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 |
|---|---|---|---|---|---|
Does the variant on chromosome 6 at location 52056800 affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGATTTAAGAAGTGTTTGCGAAATGCATCAGACAATTCA... | CACTTCCCCAGTTGCAACAACGAAAACTGTCTCCATACATTGCCAACTCTTCCCTGGGGGGCAAAATCACCTCCACTGGGCGCCCCTGCAGAAGAGATGAGGCTGAAGAAGGGAGGAGCTCAAGCCTGAAACATTTAGCCCCAACTCCCACAGCAGCCCAACTAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGATTTAAGAAGTGTTTGCGAAATGCATCAGACAATTCA... | benign | 109,138 |
Is the genetic mutation found on chromosome 6 at position 52056962, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGATTTAAGAAGTGTTTGCGAAATGCATCAGACAATTCAATCCATCAATAATGACAACAACTAGAGTAATAATAATTAGCCTTCACTGGGTCCTAACTGTGCAGGCACTTTACTAGATTATCTCATTTAATCTATACCACAGTCCTGAGAGATAGACCACATTACTGTCCATTTTACAGATGAGTAAATGAAGGCATACTG... | TAGGAAAAGACTAGAAACTACTGCCATGAGCTCCACCACTCCAGCAAAACTCACTCTGGTTCCCAAAGGGCAAATCAGCTGCACTTCTTTTACAAGGGTGGTGGAGCTATCGAAGCAAAGGATTTAAGAAGTGTTTGCGAAATGCATCAGACAATTCAATCCATCAATAATGACAACAACTAGAGTAATAATAATTAGCCTTCACTGGGTCCTAACTGTGCAGGCACTTTACTAGATTATCTCATTTAATCTATACCACAGTCCTGAGAGATAGACCACATTACTGTCCATTTTACAGATGAGTAAATGAAGGCATACTG... | pathogenic | 109,144 |
The mutation impacting PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) on chromosome 6 at position 52058342: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | AAAACATACCCTAACATTTTAAGAATTTCTTAAGACTACTTTCTTAAGTAGTAATTCCTTTAGATGTAATCTGAAGATTAGCATGGTTTTGGCTATGTTTGCATGTTTCTCACCTATGTCTTTGACCTTTTCCCACCGTGTGGCATGGGGAGTATAGGAGGGTGCTGCACTCTACCTAACAGCCCAGGAGGAATGCCTTTCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGA... | AAAACATACCCTAACATTTTAAGAATTTCTTAAGACTACTTTCTTAAGTAGTAATTCCTTTAGATGTAATCTGAAGATTAGCATGGTTTTGGCTATGTTTGCATGTTTCTCACCTATGTCTTTGACCTTTTCCCACCGTGTGGCATGGGGAGTATAGGAGGGTGCTGCACTCTACCTAACAGCCCAGGAGGAATGCCTTTCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGA... | pathogenic | 109,147 |
Mutation found at chromosome 6 position 52058496, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TAGGAGGGTGCTGCACTCTACCTAACAGCCCAGGAGGAATGCCTTTCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAA... | TAGGAGGGTGCTGCACTCTACCTAACAGCCCAGGAGGAATGCCTTTCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAA... | pathogenic | 109,156 |
Is the genetic mutation found on chromosome 6 at position 52058541, within the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAACTCCTCAATGGTTGTTTGAATCTATTACAAAGGAAAAAAATGCCA... | TCCTTTCTATTGACACCCACCGAGCATCAACCTCCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAACTCCTCAATGGTTGTTTGAATCTATTACAAAGGAAAAAAATGCCA... | pathogenic | 109,157 |
A genetic variant on chromosome 6, position 52058574, affects the gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAACTCCTCAATGGTTGTTTGAATCTATTACAAAGGAAAAAAATGCCAGGAATTTATATCATGAGCATAAAGACCACCCCC... | CCCAAGCACAGTGCAGTGCCAGTCCCTCAGCCACTCAGTGTCCAAATCCAGGTTTCATATTTTTTTTTTACTCTGTTATCACCTTGGAGAGGAAATGGGGATTGTTCTCATTTTATAGAAAGAAAGAAGACCATGATGAAAAAGACAATCAGAATGAAGCCACGGACAGCACCTCGTTCAAATCCAAGCCGGAGAAGGATGTTAGACCAAAGGGGTTCCAGTTTGCATTTTACTGCAAGTAACTCCTCAATGGTTGTTTGAATCTATTACAAAGGAAAAAAATGCCAGGAATTTATATCATGAGCATAAAGACCACCCCC... | pathogenic | 109,160 |
Located at chromosome 6 position 52059933, the variant affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AAATATGGGGCACAGCTGAGAGACCCAAAGGACATGACCTTTTCAAAGTAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTC... | AAATATGGGGCACAGCTGAGAGACCCAAAGGACATGACCTTTTCAAAGTAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTC... | pathogenic | 109,167 |
A genetic alteration at chromosome 6, position 52059955, in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | ACCCAAAGGACATGACCTTTTCAAAGTAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGA... | ACCCAAAGGACATGACCTTTTCAAAGTAGACTTAGAAAACACAGGCTATAGGGAAATAGGACCTCAATCAGTCAAAAATTATGGAATTTAATGTGTATATGCTCACATGCATGCACGCATACATGTCGGGCGTGTGTTTAGAGGACCTTGTCTCTTTTCTGGGAAATAAGTTTCTAAAAGAAGACTTGCTTGGAACTTAAATTCCTAAAACTAACTCAATGAGTAAGATAATCTCAGGAATAAGACATCACATTTTTGTAAACATCTTCACAATGCTGTTAAAGAGATATCCTATTTCTTTGACAGCAAGGTTATAATGA... | pathogenic | 109,168 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 52062603, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | AACTTTGAAGAAGATTACAGGCAATTTCATAAAACATTTTTTAAAAGATAATATTTTTAATATTTAAATTCCAGCAACCTAATATTATAGGCAGATATAGTTAAAGAACTGATTAGACTCTGTAAATAAATACCAAGAATATTTTCTGATAATGCTATTTTCTTAAATCTTCAGATGATCAATATAAAGATGTTTTTAAATTTTGCTTTAATGTACATACATTATCTTTATTTTTGAGATAATTTCATACCTAAAAATAGCTTCAAACATAACTACTTTAAAAGTCCACAATATAATTATATTAACTTACCAATAAATGA... | AACTTTGAAGAAGATTACAGGCAATTTCATAAAACATTTTTTAAAAGATAATATTTTTAATATTTAAATTCCAGCAACCTAATATTATAGGCAGATATAGTTAAAGAACTGATTAGACTCTGTAAATAAATACCAAGAATATTTTCTGATAATGCTATTTTCTTAAATCTTCAGATGATCAATATAAAGATGTTTTTAAATTTTGCTTTAATGTACATACATTATCTTTATTTTTGAGATAATTTCATACCTAAAAATAGCTTCAAACATAACTACTTTAAAAGTCCACAATATAATTATATTAACTTACCAATAAATGA... | pathogenic | 109,174 |
Does the chromosome 6 mutation at position 52064976 within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GTGAATTGAATGAGCAAACAGAAGCTGAGGCTGAGTAAAAGGAGGACAATGTGACTGTGTGCTGGTGACGTGGCTTGGCTTTGTGCTTCCCAAAGCCAGAAGTGGGCTTCAGTATCTTTTAAGTCCCAGTTCTGCTGTGAAATTCAATTCTCTAAAGTCTTTTTTCCCCATAACATTGGCAATCCTTAAGTTTCTCAAGTGTCATGGCCTCAATTTGTGGACCTGCACACAGAGCCAAATATGTGGCATGCTGCTATTATGTGACATTTTAAATGATATTGTATTAATTTATATTTTGTGTTAAGCAAACCCTGAGGCCA... | GTGAATTGAATGAGCAAACAGAAGCTGAGGCTGAGTAAAAGGAGGACAATGTGACTGTGTGCTGGTGACGTGGCTTGGCTTTGTGCTTCCCAAAGCCAGAAGTGGGCTTCAGTATCTTTTAAGTCCCAGTTCTGCTGTGAAATTCAATTCTCTAAAGTCTTTTTTCCCCATAACATTGGCAATCCTTAAGTTTCTCAAGTGTCATGGCCTCAATTTGTGGACCTGCACACAGAGCCAAATATGTGGCATGCTGCTATTATGTGACATTTTAAATGATATTGTATTAATTTATATTTTGTGTTAAGCAAACCCTGAGGCCA... | pathogenic | 109,179 |
Is the genetic change at chromosome 6, position 52065000, within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | CTGAGGCTGAGTAAAAGGAGGACAATGTGACTGTGTGCTGGTGACGTGGCTTGGCTTTGTGCTTCCCAAAGCCAGAAGTGGGCTTCAGTATCTTTTAAGTCCCAGTTCTGCTGTGAAATTCAATTCTCTAAAGTCTTTTTTCCCCATAACATTGGCAATCCTTAAGTTTCTCAAGTGTCATGGCCTCAATTTGTGGACCTGCACACAGAGCCAAATATGTGGCATGCTGCTATTATGTGACATTTTAAATGATATTGTATTAATTTATATTTTGTGTTAAGCAAACCCTGAGGCCAAAGGCACAGGTGCAATCAATATTG... | CTGAGGCTGAGTAAAAGGAGGACAATGTGACTGTGTGCTGGTGACGTGGCTTGGCTTTGTGCTTCCCAAAGCCAGAAGTGGGCTTCAGTATCTTTTAAGTCCCAGTTCTGCTGTGAAATTCAATTCTCTAAAGTCTTTTTTCCCCATAACATTGGCAATCCTTAAGTTTCTCAAGTGTCATGGCCTCAATTTGTGGACCTGCACACAGAGCCAAATATGTGGCATGCTGCTATTATGTGACATTTTAAATGATATTGTATTAATTTATATTTTGTGTTAAGCAAACCCTGAGGCCAAAGGCACAGGTGCAATCAATATTG... | pathogenic | 109,180 |
