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 |
|---|---|---|---|---|---|
Mutation found at chromosome 7 position 97855147, gene ASNS: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | ATTCTTAACTGAAGTTATTCCATCACTGAAGGCTTCTTTTGGTCGCCAGAGAATCTCTTTGGGTATCAGATTGGAATCCTCAAACGTCTCTCTCAGGAGATGTTTTTCTATCCCATTCTGACGTGACAAAAAAAGGAGCATCAGGTAAAAATTACAAATATAATCTGATGGCAATGGACAGTTTTACCTTGAGTTGATTTACCTACCTTTGGAATTCTCATTTCTGGTGGCAGAGACAAGTAATAGGAAGAAAATCGATGATCTAGAAATGGGACTCTCAGTTCAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAA... | ATTCTTAACTGAAGTTATTCCATCACTGAAGGCTTCTTTTGGTCGCCAGAGAATCTCTTTGGGTATCAGATTGGAATCCTCAAACGTCTCTCTCAGGAGATGTTTTTCTATCCCATTCTGACGTGACAAAAAAAGGAGCATCAGGTAAAAATTACAAATATAATCTGATGGCAATGGACAGTTTTACCTTGAGTTGATTTACCTACCTTTGGAATTCTCATTTCTGGTGGCAGAGACAAGTAATAGGAAGAAAATCGATGATCTAGAAATGGGACTCTCAGTTCAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAA... | pathogenic | 122,964 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 97855430, gene ASNS. What disease(s) is it linked to if pathogenic? | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | CAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAAAATGGGTATTTAGTGCCTGCCAGGTTAGGTTCTGATTCAGTTTCCCATCAATTCAACCAGATCTTAAGAAATGTTAAGGTCATACAGTCACATACAAGCCTCCTAATGACTGCCCTACACTAATGAATAGATACAAAAAATAAATCTTCATTTAAAATAATACATATATCATGTCATCTAGGGAGTAAAACTAACTGAGACTATTACTTTTACTTTCCCTTCTAGGAATAGTTAAATGCATATTTCAAAAAGCAGAAAAAGTTACAAAACATGAGTGACCCAA... | CAAGACTTAAAGGAGAAAAGAAGAAAATCTAAATTAAAATGGGTATTTAGTGCCTGCCAGGTTAGGTTCTGATTCAGTTTCCCATCAATTCAACCAGATCTTAAGAAATGTTAAGGTCATACAGTCACATACAAGCCTCCTAATGACTGCCCTACACTAATGAATAGATACAAAAAATAAATCTTCATTTAAAATAATACATATATCATGTCATCTAGGGAGTAAAACTAACTGAGACTATTACTTTTACTTTCCCTTCTAGGAATAGTTAAATGCATATTTCAAAAAGCAGAAAAAGTTACAAAACATGAGTGACCCAA... | pathogenic | 122,968 |
Classify the chromosome 7 variant at position 97858834 affecting gene ASNS as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CATAATGTTCACTTCCAATATGATCTGCCACCTTATTATATAAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAAC... | CATAATGTTCACTTCCAATATGATCTGCCACCTTATTATATAAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAAC... | benign | 122,975 |
Determine if the mutation at chromosome 7, position 97858834 in gene ASNS is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CATAATGTTCACTTCCAATATGATCTGCCACCTTATTATATAAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAAC... | CATAATGTTCACTTCCAATATGATCTGCCACCTTATTATATAAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAAC... | benign | 122,976 |
The chromosome 7, position 97858875 genetic variant in gene ASNS: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | AAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAACCCACCTCATCTCTCTCTAGTCCAACATGGTCCCACGCTAAG... | AAAGAAATACCCATTTACTTGTTAAAGAAAATAACTTCCCTTGAAAATCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAACCCACCTCATCTCTCTCTAGTCCAACATGGTCCCACGCTAAG... | pathogenic | 122,977 |
