question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Is chromosome 14, position 21348183, gene RPGRIP1 (RPGR interacting protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cone-rod_dystrophy_13', 'Leber_congenital_amaurosis_6'] | TAACTAAGTGAATTTTAGATCTCCTTTAAAGTTTTAGGAAAGCTGGTTGTCCTTATTATTCCAATAATCTGAAGAAGGCCTCCTTTCAGAGTTTCCAGATAAAATGTGGGACATACCCAAAAAAAAATTATTTGGTCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAAATCAGCTAGGCATGGTGGCACATGCTGGTAATTCTAGCTACTCAGGAGGCTGA... | TAACTAAGTGAATTTTAGATCTCCTTTAAAGTTTTAGGAAAGCTGGTTGTCCTTATTATTCCAATAATCTGAAGAAGGCCTCCTTTCAGAGTTTCCAGATAAAATGTGGGACATACCCAAAAAAAAATTATTTGGTCGGGTGCAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAAATCAGCTAGGCATGGTGGCACATGCTGGTAATTCTAGCTACTCAGGAGGCTGA... | pathogenic | 218,064 |
A genetic alteration at chromosome 14, position 21391016, in gene CHD8 (chromodomain helicase DNA binding protein 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['CHD8-related_disorder', 'Intellectual_developmental_disorder_with_autism_and_macrocephaly', 'Neurodevelopmental_disorder'] | CTCTATGTCATTTAAAACAATGATTTATGTATGCTTTAAAAATACAACTATTGACCAGGCGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGTAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTAAAGGTTGCAGTGAGCTGAGATCAGTCCATTGCACTCCAGCCTGGGCAACAGAGCA... | CTCTATGTCATTTAAAACAATGATTTATGTATGCTTTAAAAATACAACTATTGACCAGGCGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGTAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTTGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTAAAGGTTGCAGTGAGCTGAGATCAGTCCATTGCACTCCAGCCTGGGCAACAGAGCA... | pathogenic | 218,085 |
Considering the variant on chromosome 14, location 21399997, involving gene CHD8 (chromodomain helicase DNA binding protein 8), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TAGCCTAGAAGAAAAAGGGTCATAGTTGAAGAAAATGAGATTTGTTTTGCCTTTATGCTTACTTTATATGCTGCTGGAATAATTAGAATATGTTCTATATTGCTCATAATGGAAAACAAAGTTAGAATGTTATCTTGGACAACTACTGGGTTTATTACTATATTTAACATTTTTATAGCAATTTAGAATCATGAAGAGTTTTTAACTAGTGACTGATAGCCTTAGGCTCCCAAAGTGTTGGGATTCCAGGTGTAAGCCACCATGCCTTGCCTGCAGTTTTATTTATTTTTATTTATTTATTTATTTTTTGAGATGGAGTC... | TAGCCTAGAAGAAAAAGGGTCATAGTTGAAGAAAATGAGATTTGTTTTGCCTTTATGCTTACTTTATATGCTGCTGGAATAATTAGAATATGTTCTATATTGCTCATAATGGAAAACAAAGTTAGAATGTTATCTTGGACAACTACTGGGTTTATTACTATATTTAACATTTTTATAGCAATTTAGAATCATGAAGAGTTTTTAACTAGTGACTGATAGCCTTAGGCTCCCAAAGTGTTGGGATTCCAGGTGTAAGCCACCATGCCTTGCCTGCAGTTTTATTTATTTTTATTTATTTATTTATTTTTTGAGATGGAGTC... | pathogenic | 218,134 |
Considering the genetic mutation at chromosome 14, position 21403648, impacting CHD8 (chromodomain helicase DNA binding protein 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | TTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCT... | TTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCT... | pathogenic | 218,167 |
Is the genetic mutation found on chromosome 14 at position 21408573, within the gene CHD8 (chromodomain helicase DNA binding protein 8), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | benign | 218,182 |
Is the chromosome 14, position 21408573 variant in CHD8 (chromodomain helicase DNA binding protein 8) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | benign | 218,183 |
A mutation at chromosome position 21408573 on chromosome 14 in gene CHD8 (chromodomain helicase DNA binding protein 8): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | CAACTAGCTGAACTCAGCCTAAGTGGTTGAGCTAGAAGATCATGAAAAATATAGTTGTTGTAGGACATTAAGTTTTGGAGTATTTTGTTATGCAGTAATAATAGGTAACCAATATAGTTTCCCACCTCCTCTTCTGGTTATCACTAAACTTCCCAATTCTAAAATGTATGACTTTTACACGACTTTCAGGTTACCATTCCCATAGGTCATCCCCACTGTTCAATACCACGATTCAGACTTTTCTTCTCTGCTAAACTAGGGTTATTTTAATACCGCAAGGAATTACGGTTTATTCCAGGTGTTTCTGCTCACAAGTCAGT... | benign | 218,184 |
The mutation in gene CHD8 (chromodomain helicase DNA binding protein 8) at chromosome 14, position 21415821—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTTTTTCTTCTACTTGCAACATACAACCAAAACTACTCTTATCAAGGATGAACGCCGCAAATATAACAGGCATATTTCTTCACTCATCTTGCTCCAGTGTTTAGGGGTAAACCTGGATATTGGAAATTAAAGCTCCTTTATCCCTATTTCTAATCACACTGGATTAGAAATTTGAGAAAACAAATGTTCTCTCTTAATAATAGGTCTACAGAAACCATCAATAGCTAAAGAAAGACAAAGAATGCCTCAAGTGGACCAGCAGTCAGTGTATCATCAGTTTTGAAAATACTTCATGTGCATTGAGGAAATCAGTTTCAAAA... | CTTTTTCTTCTACTTGCAACATACAACCAAAACTACTCTTATCAAGGATGAACGCCGCAAATATAACAGGCATATTTCTTCACTCATCTTGCTCCAGTGTTTAGGGGTAAACCTGGATATTGGAAATTAAAGCTCCTTTATCCCTATTTCTAATCACACTGGATTAGAAATTTGAGAAAACAAATGTTCTCTCTTAATAATAGGTCTACAGAAACCATCAATAGCTAAAGAAAGACAAAGAATGCCTCAAGTGGACCAGCAGTCAGTGTATCATCAGTTTTGAAAATACTTCATGTGCATTGAGGAAATCAGTTTCAAAA... | benign | 218,200 |