Regarding the variant at chromosome 6 and position 52066003, affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | GCAGACTCTCTATTTCCTGACAGGAAACACACATTATCTTGATTACTTGTTTCAGTAGTTTTGTTTCCTTGGATGGAAGCTTTCCCTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCC... | GCAGACTCTCTATTTCCTGACAGGAAACACACATTATCTTGATTACTTGTTTCAGTAGTTTTGTTTCCTTGGATGGAAGCTTTCCCTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCC... | pathogenic | 109,187 |
Variant chromosome 6, position 52066066, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTCCTTGGATGGAAGCTTTCCCTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCCCTTCATCCCTGACTACACTTGAGCCTTCAGTTCTAATGCTCAGCAGAAAAGTGCTCCAGTATT... | TTTCCTTGGATGGAAGCTTTCCCTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCCCTTCATCCCTGACTACACTTGAGCCTTCAGTTCTAATGCTCAGCAGAAAAGTGCTCCAGTATT... | pathogenic | 109,190 |
Does the chromosome 6 mutation at position 52066088 within gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCCCTTCATCCCTGACTACACTTGAGCCTTCAGTTCTAATGCTCAGCAGAAAAGTGCTCCAGTATTGTGCTCTTAATTTGCTGCTGTA... | CTGAGTAAAAACTGCAGATCTGGGAGCTGGAGAATTCTCAAGCCAAAACTTTGCATGCATTTTCACACCTGAATGCCCTTTCTTTAGAAAGGTTTCTTCCCCTGCTGGGCAACTTTCCTTGTAGGTGCTGTGCCTCTAGAGTTGACTCTCGCTGCCTGTAGTTTAACCATTAAGTCAGGCCCTTGGGCACAGATGTGCAGCCTGTGGTTCTTGGCTGAGTAACATACCAACTGCCCTTCATCCCTGACTACACTTGAGCCTTCAGTTCTAATGCTCAGCAGAAAAGTGCTCCAGTATTGTGCTCTTAATTTGCTGCTGTA... | benign | 109,191 |
Chromosome 6, position 52069520, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATAGTTCCTGTCCTCGAGAAGATCAGCATGGTAAGGCAGGTATGCAAAACTATCATTTAATACCTTGGGTCGGAGAAATTAGAGAGTATATGAAAGAATAGAGAACTTTGGGAGTAGGATGGGAGTATTGAGGTGTAGAAGAAAATGTTTAGAGATGACACTAATCTGAGTCTTAAAGGATGAATTAGAAGTGGCCTAGCGAAGAGGAGAAGGAGAGGGCATTTAAAGCAAAAGATAGCCTGAGTGTGGACAGAAGAAATTGCACAGTGCATGTTAAGTGTGGCTGGAGTATGAGAGACAGAGATAAAGCTGGAGAAACA... | ATAGTTCCTGTCCTCGAGAAGATCAGCATGGTAAGGCAGGTATGCAAAACTATCATTTAATACCTTGGGTCGGAGAAATTAGAGAGTATATGAAAGAATAGAGAACTTTGGGAGTAGGATGGGAGTATTGAGGTGTAGAAGAAAATGTTTAGAGATGACACTAATCTGAGTCTTAAAGGATGAATTAGAAGTGGCCTAGCGAAGAGGAGAAGGAGAGGGCATTTAAAGCAAAAGATAGCCTGAGTGTGGACAGAAGAAATTGCACAGTGCATGTTAAGTGTGGCTGGAGTATGAGAGACAGAGATAAAGCTGGAGAAACA... | pathogenic | 109,195 |
The mutation in gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) at chromosome 6, position 52072138—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | ATGAAACCATGTTCCTTATAAGATACTTGTGACAGTTTTCAACCTACAGTACTTTGAAATTACTTAAGATTTAATTCCCAAAATTCTGCAACACCACCATATTGAAACACACATTGCCTACAGATTAGTGAAGAGGACACAACTTCATTCACCCAGGTAAAAAAGTCAAGGAGTTATATGTGGTCTCATTATACTATTCTGTTTTTATATGTTTAACATTTTCCGTCATAAAAAGATAAAGAAAGTAAGCAAGATGAGAGAGATAGGTAATATAAAATGAAGACAAATTTGCCTATTTCTATACCCAGTTACTTACTTTC... | ATGAAACCATGTTCCTTATAAGATACTTGTGACAGTTTTCAACCTACAGTACTTTGAAATTACTTAAGATTTAATTCCCAAAATTCTGCAACACCACCATATTGAAACACACATTGCCTACAGATTAGTGAAGAGGACACAACTTCATTCACCCAGGTAAAAAAGTCAAGGAGTTATATGTGGTCTCATTATACTATTCTGTTTTTATATGTTTAACATTTTCCGTCATAAAAAGATAAAGAAAGTAAGCAAGATGAGAGAGATAGGTAATATAAAATGAAGACAAATTTGCCTATTTCTATACCCAGTTACTTACTTTC... | pathogenic | 109,211 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome 6, position 52072197—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TTACTTAAGATTTAATTCCCAAAATTCTGCAACACCACCATATTGAAACACACATTGCCTACAGATTAGTGAAGAGGACACAACTTCATTCACCCAGGTAAAAAAGTCAAGGAGTTATATGTGGTCTCATTATACTATTCTGTTTTTATATGTTTAACATTTTCCGTCATAAAAAGATAAAGAAAGTAAGCAAGATGAGAGAGATAGGTAATATAAAATGAAGACAAATTTGCCTATTTCTATACCCAGTTACTTACTTTCCTTTGTTAAATACTGAGAAGCTAACATTCTGGGAGCCTGTAACACAAAGAAACACACAT... | TTACTTAAGATTTAATTCCCAAAATTCTGCAACACCACCATATTGAAACACACATTGCCTACAGATTAGTGAAGAGGACACAACTTCATTCACCCAGGTAAAAAAGTCAAGGAGTTATATGTGGTCTCATTATACTATTCTGTTTTTATATGTTTAACATTTTCCGTCATAAAAAGATAAAGAAAGTAAGCAAGATGAGAGAGATAGGTAATATAAAATGAAGACAAATTTGCCTATTTCTATACCCAGTTACTTACTTTCCTTTGTTAAATACTGAGAAGCTAACATTCTGGGAGCCTGTAACACAAAGAAACACACAT... | benign | 109,216 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 52073547, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): what disease(s) if pathogenic? | benign | ATCATTCTTGTAATGGCCTCAAAGGAGGGGCAACACACCCTGTCCAGAGTGAAGTAAAAATCCAGCAAAACATTGGGTATTTAAACTGGAGAGTGTAGAAACTTATTTCTAAATTTTTTATTATTTTTACCTTTGGCTAGTCACTGAAGTATAGTGGTTAAGATCATGAACTCTAGGGGATGATTAGTTAGACAGGGTTCAAATCCCAGGTCTGCCACTTGCTCTCTGTGAGACCTTGTGCAAGTTACTTAACTTTTCTGTGTCTCAAATTCCTCATCTATAATGTGAGACTAATAACCATACATACTCCCAAGATTATT... | ATCATTCTTGTAATGGCCTCAAAGGAGGGGCAACACACCCTGTCCAGAGTGAAGTAAAAATCCAGCAAAACATTGGGTATTTAAACTGGAGAGTGTAGAAACTTATTTCTAAATTTTTTATTATTTTTACCTTTGGCTAGTCACTGAAGTATAGTGGTTAAGATCATGAACTCTAGGGGATGATTAGTTAGACAGGGTTCAAATCCCAGGTCTGCCACTTGCTCTCTGTGAGACCTTGTGCAAGTTACTTAACTTTTCTGTGTCTCAAATTCCTCATCTATAATGTGAGACTAATAACCATACATACTCCCAAGATTATT... | benign | 109,221 |
Gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) variant at chromosome position 52079898 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | TGCCAAACATTCAGTCCCCACCCCACCCTCCCAGCCAACCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCT... | TGCCAAACATTCAGTCCCCACCCCACCCTCCCAGCCAACCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCT... | pathogenic | 109,227 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 52079906, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | ATTCAGTCCCCACCCCACCCTCCCAGCCAACCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCTTGGGGTTA... | ATTCAGTCCCCACCCCACCCTCCCAGCCAACCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCTTGGGGTTA... | pathogenic | 109,230 |
Classify the chromosome 6 variant at position 52079936 affecting gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_polycystic_liver_disease', 'Autosomal_recessive_polycystic_kidney_disease', 'PKHD1-related_disorder', 'Polycystic_kidney_disease_4'] | CCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCTTGGGGTTAAACCTCAAAAAGGGCTTCACTTGTGATTCT... | CCACTGCCCCTAGGCCTTCATATCAACATTATTTCAACTGGACTATATCATAGGAGCTTAGTGAAGTACAGTAGTGGTTATTGACCTATTTCACAGATGTTTAGAACCTGAGGCAGCTGGAACAACTGAGTCCAAACCAAATAAGGAAGCATACCTCTCTATTTCAACCTGAAATCTAAGAGCCACCACTCAGTCTATAATCCTTCTACCAGACTTCCATGGGAAACACAGCAACTCCTTTATTACTCCCTCCCAGCTCGTGAGATCGTGGTGGGGCAGGCTTGGGGTTAAACCTCAAAAAGGGCTTCACTTGTGATTCT... | pathogenic | 109,232 |
