... | ACATTAAATAATGTTGATAATGATGAAAAATTCAAGAACATGCCCACACTTTTCATAGAATCATATTTCCTTAATATTTCCCATTCATTTCATTTCCCATAAGGCCATGTTTAACCTGTATTTGACCTCTTCAACTTCGGGGATCTTGACTTAACCTGAGTCACGCAGTCCATGAATACACCCTGGACCTTGCTGTCACCAGGAACTACTGTCTGACATGTTTAACTCCTTGGCACTCTGTGACTGCCCATGTACCTCATTTTCTCGCTTCCTTCCTCCTTCCACACCTATTTGTCAACCTCACTTGAGCCATGCAGTCC... | benign | 46,167 |
Determine if the mutation at chromosome 2, position 169137511 in gene LRP2 (LDL receptor related protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | benign | 46,193 |
Does the genetic variant at chromosome 2, position 169137511, impacting gene LRP2 (LDL receptor related protein 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | benign | 46,194 |
Does the chromosome 2 mutation at position 169137511 within gene LRP2 (LDL receptor related protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | benign | 46,196 |
Mutation found at chromosome 2 position 169137511, gene LRP2 (LDL receptor related protein 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | benign | 46,197 |
Assess the variant on chromosome 2, position 169137511, impacting LRP2 (LDL receptor related protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | GGCCTTCCCACCTCTATACAGTCCGACAGTGGACCGGCCTTTACTTGTCAAGTCACCCAAGCAGTTTCTCAGGCTCTTGGTATTCAGTGGAACCTTCATACCCCTTACGGTCCTCAATCTTCAAGAAAGGTAGAATGGACTAATGGTCTTTTAAAAACACACCTCACCAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTGCCCTTCTCAGAATTCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCATTTAAGCTCCTGTATAGACGCTCCTTTTTATTAAGCCCCAGTCTCATTCCAGAC... | benign | 46,198 |
The mutation in gene LRP2 (LDL receptor related protein 2) at chromosome 2, position 169140514—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Donnai-Barrow_syndrome'] | GAGAGGCCTAATACTGTATTTCAGTCTTCTCTAGGTGAATTTTGTTCTTTATAAAAAGTATTTATTCTATAAATGACAACCTTCAAATAATCATTTTGAAACCATACTCACCATTGCCATTGACCTGTCAATAGCAGTCTCAGGTCCAAAACCAGACACTCCAATATCCATGTTAAGATCTGCCCCTGATCTGAAGGTCACCCCATTCCCATTTTCAGAGGGCTTGACGAGACTGCTTAAGCTGGAAAGAAGTAACCAAAACAGTGTCTTGTTATTTAAAACAACAACAACAAAAACAACAAATACAACCTTTCACAATA... | GAGAGGCCTAATACTGTATTTCAGTCTTCTCTAGGTGAATTTTGTTCTTTATAAAAAGTATTTATTCTATAAATGACAACCTTCAAATAATCATTTTGAAACCATACTCACCATTGCCATTGACCTGTCAATAGCAGTCTCAGGTCCAAAACCAGACACTCCAATATCCATGTTAAGATCTGCCCCTGATCTGAAGGTCACCCCATTCCCATTTTCAGAGGGCTTGACGAGACTGCTTAAGCTGGAAAGAAGTAACCAAAACAGTGTCTTGTTATTTAAAACAACAACAACAAAAACAACAAATACAACCTTTCACAATA... | pathogenic | 46,211 |
The mutation in gene LRP2 (LDL receptor related protein 2) at chromosome 2, position 169140514—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Donnai-Barrow_syndrome'] | GAGAGGCCTAATACTGTATTTCAGTCTTCTCTAGGTGAATTTTGTTCTTTATAAAAAGTATTTATTCTATAAATGACAACCTTCAAATAATCATTTTGAAACCATACTCACCATTGCCATTGACCTGTCAATAGCAGTCTCAGGTCCAAAACCAGACACTCCAATATCCATGTTAAGATCTGCCCCTGATCTGAAGGTCACCCCATTCCCATTTTCAGAGGGCTTGACGAGACTGCTTAAGCTGGAAAGAAGTAACCAAAACAGTGTCTTGTTATTTAAAACAACAACAACAAAAACAACAAATACAACCTTTCACAATA... | GAGAGGCCTAATACTGTATTTCAGTCTTCTCTAGGTGAATTTTGTTCTTTATAAAAAGTATTTATTCTATAAATGACAACCTTCAAATAATCATTTTGAAACCATACTCACCATTGCCATTGACCTGTCAATAGCAGTCTCAGGTCCAAAACCAGACACTCCAATATCCATGTTAAGATCTGCCCCTGATCTGAAGGTCACCCCATTCCCATTTTCAGAGGGCTTGACGAGACTGCTTAAGCTGGAAAGAAGTAACCAAAACAGTGTCTTGTTATTTAAAACAACAACAACAAAAACAACAAATACAACCTTTCACAATA... | pathogenic | 46,212 |
Determine if the mutation at chromosome 2, position 169168688 in gene LRP2 (LDL receptor related protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTGAATTCCCTCACCTCTTACATTTAAAATCGATATCTCACAATCAAACCCTGACACACTTGCTGTCCAGAGTGAGACCTCTAGCTGCTGCCTGTACAGATGTGAGGAACTCAAGGGTAGTCCCCAGGTCCCCTACTTGTTTGGTACAGGGAACATGGTTCACTATGCGTGTACCACAAATGCAGTGAACTCAACATACATGTGGTCTTCACATGTGGTCTGTCTTTCACATGGAGGATTTGGGCTGTCTGATTTTCCTTCCGCCTTGGTATCACACACAGGGATCAAGAGGAGAGACTTATAATAAGATTGGTTGAGGG... | CTGAATTCCCTCACCTCTTACATTTAAAATCGATATCTCACAATCAAACCCTGACACACTTGCTGTCCAGAGTGAGACCTCTAGCTGCTGCCTGTACAGATGTGAGGAACTCAAGGGTAGTCCCCAGGTCCCCTACTTGTTTGGTACAGGGAACATGGTTCACTATGCGTGTACCACAAATGCAGTGAACTCAACATACATGTGGTCTTCACATGTGGTCTGTCTTTCACATGGAGGATTTGGGCTGTCTGATTTTCCTTCCGCCTTGGTATCACACACAGGGATCAAGAGGAGAGACTTATAATAAGATTGGTTGAGGG... | benign | 46,250 |
Classify the chromosome 2 variant at position 169204283 affecting gene LRP2 (LDL receptor related protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CAGAACTCCCTGAGAAAGTCCACTGTGTTTTATTCACTCTATTCAGATGGAAGCTGAGGATTGGAAGTTATTTTCATAAAATTTTTGAAATAATGACCTTTGTGCTACGAAAATTGGTAAAATGATACGTTTCCTTAGTCCCAAGCTAAGCTAGACTTAGCTTGCACCATGCCTCATGCTAAGGGATTTTTACATATTGTTTCTCTTACTCCTCGCAAGAACCCTAGTAGTAGCTCCATTTTACAGATGAGATGTCTGAGGCTTGAGATATTAAGTAACTTTCCCAGGTCTATACAGATTACAAATGCGATCACCAGGAT... | CAGAACTCCCTGAGAAAGTCCACTGTGTTTTATTCACTCTATTCAGATGGAAGCTGAGGATTGGAAGTTATTTTCATAAAATTTTTGAAATAATGACCTTTGTGCTACGAAAATTGGTAAAATGATACGTTTCCTTAGTCCCAAGCTAAGCTAGACTTAGCTTGCACCATGCCTCATGCTAAGGGATTTTTACATATTGTTTCTCTTACTCCTCGCAAGAACCCTAGTAGTAGCTCCATTTTACAGATGAGATGTCTGAGGCTTGAGATATTAAGTAACTTTCCCAGGTCTATACAGATTACAAATGCGATCACCAGGAT... | benign | 46,337 |
Gene LRP2 (LDL receptor related protein 2) variant at chromosome 2, position 169204283—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CAGAACTCCCTGAGAAAGTCCACTGTGTTTTATTCACTCTATTCAGATGGAAGCTGAGGATTGGAAGTTATTTTCATAAAATTTTTGAAATAATGACCTTTGTGCTACGAAAATTGGTAAAATGATACGTTTCCTTAGTCCCAAGCTAAGCTAGACTTAGCTTGCACCATGCCTCATGCTAAGGGATTTTTACATATTGTTTCTCTTACTCCTCGCAAGAACCCTAGTAGTAGCTCCATTTTACAGATGAGATGTCTGAGGCTTGAGATATTAAGTAACTTTCCCAGGTCTATACAGATTACAAATGCGATCACCAGGAT... | CAGAACTCCCTGAGAAAGTCCACTGTGTTTTATTCACTCTATTCAGATGGAAGCTGAGGATTGGAAGTTATTTTCATAAAATTTTTGAAATAATGACCTTTGTGCTACGAAAATTGGTAAAATGATACGTTTCCTTAGTCCCAAGCTAAGCTAGACTTAGCTTGCACCATGCCTCATGCTAAGGGATTTTTACATATTGTTTCTCTTACTCCTCGCAAGAACCCTAGTAGTAGCTCCATTTTACAGATGAGATGTCTGAGGCTTGAGATATTAAGTAACTTTCCCAGGTCTATACAGATTACAAATGCGATCACCAGGAT... | benign | 46,338 |
Determine if the mutation at chromosome 2, position 169289163 in gene LRP2 (LDL receptor related protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GTCACCACCTAACCAATAAGGGCATTCGTGTGAAAAGTATCTGTAAATTACTTGAATGCATTCCCAATATAATGGTAATGATAACAATAAAACACAAAATGTGTCCTGCAATCTTATTTAAGTCCAGTTGCAGATCATAACTTTTATTTATAAAATGTTTTAAAATGATTAGAAATTTGGGGGCCTTCTTAAATTATTCCAGAGTTCACTTAAGTCACTTGATCTTAAAGTACCTTGTTGAATATAGTTACTTAAGAGGAGCAATTAGATGGGCAACTTTGGGACGTGGTCCTGATATTAAGAACCTACAGTTACCCACT... | GTCACCACCTAACCAATAAGGGCATTCGTGTGAAAAGTATCTGTAAATTACTTGAATGCATTCCCAATATAATGGTAATGATAACAATAAAACACAAAATGTGTCCTGCAATCTTATTTAAGTCCAGTTGCAGATCATAACTTTTATTTATAAAATGTTTTAAAATGATTAGAAATTTGGGGGCCTTCTTAAATTATTCCAGAGTTCACTTAAGTCACTTGATCTTAAAGTACCTTGTTGAATATAGTTACTTAAGAGGAGCAATTAGATGGGCAACTTTGGGACGTGGTCCTGATATTAAGAACCTACAGTTACCCACT... | benign | 46,495 |