Evaluate the clinical significance of the mutation at chromosome 14, position 22773685 in gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lysinuric_protein_intolerance'] | CTTGCCCCAGTCCTAGGAACTGTGGCACACAGAGATGTTCATTTTAAAAACGGATTTCATGAAACACTCTTGTACTTATGTTTATAAGAGAGCACTGGGTAGCCAAGTGATCTTCCCATTCACAGAGTTAGTAAACCTCTGTACTACATGCTGCTTCCTGATACTTATTGAACAGGGAAATCAGTGTGCACTTCAGAAAACTGAAGAATACCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACGCCATCTCTGCTGTTTTACAAAAATAGCCAC... | CTTGCCCCAGTCCTAGGAACTGTGGCACACAGAGATGTTCATTTTAAAAACGGATTTCATGAAACACTCTTGTACTTATGTTTATAAGAGAGCACTGGGTAGCCAAGTGATCTTCCCATTCACAGAGTTAGTAAACCTCTGTACTACATGCTGCTTCCTGATACTTATTGAACAGGGAAATCAGTGTGCACTTCAGAAAACTGAAGAATACCCAGCATTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACGCCATCTCTGCTGTTTTACAAAAATAGCCAC... | pathogenic | 218,243 |
Gene SLC7A7 (solute carrier family 7 member 7) variant at chromosome position 22773966 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lysinuric_protein_intolerance'] | GGGGAAACGCCATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCA... | GGGGAAACGCCATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCA... | pathogenic | 218,250 |
Mutation found at chromosome 14 position 22773974, gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Lysinuric_protein_intolerance'] | GCCATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGG... | GCCATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGG... | pathogenic | 218,251 |
A genetic variant at chromosome 14, position 22773977, affecting gene SLC7A7 (solute carrier family 7 member 7)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lysinuric_protein_intolerance'] | ATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGG... | ATCTCTGCTGTTTTACAAAAATAGCCACACGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGG... | pathogenic | 218,252 |
Is the chromosome 14, position 22774006 variant in SLC7A7 (solute carrier family 7 member 7) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lysinuric_protein_intolerance'] | CGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAG... | CGTGGTGGTGCACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAG... | pathogenic | 218,257 |
Considering the variant on chromosome 14, location 22774036, involving gene SLC7A7 (solute carrier family 7 member 7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Lysinuric_protein_intolerance'] | CTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAA... | CTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAA... | pathogenic | 218,258 |
Considering the variant on chromosome 14, location 22774055, involving gene SLC7A7 (solute carrier family 7 member 7), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Lysinuric_protein_intolerance'] | AGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAA... | AGAATTGCTTGAATCCGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAA... | pathogenic | 218,259 |
The genetic variant at chromosome 14, position 22774092, affecting gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lysinuric_protein_intolerance'] | GCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGCGGCGGGTGC... | GCCAAGATCGCACCACCGCACTCCAGCCTGGGCAATAGAGGGAGACTGTCTCAAAAAAAAAAGAAAACTGAAGAATAGAGTGAGTCATGATTGCTTTTGCTGGCCCATGGCCTTGGAAAATATAATGTTTTAACCTGGCATTAAGGGTTTAAACTTCCACCCAGGCGCAGTGGCTCACGCCAGTAATCCCAGCACTTTTGGGAGGCCAAGGCGGGCGGATCACGAAGTCAGCAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGCGGCGGGTGC... | pathogenic | 218,261 |
Evaluate this variant at chromosome 14, position 22774354, gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lysinuric_protein_intolerance'] | AACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGCGGCGGGTGCCTGTATTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTA... | AACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAATTAGCCGGGCATGGCGGCGGGTGCCTGTATTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTA... | pathogenic | 218,263 |
Clinical classification of chromosome 14, position 22774410, gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Lysinuric_protein_intolerance'] | GCCTGTATTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTAACCGCACTTCTTGATCCCAAGATTACTTTAAAAATTTCAAGAAGTAGATGTGTGCA... | GCCTGTATTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTAACCGCACTTCTTGATCCCAAGATTACTTTAAAAATTTCAAGAAGTAGATGTGTGCA... | pathogenic | 218,265 |
The genetic variant at chromosome 14, position 22774447, affecting gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lysinuric_protein_intolerance'] | GAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTAACCGCACTTCTTGATCCCAAGATTACTTTAAAAATTTCAAGAAGTAGATGTGTGCAAATTCTTAGTGATAATTAAGAATGAAAGTTCCAGGCT... | GAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTTTAAACTTCCAACCCATGCATGTGTTGTTCTATGCACATTTGGATTGCAGTCTAGAGGTGTGGCTGATAAGTTGAATGTTGAGATTGTATCTAAATATAGTAACCGCACTTCTTGATCCCAAGATTACTTTAAAAATTTCAAGAAGTAGATGTGTGCAAATTCTTAGTGATAATTAAGAATGAAAGTTCCAGGCT... | pathogenic | 218,266 |
Variant at chromosome 14, position 22775530, gene SLC7A7 (solute carrier family 7 member 7): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Lysinuric_protein_intolerance'] | GTTGAAGCTGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGG... | GTTGAAGCTGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGG... | pathogenic | 218,276 |