Chromosome 6, position 52083181, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease', 'Polycystic_kidney_disease_4'] | TTTTCTTTAAAAAGATGACATAAAATCAATGGTGCATCCAAAAATCATTAGTATGTTGGGATAAAGGAGATAGGACATGTAAATCTCCAGAGCTTTGACTTGTTTCATGGCAAGTCTTTGCAGAATGTCTATGCCCAAATGTGCCATAAAATCTAAGGGAAATATATAACCCAGTTTTAAAACCAATAGTAGTGGTATAAAAATGTTAAATTCAACAGACATTTATTGAACATCCTCTACTCGTAAGATATTGCGCAATGCATCATGAGGACTACAATGGTGAAATTAAACACATCCCCTGCCCTCAAAGCACTTAATTC... | TTTTCTTTAAAAAGATGACATAAAATCAATGGTGCATCCAAAAATCATTAGTATGTTGGGATAAAGGAGATAGGACATGTAAATCTCCAGAGCTTTGACTTGTTTCATGGCAAGTCTTTGCAGAATGTCTATGCCCAAATGTGCCATAAAATCTAAGGGAAATATATAACCCAGTTTTAAAACCAATAGTAGTGGTATAAAAATGTTAAATTCAACAGACATTTATTGAACATCCTCTACTCGTAAGATATTGCGCAATGCATCATGAGGACTACAATGGTGAAATTAAACACATCCCCTGCCCTCAAAGCACTTAATTC... | pathogenic | 109,242 |
Mutation found at chromosome 6 position 52084926, gene PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_polycystic_kidney_disease'] | AGATGCATTGCTGAGCACTATGCTACACACTTCCATATCATCTCATGTAGAAATCCCAGAGTCCCATCCCACAGCCTGGAATGGGAAAGTGGACACAGAGTTGTCATGGTATGCTGTGCTTTGCTTCTGTGACATTAGCAAGCCAGTATCTAGAAAGACAGAAGTTGGTCAGTCTGTTCGTCTCCCTTCAGGCCCACTTTTACACCTGTCCTTAGAAAAGGAAGAAAACCAAAGACTCATAGTCTTTAGGATTGTGGGTCAATACATAAGAAATGTGCACTTGGTAAAACCCCAACCTACCATCAAAAATGACTGTGATC... | AGATGCATTGCTGAGCACTATGCTACACACTTCCATATCATCTCATGTAGAAATCCCAGAGTCCCATCCCACAGCCTGGAATGGGAAAGTGGACACAGAGTTGTCATGGTATGCTGTGCTTTGCTTCTGTGACATTAGCAAGCCAGTATCTAGAAAGACAGAAGTTGGTCAGTCTGTTCGTCTCCCTTCAGGCCCACTTTTACACCTGTCCTTAGAAAAGGAAGAAAACCAAAGACTCATAGTCTTTAGGATTGTGGGTCAATACATAAGAAATGTGCACTTGGTAAAACCCCAACCTACCATCAAAAATGACTGTGATC... | pathogenic | 109,249 |
Is chromosome 6, position 52420262, gene EFHC1 (EF-hand domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCCCCATGCCCAGCTAATTTTGTATTTTTAGTAGAGGTGGGGTTTCACTATGTTGTCCAGGCTGGTCTCAAACTCTGACCTCAGGCGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCAAACTTGCCATCTTGACATATTCCTCCAGTGACTGGCATCCATCCTCAGTTGGTGTCTAAGGTATAATACAACGGACAGGTACTTTAAAAGTTTTCAGTAACTTCCACAATGCTAACCAATGTTTGAGGAATATGATTACA... | GCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCCCCATGCCCAGCTAATTTTGTATTTTTAGTAGAGGTGGGGTTTCACTATGTTGTCCAGGCTGGTCTCAAACTCTGACCTCAGGCGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCAAACTTGCCATCTTGACATATTCCTCCAGTGACTGGCATCCATCCTCAGTTGGTGTCTAAGGTATAATACAACGGACAGGTACTTTAAAAGTTTTCAGTAACTTCCACAATGCTAACCAATGTTTGAGGAATATGATTACA... | benign | 109,260 |
Is the genetic mutation found on chromosome 6 at position 53544653, within the gene GCLC, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGAGTTGCTGAGCTCCAACTGTGCTGCAAATTTCCTGTTGATGTAGTTCTACCTGGGACAATGACTACCAAAGACTTGAACTGCCTGTCTTTGTAGAGAGACCTAGTTAAATGTCAAAAGCAGCACAGGGCCCGGCACATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGAAAAGTCAGGAGTTTGAGATCACCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTG... | AGGAGTTGCTGAGCTCCAACTGTGCTGCAAATTTCCTGTTGATGTAGTTCTACCTGGGACAATGACTACCAAAGACTTGAACTGCCTGTCTTTGTAGAGAGACCTAGTTAAATGTCAAAAGCAGCACAGGGCCCGGCACATTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGTGAAAAGTCAGGAGTTTGAGATCACCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTG... | benign | 109,341 |
Variant on chromosome 6, at position 56476256, affecting DST (dystonin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency', 'Hereditary_sensory_and_autonomic_neuropathy_type_6'] | GTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCATTTCTACTAAAATTACAAAAATTAACCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTGCTCCGTCTCAAAAATAAATAAATAAATAAATAAAATGTTAATGCTTGT... | GTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGGTGAAACCCCATTTCTACTAAAATTACAAAAATTAACCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGTGAGACTCTGCTCCGTCTCAAAAATAAATAAATAAATAAATAAAATGTTAATGCTTGT... | pathogenic | 109,363 |
For chromosome 6, position 56482187, gene DST (dystonin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACCTTTTATTTACAAGTTTACTATAATGGAGTCAACGTTCAATTGACAGCACACTCTGATAACACCTACTTTTTAAATATCATAACTTAAATTATCATTTTCCCAATACAGGATCCTCCTAAATGAAAAAAATTTAAAACTCCAACATTATAAGGAAGAGAAAAAAATAGGTTAATCTAACATCTGTGTTTCCCCTGGAGAACAGCTGATACAAATAATGTACTTTCAATCACTTCTACACCTAGAGGAGCCAAGGTTATACCTAGAATTTGGTGGACTGGACTGTCAACATTCCACTGAATTCTATGCCCTTCCAACCT... | ACCTTTTATTTACAAGTTTACTATAATGGAGTCAACGTTCAATTGACAGCACACTCTGATAACACCTACTTTTTAAATATCATAACTTAAATTATCATTTTCCCAATACAGGATCCTCCTAAATGAAAAAAATTTAAAACTCCAACATTATAAGGAAGAGAAAAAAATAGGTTAATCTAACATCTGTGTTTCCCCTGGAGAACAGCTGATACAAATAATGTACTTTCAATCACTTCTACACCTAGAGGAGCCAAGGTTATACCTAGAATTTGGTGGACTGGACTGTCAACATTCCACTGAATTCTATGCCCTTCCAACCT... | benign | 109,366 |
The mutation in gene DST (dystonin) at chromosome 6, position 56557524—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTCTTTTCCTGCTGTATCTCCTGCTTCATTTTTTGGGCTGTTTCCAACTGTTGGTTCATAGCATCAGGGTGCGTGCTCACAGCCAGACTGCTGCTGAGTTTATTATCCAAGTCACTCAGTTTATCAGAAAGGCTTCTCAGCAGGCTTTGATACTGTGTGCTTTTAACAATGGCTTGGTCAATCCAGTCACATCTGTCACTCAATTGCCCTGTTAGGCTATCCCATTTTTGGGTCACAGCTGCCAGTTGCTCTTTCACAATCCCACGTAAAGAAGGGTCTTCTCCAGGCCTGCTCAGAATGCCCTGACCAGCTGCTGTCAG... | TTCTTTTCCTGCTGTATCTCCTGCTTCATTTTTTGGGCTGTTTCCAACTGTTGGTTCATAGCATCAGGGTGCGTGCTCACAGCCAGACTGCTGCTGAGTTTATTATCCAAGTCACTCAGTTTATCAGAAAGGCTTCTCAGCAGGCTTTGATACTGTGTGCTTTTAACAATGGCTTGGTCAATCCAGTCACATCTGTCACTCAATTGCCCTGTTAGGCTATCCCATTTTTGGGTCACAGCTGCCAGTTGCTCTTTCACAATCCCACGTAAAGAAGGGTCTTCTCCAGGCCTGCTCAGAATGCCCTGACCAGCTGCTGTCAG... | benign | 109,414 |
Evaluate this variant at chromosome 6, position 56615254, gene DST (dystonin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TATTAAAATTACTTGAAGCTTTTTGGTATAAAGCACCAAATGCAAGTGCTTTCCCACATCTCCCACATCCCACATATATAGTATGTAAGACTATGACTGAATACTTCACTTCAACTGAACAACTTTTCAAGTATATACTCTGGTCTGTAAACTTCTCCAAGAAAGAACCTCAAATAAGGAACACTTGCCTCATATCACAGCCAAGTAAGACAAGGCACTGGTGTTCTCCCCTATTTAGTCATGTCAACAATGTCTATTTTAATAGATGACAAGTGAGTACTGATGCAGAGCTAGAAGTGGGAGCTAAACATTAAGATTGG... | TATTAAAATTACTTGAAGCTTTTTGGTATAAAGCACCAAATGCAAGTGCTTTCCCACATCTCCCACATCCCACATATATAGTATGTAAGACTATGACTGAATACTTCACTTCAACTGAACAACTTTTCAAGTATATACTCTGGTCTGTAAACTTCTCCAAGAAAGAACCTCAAATAAGGAACACTTGCCTCATATCACAGCCAAGTAAGACAAGGCACTGGTGTTCTCCCCTATTTAGTCATGTCAACAATGTCTATTTTAATAGATGACAAGTGAGTACTGATGCAGAGCTAGAAGTGGGAGCTAAACATTAAGATTGG... | benign | 109,446 |