Located at chromosome 2 position 169294717, the variant affecting gene LRP2 (LDL receptor related protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | benign | 46,513 |
Gene LRP2 (LDL receptor related protein 2) variant at chromosome position 169294717 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | benign | 46,514 |
Is the chromosome 2, position 169294717 variant in LRP2 (LDL receptor related protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | benign | 46,515 |
The mutation impacting LRP2 (LDL receptor related protein 2) on chromosome 2 at position 169294717: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | ATAAAAATAAATAGCCAAGCATGGTGGTACATGTCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATGGCATGAGCCTGGTGGGGGTGTGTGGAGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAACAAGATGGTTTGCAATGCGTTGGCACAGAACAGAAAATGCAGACAAAGATGCTGCAGACATGACAACATCCAACGTTCTCATACTTTACTACAAGCTCCGTAATTGCTAATCTATGACCAAAT... | benign | 46,516 |
Variant on chromosome 2, at position 169307279, affecting LRP2 (LDL receptor related protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Donnai-Barrow_syndrome'] | GTTTTTAAAAATGCACCATGTGGTCATGGTATGGATGGAAGCATAGGTCTTGCTTTTGCACATATACAAGTATATCTTCCATGAACAGTATAGTTTGAAATGTACAGTGACTAGAAACAATTTGCTTGCCATAATCAATGTATGTTAGCTCCTACCCTAGTCACAGCACCATATTGGGAAGTTTAGCAAAATTTACACAAGATAGTTCTTTTATCAGAAAGCATAAAATAAACCATTTGTATCAAAGGAAGGAATTTAGAGACAATCCAGAGAACTAAAATTAAATCAAAATTATAAAACAATAGAGGAGATATCCCGTG... | GTTTTTAAAAATGCACCATGTGGTCATGGTATGGATGGAAGCATAGGTCTTGCTTTTGCACATATACAAGTATATCTTCCATGAACAGTATAGTTTGAAATGTACAGTGACTAGAAACAATTTGCTTGCCATAATCAATGTATGTTAGCTCCTACCCTAGTCACAGCACCATATTGGGAAGTTTAGCAAAATTTACACAAGATAGTTCTTTTATCAGAAAGCATAAAATAAACCATTTGTATCAAAGGAAGGAATTTAGAGACAATCCAGAGAACTAAAATTAAATCAAAATTATAAAACAATAGAGGAGATATCCCGTG... | pathogenic | 46,520 |
Evaluate this variant at chromosome 2, position 169320894, gene LRP2 (LDL receptor related protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TCTGGCACTTGAAATAGCCCTGCTGGCAGGTCACAACAGCTAAAACAAACCAAAAGAGGACTCATTATGGCAATCATCCTCCCCATTATACTAGCAAGCAATGCTTGTTCCAGAAGAGTGTATCATGTAAACTCCTGCTCAATTTATTTGAAGGCAAATAGTAAACAACCCTTATACTAGAGTCTGTGGACGCCAGTCAGAGTTCACTGTCAAATAAGCTCAGCAACAGCATCACAACAAACTCATGAACCAAAGCAACTTAAAAACACAGAGAATAAAACAAACAGCACACATACACACAAAAAAATTATGATAAAGGT... | TCTGGCACTTGAAATAGCCCTGCTGGCAGGTCACAACAGCTAAAACAAACCAAAAGAGGACTCATTATGGCAATCATCCTCCCCATTATACTAGCAAGCAATGCTTGTTCCAGAAGAGTGTATCATGTAAACTCCTGCTCAATTTATTTGAAGGCAAATAGTAAACAACCCTTATACTAGAGTCTGTGGACGCCAGTCAGAGTTCACTGTCAAATAAGCTCAGCAACAGCATCACAACAAACTCATGAACCAAAGCAACTTAAAAACACAGAGAATAAAACAAACAGCACACATACACACAAAAAAATTATGATAAAGGT... | benign | 46,532 |
Determine whether the variant at chromosome 2, position 169479605, in gene BBS5 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | CCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCGCC... | CCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCGCC... | pathogenic | 46,547 |
Benign or pathogenic: chromosome 2, position 169482311, gene BBS5 (Bardet-Biedl syndrome 5) variant? Disease(s) if pathogenic? | pathogenic; ['BBS5-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | GGAAAGTATCGTAAAGAAAAAGTGGTTAGAAACCTCCTACTCCAAAATCCAGGGCGGGAAATGCCGGTTGGGTTACTAAGTGTTGAGAAACGCTAAAGCTAAGATTCCTGGATTAATGGCATGGAGCTTCTTAGCTACTTCTTATCGTTCCTTATCATGGACCTCCCCTCCTTAGGTGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAAAAATGAAATATTGATAAATTTCTCAGGTTAAGTATAGCTAGATATCTAATGCTAACATGTTAGAC... | GGAAAGTATCGTAAAGAAAAAGTGGTTAGAAACCTCCTACTCCAAAATCCAGGGCGGGAAATGCCGGTTGGGTTACTAAGTGTTGAGAAACGCTAAAGCTAAGATTCCTGGATTAATGGCATGGAGCTTCTTAGCTACTTCTTATCGTTCCTTATCATGGACCTCCCCTCCTTAGGTGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAATCGTTCCTTATCATGGACCTCACCTCCTTAGATGGAAAAATGAAATATTGATAAATTTCTCAGGTTAAGTATAGCTAGATATCTAATGCTAACATGTTAGAC... | pathogenic | 46,550 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 169488030, gene BBS5 (Bardet-Biedl syndrome 5): what disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | TTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAGATATTCTGTAATTTTCCACAGTCTCCCTTGAGAATGCTTTCATCTTTTTTAGAGCCATGTTTGCTATCCACTTTTCACTCCAGTATTCGTACAGACCTAGTTTCTCTGATTTTAGACATTATAGAGGTTTTCAGAAATAGTATGACCTGGCTGGCTATAGATTACTCATAAAAATAATTTTATGATTGTAATTTGTTGGTGAAATAATGTGTTTAAACA... | TTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAGATATTCTGTAATTTTCCACAGTCTCCCTTGAGAATGCTTTCATCTTTTTTAGAGCCATGTTTGCTATCCACTTTTCACTCCAGTATTCGTACAGACCTAGTTTCTCTGATTTTAGACATTATAGAGGTTTTCAGAAATAGTATGACCTGGCTGGCTATAGATTACTCATAAAAATAATTTTATGATTGTAATTTGTTGGTGAAATAATGTGTTTAAACA... | pathogenic | 46,560 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 169492930, gene BBS5 (Bardet-Biedl syndrome 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | AAATTTTATTTACATGGAATCATATAATATGTGGCCTTTTATGTCTGACCTCTTTCACTTACACAGTGTGTTCAAGGTCCATTCATGTTGTAGCATGTATCAGTAGTAGTAGTAGTTCATTCCTTTTTGTAGCTAAAGAATATTCCATTGTATGGGCATACCACATTTTGTTTATCCATTCATGAGTTGATGGACATTTGGGTTTTTTACTTTTTAGCCATTATGAATAATGTTACTATGAACATTTGTGTATAAGTTTTGTGTCAACATCTGTTTTCAGTTCTCTTGGGCATATACCTAAACCTTAGCTCTTTATTTCA... | AAATTTTATTTACATGGAATCATATAATATGTGGCCTTTTATGTCTGACCTCTTTCACTTACACAGTGTGTTCAAGGTCCATTCATGTTGTAGCATGTATCAGTAGTAGTAGTAGTTCATTCCTTTTTGTAGCTAAAGAATATTCCATTGTATGGGCATACCACATTTTGTTTATCCATTCATGAGTTGATGGACATTTGGGTTTTTTACTTTTTAGCCATTATGAATAATGTTACTATGAACATTTGTGTATAAGTTTTGTGTCAACATCTGTTTTCAGTTCTCTTGGGCATATACCTAAACCTTAGCTCTTTATTTCA... | pathogenic | 46,564 |
Is the genetic mutation found on chromosome 2 at position 169497607, within the gene BBS5 (Bardet-Biedl syndrome 5), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATATCAGCTTCTTGCCAGTTTCTGTCTTACCAGCCTGTGTCACCCACAGACACCTGGTTAGATTACCTATTGAAAGCCAGAGTGCCAGTGTTCTGTGATTCTTTCTTTCCTTTTTAGACAGGGGTCTCACTCTGTCACCCAGGCTAGAGTACAGTGGCATGGTCTTGGCTTACTGCAACTGCTGCCTCCCAGGCTCAGGTGATCCTCTCTCCTCAGCCTCCTGAACAGCTGGGACCACAGGCGTGCACAGCCACACCTGGCTAATTTTTTTGTAATTTTTGTAGAGACGGGGTTTCACCATGTTTCCCAGGCTGGTCTCA... | ATATCAGCTTCTTGCCAGTTTCTGTCTTACCAGCCTGTGTCACCCACAGACACCTGGTTAGATTACCTATTGAAAGCCAGAGTGCCAGTGTTCTGTGATTCTTTCTTTCCTTTTTAGACAGGGGTCTCACTCTGTCACCCAGGCTAGAGTACAGTGGCATGGTCTTGGCTTACTGCAACTGCTGCCTCCCAGGCTCAGGTGATCCTCTCTCCTCAGCCTCCTGAACAGCTGGGACCACAGGCGTGCACAGCCACACCTGGCTAATTTTTTTGTAATTTTTGTAGAGACGGGGTTTCACCATGTTTCCCAGGCTGGTCTCA... | benign | 46,570 |