Is the variant located on chromosome 14 at position 22778791, gene SLC7A7 (solute carrier family 7 member 7), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lysinuric_protein_intolerance'] | GGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTTCCTACTAAAAATATAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTG... | GGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTTCCTACTAAAAATATAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTG... | pathogenic | 218,292 |
A genetic alteration at chromosome 14, position 22778861, in gene SLC7A7 (solute carrier family 7 member 7)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Lysinuric_protein_intolerance'] | TAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGGAGGTCAAGGCTGCAGTGAACCATGACTGGGCCACTGCACTCCAGCCTGGGCAAGGCAGCCA... | TAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGGAGGTCAAGGCTGCAGTGAACCATGACTGGGCCACTGCACTCCAGCCTGGGCAAGGCAGCCA... | pathogenic | 218,298 |
Does the variant impacting SLC7A7 (solute carrier family 7 member 7) on chromosome 14, position 22779977, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lysinuric_protein_intolerance'] | GCCAGGCGTGGTGGCAGGCACCTGTAATTCTAGCTATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAA... | GCCAGGCGTGGTGGCAGGCACCTGTAATTCTAGCTATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAA... | pathogenic | 218,307 |
Gene SLC7A7 (solute carrier family 7 member 7) variant at chromosome position 22780005 on chromosome 14: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lysinuric_protein_intolerance'] | TCTAGCTATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCT... | TCTAGCTATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCT... | pathogenic | 218,308 |
Does the variant impacting SLC7A7 (solute carrier family 7 member 7) on chromosome 14, position 22780011, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lysinuric_protein_intolerance'] | TATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCTTGACTT... | TATTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCTTGACTT... | pathogenic | 218,310 |
A genetic variant at chromosome 14, position 22780034, affecting gene SLC7A7 (solute carrier family 7 member 7)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lysinuric_protein_intolerance'] | AATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCTTGACTTCCTGTCCAGTTCTCTTTTCACTC... | AATCACTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGAAATACAGCAAGACTCTCTCCAAAAAACAAAAAACATTTTACCGAAACTCCACTCCCTGGCAAATCTTAGTTCCCAGAATCATAGAATTTTAGAGCCAGGAAAGGCCATGGAGATCACAGAATTTAACCCCCTCAATTACAGATAAGGAAACAGGCAAAGAGATGGCCGGGCAACTCCCTCAAGGTTAGCCAACAAGTCAGTGGAAAGATCAACTCTAGGTCCTTGACTTCCTGTCCAGTTCTCTTTTCACTC... | pathogenic | 218,311 |
Assess the variant on chromosome 14, position 22812943, impacting SLC7A7 (solute carrier family 7 member 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lysinuric_protein_intolerance'] | TTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAACCTCAGTGAAAACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAAT... | TTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCGGAAAAAAAAAACCTCAGTGAAAACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAAT... | pathogenic | 218,318 |
Evaluate this variant at chromosome 14, position 22813021, gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lysinuric_protein_intolerance', 'SLC7A7-related_disorder'] | CGTCTCGGAAAAAAAAAACCTCAGTGAAAACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCC... | CGTCTCGGAAAAAAAAAACCTCAGTGAAAACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCC... | pathogenic | 218,321 |
For chromosome 14, position 22813049, gene SLC7A7 (solute carrier family 7 member 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lysinuric_protein_intolerance'] | AACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAA... | AACCCCCTTCTTGCAACACAAAGCAGTGCCTTCCACCCCTCCCTGACTGTTGCCATGTATGACAAACATCCCATATGCAGAGATGAGTCCAGGCCAGACACAAGGACACACAAAACACAGAAGGACCCCACAGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAA... | pathogenic | 218,323 |
Regarding the variant found on chromosome 14 at position 22813180 in gene SLC7A7 (solute carrier family 7 member 7): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lysinuric_protein_intolerance'] | AGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCA... | AGAAGACAGCCAGTTCTCTACACAACAGTAAAATCAGAGAAGCTGGAAAGGAAGTTGAGGAGTGAATGGGGCAATACAGAAATTGAAAGAAAAAAGGACACAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCA... | pathogenic | 218,327 |
A genetic variant at chromosome 14, position 22813280, affecting gene SLC7A7 (solute carrier family 7 member 7)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lysinuric_protein_intolerance'] | CAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAA... | CAAACTGATTGGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAA... | pathogenic | 218,330 |