Evaluate if the mutation on chromosome 6 at position 56615254 in DST (dystonin) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TATTAAAATTACTTGAAGCTTTTTGGTATAAAGCACCAAATGCAAGTGCTTTCCCACATCTCCCACATCCCACATATATAGTATGTAAGACTATGACTGAATACTTCACTTCAACTGAACAACTTTTCAAGTATATACTCTGGTCTGTAAACTTCTCCAAGAAAGAACCTCAAATAAGGAACACTTGCCTCATATCACAGCCAAGTAAGACAAGGCACTGGTGTTCTCCCCTATTTAGTCATGTCAACAATGTCTATTTTAATAGATGACAAGTGAGTACTGATGCAGAGCTAGAAGTGGGAGCTAAACATTAAGATTGG... | TATTAAAATTACTTGAAGCTTTTTGGTATAAAGCACCAAATGCAAGTGCTTTCCCACATCTCCCACATCCCACATATATAGTATGTAAGACTATGACTGAATACTTCACTTCAACTGAACAACTTTTCAAGTATATACTCTGGTCTGTAAACTTCTCCAAGAAAGAACCTCAAATAAGGAACACTTGCCTCATATCACAGCCAAGTAAGACAAGGCACTGGTGTTCTCCCCTATTTAGTCATGTCAACAATGTCTATTTTAATAGATGACAAGTGAGTACTGATGCAGAGCTAGAAGTGGGAGCTAAACATTAAGATTGG... | benign | 109,447 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 56618856, gene DST (dystonin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency', 'Hereditary_sensory_and_autonomic_neuropathy_type_6'] | TAAGAATATCCCACAGCTGCCTTCTCTGCCTCAAGAAGCCTAATTCTGAATTCGGGGTCAACAACTCCTTTAAGAACTGCATCTTCAACAGAATATGTCTGACCTGAAATGGGATCAATTATAAAACCTGTTGCAGCCTGAGCTTCTAAAAATGCCAAAGCCACCATTTTGTCTATTATGATTCTCTCGGCCGCTGAGGCAAATGAAATCTTTTCTTTTGTAGATTCTAGGTAAAGCCCTGCAATTGAGGTGGCTTTCGTCAGAAACTTGTTAAGAGTTTTCTGAACTTCTTCAACAGTCTTAAGACCGAGTCGCAGCTG... | TAAGAATATCCCACAGCTGCCTTCTCTGCCTCAAGAAGCCTAATTCTGAATTCGGGGTCAACAACTCCTTTAAGAACTGCATCTTCAACAGAATATGTCTGACCTGAAATGGGATCAATTATAAAACCTGTTGCAGCCTGAGCTTCTAAAAATGCCAAAGCCACCATTTTGTCTATTATGATTCTCTCGGCCGCTGAGGCAAATGAAATCTTTTCTTTTGTAGATTCTAGGTAAAGCCCTGCAATTGAGGTGGCTTTCGTCAGAAACTTGTTAAGAGTTTTCTGAACTTCTTCAACAGTCTTAAGACCGAGTCGCAGCTG... | pathogenic | 109,466 |
Gene mutation in DST (dystonin) at chromosome 6, position 56620447—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['DST-related_disorder', 'Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency', 'Hereditary_sensory_and_autonomic_neuropathy_type_6'] | TGAAGGTACAGTCTTTGGCTGTGCTCTTTTTTTGAATTTCACACTGGAGCAAAACTAATTGATGTTCATGCTCTTTGATCTGTTGGTCCATTTTTTGCTTCAGGTTTTCAACCTCACGCTTCTGGGCTATCAGCTCATCCTCAAGTTTCTGACATTTTTGGTAATGATTTGCTTCCATGTGCTGCCCTTGCTGCATTTGTTCACGATACTGTTGAAGCTGTCTTTCAAGTTCTTTAATGTTTGTTTCACAAAGCTTAGCATTTTCTTGGGCTCTAGAGTTTTCTTGTTGAAGAGACACAAAGTCAAGCCTAATGCCTGAA... | TGAAGGTACAGTCTTTGGCTGTGCTCTTTTTTTGAATTTCACACTGGAGCAAAACTAATTGATGTTCATGCTCTTTGATCTGTTGGTCCATTTTTTGCTTCAGGTTTTCAACCTCACGCTTCTGGGCTATCAGCTCATCCTCAAGTTTCTGACATTTTTGGTAATGATTTGCTTCCATGTGCTGCCCTTGCTGCATTTGTTCACGATACTGTTGAAGCTGTCTTTCAAGTTCTTTAATGTTTGTTTCACAAAGCTTAGCATTTTCTTGGGCTCTAGAGTTTTCTTGTTGAAGAGACACAAAGTCAAGCCTAATGCCTGAA... | pathogenic | 109,478 |
Does the chromosome 6 mutation at position 57194842 within gene RAB23 (RAB23, member RAS oncogene family) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Carpenter_syndrome', 'RAB23-related_Carpenter_syndrome', 'RAB23-related_disorder'] | GAAAGGCCTTGAGGAATGAATTGTTCTTCGACAGAAGATGGGAAAGAGGTCATTCTCAATAGAAGAAAAAAAATGACCAAAAGTGAAGAAGAAAGCAAGCATGGGGCATACTCAGGAAAGATCAAGACCTCTGAGAGAACCAGTAAATGGGTTACATAGATGTAATGGTGTGGCAGGAGGCTACACAGAAGGAAGGGCAAAACCACCTTTAAATGTTGGATTGAAGAGAATCTGCATTTACTTTGTTCCACAATGAGTCTTATTAAAGCTTTAATCAGTAGATATGAAGAAGACAAAAGGGGAGCCAAGGAGATCACACC... | GAAAGGCCTTGAGGAATGAATTGTTCTTCGACAGAAGATGGGAAAGAGGTCATTCTCAATAGAAGAAAAAAAATGACCAAAAGTGAAGAAGAAAGCAAGCATGGGGCATACTCAGGAAAGATCAAGACCTCTGAGAGAACCAGTAAATGGGTTACATAGATGTAATGGTGTGGCAGGAGGCTACACAGAAGGAAGGGCAAAACCACCTTTAAATGTTGGATTGAAGAGAATCTGCATTTACTTTGTTCCACAATGAGTCTTATTAAAGCTTTAATCAGTAGATATGAAGAAGACAAAAGGGGAGCCAAGGAGATCACACC... | pathogenic | 109,527 |
A genetic variant at chromosome 6, position 63720630, affecting gene PHF3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | GCCCTGCATTCAGTGTTTTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTT... | GCCCTGCATTCAGTGTTTTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTT... | pathogenic | 109,537 |
A genetic variant at chromosome 6, position 63720643, affecting gene PHF3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TGTTTTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTT... | TGTTTTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTT... | pathogenic | 109,538 |
Clinical significance of chromosome 6, position 63720647, gene PHF3: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | TTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCC... | TTGTAGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCC... | pathogenic | 109,539 |
Chromosome 6, position 63720651, gene PHF3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | AGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTAT... | AGTATGTCATTTTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTAT... | pathogenic | 109,540 |
Is the chromosome 6, position 63720662 variant in PHF3 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_25'] | TTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTAT... | TTATTTGAAATATATGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTAT... | pathogenic | 109,541 |
The mutation in gene PHF3 at chromosome 6, position 63720676—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAAT... | TGAAGAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAAT... | pathogenic | 109,542 |
Clinical significance of chromosome 6, position 63720680, gene PHF3: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | GAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAA... | GAAAATCTGGCTATATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAA... | pathogenic | 109,543 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 63720694, gene PHF3: what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAAT... | ATGTGCATTTGTTTTTGGGAAAGGGAGGACTCTGGATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAAT... | pathogenic | 109,545 |
Determine if the mutation at chromosome 6, position 63720728 in gene PHF3 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['EYS-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTG... | GATTCCTTGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTG... | pathogenic | 109,546 |