Chromosome 2, position 169499509, gene BBS5 (Bardet-Biedl syndrome 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | TGTTTCTTTTACTTGATCTCTGTGGCAGTTTAATGAAGGAAGGAGGGAGAATTCTGTTCTTTAGACTATGAAAAGTAAATACTGTGTAAAGTTTAAAAACTGAGTTAAAGAGTCACTATTCAGTTAATAAAAACTTGCATGTTTTTCTTTTTCATTTTGTATCTAGCGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAGGTAAGATCTTGTATATTTTTATTAATCTTTGATTTTTAAAACTATGTGACAGTCTAGATTTTTGGTTTTATTTATATAGTAATCAGTTTAC... | TGTTTCTTTTACTTGATCTCTGTGGCAGTTTAATGAAGGAAGGAGGGAGAATTCTGTTCTTTAGACTATGAAAAGTAAATACTGTGTAAAGTTTAAAAACTGAGTTAAAGAGTCACTATTCAGTTAATAAAAACTTGCATGTTTTTCTTTTTCATTTTGTATCTAGCGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTTGTCATAGAAAGCTCTCAGCAGGTAAGATCTTGTATATTTTTATTAATCTTTGATTTTTAAAACTATGTGACAGTCTAGATTTTTGGTTTTATTTATATAGTAATCAGTTTAC... | pathogenic | 46,575 |
Is chromosome 2, position 169504496, gene BBS5 (Bardet-Biedl syndrome 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_5'] | TTTTATCATTTTGACTGATAAAAAATGGCAGTTTCTTTTGGTTCAACATAATATTTAGTTATCGGTCATTGTGTCTTATATTTTCCTCTACTCAGTAAATTATAAACCCTTTGTGAGTAAGGGTAGGATTTTATAACCCTTGGTACTACTGGCATAGTACCTAATATAACAAAGGGGATATTCAAACATTTGAAAAATGAACAAATAAATAAGTGTTAGTTCTACATTTTATTCTTTACCTTTAGAATATTCCATAAAAATATTAGTTCTTTTACTTTTCACAAATTCTATATAATGACTATTCTGAGGAAAACTGAACA... | TTTTATCATTTTGACTGATAAAAAATGGCAGTTTCTTTTGGTTCAACATAATATTTAGTTATCGGTCATTGTGTCTTATATTTTCCTCTACTCAGTAAATTATAAACCCTTTGTGAGTAAGGGTAGGATTTTATAACCCTTGGTACTACTGGCATAGTACCTAATATAACAAAGGGGATATTCAAACATTTGAAAAATGAACAAATAAATAAGTGTTAGTTCTACATTTTATTCTTTACCTTTAGAATATTCCATAAAAATATTAGTTCTTTTACTTTTCACAAATTCTATATAATGACTATTCTGAGGAAAACTGAACA... | pathogenic | 46,580 |
Classify the chromosome 2 variant at position 169504520 affecting gene BBS5 (Bardet-Biedl syndrome 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_5'] | ATGGCAGTTTCTTTTGGTTCAACATAATATTTAGTTATCGGTCATTGTGTCTTATATTTTCCTCTACTCAGTAAATTATAAACCCTTTGTGAGTAAGGGTAGGATTTTATAACCCTTGGTACTACTGGCATAGTACCTAATATAACAAAGGGGATATTCAAACATTTGAAAAATGAACAAATAAATAAGTGTTAGTTCTACATTTTATTCTTTACCTTTAGAATATTCCATAAAAATATTAGTTCTTTTACTTTTCACAAATTCTATATAATGACTATTCTGAGGAAAACTGAACATTTGCTGTTATGCAAAACTTAGTT... | ATGGCAGTTTCTTTTGGTTCAACATAATATTTAGTTATCGGTCATTGTGTCTTATATTTTCCTCTACTCAGTAAATTATAAACCCTTTGTGAGTAAGGGTAGGATTTTATAACCCTTGGTACTACTGGCATAGTACCTAATATAACAAAGGGGATATTCAAACATTTGAAAAATGAACAAATAAATAAGTGTTAGTTCTACATTTTATTCTTTACCTTTAGAATATTCCATAAAAATATTAGTTCTTTTACTTTTCACAAATTCTATATAATGACTATTCTGAGGAAAACTGAACATTTGCTGTTATGCAAAACTTAGTT... | pathogenic | 46,581 |
Does the variant impacting KLHL41 (kelch like family member 41) on chromosome 2, position 169509985, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nemaline_myopathy_9'] | ATGAGCTCTTCTTTCAGCTGTTGTTTTAGCAGCTGACAGTACCATTGACTTCACTGTGATGTAAAATAAAAGAAAAGGCCTTTACTCATGGATAGAGACCTTGAAGTTTAAAAATACATAATTCCTTGATCTGGGGCATTCATTCATTCAACAAATACTTATAAAGCACTCACGAAACCCCTACGCTATAGCATTTGAAAAGAACAGACACTCCCACAATCCCTGTCTTCATGGAATTTGTTTTTGGGGGTATGTGTAAAAATACCAACTTTTGAAATTACAGTATTTCTACAGCCCTACTTGAGTTCAGATAATGTGAC... | ATGAGCTCTTCTTTCAGCTGTTGTTTTAGCAGCTGACAGTACCATTGACTTCACTGTGATGTAAAATAAAAGAAAAGGCCTTTACTCATGGATAGAGACCTTGAAGTTTAAAAATACATAATTCCTTGATCTGGGGCATTCATTCATTCAACAAATACTTATAAAGCACTCACGAAACCCCTACGCTATAGCATTTGAAAAGAACAGACACTCCCACAATCCCTGTCTTCATGGAATTTGTTTTTGGGGGTATGTGTAAAAATACCAACTTTTGAAATTACAGTATTTCTACAGCCCTACTTGAGTTCAGATAATGTGAC... | pathogenic | 46,588 |
Determine whether the variant at chromosome 2, position 169514550, in gene KLHL41 (kelch like family member 41) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCTTTTTACTTTCAAGTGTTCAGTTTAATCTTTGTCCTCTTCCAGCCTAATAAAACCCTTACTTTTACTGACGCAGCTTCTCATTTTTGGTTCAAGAAACCTACTTAATGTTCTGTATAACAGAACATTAACAATAACAGTTATACAAAGTTGGAAGGTCAGCAAAGCAAATGCCTTGCTGCTTTTAAAAGGCACTAATAGAACGGTATGCCAGGATAAAAACACTTCACCATAAAAGAGGGTTGTGACTCATCAGACAATATTTACATGAGAATTTCAGGTTTTATATTTTTCTGCTTGGTCACATCTATTTAAAATGC... | CCTTTTTACTTTCAAGTGTTCAGTTTAATCTTTGTCCTCTTCCAGCCTAATAAAACCCTTACTTTTACTGACGCAGCTTCTCATTTTTGGTTCAAGAAACCTACTTAATGTTCTGTATAACAGAACATTAACAATAACAGTTATACAAAGTTGGAAGGTCAGCAAAGCAAATGCCTTGCTGCTTTTAAAAGGCACTAATAGAACGGTATGCCAGGATAAAAACACTTCACCATAAAAGAGGGTTGTGACTCATCAGACAATATTTACATGAGAATTTCAGGTTTTATATTTTTCTGCTTGGTCACATCTATTTAAAATGC... | benign | 46,602 |
A mutation at chromosome position 169518223 on chromosome 2 in gene KLHL41 (kelch like family member 41): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['KLHL41-related_disorder', 'Nemaline_myopathy_9'] | CCCTGAAAAGGGAGCCAAAATTTAGAATTGTAAGGGCAAAGCAGGAAAGGAGAGTAAAATATAGAAATGTGTTAGATGTCAAGAACTCTATTCTGGAGTTAATGATTATTGGGTATTAGTCAATTTAAATGGTAAATATAGCACAGAAAAGGCGATTTTAAAAAGCAATGGTTTTTAAACATCTACCTGTATTCAAAGATAACATATTCTAAAATTTTTATATCCTCCCTAATCCCAGCTATTCCTATCAAATTTAAAGGAAGGTATATTATATGCTTACCTGGTGCCAGATCTTATTTTGGGCATTTTTCCTGAGTAAA... | CCCTGAAAAGGGAGCCAAAATTTAGAATTGTAAGGGCAAAGCAGGAAAGGAGAGTAAAATATAGAAATGTGTTAGATGTCAAGAACTCTATTCTGGAGTTAATGATTATTGGGTATTAGTCAATTTAAATGGTAAATATAGCACAGAAAAGGCGATTTTAAAAAGCAATGGTTTTTAAACATCTACCTGTATTCAAAGATAACATATTCTAAAATTTTTATATCCTCCCTAATCCCAGCTATTCCTATCAAATTTAAAGGAAGGTATATTATATGCTTACCTGGTGCCAGATCTTATTTTGGGCATTTTTCCTGAGTAAA... | pathogenic | 46,606 |
A mutation at chromosome position 169812475 on chromosome 2 in gene METTL5 (methyltransferase 5, N6-adenosine): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_72', 'Intellectual_disability,_severe'] | TGGATACATCCCTATCCTTTTTAGCAATCAGTTTGAAAATCTGTAGAAACTTAGACAAAATTAGTAGAAAGTAATTTTAAAAATTGTGTTTATTAAATTAGTTTCTACTTGATCATTTGTTATTGCCACTAGATGTGATGTCTGATATTTTCTGAATTATACTAAATTAGTTTCTACTTGATCATTTACTTTGTTGTTATTGTCACTATATGTGATGTCTGATAGTTTCTGAATTATACTATGAATAACTGTTCATACTGATGATTGCAGTTTTACTTCTGTAGCATTCCTTTTCTACTGTTCAGTAAAATTCATTCAAA... | TGGATACATCCCTATCCTTTTTAGCAATCAGTTTGAAAATCTGTAGAAACTTAGACAAAATTAGTAGAAAGTAATTTTAAAAATTGTGTTTATTAAATTAGTTTCTACTTGATCATTTGTTATTGCCACTAGATGTGATGTCTGATATTTTCTGAATTATACTAAATTAGTTTCTACTTGATCATTTACTTTGTTGTTATTGTCACTATATGTGATGTCTGATAGTTTCTGAATTATACTATGAATAACTGTTCATACTGATGATTGCAGTTTTACTTCTGTAGCATTCCTTTTCTACTGTTCAGTAAAATTCATTCAAA... | pathogenic | 46,620 |