Does the chromosome 14 mutation at position 22813290 within gene SLC7A7 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lysinuric_protein_intolerance'] | GGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCC... | GGAGAGCGGTGAGCCAATGAGCAATTGCACCTGGTGCAAAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCC... | pathogenic | 218,331 |
A genetic variant on chromosome 14, position 22813328, affects the gene SLC7A7. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Lysinuric_protein_intolerance'] | AAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCC... | AAATTCCTGTGCCCCAACTGCTAGAGCAGCTGCCCCTCAAATTGACAGAATGTCTGAGCTTCTTCACAGTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCC... | pathogenic | 218,334 |
Is the genetic mutation found on chromosome 14 at position 23321471, within the gene PABPN1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Oculopharyngeal_muscular_dystrophy', 'Oculopharyngeal_muscular_dystrophy_1'] | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | pathogenic | 218,402 |
Located at chromosome 14 position 23321471, the variant affecting gene PABPN1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Oculopharyngeal_muscular_dystrophy', 'Oculopharyngeal_muscular_dystrophy_1'] | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | pathogenic | 218,403 |
Does the genetic variant at chromosome 14, position 23321471, impacting gene PABPN1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Oculopharyngeal_muscular_dystrophy', 'Oculopharyngeal_muscular_dystrophy_1'] | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | TAGGCAAGTTTCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCA... | pathogenic | 218,404 |
Determine if the mutation at chromosome 14, position 23321481 in gene PABPN1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Oculopharyngeal_muscular_dystrophy'] | TCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCAGATCACTGAA... | TCTTCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCAGATCACTGAA... | pathogenic | 218,405 |
Clinically, how would you classify the variant at chromosome 14, position 23321484, gene PABPN1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Oculopharyngeal_muscular_dystrophy'] | TCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCAGATCACTGAAGCT... | TCATTTCATTAAGCCTTTTTCTTTTTCCCTAAAAAAGGTTATGGTTTTGGAAATACTTTCCCCGTGGGGTTGTTGTGAGAGTCCAGTGAAATAATAAGGAGTGGTGCTTATTACAAAATCAAACGCTCAACAAAAATAGGATTCAAAGCCATTTTTAAAAATCACATTTCCTTTTGTTGGCTTGATTAAATTGGGTACCAATAAGATTAACAAATCTTGATTAGGTTAAGATTAGTATAAAAGACCTTTCTTCCAGGGTATTCAATCATTTAGAGCTTGTCTTCGGTGCTCAACTTTAGTTATCCCAGATCACTGAAGCT... | pathogenic | 218,406 |
Considering the genetic mutation at chromosome 14, position 23389057, impacting MYH6 (myosin heavy chain 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTCCCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCC... | ATTCCCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCC... | benign | 218,559 |
Does the genetic variant at chromosome 14, position 23389058, impacting gene MYH6 (myosin heavy chain 6), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTCCCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCT... | TTCCCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCT... | benign | 218,560 |
Variant at chromosome position 23389061, chromosome 14, gene MYH6 (myosin heavy chain 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTA... | CCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTA... | benign | 218,561 |
Clinical significance of chromosome 14, position 23389061, gene MYH6 (myosin heavy chain 6): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTA... | CCAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTA... | benign | 218,562 |
Located at chromosome 14 position 23389062, the variant affecting gene MYH6 (myosin heavy chain 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAA... | CAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAA... | benign | 218,563 |
Regarding the variant at chromosome 14 and position 23389062, affecting gene MYH6 (myosin heavy chain 6): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAA... | CAGGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAA... | benign | 218,566 |
Variant on chromosome 14, at position 23389064, affecting MYH6 (myosin heavy chain 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAATC... | GGTGCTTAGAAATGAAGAGTAACAATAGCTAATATATATTAAGTGCTTAAATGTGTTACCTCATTTAATCTTTATAATAATCATGTGTAAAATCATATGAGGTATGTACAGTTAATTCCATTTTACAGATGAGAAAACTGAGGCAGAGAGAGATTAAAGATTTTGCCCAACGCTGCAGTGAAAGTCCTCAAGCTGTGTTCCAACTCAGGCCTGTTTGACTCTGGAACCCCACACTCCTACCCACTGTCTAAGTGGTTATTATTATGGCCAGATTCCAACTTTTAAAACCTGGTGGGAAACAAAACCTTTGGCCTCTAATC... | benign | 218,571 |