Regarding the variant at chromosome 6 and position 63720735, affecting gene PHF3: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['EYS-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGT... | TGAAAAGATCGCAGGGGTTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGT... | pathogenic | 109,548 |
Variant in PHF3, chromosome 6, position 63720752—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCC... | TTCTTGGACCATAGTTTGGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCC... | pathogenic | 109,550 |
Determine if the mutation at chromosome 6, position 63720769 in gene PHF3 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCT... | GGGAAGTGCTATTTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCT... | pathogenic | 109,551 |
Does the variant impacting PHF3 on chromosome 6, position 63720781, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_25'] | TTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGT... | TTTAAAGAAAAGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGT... | pathogenic | 109,552 |
Regarding the variant found on chromosome 6 at position 63720791 in gene PHF3: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTC... | AGGCACACTTTATTATGAGAGAACACATGGCCGAATATGATGGGAGTGTGGTTCAGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTC... | pathogenic | 109,553 |
Variant on chromosome 6, at position 63720845, affecting PHF3: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | AGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGT... | AGGCAGTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGT... | pathogenic | 109,554 |
Clinically, how would you classify the variant at chromosome 6, position 63720850, gene PHF3: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinitis_pigmentosa_25'] | GTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTT... | GTTTCTTCTTTTGTAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTT... | pathogenic | 109,555 |
Regarding the variant at chromosome 6 and position 63720863, affecting gene PHF3: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGT... | TAAGCTTTCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGT... | pathogenic | 109,556 |
The mutation in gene PHF3 at chromosome 6, position 63720870—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | TCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGT... | TCATAAAACAGCCTTCTTTTTATACATAAAGTATGTTTTCTGAAAGGTTAGATTTGATTACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGT... | pathogenic | 109,557 |
Located at chromosome 6 position 63720928, the variant affecting gene PHF3—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | TACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCC... | TACCAGCTGCCAAAAGGAATTTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCC... | pathogenic | 109,559 |
Classify the chromosome 6 variant at position 63720948 affecting gene PHF3 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGG... | TTCTTCAGAGCATTTATCCTTATGATCTGAGTATCTCCAAAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGG... | pathogenic | 109,560 |
Does the genetic variant at chromosome 6, position 63720987, impacting gene PHF3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGAT... | AAGTTAAATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGAT... | pathogenic | 109,561 |
For chromosome 6, position 63720994, gene PHF3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | ATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTAC... | ATGCAATAGTATGGAGCAATACCAGTTTAGGTCACAGTTTTTCAGCAAAATTTGATGGAGTTGTTTTAAGTGGTTTCCGTTAAAAAAACAAACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTAC... | pathogenic | 109,562 |
Clinical significance of chromosome 6, position 63721085, gene PHF3: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | ACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGAT... | ACCTTTGAATCAATGTGTAAACATTCTGCAATTCTACCTTATATTCTACCCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGAT... | pathogenic | 109,565 |
Clinical classification of chromosome 6, position 63721134, gene PHF3: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | CCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTA... | CCTCACACTTCCTAGTATTAATATGAACTGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTA... | pathogenic | 109,566 |
Determine if the mutation at chromosome 6, position 63721162 in gene PHF3 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCT... | TGTATGTTTGGAAACATTTGTGCCCTGTCAAATGGTGTTGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCT... | pathogenic | 109,567 |
Does the genetic variant at chromosome 6, position 63721200, impacting gene PHF3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | TGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTT... | TGACATTCTTAACTCTGGTCGTAGGTCCTTTTAGGAATGTCTGTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTT... | pathogenic | 109,568 |
Chromosome 6, position 63721242, gene PHF3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | GTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATG... | GTAGCCTTTTGATTGGAATGGAGTGGCTAAAATAAGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATG... | pathogenic | 109,570 |
Is the genetic change at chromosome 6, position 63721276, within gene PHF3 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | AGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCT... | AGACAAAAATCTCTAATAGTTTTTGAATGATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCT... | pathogenic | 109,572 |
For chromosome 6, position 63721304, gene PHF3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_25'] | GATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGA... | GATAAATTACTACCTCGTTACTTTGTATAGACTGGAATCTGCACAGAAATGTGTATTCATCAGCCCTTATTTTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGA... | pathogenic | 109,575 |
Assess the variant on chromosome 6, position 63721375, impacting PHF3: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACA... | TTTTGTAAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACA... | pathogenic | 109,577 |