Gene METTL5 (methyltransferase 5, N6-adenosine) variant at chromosome 2, position 169821152—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_72', 'Intellectual_disability,_severe'] | TCTCCATGTGTTATATGCTGCAAAAGTAAGAATAGGTGATTTCTGAACTCAGATCTGTTTAGCTCCAGGCTCAAGTGTTCTGAAAACCTGGCCTTACTGCCTCCCTTAAGTACATCAGGCCACACCGGGACAATGGGACAAAAGGGATCAACTAAGACTTACTCAGAGAAACCAAAACATACAGTAATCCTAGTTACAACACACTTTTCTACTCCTGAGTTATAGTCTCTCCTCTGGCAACAGTTCCTGTCTGAAAAAAATCTTTGAGGAAATAAGTCTTATAGCCTGGAAAAAGGCCAATCAGATGCTAGCTGGTTAAG... | TCTCCATGTGTTATATGCTGCAAAAGTAAGAATAGGTGATTTCTGAACTCAGATCTGTTTAGCTCCAGGCTCAAGTGTTCTGAAAACCTGGCCTTACTGCCTCCCTTAAGTACATCAGGCCACACCGGGACAATGGGACAAAAGGGATCAACTAAGACTTACTCAGAGAAACCAAAACATACAGTAATCCTAGTTACAACACACTTTTCTACTCCTGAGTTATAGTCTCTCCTCTGGCAACAGTTCCTGTCTGAAAAAAATCTTTGAGGAAATAAGTCTTATAGCCTGGAAAAAGGCCAATCAGATGCTAGCTGGTTAAG... | pathogenic | 46,621 |
A genetic variant at chromosome 2, position 171443575, affecting gene DCAF17 (DDB1 and CUL4 associated factor 17)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Woodhouse-Sakati_syndrome'] | TACTGACCCAATACTCAGCCCCAGCAATAGGCAGCTGGGGACTGGATGAGAAATGCTGTCATCCCACCCCTCCTAGGAAGATAGCTCTCTGAGTGGAAGCTTGGAAAACAGGGAGCCTTGTACTCTTGGCTGCACCAGTCTGGAGTGGAGTTTCCATCTTGCTGAGCTGGGATTGGGAAGGAAGGGACTATGCCCTGGTTCAGACACCACAGACTCACTATTCTTACTGAGCAGTAGTAGGTTTTCTTGAATAAATGTTTCTTCATATGCTGTATGTCCCCAGGACCATTTGCAGAGACTTTAAATAGTTGTCCTTTTAT... | TACTGACCCAATACTCAGCCCCAGCAATAGGCAGCTGGGGACTGGATGAGAAATGCTGTCATCCCACCCCTCCTAGGAAGATAGCTCTCTGAGTGGAAGCTTGGAAAACAGGGAGCCTTGTACTCTTGGCTGCACCAGTCTGGAGTGGAGTTTCCATCTTGCTGAGCTGGGATTGGGAAGGAAGGGACTATGCCCTGGTTCAGACACCACAGACTCACTATTCTTACTGAGCAGTAGTAGGTTTTCTTGAATAAATGTTTCTTCATATGCTGTATGTCCCCAGGACCATTTGCAGAGACTTTAAATAGTTGTCCTTTTAT... | pathogenic | 46,663 |
The genetic variant at chromosome 2, position 171448665, affecting gene DCAF17 (DDB1 and CUL4 associated factor 17): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATTCTCTAAATAAGAGATTTATTTACAGTCTTAATATCTCAGGGTTCTTTTTAGGTTTCCAGGGGAAAAGAGCAGGATAACAGTGTGGAGACTGCTAAGTTGAGAATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTG... | ATTCTCTAAATAAGAGATTTATTTACAGTCTTAATATCTCAGGGTTCTTTTTAGGTTTCCAGGGGAAAAGAGCAGGATAACAGTGTGGAGACTGCTAAGTTGAGAATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTG... | benign | 46,665 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 171448665, gene DCAF17 (DDB1 and CUL4 associated factor 17): what disease(s) if pathogenic? | benign | ATTCTCTAAATAAGAGATTTATTTACAGTCTTAATATCTCAGGGTTCTTTTTAGGTTTCCAGGGGAAAAGAGCAGGATAACAGTGTGGAGACTGCTAAGTTGAGAATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTG... | ATTCTCTAAATAAGAGATTTATTTACAGTCTTAATATCTCAGGGTTCTTTTTAGGTTTCCAGGGGAAAAGAGCAGGATAACAGTGTGGAGACTGCTAAGTTGAGAATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTG... | benign | 46,666 |
Evaluate if the mutation on chromosome 2 at position 171448769 in DCAF17 (DDB1 and CUL4 associated factor 17) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Woodhouse-Sakati_syndrome'] | AATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTGTGACCAATATGAAGGGTCAAGACTGAAATGTATTGTCTTTACTATCAAGAACTCTACTTTCAGTTTTTTCTCGGACAGTTAATTTCAGCTTCGTAGAGATTTCT... | AATTTAAAACAAATGAGAACATAAGATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTGTGACCAATATGAAGGGTCAAGACTGAAATGTATTGTCTTTACTATCAAGAACTCTACTTTCAGTTTTTTCTCGGACAGTTAATTTCAGCTTCGTAGAGATTTCT... | pathogenic | 46,668 |
Determine if the mutation at chromosome 2, position 171448794 in gene DCAF17 (DDB1 and CUL4 associated factor 17) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['DCAF17-related_disorder', 'Woodhouse-Sakati_syndrome'] | ATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTGTGACCAATATGAAGGGTCAAGACTGAAATGTATTGTCTTTACTATCAAGAACTCTACTTTCAGTTTTTTCTCGGACAGTTAATTTCAGCTTCGTAGAGATTTCTGACCAAATTAAGGAACACTGTTTTC... | ATTTTTAAAATTGCATTGTGAATGTAACATTTTTTATCAATCCTTTAATCTCACTCTTTTAGACATATTGAGAAAATGTTAAATAGAAAATATTATGAAATTTTAATAAGATGTTTCAGATCTTTGAGCATGAAAAATATAACAAAAAAGCCTAATTTCAAAAAACTATTTGAGATCAAGGGACAATGGTGTGACCAATATGAAGGGTCAAGACTGAAATGTATTGTCTTTACTATCAAGAACTCTACTTTCAGTTTTTTCTCGGACAGTTAATTTCAGCTTCGTAGAGATTTCTGACCAAATTAAGGAACACTGTTTTC... | pathogenic | 46,669 |
Does the genetic variant at chromosome 2, position 171458134, impacting gene DCAF17 (DDB1 and CUL4 associated factor 17), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCATGCCTATGTCCAGAATGATATTGCCTAGGTTATCTTCCAGGGTTTTTATAGTTTTGGGTTTTAGATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGCGTATGGTGTAAGGAAGGGGTCGAGTTTCAATTTTCTGCATATGGCTAGCCAGTTATCCCAGCACCACAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAAGTTTGTCGAAGATCAGATAGTTACAGGTGTGCAGTCTTATTAATATTTCTGGGTTCTCTCTTGGTTTATGTTTCTGTTCTTGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCC... | CCATGCCTATGTCCAGAATGATATTGCCTAGGTTATCTTCCAGGGTTTTTATAGTTTTGGGTTTTAGATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGCGTATGGTGTAAGGAAGGGGTCGAGTTTCAATTTTCTGCATATGGCTAGCCAGTTATCCCAGCACCACAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAAGTTTGTCGAAGATCAGATAGTTACAGGTGTGCAGTCTTATTAATATTTCTGGGTTCTCTCTTGGTTTATGTTTCTGTTCTTGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCC... | benign | 46,675 |
Classify the chromosome 2 variant at position 171481036 affecting gene DCAF17 (DDB1 and CUL4 associated factor 17) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Neurodegeneration_with_brain_iron_accumulation', 'Woodhouse-Sakati_syndrome'] | AAATATTTTAGCCTGTAAAGGAAAAGTTTGAAGAAATAGTGACTAAAATCTATAAAATCACAGACACCAAGGCAAGAAGTCACCCTTTGAAGTTTGACCATAGTAAGGTGAAGGCAAAAAGGAAATAACGTAAAAGTACATTTTAATAATCAAACGTAATAAATCCATATAAATTTTTATGTCTTAGGGTGGTAAAGGCAGAAAATGTCAGTGGATTAGAGAGCAGTTTGACCAAACATAGGTGAAGAATTAGTGCATAGTGATTGAGGGAAACATGCTATGCCTGTCTTTAAAGTTGATGCCAGGCATTCAGCCAAGAT... | AAATATTTTAGCCTGTAAAGGAAAAGTTTGAAGAAATAGTGACTAAAATCTATAAAATCACAGACACCAAGGCAAGAAGTCACCCTTTGAAGTTTGACCATAGTAAGGTGAAGGCAAAAAGGAAATAACGTAAAAGTACATTTTAATAATCAAACGTAATAAATCCATATAAATTTTTATGTCTTAGGGTGGTAAAGGCAGAAAATGTCAGTGGATTAGAGAGCAGTTTGACCAAACATAGGTGAAGAATTAGTGCATAGTGATTGAGGGAAACATGCTATGCCTGTCTTTAAAGTTGATGCCAGGCATTCAGCCAAGAT... | pathogenic | 46,687 |