Assess the variant on chromosome 7, position 97858922, impacting ASNS: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | TCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAACCCACCTCATCTCTCTCTAGTCCAACATGGTCCCACGCTAAGCTTGGTCTTTTTTGGTCCTTCTTAAATGCCTAATTTTATATCCAGGA... | TCAAACATGATGGGAGTTCACAAAGCTTTATGAATTAACAATGGTGAAAACTAAACAAGGGAAAAAAAGAAAAATGACTTTACAGCCCACCACATACAAGCCCCATCCAGCACTGTTCCCTCGCCTGCTTCAACTCCACCACCAGGAAGTAAGTCTCCCCTCAGCTCCTCTGGTGCCAAGGCTTCAACCATTCTCCCAGTTGGCACCTCCCTCTCTACCTATTTTACCTAACCCACCTCATCTCTCTCTAGTCCAACATGGTCCCACGCTAAGCTTGGTCTTTTTTGGTCCTTCTTAAATGCCTAATTTTATATCCAGGA... | pathogenic | 122,978 |
Variant in gene ASNS, located at chromosome 7 position 97859218: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | AAATGCCTAATTTTATATCCAGGATGTTATTCTTATATAGAATGGCCCTTCCCCTCATTCTGCTTTCCTTGGCTATTTTGGATTCTCTCGGCATTGATTACCTTGCACTGAGACTGCTCTCTAGCTTTTTCTCATCCATGCTACGAAAGTCCTCCATAGTGGGAACTAGGTCTCCCGCTCACTGAATACAGACAAGCTGCCCTCTGCCCACAGTATTCTAAATACAGTACTTTCAAAAATAATAATAACAGCTAACACTCATTAAGTACTTACTACATGCTAAGTTCTACCCTACTTACTTTACATGAATTATATCATTT... | AAATGCCTAATTTTATATCCAGGATGTTATTCTTATATAGAATGGCCCTTCCCCTCATTCTGCTTTCCTTGGCTATTTTGGATTCTCTCGGCATTGATTACCTTGCACTGAGACTGCTCTCTAGCTTTTTCTCATCCATGCTACGAAAGTCCTCCATAGTGGGAACTAGGTCTCCCGCTCACTGAATACAGACAAGCTGCCCTCTGCCCACAGTATTCTAAATACAGTACTTTCAAAAATAATAATAACAGCTAACACTCATTAAGTACTTACTACATGCTAAGTTCTACCCTACTTACTTTACATGAATTATATCATTT... | pathogenic | 122,981 |
The mutation impacting ASNS on chromosome 7 at position 97859345: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | TTTCTCATCCATGCTACGAAAGTCCTCCATAGTGGGAACTAGGTCTCCCGCTCACTGAATACAGACAAGCTGCCCTCTGCCCACAGTATTCTAAATACAGTACTTTCAAAAATAATAATAACAGCTAACACTCATTAAGTACTTACTACATGCTAAGTTCTACCCTACTTACTTTACATGAATTATATCATTTCACCTTAAAATTTCCCCATAGCAGACACTATTATTTTGGTTACATAAATGAGTAGAGCCAGGATTTCAAACCACAAGTCAGGTTCCAAAGTCTGCAGTCTTAGCCATGATACTATGCCTTTACGTTT... | TTTCTCATCCATGCTACGAAAGTCCTCCATAGTGGGAACTAGGTCTCCCGCTCACTGAATACAGACAAGCTGCCCTCTGCCCACAGTATTCTAAATACAGTACTTTCAAAAATAATAATAACAGCTAACACTCATTAAGTACTTACTACATGCTAAGTTCTACCCTACTTACTTTACATGAATTATATCATTTCACCTTAAAATTTCCCCATAGCAGACACTATTATTTTGGTTACATAAATGAGTAGAGCCAGGATTTCAAACCACAAGTCAGGTTCCAAAGTCTGCAGTCTTAGCCATGATACTATGCCTTTACGTTT... | pathogenic | 122,983 |
Considering the variant on chromosome 7, location 97864267, involving gene ASNS, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_microcephaly_-_severe_encephalopathy_-_progressive_cerebral_atrophy_syndrome'] | GTAACAAACCTGCACGTTATGCACATGTACCCTAGAACTTAAAGTATAATAATAATAATAATAAATGAGCTATCAAGCCATGAAAAAACACAGAAGAACTATAAATGTATACTGCTAGGTGAAAGAAGCCAGTCTGAAAAAGCTACATACTATATGATTACAACTATTATACGACATTCTGGGAAAGGCAAAGTGAGAGAGAAAGCAAAAAGATCAGTAATGACTGGGGGGTTAGGAGGAAGAGGACGGGAGGAAAGAATAAGTGGAGCACAGGAGATTTTTAGGGCAATGAAACTGTTCTACATAATACTGTAATGGTG... | GTAACAAACCTGCACGTTATGCACATGTACCCTAGAACTTAAAGTATAATAATAATAATAATAAATGAGCTATCAAGCCATGAAAAAACACAGAAGAACTATAAATGTATACTGCTAGGTGAAAGAAGCCAGTCTGAAAAAGCTACATACTATATGATTACAACTATTATACGACATTCTGGGAAAGGCAAAGTGAGAGAGAAAGCAAAAAGATCAGTAATGACTGGGGGGTTAGGAGGAAGAGGACGGGAGGAAAGAATAAGTGGAGCACAGGAGATTTTTAGGGCAATGAAACTGTTCTACATAATACTGTAATGGTG... | pathogenic | 122,988 |