Gene mutation in PHF3 at chromosome 6, position 63721381—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | AAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTA... | AAATCTTTTCTCTAATTACTTGATGATTAATTTCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTA... | pathogenic | 109,578 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 63721413, gene PHF3: what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | TCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTG... | TCATATTTTTCCTTTTGAACATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTG... | pathogenic | 109,579 |
The mutation in gene PHF3 at chromosome 6, position 63721432—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | CATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGC... | CATTACATGCTGCTTATTACTAAGATTTTTTTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGC... | pathogenic | 109,581 |
Benign or pathogenic: chromosome 6, position 63721462, gene PHF3 variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAG... | TTCTCCAGATGACCTATTCTACCTGTTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAG... | pathogenic | 109,583 |
A genetic variant at chromosome 6, position 63721487, affecting gene PHF3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa_25'] | TTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAAT... | TTAGTTCACCAAGTCAGTCATATGTTGCCGGTTGCCAAGTGGCAAAATTATCACAGATATCAAACTCAGAAAATGTCAGGTAACAACAGCAGTAACTGCTTTCCAACCTGCAGTGGTGGACTGGGAGTGGGAAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAAT... | pathogenic | 109,584 |
Is the genetic change at chromosome 6, position 63721618, within gene PHF3 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | AAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTA... | AAGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTA... | pathogenic | 109,586 |
Is the genetic change at chromosome 6, position 63721619, within gene PHF3 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | AGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAG... | AGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAG... | pathogenic | 109,587 |
Benign or pathogenic: chromosome 6, position 63721619, gene PHF3 variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | AGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAG... | AGTGAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAG... | pathogenic | 109,588 |
Variant at chromosome 6, position 63721622, gene PHF3: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATA... | GAAAGTTCTGTTCACAATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATA... | pathogenic | 109,589 |
Evaluate the clinical significance of the mutation at chromosome 6, position 63721638 in gene PHF3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinitis_pigmentosa_25'] | ATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCT... | ATTGTATCAGTAACTGTTTTGGGAAAAATAATATTTTTTCAAGTTATGCTATCAACAGTACTAAATTGTTAGGATAGTAATTTTCCATGGCATTGTTTAGAACCTATTTTATGCCCAATTTTGAGATCTGTATAGACTTGAAAGCAGTTAAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCT... | pathogenic | 109,590 |
Does the genetic variant at chromosome 6, position 63721787, impacting gene PHF3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCTTCATGTTTGTGATATGCATATGCTATGTTTTAAGTTGCACATATTGTAATATCTATTGATGTCTTACTATAAAAGATAAGGATTTAGCTCTTACCAGCCTGTTCTCCTCTCCTCTCACCTTCTCTTTCTACATTCATGCAATAATTTTT... | AAACACAAATTAAGGTTAATTTTTTAATTTGATCAGTTAATATGAGTACATGGTTTTAAAAAGTCAAATAGTTCTACAAGGTTCATAAGCAAAAAGCAACAGGCTTCTGCACTACTCTTCTCTCCAGAGGCAACCATTTTTAATTCTTTTAGATATTTAGGATATTTGCCTTCATGTTTGTGATATGCATATGCTATGTTTTAAGTTGCACATATTGTAATATCTATTGATGTCTTACTATAAAAGATAAGGATTTAGCTCTTACCAGCCTGTTCTCCTCTCCTCTCACCTTCTCTTTCTACATTCATGCAATAATTTTT... | pathogenic | 109,592 |
Gene mutation in EYS (eyes shut homolog) at chromosome 6, position 63726583—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATTAATTTGTGCTTAACAAAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATT... | ATTAATTTGTGCTTAACAAAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATT... | pathogenic | 109,593 |
Gene mutation in EYS (eyes shut homolog) at chromosome 6, position 63726595—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTAACAAAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTT... | TTAACAAAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTT... | pathogenic | 109,594 |
Is the genetic mutation found on chromosome 6 at position 63726601, within the gene EYS (eyes shut homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTTTTTACT... | AAATGTTGATAATTTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTTTTTACT... | pathogenic | 109,595 |
Variant in gene EYS (eyes shut homolog), located at chromosome 6 position 63726614: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTTTTTACTAATAGGTCCTCTT... | TTTTATATATCAAAAATCTTTTAAAGGTGTTAAATTTTTAGCAGAAATAGATGAAAAGGGACCAGAGTCTTATTTCTTTAAAATATCTTTCAAAAATCAGAGATCTGAGATCATCTAGTATAATTTTCAAGTTATCATTTTGTTTTAAATTTTACACTACTTGAGAGTACTCAAATTATTAACCTCTAAAGAGATACAGAAACCATGTTAATTTAGAATTTGGTTTTCAATATGTGAAAACCACATTGGCTGCTTTTATTAAAATTTTTGGATTTTAACTTTGTGTATTGTTTGGTTAGTTTTTACTAATAGGTCCTCTT... | pathogenic | 109,597 |
Gene EYS (eyes shut homolog) variant at chromosome 6, position 63762561—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinitis_pigmentosa_25'] | TAACTTTGTGTTAGAATTCTATGTGGATGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGC... | TAACTTTGTGTTAGAATTCTATGTGGATGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGC... | pathogenic | 109,603 |
A genetic variant at chromosome 6, position 63762587, affecting gene EYS (eyes shut homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa_25'] | ATGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGCATCAAAACTGTGGCTTGCCCTATTGT... | ATGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGCATCAAAACTGTGGCTTGCCCTATTGT... | pathogenic | 109,604 |
Mutation at chromosome 6, position 63762588, within EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | TGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGCATCAAAACTGTGGCTTGCCCTATTGTT... | TGTCACCCATTTTCTGGCACCTTTAATGAAATCTTCTAGACTTTCTTTCTGTAAAATCTCATTACTCTGACTATTCCAATATCTATGTACATATGTATGTATGTATGTATATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTAATCTTCTATCTATACATCCATTCATCTATCTTCATCTGCCCTCTATATAATCTATTTATATACATCCACACACCCACACAAATTTTGGGTTAATCTATCTTTCAAACTTTCACTGTCTGAGCCTTTAAGCATCAAAACTGTGGCTTGCCCTATTGTT... | pathogenic | 109,605 |