Is the genetic mutation found on chromosome 2 at position 172469347, within the gene ITGA6 (integrin subunit alpha 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia'] | CCAAAAACCACATCTCTGTTTCCTTGAGATGACAAGTAATTTTTCTGGATTGAGTAACTGAATTTATTGAGTAGCTAGACTCAGAGTCGAGGCCATTTGGAAACAGTTGCTTGTATTTTTGTTCAGTGATGGTTTCTAGCATGTGCAGTCACTTGGAAGGCTAACTATGCTCCTTTCTACAGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGGTAAGTGTAGAGACACATGTTCATCCTATACTGTTGGACTGCTGGTTATGTGCCAGCA... | CCAAAAACCACATCTCTGTTTCCTTGAGATGACAAGTAATTTTTCTGGATTGAGTAACTGAATTTATTGAGTAGCTAGACTCAGAGTCGAGGCCATTTGGAAACAGTTGCTTGTATTTTTGTTCAGTGATGGTTTCTAGCATGTGCAGTCACTTGGAAGGCTAACTATGCTCCTTTCTACAGCTGACCCCACGTCAGAAAGCAAGGAAGATCAGTGGATGGGGGTCACCGTCCAGAGCCAAGGTCCAGGGGGCAAGGTCGTGGTAAGTGTAGAGACACATGTTCATCCTATACTGTTGGACTGCTGGTTATGTGCCAGCA... | pathogenic | 46,732 |
Clinical classification of chromosome 2, position 172475635, gene ITGA6 (integrin subunit alpha 6): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia'] | TCCTGTAAAAATACTGGTCATTAAATTACAGCAGAACCCTGTAACATGCACTCAATTATGCTTCCAGTCAGGTTATATATTCTCTGTGTATATGATGTAACATAACCAAATTATTCCTGGACAATTCAGTATCTAGCTTGATCTCCTTTTACCATAGTTCCAATATTAAAATAGGGTGGAAATTGATTCTTAAGATGTATGAATACTTCAAAATTCAAGTTATACATAGGTGCTTTTAGTTAAAAGTCTTAATATCCATAGAAAGCAGTAAATTAGCTAGCCCCAGGACTTTGTCCTTGTGTCACATCTGAACTCTGTCA... | TCCTGTAAAAATACTGGTCATTAAATTACAGCAGAACCCTGTAACATGCACTCAATTATGCTTCCAGTCAGGTTATATATTCTCTGTGTATATGATGTAACATAACCAAATTATTCCTGGACAATTCAGTATCTAGCTTGATCTCCTTTTACCATAGTTCCAATATTAAAATAGGGTGGAAATTGATTCTTAAGATGTATGAATACTTCAAAATTCAAGTTATACATAGGTGCTTTTAGTTAAAAGTCTTAATATCCATAGAAAGCAGTAAATTAGCTAGCCCCAGGACTTTGTCCTTGTGTCACATCTGAACTCTGTCA... | pathogenic | 46,742 |
Chromosome 2, position 172487718, gene ITGA6: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGCAAAGCAAAAAAGTATTATTAGCATACAGTAGTCATTTAGTGCCTAATATAGCCTAAGTCATCTTTGGAAGAAAAATGTGTATTAGATGGCCTGTGGGATACCTCATATGAGGTGGGGTCTGTTTGCTAGGGGTTTAGGATGGTTAAGGTGCAAGGTTAGCCCGGGCAGCTATGACAGCTTGATTTGGCATTATGTTCTTGCTTTCAAAATCTAATTGATGATGAACGGGTGTGGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAGGCCGAGGCGGGCAGGTCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGCC... | AGCAAAGCAAAAAAGTATTATTAGCATACAGTAGTCATTTAGTGCCTAATATAGCCTAAGTCATCTTTGGAAGAAAAATGTGTATTAGATGGCCTGTGGGATACCTCATATGAGGTGGGGTCTGTTTGCTAGGGGTTTAGGATGGTTAAGGTGCAAGGTTAGCCCGGGCAGCTATGACAGCTTGATTTGGCATTATGTTCTTGCTTTCAAAATCTAATTGATGATGAACGGGTGTGGTGGCTCATGCCTGTAATCCCAGAACTTCGGGAGGCCGAGGCGGGCAGGTCACTTGAGGTTAGGAGTTTGAGACCAGCCTGGCC... | benign | 46,755 |
Regarding the variant at chromosome 2 and position 172504272, affecting gene ITGA6: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TATTAATTCGGTATGTAGCATTCCACTAGGGAATTCAAAGATGCATAAGAAATCATTCTAGATTTCTTGTCCATTTTGGAATTTTCCACAGATAGAAGCTGTGTCGACCGCCTAATTAACCTGTTGCATGTTGGAAATGTTGTGTTTCTCTTGGTGAGGCTTCCTCACTGTCATCTTTTTGTTCTCTTTGCTATAAAGTGATGGGGAAGGCTTGGAATGCTTTTTACTGTTGCTCAGGAATCGTTTTATGCTAGCTAAGCATGCAACTTCCATTTCCTGCATGTCTCCTACAGGTCAAAGACCATTACAACAAACTGATT... | TATTAATTCGGTATGTAGCATTCCACTAGGGAATTCAAAGATGCATAAGAAATCATTCTAGATTTCTTGTCCATTTTGGAATTTTCCACAGATAGAAGCTGTGTCGACCGCCTAATTAACCTGTTGCATGTTGGAAATGTTGTGTTTCTCTTGGTGAGGCTTCCTCACTGTCATCTTTTTGTTCTCTTTGCTATAAAGTGATGGGGAAGGCTTGGAATGCTTTTTACTGTTGCTCAGGAATCGTTTTATGCTAGCTAAGCATGCAACTTCCATTTCCTGCATGTCTCCTACAGGTCAAAGACCATTACAACAAACTGATT... | benign | 46,776 |
Clinical classification of chromosome 2, position 174574953, gene WIPF1 (WAS/WASL interacting protein family member 1): benign or pathogenic? Disease(s) if pathogenic? | benign | AATCTCCAAATGTGAGGGCTTATCTAGTCCCTATGAAGAGAAATGCCCCAAAAAAAGTGGAAAACTGTAAGGGGAAATTATAAGAAAAGAGTTATGACTGCAATAAGAAAAAACTAAGAAAGGAAAAAGAACCATCAGTAAAGTTTAATTGTAAGAGTTGACACCAGTGGATGGAATTCATCTACAAAGAAGCAGGCAACTACACAACTTTTTTTTGGTACCACGTCAACCTCTGCTTCAGTATTGGCAGGACAGAATAATCCCATAACTGCTCTGGTTCAACAAGGGAGAAACTAAAGGGGGAACCAAAGAGATGGAAA... | AATCTCCAAATGTGAGGGCTTATCTAGTCCCTATGAAGAGAAATGCCCCAAAAAAAGTGGAAAACTGTAAGGGGAAATTATAAGAAAAGAGTTATGACTGCAATAAGAAAAAACTAAGAAAGGAAAAAGAACCATCAGTAAAGTTTAATTGTAAGAGTTGACACCAGTGGATGGAATTCATCTACAAAGAAGCAGGCAACTACACAACTTTTTTTTGGTACCACGTCAACCTCTGCTTCAGTATTGGCAGGACAGAATAATCCCATAACTGCTCTGGTTCAACAAGGGAGAAACTAAAGGGGGAACCAAAGAGATGGAAA... | benign | 46,831 |
Determine whether the variant at chromosome 2, position 174748849, in gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGACAGAAAGATGGTTTTTTGCTAAGACTGAAATTCTTGACAACACTGAGCAGAGTTACAGGATGGCCTAGATGGAGCCAGGGGTGGCTGGGAGAGCCAGTGAACAGATGAACTGACCCAGCCTGGAGTTGCTTTGGAATCTCAAAGTCTGGATTCAAATCCCAGTTCTTCTAGTTTGAGCAAAGAACTTAACCTCCCTGAAATTCAATTTTCTCATTTGGAAAATAGGGACATTACAGGATTTCCCTGAAATTTAATTTTCTCATTTGTAAAATAGGGACATTCTAGGATTTTATGAAGGGGATGATGATGAAGTAAAC... | AGACAGAAAGATGGTTTTTTGCTAAGACTGAAATTCTTGACAACACTGAGCAGAGTTACAGGATGGCCTAGATGGAGCCAGGGGTGGCTGGGAGAGCCAGTGAACAGATGAACTGACCCAGCCTGGAGTTGCTTTGGAATCTCAAAGTCTGGATTCAAATCCCAGTTCTTCTAGTTTGAGCAAAGAACTTAACCTCCCTGAAATTCAATTTTCTCATTTGGAAAATAGGGACATTACAGGATTTCCCTGAAATTTAATTTTCTCATTTGTAAAATAGGGACATTCTAGGATTTTATGAAGGGGATGATGATGAAGTAAAC... | benign | 46,850 |
Determine if the mutation at chromosome 2, position 174750180 in gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTATTTTTTGAATAGATTATTTACAAAGTGATAACTTACTAAGGTGGTCTAGAGGCGGTCA... | GCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTATTTTTTGAATAGATTATTTACAAAGTGATAACTTACTAAGGTGGTCTAGAGGCGGTCA... | benign | 46,854 |
The genetic variant at chromosome 2, position 174754240, affecting gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_1A', 'Lethal_multiple_pterygium_syndrome', 'Myasthenic_syndrome,_congenital,_1B,_fast-channel'] | CATCTCTATTTATTTATTTTTTTAATGTAAAAAAGTTTCATTTGATTAGAAAGTTGAAAGAATTGTGTTTGTGATTATTTGTTTAAAAACAAGTGCAGGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCA... | CATCTCTATTTATTTATTTTTTTAATGTAAAAAAGTTTCATTTGATTAGAAAGTTGAAAGAATTGTGTTTGTGATTATTTGTTTAAAAACAAGTGCAGGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCA... | pathogenic | 46,866 |
A genetic variant on chromosome 2, position 174754377, affects the gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Congenital_myasthenic_syndrome', 'Lethal_multiple_pterygium_syndrome'] | GGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCCTGGGCAACAGAGTGAGACCCGGTCTCAAAACAAAAACAAAAATGAAACCCCAAATGCAGTCACTGGAACATGCACTCTGAGGGGTGAGGCACTTTCTGTCTTATT... | GGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCCTGGGCAACAGAGTGAGACCCGGTCTCAAAACAAAAACAAAAATGAAACCCCAAATGCAGTCACTGGAACATGCACTCTGAGGGGTGAGGCACTTTCTGTCTTATT... | pathogenic | 46,870 |