Evaluate the clinical significance of the mutation at chromosome 7, position 98937283 in gene TRRAP (transformation/transcription domain associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGACACGGCCCTGCCATCATGGGATTTGCAGTTAGATAAAGTAACCCCCTGTTTTGAGGAGAAAAAAAAACGTGATGGTATCAGAGTGGGTGAGAAAAAAACATGGTGGTATCAGAGTGGGTGAGAAAGTGTCTAAGAATTCTTTCCACTAATGAAGTAAACTGAGTTTTGCCTTAAAGAGGCTCAGTCATACTTTGATACTTAAAATCTTTAGGATTTGAGCTTAGTTTGTCAGTTGTTAATTGTGTTGCAGTGTGTGGAAGATTGCTGTGTTCTGTTATTTGCAAGGTTATTATGTCTTCACAGGAAGAGTGGGCTAA... | AGACACGGCCCTGCCATCATGGGATTTGCAGTTAGATAAAGTAACCCCCTGTTTTGAGGAGAAAAAAAAACGTGATGGTATCAGAGTGGGTGAGAAAAAAACATGGTGGTATCAGAGTGGGTGAGAAAGTGTCTAAGAATTCTTTCCACTAATGAAGTAAACTGAGTTTTGCCTTAAAGAGGCTCAGTCATACTTTGATACTTAAAATCTTTAGGATTTGAGCTTAGTTTGTCAGTTGTTAATTGTGTTGCAGTGTGTGGAAGATTGCTGTGTTCTGTTATTTGCAAGGTTATTATGTCTTCACAGGAAGAGTGGGCTAA... | benign | 123,070 |
Classify the chromosome 7 variant at position 100101744 affecting gene AP4M1 (adaptor related protein complex 4 subunit mu 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_spastic_paraplegia_50', 'Intellectual_disability'] | CGGCTACGTCGTCCAGGTCCACATACAGAGCCACCTGTTCCCGATGAGCCAGCCGAACCTCAAGTGGGGAAGAGACAGAAACACCTCAGAGCCACATTCACTTTGCTCACCAGTGTTCATATGTGAAAATGCATCACTGAGAACTCAGCACAGGCTCTGGGCATCCACAGGGGAGAACGCAGCGCCACACAGAGCGATACTCGCTTTTCAGCCCTCAAACCCTCTAATTGTTATGTCTTTAATAAAACAAGCCAAGCTGCTGCTTATGGCTCCTTAAGCACCCCGCTCCCCATTCCCTTTACCCAATCTTAGACTTACCA... | CGGCTACGTCGTCCAGGTCCACATACAGAGCCACCTGTTCCCGATGAGCCAGCCGAACCTCAAGTGGGGAAGAGACAGAAACACCTCAGAGCCACATTCACTTTGCTCACCAGTGTTCATATGTGAAAATGCATCACTGAGAACTCAGCACAGGCTCTGGGCATCCACAGGGGAGAACGCAGCGCCACACAGAGCGATACTCGCTTTTCAGCCCTCAAACCCTCTAATTGTTATGTCTTTAATAAAACAAGCCAAGCTGCTGCTTATGGCTCCTTAAGCACCCCGCTCCCCATTCCCTTTACCCAATCTTAGACTTACCA... | pathogenic | 123,220 |
Mutation found at chromosome 7 position 100101962, gene AP4M1 (adaptor related protein complex 4 subunit mu 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_spastic_paraplegia_50'] | ACCCTCTAATTGTTATGTCTTTAATAAAACAAGCCAAGCTGCTGCTTATGGCTCCTTAAGCACCCCGCTCCCCATTCCCTTTACCCAATCTTAGACTTACCAACTGGTTCCCATACTTGAACTGCTTCTTCCCGAGTTCATCATCCTGGTAGAACTCTTGTAAGAACTTCTTAACCTTTTCTGTAACATGAAATGTAAAACCGTAAGACACAAACTTTAAGACAAATCTTAGATACCCATTTTCGCTTAAAACACGACCTATGAACTAATTAATAATATGAGCATTTAAATAAACCTACCGAAGTCTCCCCAAAGTGGGC... | ACCCTCTAATTGTTATGTCTTTAATAAAACAAGCCAAGCTGCTGCTTATGGCTCCTTAAGCACCCCGCTCCCCATTCCCTTTACCCAATCTTAGACTTACCAACTGGTTCCCATACTTGAACTGCTTCTTCCCGAGTTCATCATCCTGGTAGAACTCTTGTAAGAACTTCTTAACCTTTTCTGTAACATGAAATGTAAAACCGTAAGACACAAACTTTAAGACAAATCTTAGATACCCATTTTCGCTTAAAACACGACCTATGAACTAATTAATAATATGAGCATTTAAATAAACCTACCGAAGTCTCCCCAAAGTGGGC... | pathogenic | 123,224 |
Is the genetic change at chromosome 7, position 100102741, within gene AP4M1 (adaptor related protein complex 4 subunit mu 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_spastic_paraplegia_50', 'Spastic_paraplegia'] | ACGCCCCCCCGGGCCGCAGCTCTCTCCGCGGCCGCCGCGCGGAAGGACACTGTTTACACGACACTCCCTCCAGCCTCCTCGCGCCACTTCCGCCCGGCTCCACTTCCGCTCGGAGGGCGGCCTCAAACGGCCAATCCCGGCGCGCAGCGGCCCCGGCCTGCCCGCCCCCGGGGCCTACGCGCGCCTGGGGAGGGCGCGGGAACCTGGGAATGCCCAAAAGCGCGAAGGAAAGCGGGCACGGGAGCCCAGAGCCCTTAAGACTCTCCTGAGGTCCTGGGCGCGACTTTTCCCTGTGCAGCCCCCAGCCGGGTTAGCGCGCC... | ACGCCCCCCCGGGCCGCAGCTCTCTCCGCGGCCGCCGCGCGGAAGGACACTGTTTACACGACACTCCCTCCAGCCTCCTCGCGCCACTTCCGCCCGGCTCCACTTCCGCTCGGAGGGCGGCCTCAAACGGCCAATCCCGGCGCGCAGCGGCCCCGGCCTGCCCGCCCCCGGGGCCTACGCGCGCCTGGGGAGGGCGCGGGAACCTGGGAATGCCCAAAAGCGCGAAGGAAAGCGGGCACGGGAGCCCAGAGCCCTTAAGACTCTCCTGAGGTCCTGGGCGCGACTTTTCCCTGTGCAGCCCCCAGCCGGGTTAGCGCGCC... | pathogenic | 123,228 |