Is the genetic change at chromosome 6, position 63778161, within gene EYS (eyes shut homolog) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | ATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAATGGAAGATCTGATTTTGGGTCCTGCTGTACTACTCACAGGGTGCTCATAC... | ATGTTTGAGATACTGCATTCCACCCACACGGCAATCTATGAAATCCCCAGGATATGTGTTATAAAGAAAGGTATTTTCAATTTGGAGAAAATACAATGTGCCAACTGAAGATAATTTCAACGTTATTTTTTAAAATTAAGATGAAATGAACAGGTTACAACCAGTAAATAAAGAGCGACTTAACACTCTTGTTACCTCATTAAAATTATTTGCTGTTTTTAAGTTCATTTCTTGCTATTTAGATTCTGGAGAGAATCTTGACCCTCGAAATGGAAGATCTGATTTTGGGTCCTGCTGTACTACTCACAGGGTGCTCATAC... | pathogenic | 109,611 |
Is the genetic change at chromosome 6, position 63788173, within gene EYS (eyes shut homolog) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | TGATTGAGCCCTGGAGATGAAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTTGATGACACAGCGAGACTCAAAAAAAAAAAAAAAAAAAGGTAAAGTAAAATAAAAATAAAGAGTTTATAAAAATGTAAAAGCCTAGATCAGATAATATTTTATTGCATTATTTAATTGTAATTCTAAGGACAAATGTGATATCCTTACTCCAACTATTAAATTCTTTCAGAAAATTCCATTTGCTTTGCTTCGTTATGATTAATTAATGTGGTGGCTTCCACATCATTCTCAGCAAATTAACCCAGGAACAGAAAATGA... | TGATTGAGCCCTGGAGATGAAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTTGATGACACAGCGAGACTCAAAAAAAAAAAAAAAAAAAGGTAAAGTAAAATAAAAATAAAGAGTTTATAAAAATGTAAAAGCCTAGATCAGATAATATTTTATTGCATTATTTAATTGTAATTCTAAGGACAAATGTGATATCCTTACTCCAACTATTAAATTCTTTCAGAAAATTCCATTTGCTTTGCTTCGTTATGATTAATTAATGTGGTGGCTTCCACATCATTCTCAGCAAATTAACCCAGGAACAGAAAATGA... | pathogenic | 109,617 |
Considering the variant on chromosome 6, location 63788244, involving gene EYS (eyes shut homolog), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinitis_pigmentosa_25'] | GCGAGACTCAAAAAAAAAAAAAAAAAAAGGTAAAGTAAAATAAAAATAAAGAGTTTATAAAAATGTAAAAGCCTAGATCAGATAATATTTTATTGCATTATTTAATTGTAATTCTAAGGACAAATGTGATATCCTTACTCCAACTATTAAATTCTTTCAGAAAATTCCATTTGCTTTGCTTCGTTATGATTAATTAATGTGGTGGCTTCCACATCATTCTCAGCAAATTAACCCAGGAACAGAAAATGAAACACCTCATGTTCTCACTCATAAGTGGGAGTTGAACAATGAAAATGCACGGACACAGGGAGGGGAACATC... | GCGAGACTCAAAAAAAAAAAAAAAAAAAGGTAAAGTAAAATAAAAATAAAGAGTTTATAAAAATGTAAAAGCCTAGATCAGATAATATTTTATTGCATTATTTAATTGTAATTCTAAGGACAAATGTGATATCCTTACTCCAACTATTAAATTCTTTCAGAAAATTCCATTTGCTTTGCTTCGTTATGATTAATTAATGTGGTGGCTTCCACATCATTCTCAGCAAATTAACCCAGGAACAGAAAATGAAACACCTCATGTTCTCACTCATAAGTGGGAGTTGAACAATGAAAATGCACGGACACAGGGAGGGGAACATC... | pathogenic | 109,620 |
Evaluate if the mutation on chromosome 6 at position 63789094 in EYS (eyes shut homolog) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | TCCTGAATTTTCTATAAGACTGTGGCATAAGTGGCAATTTCCAAGAAGACTTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCT... | TCCTGAATTTTCTATAAGACTGTGGCATAAGTGGCAATTTCCAAGAAGACTTGCCCAAGATTCCCATACTCACTAAAGACTGTGGCAGTTGACATACTTCCAGGAGTGTGCAATCTTAATGTTTCTGTAAGAGAAAGGGCCAGCTCTGTGTGTGCTGATCTCATTTGAACACGGAACTATTTGAACACAGGAAGACAGACTGTGGCAATAAGATTGCTCACCCAAGCACAATGTTGTCCTTAATCCTCTTGGCTTGCTCTGGCCTCTGTGGGCTACCCCTTGGTGGTATGGATGGGTTGACTGCAGTCTGTCTCTTGCCT... | pathogenic | 109,624 |
Determine if the mutation at chromosome 6, position 63806208 in gene EYS (eyes shut homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GTGTGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGCTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTC... | GTGTGCACCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGCTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTC... | pathogenic | 109,627 |
Clinical significance of chromosome 6, position 63806323, gene EYS (eyes shut homolog): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | CAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTCATGTCTACATCACCAGTCTCTAGAGCCTGCTCCCTTGACCACTATGATAGCTATTTCCTGTCAAGGCTGAGGAAAAAGCATGCACCAAACCTCTGAGACAGGAAAGCACTTGGTG... | CAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTCATGTCTACATCACCAGTCTCTAGAGCCTGCTCCCTTGACCACTATGATAGCTATTTCCTGTCAAGGCTGAGGAAAAAGCATGCACCAAACCTCTGAGACAGGAAAGCACTTGGTG... | pathogenic | 109,629 |
Variant in gene EYS (eyes shut homolog), located at chromosome 6 position 63806330: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | CTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTCATGTCTACATCACCAGTCTCTAGAGCCTGCTCCCTTGACCACTATGATAGCTATTTCCTGTCAAGGCTGAGGAAAAAGCATGCACCAAACCTCTGAGACAGGAAAGCACTTGGTGGTTAAGG... | CTGGGATTACAGGCGTGAGTCACCGCGCCTGGCCGAGTCCAACAATATTTTAAGAGCTTCCCATGTATTAAGTTCGTTATTCCTCACAACGCTGTAAGGAAATACACTGTTACTATACTCATTTGATAGGTTAGAAAATAGAGGCACAAAGACATTAAGTAACTTGACACATAATTTGCACATGGTGGAGACTGATTCATGTCTACATCACCAGTCTCTAGAGCCTGCTCCCTTGACCACTATGATAGCTATTTCCTGTCAAGGCTGAGGAAAAAGCATGCACCAAACCTCTGAGACAGGAAAGCACTTGGTGGTTAAGG... | pathogenic | 109,630 |
A mutation at chromosome position 63864185 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTGTCTTGGTGACCTGTTAAAATGCCCTCCATCCCAGTTACTGTCTATCACTACTTGTTTATTTCCTTCATAATTCTTCTCAGAAATTTTGTATTGTGTTTTGAGCCATTTTTATTTTCTTTTTATCTTTTCAATTAGAAGGTAAGCTCTGTAAGGTCAGAAGTCTTATCTTTCTTGACAAGTTTTACATTGCTAAACTAGATCTGGCAACTTTGTGGAATATAAATGAATAGGATAATTATTTTGAGAAATTCTTCCGGATGGGTGCATGTAGGAATCTTTTTTTAAAAAAAAAAATTTACACTGAGGCAAAGAATCTA... | TTGTCTTGGTGACCTGTTAAAATGCCCTCCATCCCAGTTACTGTCTATCACTACTTGTTTATTTCCTTCATAATTCTTCTCAGAAATTTTGTATTGTGTTTTGAGCCATTTTTATTTTCTTTTTATCTTTTCAATTAGAAGGTAAGCTCTGTAAGGTCAGAAGTCTTATCTTTCTTGACAAGTTTTACATTGCTAAACTAGATCTGGCAACTTTGTGGAATATAAATGAATAGGATAATTATTTTGAGAAATTCTTCCGGATGGGTGCATGTAGGAATCTTTTTTTAAAAAAAAAAATTTACACTGAGGCAAAGAATCTA... | pathogenic | 109,633 |
Variant on chromosome 6, at position 63984389, affecting EYS (eyes shut homolog): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATTGCAGTAAAGGTATGGGATAGGTTGGGGGTCTCATCTCAAGGCTTGACTGGGGAAAGGGCCCATTTTCAAGCTCATGTGGTTGTTGGTAAAATTCAATTCTTTGCAGTTGTAAGAATGAGGGATTCAATATTTGCTGGTTGTCAGCCAGGGGACACCCTCAACTCTGCTTCTTGTTGGCTGGAGGCTGCCTCAGTGTCTTTTCATGTGGGTCTTCCCCAAACTGCTGTTTGCTTCCTCAAAGGCAGCAAAAGAGATAATCTCTTTGTAATATACAGCTTACACTTCTATGTAGTCTAATCCTGGAAGTGATGTCTCAT... | ATTGCAGTAAAGGTATGGGATAGGTTGGGGGTCTCATCTCAAGGCTTGACTGGGGAAAGGGCCCATTTTCAAGCTCATGTGGTTGTTGGTAAAATTCAATTCTTTGCAGTTGTAAGAATGAGGGATTCAATATTTGCTGGTTGTCAGCCAGGGGACACCCTCAACTCTGCTTCTTGTTGGCTGGAGGCTGCCTCAGTGTCTTTTCATGTGGGTCTTCCCCAAACTGCTGTTTGCTTCCTCAAAGGCAGCAAAAGAGATAATCTCTTTGTAATATACAGCTTACACTTCTATGTAGTCTAATCCTGGAAGTGATGTCTCAT... | pathogenic | 109,638 |