Variant on chromosome 14, at position 23392601, affecting MYH6 (myosin heavy chain 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTCAACTAGGGGCAATTTTGTGCCCCAGGGAACAGTTGGCAATGTCTGATTGTCATGTCTTGGTGGGGCTTGCTACTGGCATCTAGAGGGTAGGGGCCAGGGATGCTACTAAACATCCTATAATGCATAGGCCATCAATAGGAATTTGGCTGAAGCTCCCAAGGGCATCTCAGACCCAGTGTGAGCATCTGCAGCCCCAAATCCTGAGAACCTGTGGTTGAAGGGGGATCCTGGTATCCTGTGAGATCAAGAAGTTCAGAGTCCCCAGATTCACTAGGCTCTGTTGCGCTATTCATAAGACGGGAAAATGAGTGCTTGTA... | CTCAACTAGGGGCAATTTTGTGCCCCAGGGAACAGTTGGCAATGTCTGATTGTCATGTCTTGGTGGGGCTTGCTACTGGCATCTAGAGGGTAGGGGCCAGGGATGCTACTAAACATCCTATAATGCATAGGCCATCAATAGGAATTTGGCTGAAGCTCCCAAGGGCATCTCAGACCCAGTGTGAGCATCTGCAGCCCCAAATCCTGAGAACCTGTGGTTGAAGGGGGATCCTGGTATCCTGTGAGATCAAGAAGTTCAGAGTCCCCAGATTCACTAGGCTCTGTTGCGCTATTCATAAGACGGGAAAATGAGTGCTTGTA... | benign | 218,631 |
Mutation found at chromosome 14 position 23393536, gene MYH6 (myosin heavy chain 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGAAGATGGGAGGGCAAATTACTAATGAAGGCGGGCCAGTCCCTGTGCAGCCCCAGAGGAGTGGAATTGTGTTCATACATTACTTGCAGCCTGGGCCATGGGCCTCAAGTGCAGAGGGGAGACTACCTCTTTCTACCAGCCACAGTCTGCCCCAAAGTGAGAGGACAAGGTCCCGCCCCAGTAGCCGAGTTCCTGTTGCCCTTGGGGTCACTATGTCCAGACCTGGCCATGTAGCTTCTGTAGCTCTATAATGGGGATGGCAGTGGACTTCCAGGTCTCTTCTGACAAACCCGATACTAAAAGCACATTAGGGTTTGAGG... | AGAAGATGGGAGGGCAAATTACTAATGAAGGCGGGCCAGTCCCTGTGCAGCCCCAGAGGAGTGGAATTGTGTTCATACATTACTTGCAGCCTGGGCCATGGGCCTCAAGTGCAGAGGGGAGACTACCTCTTTCTACCAGCCACAGTCTGCCCCAAAGTGAGAGGACAAGGTCCCGCCCCAGTAGCCGAGTTCCTGTTGCCCTTGGGGTCACTATGTCCAGACCTGGCCATGTAGCTTCTGTAGCTCTATAATGGGGATGGCAGTGGACTTCCAGGTCTCTTCTGACAAACCCGATACTAAAAGCACATTAGGGTTTGAGG... | benign | 218,643 |
Considering the genetic mutation at chromosome 14, position 23400245, impacting MYH6 (myosin heavy chain 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAGTAGAGACGGGGTTTCACCATGTTGACCAGACTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAACCTCTACTTTTCTTCTTACACTTTATCCTCTTCATTTCAAGCCACATCCTTTCTCTTCCTTTTCTGAACTGGAGGCTCTTTTGTTCAGTGTCCTCTCAACATTTGTTGAGAACTCCCACATGCATCGTTCCCTGCTGGGCATGGTACAGGGATGCATGTGCCACCCTCACTGACCTCCAGTTACTCCCCATCTTGAGGAAACA... | TAGTAGAGACGGGGTTTCACCATGTTGACCAGACTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAACCTCTACTTTTCTTCTTACACTTTATCCTCTTCATTTCAAGCCACATCCTTTCTCTTCCTTTTCTGAACTGGAGGCTCTTTTGTTCAGTGTCCTCTCAACATTTGTTGAGAACTCCCACATGCATCGTTCCCTGCTGGGCATGGTACAGGGATGCATGTGCCACCCTCACTGACCTCCAGTTACTCCCCATCTTGAGGAAACA... | benign | 218,720 |
Located at chromosome 14 position 23414104, the variant affecting gene MYH7 (myosin heavy chain 7)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACC... | AATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACC... | benign | 218,865 |
Evaluate if the mutation on chromosome 14 at position 23415369 in MYH7 is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTG... | TGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTG... | benign | 218,906 |
Considering the genetic mutation at chromosome 14, position 23415475, impacting MYH7: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Congenital_myopathy_with_fiber_type_disproportion', 'Hypertrophic_cardiomyopathy', 'MYH7-related_skeletal_myopathy'] | TTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAA... | TTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAA... | pathogenic | 218,913 |
A genetic alteration at chromosome 14, position 23416104, in gene MYH7—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Abnormality_of_the_musculature', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy', 'MYH7-related_skeletal_myopathy'] | TCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTC... | TCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTC... | pathogenic | 218,965 |
Mutation found at chromosome 14 position 23416854, gene MYH7: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCT... | AGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCT... | benign | 218,995 |
Classify the chromosome 14 variant at position 23418416 affecting gene MYH7 (myosin heavy chain 7) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAG... | TGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAG... | benign | 219,096 |
Mutation found at chromosome 14 position 23420200, gene MYH7 (myosin heavy chain 7): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy', 'Inborn_genetic_diseases', 'MYH7-related_disorder'] | GGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCC... | GGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCC... | pathogenic | 219,177 |
The mutation in gene MYH7 (myosin heavy chain 7) at chromosome 14, position 23420236—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCC... | AGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCC... | benign | 219,180 |
Does the variant impacting MYH7 (myosin heavy chain 7) on chromosome 14, position 23422330, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAAATGAGAGAGCCGTATTTGTCTGACCAGACAACTAAAGACCTAACACAGCTTCTGCTCTAGAGT... | GGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAAATGAGAGAGCCGTATTTGTCTGACCAGACAACTAAAGACCTAACACAGCTTCTGCTCTAGAGT... | benign | 219,212 |