Does the variant impacting CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on chromosome 2, position 174759379, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATTTTGTAGAGATGTTGTCTTGCTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGAGTTTACAGGTGTGAGCCACCATCCTGGGTGATTTAACATTAGCAGTGGTGAGAAGCATTCCGAGCGCGCAGCCCTTCTATTAGGGCACTTTATTCCACCTGCCCCAGGAGCACCCTCCGCCACCCATGCAGTTTGCTCACTTGTTATAGAGAACAAGGTCTGGGCGCCAGATCTTTTCTGAAGGAATGTGAATTTTTTTCACACCGCCATAGTCATCTGGATTCC... | AATTTTGTAGAGATGTTGTCTTGCTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCTGAGTTTACAGGTGTGAGCCACCATCCTGGGTGATTTAACATTAGCAGTGGTGAGAAGCATTCCGAGCGCGCAGCCCTTCTATTAGGGCACTTTATTCCACCTGCCCCAGGAGCACCCTCCGCCACCCATGCAGTTTGCTCACTTGTTATAGAGAACAAGGTCTGGGCGCCAGATCTTTTCTGAAGGAATGTGAATTTTTTTCACACCGCCATAGTCATCTGGATTCC... | benign | 46,878 |
A mutation at chromosome position 176093057 on chromosome 2 in gene HOXD13 (homeobox D13): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['HOXD13-related_disorder'] | TTTGATCATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACA... | TTTGATCATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACA... | pathogenic | 46,903 |
Variant in gene HOXD13 (homeobox D13), located at chromosome 2 position 176093061: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['HOXD13-related_disorder'] | ATCATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAAC... | ATCATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAAC... | pathogenic | 46,904 |
Considering the genetic mutation at chromosome 2, position 176093064, impacting HOXD13 (homeobox D13): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAA... | ATGAACATGTCTAGAACTTCAAAACGATGAAACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAA... | benign | 46,905 |
Does the genetic variant at chromosome 2, position 176093094, impacting gene HOXD13 (homeobox D13), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Synpolydactyly_type_1'] | AACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAAATGGGCTCTGAAGGATCCCATATCCACCCC... | AACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAAATGGGCTCTGAAGGATCCCATATCCACCCC... | pathogenic | 46,907 |
Chromosome 2, position 176093094, gene HOXD13 (homeobox D13): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Syndactyly_type_5', 'Synpolydactyly_type_1'] | AACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAAATGGGCTCTGAAGGATCCCATATCCACCCC... | AACGAATTCTCTTGCTTTTCCTTTCCAACACCCCTCTCATAACTTTCCCCTTTATTTGAGCCTTTTATGGTTACTGCGTTTTGCATGTCAACACTCCTAACACCAGCAGCCTACCCTGAAATGCCAGGCCAGGCCAAGGAGGGCCTTCCTGGCTCTCTTCCTCATCTTACTCAGGGCATCTTTGGTCGGGGAACAGTGGTGCTGGGTGACAAGCTTTCACCAATCACAGGCTTAGGGGAGTGATTTTCTTGGAGATGGGCTGGCTTGGGGAGTGCATGCCACAGAACCAAATGGGCTCTGAAGGATCCCATATCCACCCC... | pathogenic | 46,908 |
Clinically, how would you classify the variant at chromosome 2, position 177436968, gene AGPS (alkylglycerone phosphate synthase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATGAGTGATTGAGGATTTTAGTTTGTTCATGTAGTTTCACTTTTCTGAAAGTGGGATTAGGAAACTTTAAACTGTAGGTATATATATATATATATATATATATATGTATGAAACTAATGAAATATTTAGCGTTTCTTTTTATTATTTTTGTTGTGTTTTTATTATTGTTGCATTTCTTTTTATTATTTTTGATGTGTTTTTATTATTATTTTGCTGTAGCATAGTATTCTGTATGTCTCTCTAACTGGATATAAGTTCCATAAGTACAGGGCTATGTCTTATACAATATTCTCCACTGTATCCAACTTGTTGTTAAGTGG... | ATGAGTGATTGAGGATTTTAGTTTGTTCATGTAGTTTCACTTTTCTGAAAGTGGGATTAGGAAACTTTAAACTGTAGGTATATATATATATATATATATATATATGTATGAAACTAATGAAATATTTAGCGTTTCTTTTTATTATTTTTGTTGTGTTTTTATTATTGTTGCATTTCTTTTTATTATTTTTGATGTGTTTTTATTATTATTTTGCTGTAGCATAGTATTCTGTATGTCTCTCTAACTGGATATAAGTTCCATAAGTACAGGGCTATGTCTTATACAATATTCTCCACTGTATCCAACTTGTTGTTAAGTGG... | benign | 46,953 |
Benign or pathogenic: chromosome 2, position 177482198, gene AGPS (alkylglycerone phosphate synthase) variant? Disease(s) if pathogenic? | benign | AGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAATTTTAAAAAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCGTGCTGCTATAAAGACACATGCACACGTATGTTTAGTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTAGAAACCATCATTCTCAGCAAACTAT... | AGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAATTTTAAAAAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCGTGCTGCTATAAAGACACATGCACACGTATGTTTAGTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTAGAAACCATCATTCTCAGCAAACTAT... | benign | 46,961 |
Benign or pathogenic: chromosome 2, position 177629445, gene PDE11A (phosphodiesterase 11A) variant? Disease(s) if pathogenic? | benign | CTCCCCTCAATTCCATTTTGGTATCTTAATTTTACCCATTCCTTCTTCAGACATTTCCTGAATTGTCTACTGTGTGCCAGGAAAACAATGTCGCATGTAGAACATGGCCCCTATTTCTTTAATATCTGTAAAGTTAATGATTGATAATGATTAATAACAATAACAAGGGCCGGGTACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCAGAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCAAACATGGTGAAACCCTGTGTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCAG... | CTCCCCTCAATTCCATTTTGGTATCTTAATTTTACCCATTCCTTCTTCAGACATTTCCTGAATTGTCTACTGTGTGCCAGGAAAACAATGTCGCATGTAGAACATGGCCCCTATTTCTTTAATATCTGTAAAGTTAATGATTGATAATGATTAATAACAATAACAAGGGCCGGGTACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCAGAGGTGGGTGGCTCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCAAACATGGTGAAACCCTGTGTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGCAG... | benign | 46,985 |
For chromosome 2, position 177697404, gene PDE11A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pigmented_nodular_adrenocortical_disease,_primary,_2'] | GAAATATACAAAAAATAATTTTTAGTATAAATATGTCCCAAATGTTTCATGGGACATCTAACTATCTATTCTAAAAAAGTATTTATTGTTTATCTGAAATTTAAATGTAACTGGACTTTCTGTACTTCTACTTGCTAAATCTGACAACCCTGGGTGTATGGCTTATAGACTCCTAGCTTCTAAGTGCTTGGCTATGGCCTACAGGTTTTCAATCCAGAGACTGGTTCCACTTAACTTAATCTCTTCTTCTGAGCACTGTATCTCATTCCCACCCTGTGCCTCTCCTCAGTTCAGAGCTCTTCATTTTATTTCTCCAGAGG... | GAAATATACAAAAAATAATTTTTAGTATAAATATGTCCCAAATGTTTCATGGGACATCTAACTATCTATTCTAAAAAAGTATTTATTGTTTATCTGAAATTTAAATGTAACTGGACTTTCTGTACTTCTACTTGCTAAATCTGACAACCCTGGGTGTATGGCTTATAGACTCCTAGCTTCTAAGTGCTTGGCTATGGCCTACAGGTTTTCAATCCAGAGACTGGTTCCACTTAACTTAATCTCTTCTTCTGAGCACTGTATCTCATTCCCACCCTGTGCCTCTCCTCAGTTCAGAGCTCTTCATTTTATTTCTCCAGAGG... | pathogenic | 46,994 |