Gene AP4M1 (adaptor related protein complex 4 subunit mu 1) variant at chromosome 7, position 100105449—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_spastic_paraplegia_50'] | ACCACTAGGACTATGGCTATGTACAGACCACATCCACGGAGATGCTGAGGAATTTCATCCAGACGGAAGCTGTGGTCAGCAAGCCCTTCAGCCTCTTTGACCTCAGCAGCGTTGGCTTGGTCAGTAGAGGGAAAGAGGAGGGTGAGGAAAGAGAAGAGGGGTTGGCTGGGGTTGTCAGACCTGATGATTGATTGCTTTGGATGCTTTACAGTTTGGGGCTGAGACACAACAGAGCAAAGTGGCCCCCAGCAGTGCAGCCAGCCGCCCCGTCCTGTCCAGTCGCTCTGACCAGGTGAGGGAAGGATCCATGGGGTCAGACG... | ACCACTAGGACTATGGCTATGTACAGACCACATCCACGGAGATGCTGAGGAATTTCATCCAGACGGAAGCTGTGGTCAGCAAGCCCTTCAGCCTCTTTGACCTCAGCAGCGTTGGCTTGGTCAGTAGAGGGAAAGAGGAGGGTGAGGAAAGAGAAGAGGGGTTGGCTGGGGTTGTCAGACCTGATGATTGATTGCTTTGGATGCTTTACAGTTTGGGGCTGAGACACAACAGAGCAAAGTGGCCCCCAGCAGTGCAGCCAGCCGCCCCGTCCTGTCCAGTCGCTCTGACCAGGTGAGGGAAGGATCCATGGGGTCAGACG... | pathogenic | 123,243 |
Is the variant located on chromosome 7 at position 100106504, gene AP4M1 (adaptor related protein complex 4 subunit mu 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic | TAAGGCTGCAGTAAGCCAAGATCGAGTCACTGCACGCTAGCCCGGATGACAGAGCAAGACCCTGTCTCTTAAAAAAAATAAATAAGTAAAAAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGGATCACTTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTACTTATGGTGGCAGGCATCTGTAACCCTAGCTACTTGTGAGGCTGAGGCAGGAGAATGTCTTGAACCTGGGAGGTGGAGGTTGCAGTG... | TAAGGCTGCAGTAAGCCAAGATCGAGTCACTGCACGCTAGCCCGGATGACAGAGCAAGACCCTGTCTCTTAAAAAAAATAAATAAGTAAAAAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGGATCACTTAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTACTTATGGTGGCAGGCATCTGTAACCCTAGCTACTTGTGAGGCTGAGGCAGGAGAATGTCTTGAACCTGGGAGGTGGAGGTTGCAGTG... | pathogenic | 123,257 |
The genetic variant at chromosome 7, position 100112961, affecting gene TAF6 (TATA-box binding protein associated factor 6): benign or pathogenic? Disease name(s) if pathogenic? | benign | CAGAGGGTGCGGTCAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGGTATTACAGACAAGCCTCAAGACCCTTAGACCCCCACAAGTTCCAGTCCCTCTTCCCTCTGCCCCCTTGTTTCCAGTGTGACTTCCCCCAACCAGAGGTGGCCAGTGATGAAGCAAATGACGCTCAAGTTTTCCTGGCTCACCTTGGTGAAGGTCTTGGTGATCCGGGACTGGATGTTGTTAGTGGTTGTGCTAAAATGCTTGCAGATCTGGGCCACCAGGCGGGCAGCAAAGTCT... | CAGAGGGTGCGGTCAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGGTATTACAGACAAGCCTCAAGACCCTTAGACCCCCACAAGTTCCAGTCCCTCTTCCCTCTGCCCCCTTGTTTCCAGTGTGACTTCCCCCAACCAGAGGTGGCCAGTGATGAAGCAAATGACGCTCAAGTTTTCCTGGCTCACCTTGGTGAAGGTCTTGGTGATCCGGGACTGGATGTTGTTAGTGGTTGTGCTAAAATGCTTGCAGATCTGGGCCACCAGGCGGGCAGCAAAGTCT... | benign | 123,282 |