Clinically, how would you classify the variant at chromosome 14, position 23424035, gene MYH7 (myosin heavy chain 7): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypertrophic_cardiomyopathy'] | AGGACCATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTT... | AGGACCATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTT... | pathogenic | 219,248 |
Determine if the mutation at chromosome 14, position 23424906 in gene MYH7 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1S', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGA... | TGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGA... | pathogenic | 219,305 |
Is chromosome 14, position 23428711, gene MYH7 (myosin heavy chain 7) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGAT... | AGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGAT... | benign | 219,496 |
Evaluate if the mutation on chromosome 14 at position 23431015 in MYH7 (myosin heavy chain 7) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGG... | GAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGG... | benign | 219,587 |
The mutation impacting MYH7 (myosin heavy chain 7) on chromosome 14 at position 23431583: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1S', 'Hypertrophic_cardiomyopathy', 'Hypertrophic_cardiomyopathy_1', 'MYH7-related_skeletal_myopathy', 'Myopathy,_myosin_storage,_autosomal_recessive', 'Myosin_storage_myopathy', 'likely other unspecified diseases'] | GCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCT... | GCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCT... | pathogenic | 219,604 |
The genetic variant at chromosome 14, position 23433235, affecting gene MYH7 (myosin heavy chain 7): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGA... | AGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGA... | benign | 219,680 |
Evaluate the clinical significance of the mutation at chromosome 14, position 24082625 in gene NRL (neural retina leucine zipper): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type', 'Retinitis_pigmentosa_27'] | GGGGATCCCATGGAAGAGCTGGGACTAGGACCCAGGTTTCCAGACTTCTGCACACAGCTCTCTCCCAACCCACACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACT... | GGGGATCCCATGGAAGAGCTGGGACTAGGACCCAGGTTTCCAGACTTCTGCACACAGCTCTCTCCCAACCCACACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACT... | pathogenic | 219,729 |
Considering the genetic mutation at chromosome 14, position 24103500, impacting NRL: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACATGTGCCACTGACTTAGTCCCAACCCCCCTCCAGGACACCTGAAGGTGCCAAGTGTGACCTGGGCTCCTGAGGTTATCCCTACCCATGTGATATCCCTATCTCTATTTTTCCAGCCCTATCACTTCATCAGGGTCTAAGCAGGGCAGGGAAATCACCAACATGTTGTTAGCTTTAAAATCAATTCCTTGCAGGGCACAGTGACTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAACATGGCAAAACCCCGTCTCCAATAAAATACAAAAA... | ACATGTGCCACTGACTTAGTCCCAACCCCCCTCCAGGACACCTGAAGGTGCCAAGTGTGACCTGGGCTCCTGAGGTTATCCCTACCCATGTGATATCCCTATCTCTATTTTTCCAGCCCTATCACTTCATCAGGGTCTAAGCAGGGCAGGGAAATCACCAACATGTTGTTAGCTTTAAAATCAATTCCTTGCAGGGCACAGTGACTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCAACATGGCAAAACCCCGTCTCCAATAAAATACAAAAA... | benign | 219,745 |
A genetic variant on chromosome 14, position 24241328, affects the gene TINF2 (TERF1 interacting nuclear factor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGA... | GTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGA... | benign | 219,834 |
Clinical significance of chromosome 14, position 24241613, gene TINF2 (TERF1 interacting nuclear factor 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTG... | GGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTG... | benign | 219,835 |
Does the variant impacting TGM1 (transglutaminase 1) on chromosome 14, position 24249506, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | CTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCTGGTCTACCTTCCCTTTTATAATATGGTCTTCCTCCTGAGCTTCGAATTTCTGTGCATGGCACCTCTCTTCGTGGCACCCATGAGTCAGAAACTCAGGCCACCACCCTTATCTCTGCCCTCCCTCCTCTCCAAATTGAATCTGTTATCAAGTCTAATCAGTTCTATTTCCTATACAACGTTCAAACCCACCCTTTTTTTTTCATTCGTACTGCTTCTACCCTAATTCAGGTTCTCCTATCTCTCATCCCA... | CTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCTGGTCTACCTTCCCTTTTATAATATGGTCTTCCTCCTGAGCTTCGAATTTCTGTGCATGGCACCTCTCTTCGTGGCACCCATGAGTCAGAAACTCAGGCCACCACCCTTATCTCTGCCCTCCCTCCTCTCCAAATTGAATCTGTTATCAAGTCTAATCAGTTCTATTTCCTATACAACGTTCAAACCCACCCTTTTTTTTTCATTCGTACTGCTTCTACCCTAATTCAGGTTCTCCTATCTCTCATCCCA... | pathogenic | 219,857 |
Is the variant located on chromosome 14 at position 24249521, gene TGM1 (transglutaminase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | TCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCTGGTCTACCTTCCCTTTTATAATATGGTCTTCCTCCTGAGCTTCGAATTTCTGTGCATGGCACCTCTCTTCGTGGCACCCATGAGTCAGAAACTCAGGCCACCACCCTTATCTCTGCCCTCCCTCCTCTCCAAATTGAATCTGTTATCAAGTCTAATCAGTTCTATTTCCTATACAACGTTCAAACCCACCCTTTTTTTTTCATTCGTACTGCTTCTACCCTAATTCAGGTTCTCCTATCTCTCATCCCAAGAGGACTCTATCTT... | TCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACCGTGCCTGGTCTACCTTCCCTTTTATAATATGGTCTTCCTCCTGAGCTTCGAATTTCTGTGCATGGCACCTCTCTTCGTGGCACCCATGAGTCAGAAACTCAGGCCACCACCCTTATCTCTGCCCTCCCTCCTCTCCAAATTGAATCTGTTATCAAGTCTAATCAGTTCTATTTCCTATACAACGTTCAAACCCACCCTTTTTTTTTCATTCGTACTGCTTCTACCCTAATTCAGGTTCTCCTATCTCTCATCCCAAGAGGACTCTATCTT... | pathogenic | 219,858 |