The chromosome 2, position 178436129 genetic variant in gene PRKRA: benign or pathogenic? If pathogenic, indicate disease(s). | benign | TATTGGATGAATGGTCTCTCATCAGCCACCTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCCACCTGAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCTTGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACC... | TATTGGATGAATGGTCTCTCATCAGCCACCTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCCACCTGAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCTTGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACC... | benign | 47,014 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178436328, gene PRKRA. What disease(s) is it linked to if pathogenic? | benign | TTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCAGCCTCTTTTCTTTTTTTTTTTTGAGACAAGTCTAACTCTGTCACCCAGGCTGGAGAGCAGCGGCATGATCATGGCTCACTGCTGCCTCAACCTCAGAGGCTCAAGTCATTGTCCCCACCTCAGCCTCCCTAGTAGACTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCATCAGCCA... | TTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCAGCCTCTTTTCTTTTTTTTTTTTGAGACAAGTCTAACTCTGTCACCCAGGCTGGAGAGCAGCGGCATGATCATGGCTCACTGCTGCCTCAACCTCAGAGGCTCAAGTCATTGTCCCCACCTCAGCCTCCCTAGTAGACTGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCATCAGCCA... | benign | 47,020 |
Gene PRKRA (protein activator of interferon induced protein kinase EIF2AK2) variant at chromosome position 178441714 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTCCTTATTTCTGATATTAATGGGAATGAGTATAATGTATAAATATATAACCATGATTTTGGTTTTTTTCCAAGTTTTTATCAGTAATGATTGCTGAGTTTTATCAAAATTTTTTTGGCATCCATTGAGAGGATTATATATTACTCTTTGACACATTAATGTGGTTAATTAAAGTAACCAACTTATTAACCTTGAAATAGTCTTAGTTAAATAAACCCTACTTGTCAATGCTATATCATTATTTTAATATTGTACTGAACATTTTACAAAGGTGTTTCACCATAAGGCATATTGATCTGTAATTTTTTTTTTTCTGTTGA... | GTCCTTATTTCTGATATTAATGGGAATGAGTATAATGTATAAATATATAACCATGATTTTGGTTTTTTTCCAAGTTTTTATCAGTAATGATTGCTGAGTTTTATCAAAATTTTTTTGGCATCCATTGAGAGGATTATATATTACTCTTTGACACATTAATGTGGTTAATTAAAGTAACCAACTTATTAACCTTGAAATAGTCTTAGTTAAATAAACCCTACTTGTCAATGCTATATCATTATTTTAATATTGTACTGAACATTTTACAAAGGTGTTTCACCATAAGGCATATTGATCTGTAATTTTTTTTTTTCTGTTGA... | benign | 47,023 |
A genetic alteration at chromosome 2, position 178451007, in gene PRKRA—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GGCCTCTGTGTCATCCAGGCAAAGATGCTCAGCAAGCACAGACTGATACACTATTCTGTAACTGGGCTTGGGATGTAGACAGACATTTCAGAATATTAGTCTTTAGACAGTATCAGAAGCCATGGAGGCAGATAAGCTTGCACAGGAAGCCATGGTAGTGTGAGAAGAGGGCGTAGGCAGAACGGTTGCCATAGGTTGTTAATTTGGGGTCTAAAACACATTGAGAGGGAAAAACCCTCCCTTTTCTTGAATTCTTCCTATCTAGAAATAGACTAGCTAAAGTAAGTAATGCAGTGTTGACTCTATGGTTCCCATGGGGA... | GGCCTCTGTGTCATCCAGGCAAAGATGCTCAGCAAGCACAGACTGATACACTATTCTGTAACTGGGCTTGGGATGTAGACAGACATTTCAGAATATTAGTCTTTAGACAGTATCAGAAGCCATGGAGGCAGATAAGCTTGCACAGGAAGCCATGGTAGTGTGAGAAGAGGGCGTAGGCAGAACGGTTGCCATAGGTTGTTAATTTGGGGTCTAAAACACATTGAGAGGGAAAAACCCTCCCTTTTCTTGAATTCTTCCTATCTAGAAATAGACTAGCTAAAGTAAGTAATGCAGTGTTGACTCTATGGTTCCCATGGGGA... | benign | 47,036 |
Variant in gene PJVK (pejvakin), located at chromosome 2 position 178453537: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | GTTGAGGCCTAAAGTTAAGCCTTTGTGGGGAGGACGGATTGGGGGCTGGGTCACTTTAAGAAAAAGATTCTAAAATTACGAAGGCAGAATTCCAGGGAGTCTCCCGGGCCTGGTCCTGAAGCTTGAGACCCCGGATATATACGCTCCAGGGGGCTGCGGTGCGCTCTTCGGGTCCCCGAGCCCTGTGTTTAGGAACACGCGGGGACGTCCAAACACCCGCTCCTCTCCCGCCGGGCGGGCTCCTTTGTCTTCTGGGCTTTCGTCGCGAGATGGAACGCTGGGTCAGTGCATCCCAGCAAAACACGTTAGGAGTAAACGAA... | GTTGAGGCCTAAAGTTAAGCCTTTGTGGGGAGGACGGATTGGGGGCTGGGTCACTTTAAGAAAAAGATTCTAAAATTACGAAGGCAGAATTCCAGGGAGTCTCCCGGGCCTGGTCCTGAAGCTTGAGACCCCGGATATATACGCTCCAGGGGGCTGCGGTGCGCTCTTCGGGTCCCCGAGCCCTGTGTTTAGGAACACGCGGGGACGTCCAAACACCCGCTCCTCTCCCGCCGGGCGGGCTCCTTTGTCTTCTGGGCTTTCGTCGCGAGATGGAACGCTGGGTCAGTGCATCCCAGCAAAACACGTTAGGAGTAAACGAA... | pathogenic | 47,049 |
Evaluate this variant at chromosome 2, position 178456019, gene PJVK (pejvakin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_59'] | CAATTCAATTATTACAATTGGTAAACTGAAATGTATTGAAGGGTAGGTTATATAATAAGCTGATATTTTGATGAGTTACTACTTATAAACGCTTATTTTTTCTTTTAATTGCCCGGTGGATCTTGATGCTTAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAA... | CAATTCAATTATTACAATTGGTAAACTGAAATGTATTGAAGGGTAGGTTATATAATAAGCTGATATTTTGATGAGTTACTACTTATAAACGCTTATTTTTTCTTTTAATTGCCCGGTGGATCTTGATGCTTAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAA... | pathogenic | 47,057 |
Is the genetic variant on chromosome 2, position 178461032, gene PJVK (pejvakin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_59'] | GGTAGATAGTAGGATGCCTGAAGTGTTAGGATGCCCAAACCAGGGCCTCTAAAGACAGCTTTTCTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTT... | GGTAGATAGTAGGATGCCTGAAGTGTTAGGATGCCCAAACCAGGGCCTCTAAAGACAGCTTTTCTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTT... | pathogenic | 47,065 |
Chromosome 2, position 178526912, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAAGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCGCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGCGAATGATGATTTCCAATTTCATCCATGTCCTTAC... | TTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAAGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCGCCTCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGCGAATGATGATTTCCAATTTCATCCATGTCCTTAC... | benign | 47,070 |
Is the genetic change at chromosome 2, position 178527098, within gene TTN benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Autosomal_recessive_titinopathy', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'TTN-rela... | ATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGCGAATGATGATTTCCAATTTCATCCATGTCCTTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTACATGTGCCACACTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTT... | ATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGCGAATGATGATTTCCAATTTCATCCATGTCCTTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTACATGTGCCACACTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTT... | pathogenic | 47,073 |
Chromosome 2, position 178527198, gene TTN: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Tibial_muscular_dystrophy'] | GAATGATGATTTCCAATTTCATCCATGTCCTTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTACATGTGCCACACTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGT... | GAATGATGATTTCCAATTTCATCCATGTCCTTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTACATGTGCCACACTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGT... | pathogenic | 47,080 |
Does the variant impacting TTN on chromosome 2, position 178527324, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTG... | ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTG... | benign | 47,085 |