Variant in TAF6 (TATA-box binding protein associated factor 6), chromosome 7, position 100113838—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGAGTAGGGCCAGGTTGTTCTGAACCACGTTCACACGGACCTGTGGGAGGGAGAAGTGCTGGGCATGGGGCAGGGAGACCCTCACAGGAGCTTCCACTGCCGTCCCTGCACTGTGGAACCTCATGCTCTCACCCCCTCCGAGATAAAGGTACTGAACCGTGGCAGCATCTGATACAGTCCAGGGTCCGTGGCAATGCTTTGCAGGGCTTCCTGTGGGAGGAGGGAAGCCAGTCAGGTGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCG... | TGAGTAGGGCCAGGTTGTTCTGAACCACGTTCACACGGACCTGTGGGAGGGAGAAGTGCTGGGCATGGGGCAGGGAGACCCTCACAGGAGCTTCCACTGCCGTCCCTGCACTGTGGAACCTCATGCTCTCACCCCCTCCGAGATAAAGGTACTGAACCGTGGCAGCATCTGATACAGTCCAGGGTCCGTGGCAATGCTTTGCAGGGCTTCCTGTGGGAGGAGGGAAGCCAGTCAGGTGGGGGTGGGATGTGGGGAGCAATTCATAGGGCCCCCAGGAGGAGGCGTCTCAGGGCCAGGGCAAGCTGGTGGGGCCCTCACCG... | benign | 123,288 |
Determine whether the variant at chromosome 7, position 100621026, in gene TFR2 (transferrin receptor 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC... | AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC... | pathogenic | 123,330 |
Variant on chromosome 7, at position 100621034, affecting TFR2 (transferrin receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTC... | GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTC... | pathogenic | 123,331 |
Evaluate this variant at chromosome 7, position 100621079, gene TFR2 (transferrin receptor 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCATGAATTTATG... | GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCGCACCCAGCAATTTTTTTACTTTTTGTAGAGATAAGATTTCACCATATTGCCCAGGCTGCTCCGGAACGCCTATGCTCAAGCAATCTGCCTGCCTTGGCTTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCAACCTTGAAATTCCTAATAATTTTTGTTACCCTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCATGAATTTATG... | pathogenic | 123,333 |
Is the variant located on chromosome 7 at position 100626766, gene TFR2, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | TTAGCGGAGTGTGGTAGTGTGTCCTTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATG... | TTAGCGGAGTGTGGTAGTGTGTCCTTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATG... | pathogenic | 123,336 |
Evaluate if the mutation on chromosome 7 at position 100626798 in TFR2 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | CCAGCTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTT... | CCAGCTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTT... | pathogenic | 123,338 |
Gene TFR2 variant at chromosome position 100626802 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | CTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTT... | CTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTT... | pathogenic | 123,339 |
Does the variant on chromosome 7 at location 100626802 affecting gene TFR2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hemochromatosis_type_3'] | CTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTT... | CTACTCAGGAGGCTGAGGTGAGGTGAGAGGATTGCTTGAGCCCGGGAGGTGGAGGTTGCCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTT... | pathogenic | 123,340 |