A genetic variant on chromosome 6, position 63984421, affects the gene EYS (eyes shut homolog). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_25'] | CTCATCTCAAGGCTTGACTGGGGAAAGGGCCCATTTTCAAGCTCATGTGGTTGTTGGTAAAATTCAATTCTTTGCAGTTGTAAGAATGAGGGATTCAATATTTGCTGGTTGTCAGCCAGGGGACACCCTCAACTCTGCTTCTTGTTGGCTGGAGGCTGCCTCAGTGTCTTTTCATGTGGGTCTTCCCCAAACTGCTGTTTGCTTCCTCAAAGGCAGCAAAAGAGATAATCTCTTTGTAATATACAGCTTACACTTCTATGTAGTCTAATCCTGGAAGTGATGTCTCATCACCTTAGTTTATCAGATAGTCTGTTGGTTAA... | CTCATCTCAAGGCTTGACTGGGGAAAGGGCCCATTTTCAAGCTCATGTGGTTGTTGGTAAAATTCAATTCTTTGCAGTTGTAAGAATGAGGGATTCAATATTTGCTGGTTGTCAGCCAGGGGACACCCTCAACTCTGCTTCTTGTTGGCTGGAGGCTGCCTCAGTGTCTTTTCATGTGGGTCTTCCCCAAACTGCTGTTTGCTTCCTCAAAGGCAGCAAAAGAGATAATCTCTTTGTAATATACAGCTTACACTTCTATGTAGTCTAATCCTGGAAGTGATGTCTCATCACCTTAGTTTATCAGATAGTCTGTTGGTTAA... | pathogenic | 109,640 |
Variant at chromosome 6, position 63999095, gene EYS (eyes shut homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TACTAAATTATAATGAGTAGAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATC... | TACTAAATTATAATGAGTAGAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATC... | pathogenic | 109,647 |
Variant at chromosome position 63999108, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | TGAGTAGAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATCTCACCACATATAG... | TGAGTAGAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATCTCACCACATATAG... | pathogenic | 109,648 |
Evaluate this variant at chromosome 6, position 63999114, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['EYS-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATCTCACCACATATAGCCTCCA... | GAGGCAGTGCTAGAACCTATTTTGATATTTTGTGCCAAAGTCCGTGACTCTTAAAATTAAATAGCTTCAGCTCACAAAATTTTCAGTTCTTATATCTTTATTCCACAAACCTCCATCATCCTCCTACTGTAATAATAGAGGAAAAGGCAGTAGAAAACATGCAGTAGAAAAGCCACTTAGGTGCTCTTTCTCAGACAAGATCCTGCCAGAACTTGGAGAGAAAGGGCATGTGCCATAGAGGTTGGGCCCTGAAGGCTGTAATATACCGTAACTCTGGGACTGAAGTGTGTCTGAGAGAATCTCACCACATATAGCCTCCA... | pathogenic | 109,650 |
Determine whether the variant at chromosome 6, position 64066348, in gene EYS (eyes shut homolog) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATTTGTTAAATGAATATATGAAACTAAATATAGAACAAAACCAGGAGAAACAGAAAAATGAGATGCAAATATTAAGACATCGAGAGCATGCTTAGCAGATGAGCACTCAACAGTTTTAAATTAATGATATATAATATGTAATATATAGTCCTAGGGTCAGCCTACTCTCACTTTGAGCTCTTGTAGGCTATTGCCTATAACACAGAGCAGATTTGCATTTTTACATTCATAGGGATATCTCCTTTTTACTTTCTTAAGTTTTGATAAAATTAATCTAAACACTTGGAAAGTCCTTTTCAGTTTTACTGGAAGCATCAATA... | ATTTGTTAAATGAATATATGAAACTAAATATAGAACAAAACCAGGAGAAACAGAAAAATGAGATGCAAATATTAAGACATCGAGAGCATGCTTAGCAGATGAGCACTCAACAGTTTTAAATTAATGATATATAATATGTAATATATAGTCCTAGGGTCAGCCTACTCTCACTTTGAGCTCTTGTAGGCTATTGCCTATAACACAGAGCAGATTTGCATTTTTACATTCATAGGGATATCTCCTTTTTACTTTCTTAAGTTTTGATAAAATTAATCTAAACACTTGGAAAGTCCTTTTCAGTTTTACTGGAAGCATCAATA... | pathogenic | 109,653 |
The mutation impacting EYS (eyes shut homolog) on chromosome 6 at position 64081879: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | TCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGTCTT... | TCCTTGCCATAGTTTGCTGAGAAGGATGGTTTCCAGCTTCATCCATGTCCCAACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGTCTT... | pathogenic | 109,657 |
Is the chromosome 6, position 64081941 variant in EYS (eyes shut homolog) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_25'] | TGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGTCTTCCTCAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAATTCTCCACATCCTCTCC... | TGAACTCATCATTTTTTATGGCTGCATAGTGTTCCATGGTTTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAATAAATATACGTGTTCATGTGTCTTTATAGCAGCATGATTTATAATACTTTGGGTATTACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGTCTTCCTCAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAATTCTCCACATCCTCTCC... | pathogenic | 109,659 |
Considering the genetic mutation at chromosome 6, position 64230777, impacting EYS (eyes shut homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | TCACTTTCCTATATTCTGCCACCAAAACATCAAATACAATTAAACCTCCGTGAAACCTTGCTTAACTCCAAAAATCCTCCATTGTTTTTTTCTGGAAGAAAATACAGTTACTCTATGAAGTGTTAAAGATACTAGGTAAAGAGTTAAAGGAGAGAGAATTGGAGATTCAGTGGGACAGAGAGAAATGATGGCTTAGAGGGTCATTGCTAGTGTAATACGTGTGTATGACCAGGAGATACACTAACATTAAAAAATTAAAATAGGCCAGTCACAGTGACTCACATCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTG... | TCACTTTCCTATATTCTGCCACCAAAACATCAAATACAATTAAACCTCCGTGAAACCTTGCTTAACTCCAAAAATCCTCCATTGTTTTTTTCTGGAAGAAAATACAGTTACTCTATGAAGTGTTAAAGATACTAGGTAAAGAGTTAAAGGAGAGAGAATTGGAGATTCAGTGGGACAGAGAGAAATGATGGCTTAGAGGGTCATTGCTAGTGTAATACGTGTGTATGACCAGGAGATACACTAACATTAAAAAATTAAAATAGGCCAGTCACAGTGACTCACATCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTG... | pathogenic | 109,668 |
Is the genetic change at chromosome 6, position 64230819, within gene EYS (eyes shut homolog) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | AACCTCCGTGAAACCTTGCTTAACTCCAAAAATCCTCCATTGTTTTTTTCTGGAAGAAAATACAGTTACTCTATGAAGTGTTAAAGATACTAGGTAAAGAGTTAAAGGAGAGAGAATTGGAGATTCAGTGGGACAGAGAGAAATGATGGCTTAGAGGGTCATTGCTAGTGTAATACGTGTGTATGACCAGGAGATACACTAACATTAAAAAATTAAAATAGGCCAGTCACAGTGACTCACATCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTTTTAGGAGTTTGAGACCATCCTGGCTAAC... | AACCTCCGTGAAACCTTGCTTAACTCCAAAAATCCTCCATTGTTTTTTTCTGGAAGAAAATACAGTTACTCTATGAAGTGTTAAAGATACTAGGTAAAGAGTTAAAGGAGAGAGAATTGGAGATTCAGTGGGACAGAGAGAAATGATGGCTTAGAGGGTCATTGCTAGTGTAATACGTGTGTATGACCAGGAGATACACTAACATTAAAAAATTAAAATAGGCCAGTCACAGTGACTCACATCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCACCTAAGGTTTTAGGAGTTTGAGACCATCCTGGCTAAC... | pathogenic | 109,669 |
Assess the variant on chromosome 6, position 64307026, impacting EYS (eyes shut homolog): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_25'] | ACAATCTAAACCCAAAGTAGAGATGACATTGATGATAACAAAGTTGGTTGTTTGAAAAACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTAT... | ACAATCTAAACCCAAAGTAGAGATGACATTGATGATAACAAAGTTGGTTGTTTGAAAAACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTAT... | pathogenic | 109,676 |
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