Located at chromosome 14 position 24255021, the variant affecting gene TGM1 (transglutaminase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GTGTGCCCTCACTACACCCAGGGGCTTGCCCAGCCCAGGATCAGGCCCAGACGGGCTGGGTAAGGGCCTGAGGGATGGAGTTCTCTCCTCTGGAACTGCTACTTGGCCCTCATGGCACAAAACAAACAATGAGTTTGAGAGCCTGTGCATGGTATGCACCACAGTGGGAAGAGCAGAGTTTGCCCCCTACGAGCTGTGAGACCATATGAGATGTGACCGCCAGCTTCCCCATCTGTAAGTGGGGGTAATAATGGCAATAATAAAAATAACAACTACCAATGGAGCACTAACTTTGTGCCAAGCAGTGCACTAAACAACCC... | GTGTGCCCTCACTACACCCAGGGGCTTGCCCAGCCCAGGATCAGGCCCAGACGGGCTGGGTAAGGGCCTGAGGGATGGAGTTCTCTCCTCTGGAACTGCTACTTGGCCCTCATGGCACAAAACAAACAATGAGTTTGAGAGCCTGTGCATGGTATGCACCACAGTGGGAAGAGCAGAGTTTGCCCCCTACGAGCTGTGAGACCATATGAGATGTGACCGCCAGCTTCCCCATCTGTAAGTGGGGGTAATAATGGCAATAATAAAAATAACAACTACCAATGGAGCACTAACTTTGTGCCAAGCAGTGCACTAAACAACCC... | pathogenic | 219,867 |
The genetic variant at chromosome 14, position 24255456, affecting gene TGM1 (transglutaminase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | CATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACT... | CATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACT... | pathogenic | 219,874 |
Does the genetic variant at chromosome 14, position 24256042, impacting gene TGM1 (transglutaminase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... | AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCC... | pathogenic | 219,878 |
Variant in gene TGM1 (transglutaminase 1), located at chromosome 14 position 24256064: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | AGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAA... | AGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAA... | pathogenic | 219,882 |
Clinically, how would you classify the variant at chromosome 14, position 24258355, gene TGM1 (transglutaminase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | TCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGT... | TCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGT... | pathogenic | 219,883 |
A mutation at chromosome position 24258588 on chromosome 14 in gene TGM1 (transglutaminase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | CACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGC... | CACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGC... | pathogenic | 219,886 |
Determine if the mutation at chromosome 14, position 24258605 in gene TGM1 (transglutaminase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCAT... | GATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCAT... | pathogenic | 219,887 |
Variant in gene TGM1 (transglutaminase 1), located at chromosome 14 position 24258673: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTA... | GTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTA... | pathogenic | 219,893 |
Regarding the variant at chromosome 14 and position 24259225, affecting gene TGM1 (transglutaminase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGA... | GCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGA... | pathogenic | 219,904 |
Variant on chromosome 14, at position 24260013, affecting TGM1 (transglutaminase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1', 'Lamellar_ichthyosis'] | AAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTAC... | AAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAGGCAAATAGAGAGTTATATAGAATGGTAAAAATAAACTAACATCCACGTGGTGGTTCAGCTGACAAACCCGTTTAAGAAGCCGCGGGGTTACATGGCTTGGCTCTCCGGCCCGGCCCAGCACTGACACTCTGGACTGTGTTAATCAGGTGGGGGAGATAAGCAGGGGCATGGTGGGGAGTGGGGGGCCCAGCTTAC... | pathogenic | 219,925 |
For chromosome 14, position 24260640, gene TGM1 (transglutaminase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | TCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCT... | TCCATGGTAAGGGATGTGTCTGTGTCGTGGGCGGAGTTGAAGTTGGTGACAGTACGGGTGGCCAGACCCAGGCAGCGCAGCACTGTGGAGGAGCGAAGGTTGGGGTTCAAGGCATGGGTTGGGGGCAAGTGAGGCATCGTGTCAGGAGTATCAGGGGGAGAAGGGCAACTAGGATTGCCAAGCTGGGCATAGACTGCCAGGGTCAGGGCCACGGGGGCCACAAGGCCTTTGGGCTACAGAGCACTTGGGGTCAGGGGAAGCTAGGCCACCTGCCTGGCTCAGTCCTTGCCTGTCCCTTCTCCCTCCTTTCCCTTAGGCCT... | pathogenic | 219,938 |
Considering the variant on chromosome 14, location 24261714, involving gene TGM1 (transglutaminase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | ACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCG... | ACACACACAGTAGGACTCAGAGATGTGAGGGTGCTCACCATGGCAGAGATGACCCGGGAGACATTGACTGGGTCTCCACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCG... | pathogenic | 219,940 |
Clinically, how would you classify the variant at chromosome 14, position 24261791, gene TGM1 (transglutaminase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | ACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGT... | ACGGCCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGT... | pathogenic | 219,948 |