Does the chromosome 7 mutation at position 100626860 within gene TFR2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | CCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGCTCTCGGC... | CCGTGAGCCCAGATCATGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGACCGTCTCAGAAAAAAAAAAAACAAAAAAACAAGCGGCAGTTTGAATTTGGCCAATGGGCAGTAGTTCACCAACCCCTGGTCTAGAGCCATAAAATTCACTGGGTCTGGCCCAATCCTGTATTGCAGGCTCTGAAGTCCTGAGTCCTTCCCTCTCCATCCCTGAGCCTGAGTCATGCATCTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGCTCTCGGC... | pathogenic | 123,342 |
Is the genetic variant on chromosome 7, position 100627386, gene TFR2 (transferrin receptor 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | CGTAAGCCACCGTGCCTGGCCTAAGTCATGCATCTTACACGCAGGTCCCTTTTATCCCTGGTGGGGACAGGGGTATGGCAACTTTGAAAGGTGGGTGTTTTTGTCTTCTGCATGCTGACACAGCTGAGGTTAAACCAAGATCTGTGAATGAGAATGAACCATACCCAACCTATTGCCTCACCCCAGGGTCACCCCTGTTCCAGTAGAGGAGGCAAAGGTTAAAGAAGAATGAATGGAGAAAGAGATATAAGAAGGAGAGGAGAAGGCCAGGTTCAGTAGCTCACGCCTGTAACCCCAGCAATTTGGGAGGCCGAGGCAGG... | CGTAAGCCACCGTGCCTGGCCTAAGTCATGCATCTTACACGCAGGTCCCTTTTATCCCTGGTGGGGACAGGGGTATGGCAACTTTGAAAGGTGGGTGTTTTTGTCTTCTGCATGCTGACACAGCTGAGGTTAAACCAAGATCTGTGAATGAGAATGAACCATACCCAACCTATTGCCTCACCCCAGGGTCACCCCTGTTCCAGTAGAGGAGGCAAAGGTTAAAGAAGAATGAATGGAGAAAGAGATATAAGAAGGAGAGGAGAAGGCCAGGTTCAGTAGCTCACGCCTGTAACCCCAGCAATTTGGGAGGCCGAGGCAGG... | pathogenic | 123,348 |
Regarding the variant found on chromosome 7 at position 100627447 in gene TFR2 (transferrin receptor 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | TGGGGACAGGGGTATGGCAACTTTGAAAGGTGGGTGTTTTTGTCTTCTGCATGCTGACACAGCTGAGGTTAAACCAAGATCTGTGAATGAGAATGAACCATACCCAACCTATTGCCTCACCCCAGGGTCACCCCTGTTCCAGTAGAGGAGGCAAAGGTTAAAGAAGAATGAATGGAGAAAGAGATATAAGAAGGAGAGGAGAAGGCCAGGTTCAGTAGCTCACGCCTGTAACCCCAGCAATTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCT... | TGGGGACAGGGGTATGGCAACTTTGAAAGGTGGGTGTTTTTGTCTTCTGCATGCTGACACAGCTGAGGTTAAACCAAGATCTGTGAATGAGAATGAACCATACCCAACCTATTGCCTCACCCCAGGGTCACCCCTGTTCCAGTAGAGGAGGCAAAGGTTAAAGAAGAATGAATGGAGAAAGAGATATAAGAAGGAGAGGAGAAGGCCAGGTTCAGTAGCTCACGCCTGTAACCCCAGCAATTTGGGAGGCCGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCT... | pathogenic | 123,351 |
Chromosome 7, position 100628226, gene TFR2 (transferrin receptor 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | GAAGTGGAGGAGTTGGAACTGGAGGTGGGGTGTGGGCTGCAAAGGATTCAAAGCTAAGCAGAAGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATT... | GAAGTGGAGGAGTTGGAACTGGAGGTGGGGTGTGGGCTGCAAAGGATTCAAAGCTAAGCAGAAGGGATTGGTGAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATT... | pathogenic | 123,359 |
Evaluate the clinical significance of the mutation at chromosome 7, position 100628298 in gene TFR2 (transferrin receptor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | GAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCATTTCATCACT... | GAGGGAATAAGCTCTTGTTTAACTTTCACGTGACACCTCCTCCAGGCAGCCTTTCTGGATTTCACCCATTTCATTATCAGAAGGAAAACAGCTCTCTTACTCTGAATATCTTTAGCCTTCTGCACTTCCCAGCCTGTAACCTCGTATTGTGGACCAGTGTGGACATGCTTTTTCTTTCCAGAAGGGTCGAGGAGGCAGTGGGAGCTATAGGAGGGGAGTCAGCGGGGAGGGGTGGGGGAGGGTGGATTGTCCCAGTTCTGCCAGGCGTAAACCAGGCGACTGTGGCCAAGAGGCTGGCCCTCCCTGTCCATTTCATCACT... | pathogenic | 123,362 |