Does the variant on chromosome 2 at location 178527324 affecting gene TTN have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTG... | ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGAGCTGCAATAAACATACGTGTGCATGTGTGTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTG... | benign | 47,086 |
Variant at chromosome position 178527481, chromosome 2, gene TTN: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'TTN-related_disorder'] | GAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCTTGTGTATTTTGGCTGCATAAATGTCTTTTTTTGAGAAGTGTCTGTTTGTATCCTTTGCCCACTTGTTGATGGGGTTGTTTTTTTCTTACACGTTTGTTTGAGTTCATTGTAGAT... | GAATCTCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCTTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCTTGTGTATTTTGGCTGCATAAATGTCTTTTTTTGAGAAGTGTCTGTTTGTATCCTTTGCCCACTTGTTGATGGGGTTGTTTTTTTCTTACACGTTTGTTTGAGTTCATTGTAGAT... | pathogenic | 47,089 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 178528523, gene TTN. What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1G', 'Primary_dilated_cardiomyopathy'] | TTAAAGTGTTGCTTACAGGAGGGTAAATGCAAACATCACCAATGCCTTACATTTCTGATTCAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCG... | TTAAAGTGTTGCTTACAGGAGGGTAAATGCAAACATCACCAATGCCTTACATTTCTGATTCAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCG... | pathogenic | 47,111 |
Regarding the variant at chromosome 2 and position 178528547, affecting gene TTN: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | AAATGCAAACATCACCAATGCCTTACATTTCTGATTCAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCA... | AAATGCAAACATCACCAATGCCTTACATTTCTGATTCAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCA... | pathogenic | 47,112 |
Determine whether the variant at chromosome 2, position 178528583, in gene TTN is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J'] | CAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCACTAGCAAATGTATTATATTCTTAGGTCAACAATTAT... | CAGTAGGTATTGGTGCACATATCAAGTGATATGCACAGCATCATTCTCTTTTAGGTGGACAGGACATCTTCAATGGGGATTTTCTCAACCCACTGAGGCATACTTAGACATCAACAGTATGTTGAGGCACAAAGATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCACTAGCAAATGTATTATATTCTTAGGTCAACAATTAT... | pathogenic | 47,114 |
Gene TTN variant at chromosome position 178528717 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Tip-toe_gait'] | ATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCACTAGCAAATGTATTATATTCTTAGGTCAACAATTATGAAAAGATTGAAATGAATATTTTTGAACTTTGACTCATTTAGGTTGATACAAAACTACTTTTTTTTCTTTAAATATTTACAGTTCAGAAAGATTAGTCCGTGTGAAACGTTTGCGAAAAGTTAAGAATGAGTGT... | ATTGATTAAATGTTGAGCAGGGTATTCGTTCCATAAGAAACTTTCTCCTACCAACAGTTAGTTTCAAAACTTACATTGTAAAATGTCATAAAATAAATGGTACAAAACTTTATAACCGTTAATCCGGCTATATACAGTATGTACATGTCACTAGCAAATGTATTATATTCTTAGGTCAACAATTATGAAAAGATTGAAATGAATATTTTTGAACTTTGACTCATTTAGGTTGATACAAAACTACTTTTTTTTCTTTAAATATTTACAGTTCAGAAAGATTAGTCCGTGTGAAACGTTTGCGAAAAGTTAAGAATGAGTGT... | pathogenic | 47,119 |
Is the genetic mutation found on chromosome 2 at position 178528970, within the gene TTN, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | TTTAAATATTTACAGTTCAGAAAGATTAGTCCGTGTGAAACGTTTGCGAAAAGTTAAGAATGAGTGTAGAGTATAAGGGCACAGGCCCTCTTAAATGGATCGAATATGTATATTCACAGTGGCAGAGTCAGATCCAAATTCATTCCCTAAACTCAGGGTATAAAGTCCACCATCTTGTTTCTGTACGTCCATGATGATCAGGGTTGTCAGGTCATCTGTGTTTTCAATGTGGAACCTCCCCTGTTCTTGACTGTGGATTTTTCTTCCACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTA... | TTTAAATATTTACAGTTCAGAAAGATTAGTCCGTGTGAAACGTTTGCGAAAAGTTAAGAATGAGTGTAGAGTATAAGGGCACAGGCCCTCTTAAATGGATCGAATATGTATATTCACAGTGGCAGAGTCAGATCCAAATTCATTCCCTAAACTCAGGGTATAAAGTCCACCATCTTGTTTCTGTACGTCCATGATGATCAGGGTTGTCAGGTCATCTGTGTTTTCAATGTGGAACCTCCCCTGTTCTTGACTGTGGATTTTTCTTCCACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTA... | pathogenic | 47,131 |
Is the variant located on chromosome 2 at position 178529121, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G', 'Early-onset_myopathy_with_fatal_cardiomyopathy', 'Hypertrophic_cardiomyopathy_9', 'Myopathy,_myofibrillar,_9,_with_early_respiratory_failure', 'Primary_dilated_cardiomyopathy', 'Tibial_muscular_dystrophy'] | CTCAGGGTATAAAGTCCACCATCTTGTTTCTGTACGTCCATGATGATCAGGGTTGTCAGGTCATCTGTGTTTTCAATGTGGAACCTCCCCTGTTCTTGACTGTGGATTTTTCTTCCACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTACTGTTAGAACTTTGCCTTCATCAATGCTGATATCAGATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTTATGGAACAATGACAAAAAAAAGGTCTTAGAATCACTGAAAAAAATAAAGATTTGCTTTCTACTGAATTGTGTGTACTAAAG... | CTCAGGGTATAAAGTCCACCATCTTGTTTCTGTACGTCCATGATGATCAGGGTTGTCAGGTCATCTGTGTTTTCAATGTGGAACCTCCCCTGTTCTTGACTGTGGATTTTTCTTCCACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTACTGTTAGAACTTTGCCTTCATCAATGCTGATATCAGATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTTATGGAACAATGACAAAAAAAAGGTCTTAGAATCACTGAAAAAAATAAAGATTTGCTTTCTACTGAATTGTGTGTACTAAAG... | pathogenic | 47,133 |
Is the variant located on chromosome 2 at position 178529237, gene TTN, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTACTGTTAGAACTTTGCCTTCATCAATGCTGATATCAGATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTTATGGAACAATGACAAAAAAAAGGTCTTAGAATCACTGAAAAAAATAAAGATTTGCTTTCTACTGAATTGTGTGTACTAAAGACTACACCATGTTACTTGGCTTGTCTACCTCTACCAGTAATTTTATTGCTCACCTCTTATGCCTGCTTTAAGCATTTTACTAGTTGAGCTTTCCAGTTGTGTCATATTAGATATTC... | ACCACAGGACCATGTTACTTCTGGGGTAGGCTCACCCGTGAAAGCACAGGCTACTGTTAGAACTTTGCCTTCATCAATGCTGATATCAGATGGAAGAGCTTCAATTTTAGGCGGAATTCCTTTATGGAACAATGACAAAAAAAAGGTCTTAGAATCACTGAAAAAAATAAAGATTTGCTTTCTACTGAATTGTGTGTACTAAAGACTACACCATGTTACTTGGCTTGTCTACCTCTACCAGTAATTTTATTGCTCACCTCTTATGCCTGCTTTAAGCATTTTACTAGTTGAGCTTTCCAGTTGTGTCATATTAGATATTC... | benign | 47,137 |
Variant at chromosome 2, position 178530355, gene TTN: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J', 'Dilated_cardiomyopathy_1G'] | GGCCACGGAAATTTTTGGCCTTAATTGTGTACTTTCCACTGTCGCTGACTGATGCATTTCGGATTTCAAGGGAGTATACATTTCTGGAGCGGCTTATGCTGACATTTGAAGAAATAGAAATCTAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCT... | GGCCACGGAAATTTTTGGCCTTAATTGTGTACTTTCCACTGTCGCTGACTGATGCATTTCGGATTTCAAGGGAGTATACATTTCTGGAGCGGCTTATGCTGACATTTGAAGAAATAGAAATCTAAGACAAAGGAAAAAGAAAAGAAATGTTGAAGTTCTTCAGATGTGGAAGACATGGTATTTTAGTTTTTCTTCAATAATATATTCATAATTAAACTTACTGGCAGGTTGTTTTTAAACCATTCGATTTCAGGGGATGGCTCGCCACTGATTTCACAAGTAAAGAGAACATTTTGTCCTTCATTAATATTTTGAGATCT... | pathogenic | 47,148 |
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