Considering the genetic mutation at chromosome 14, position 24261795, impacting TGM1 (transglutaminase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_skin', 'Autosomal_recessive_congenital_ichthyosis_1'] | CCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCC... | CCTCCATATGGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCC... | pathogenic | 219,950 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 24261804, gene TGM1 (transglutaminase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACAC... | GGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACAC... | pathogenic | 219,953 |
Chromosome 14, position 24261804, gene TGM1 (transglutaminase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_congenital_ichthyosis_1'] | GGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACAC... | GGCATCCCCCGCCGGTCCAGGATGTATAAGCAGGCATCCAGCACCCCGTGGTCAAACTGGAAGGAGGGATGGAGGGCAGAGGTGACAGCCTGAACCCTAGGCCAGCACCCTGCTCCAATACCCCAGCCCCCACACCCACCCCAGCTCCTCTGGGTGTATGTGACCCTGGCCAGCCGCACCATACCTGGCCGTAGTTCCAGGTCCGCTCACCAATCTGTGCTTCGGTCCCGTAGTAAATTCTCCCAGACTCATTAAGAACATACTCCTGCCGCCAATCCTCATGGTCCACGTACACAATGTCCTCTGTGTCCCCAGAACAC... | pathogenic | 219,954 |
Variant in gene FOXG1 (forkhead box G1), located at chromosome 14 position 28767392: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACGGGATCCTTTTAAAGCCCCCGATTCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAAC... | ACGGGATCCTTTTAAAGCCCCCGATTCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAAC... | benign | 219,998 |
Classify the chromosome 14 variant at position 28767417 affecting gene FOXG1 (forkhead box G1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | benign | 220,001 |
Is the genetic change at chromosome 14, position 28767417, within gene FOXG1 (forkhead box G1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | benign | 220,002 |
The mutation impacting FOXG1 (forkhead box G1) on chromosome 14 at position 28767417: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | benign | 220,003 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 28767417, gene FOXG1 (forkhead box G1). What disease(s) is it linked to if pathogenic? | benign | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | benign | 220,004 |
Variant at chromosome 14, position 28767417, gene FOXG1 (forkhead box G1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | TCGCAATTTCCCCATTCACTTCAACCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTC... | benign | 220,005 |
Regarding the variant found on chromosome 14 at position 28767441 in gene FOXG1 (forkhead box G1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGA... | CCTCCAACCGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGA... | benign | 220,009 |
The mutation in gene FOXG1 (forkhead box G1) at chromosome 14, position 28767449—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['FOXG1_disorder', 'Rett_syndrome,_congenital_variant'] | CGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGC... | CGAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGC... | pathogenic | 220,011 |
Clinical significance of chromosome 14, position 28767450, gene FOXG1 (forkhead box G1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCT... | GAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCT... | benign | 220,012 |
Clinical classification of chromosome 14, position 28767450, gene FOXG1 (forkhead box G1): benign or pathogenic? Disease(s) if pathogenic? | benign | GAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCT... | GAACCTTCCCAGTTCCAAAGCCCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCT... | benign | 220,013 |
Clinical significance of chromosome 14, position 28767471, gene FOXG1 (forkhead box G1): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | benign | 220,017 |
Is the chromosome 14, position 28767471 variant in FOXG1 (forkhead box G1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | benign | 220,018 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 14, position 28767471, gene FOXG1 (forkhead box G1). What disease(s) is it linked to if pathogenic? | benign | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | benign | 220,019 |
Determine if the mutation at chromosome 14, position 28767471 in gene FOXG1 (forkhead box G1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | CCAAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGA... | benign | 220,020 |
Mutation found at chromosome 14 position 28767473, gene FOXG1 (forkhead box G1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAA... | AAGAAGCTGGGACTGTGAGATCCACGTTCCCAAGGCTCCCCGGTGCTTTCCAGCAGCACTCAGGGTTGGCAAGAGCTGGCTTCAGTATACTGTTATTTCAGGAATGAGGCCCGCACAAAATAAAAGCATTTGAGAAACGGAAAGGAAAAAAAAGGAGTGAAAATAGGAAGGCTTAAAAAAAAAACCGGAAAGAAATAGACGCCCACCCTTATTTTCCCTCCAATGTCAACAAGCAAAACGAAAATATTTCCAGGGTGATCGCTCGCAGCTACCCGCTTCCAATTCGGATTAGAAGCTGAGGCTGGAGCGGCGAGGAGAAA... | benign | 220,021 |
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