A genetic variant on chromosome 7, position 100630995, affects the gene TFR2 (transferrin receptor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | AGTAGAGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCTACCGCACCCGGCCTCACTTTCATTTTTAGGTGACGAAATAGAGGTGAAGTGACTGGCCCAGGGCCACTCAGGTACAATGTGGATGCCGAGGTCCAAGTGACCACTGGCCAGTCTGTGTCCCTCACTGCCTCTCTGCCCTATCCTCCTCGGGCCACAGGCCCACCGCTGCCTAGCCCAGGCCCAGGCCCTGGCCCTGACCTTACCGTTGCTCACCATG... | AGTAGAGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCTACCGCACCCGGCCTCACTTTCATTTTTAGGTGACGAAATAGAGGTGAAGTGACTGGCCCAGGGCCACTCAGGTACAATGTGGATGCCGAGGTCCAAGTGACCACTGGCCAGTCTGTGTCCCTCACTGCCTCTCTGCCCTATCCTCCTCGGGCCACAGGCCCACCGCTGCCTAGCCCAGGCCCAGGCCCTGGCCCTGACCTTACCGTTGCTCACCATG... | pathogenic | 123,369 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 100631836, gene TFR2 (transferrin receptor 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | CAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACGGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAATTTCTCTTATTTTTAAATTTTTTGTGAAGTCTTGGCTTTGTTGCCCCATCTGTCAATTACTT... | CAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACGGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAATTTCTCTTATTTTTAAATTTTTTGTGAAGTCTTGGCTTTGTTGCCCCATCTGTCAATTACTT... | pathogenic | 123,370 |
Does the genetic variant at chromosome 7, position 100633505, impacting gene TFR2 (transferrin receptor 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGGTCAGGGTCTCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTAGTCATGGCTCACTGCAGGCTTAAACAAGAGTCACCTTTTTCTAGTTCACCCACAATCACCCTGTGGCCTCGCTGCAGCCTTCCTCTCTCTGCTTCCT... | TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGGGGGGCACCTGTAATCCTAGATACTCTGGAGTCTGAGGCAGAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGAAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGGTCAGGGTCTCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTAGTCATGGCTCACTGCAGGCTTAAACAAGAGTCACCTTTTTCTAGTTCACCCACAATCACCCTGTGGCCTCGCTGCAGCCTTCCTCTCTCTGCTTCCT... | pathogenic | 123,375 |
Considering the genetic mutation at chromosome 7, position 100640752, impacting TFR2 (transferrin receptor 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | TCGCACCACTGCACTCCAGCCTGGGCAACAGTGAAACTCTGTCTCAAAAAAAGTAAAAAAAAAAAAAATAGCCGGGCATAGTGGCACACATCTGTAGTCCTAGCTACTTGAAAGGCTAAGGTGGGAGGATCACTTGGGTCCAGGAGTTGGAGGCTGCAGTGAGCTATCATCTCGGCACTGTCTGGGTGACAGTGAGGCCCTATCTCAAAAAAATAAAGCCCTGAACATTGTTGATTCCACAGACTCAAGGTCTTTCAGCAGGTGAATCCAGCAACATATCAAAAGAGTAATCATACACCTTGATCAAGGTTAGCGTTGAG... | TCGCACCACTGCACTCCAGCCTGGGCAACAGTGAAACTCTGTCTCAAAAAAAGTAAAAAAAAAAAAAATAGCCGGGCATAGTGGCACACATCTGTAGTCCTAGCTACTTGAAAGGCTAAGGTGGGAGGATCACTTGGGTCCAGGAGTTGGAGGCTGCAGTGAGCTATCATCTCGGCACTGTCTGGGTGACAGTGAGGCCCTATCTCAAAAAAATAAAGCCCTGAACATTGTTGATTCCACAGACTCAAGGTCTTTCAGCAGGTGAATCCAGCAACATATCAAAAGAGTAATCATACACCTTGATCAAGGTTAGCGTTGAG... | pathogenic | 123,377 |
Does the variant on chromosome 7 at location 100641475 affecting gene TFR2 (transferrin receptor 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hemochromatosis_type_3', 'Hereditary_hemochromatosis'] | ATTCAATTTTAAAAAGCTGTCTGGAGCACAGCAAAGTTCATTGTCAATGGCAAAGTATTATAAAAGCATTGCTATTAAAGTCAGGAAATAGGCAAGGATACCTACTGCCACGGTTACCTTAAATTCATGTCCTCTCAAATGCAATGAGAAATGAAAAAAAAAAAAACGTAGAAGGTATAAGCATTGGAAAAGAGAATCTCCATCTCCTACTATCTGTAGCTTAGCTGATTACCTACTTAGAAAACCCAGGCGAATCCACTGAAAAATTACTCCCGTCCCAAAAGAGGGCTATGGGTGGACCTAGCTTTTGGATCTGCACC... | ATTCAATTTTAAAAAGCTGTCTGGAGCACAGCAAAGTTCATTGTCAATGGCAAAGTATTATAAAAGCATTGCTATTAAAGTCAGGAAATAGGCAAGGATACCTACTGCCACGGTTACCTTAAATTCATGTCCTCTCAAATGCAATGAGAAATGAAAAAAAAAAAAACGTAGAAGGTATAAGCATTGGAAAAGAGAATCTCCATCTCCTACTATCTGTAGCTTAGCTGATTACCTACTTAGAAAACCCAGGCGAATCCACTGAAAAATTACTCCCGTCCCAAAAGAGGGCTATGGGTGGACCTAGCTTTTGGATCTGCACC... | pathogenic | 123,387 |
Chromosome 7, position 100812842, gene EPHB4 (EPH receptor B4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TGAACTGGATCCTGGTTGGAATAAAGCAGCAGTGAAGGACATCTTTAGAACAACTAGAGAAACGTGAAAATCAACTGGGTATTCAATGACGCTAGGGAATCGCTATAACTCTGTTCAATGCAATGTTATTTTGCTACATAGAAAAATGTTTTGATTTTTTTAAAAAGATGCCTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGGGGCCGAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGTCTCTACTAAAAATACAAACATCAGCTGGGTATG... | TGAACTGGATCCTGGTTGGAATAAAGCAGCAGTGAAGGACATCTTTAGAACAACTAGAGAAACGTGAAAATCAACTGGGTATTCAATGACGCTAGGGAATCGCTATAACTCTGTTCAATGCAATGTTATTTTGCTACATAGAAAAATGTTTTGATTTTTTTAAAAAGATGCCTAGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGGGGCCGAGATGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGTCTCTACTAAAAATACAAACATCAGCTGGGTATG... | pathogenic | 123,454 |
For chromosome 7, position 100819814, gene EPHB4 (EPH receptor B4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_2', 'Lymphatic_malformation_7'] | GTGTTCTACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTGTGCCCAGTCTAATTTTTTTCATTTTAAGTATTTTTTGCGTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGTTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTC... | GTGTTCTACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTGTGCCCAGTCTAATTTTTTTCATTTTAAGTATTTTTTGCGTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGTTCTTTCGCCCAGGCCGGACTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTC... | pathogenic | 123,493 |
Regarding the variant found on chromosome 7 at position 100822472 in gene EPHB4 (EPH receptor B4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | GGTTCAAGACCAGCCTGGGCAACATATCGAGATCCCATCTCCAAAAAAAAAAAAAAAAATTCCAGCTTCTTTTAAGGCTGATGAAGTGCTAAGGTGGGAAAATGGACAAAAGATCTCAAAACCTTTCCTCTTAGAGGAGAAAGGAGACTCTCTCCAGAGAAGGGGTCCTCACCTGTTTCGACCCTGATCTCGGCAGTCTGGTGAAGCCCACAGAAAGACCTCTACTCCAACTTATGATTTTAAAAGCACTCCACAAAATACATAGGAATACCAGGGAAACCAATTAAGCTGAAATGCAATGAAACATGAGGAAAAAAGTT... | GGTTCAAGACCAGCCTGGGCAACATATCGAGATCCCATCTCCAAAAAAAAAAAAAAAAATTCCAGCTTCTTTTAAGGCTGATGAAGTGCTAAGGTGGGAAAATGGACAAAAGATCTCAAAACCTTTCCTCTTAGAGGAGAAAGGAGACTCTCTCCAGAGAAGGGGTCCTCACCTGTTTCGACCCTGATCTCGGCAGTCTGGTGAAGCCCACAGAAAGACCTCTACTCCAACTTATGATTTTAAAAGCACTCCACAAAATACATAGGAATACCAGGGAAACCAATTAAGCTGAAATGCAATGAAACATGAGGAAAAAAGTT... | pathogenic | 123,509 |
Evaluate this variant at chromosome 7, position 100826963, gene EPHB4: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GGGAAGGCAGAGGGGAGGAGATTCTGGGGGGCGGTATGAATGGGAGGGGTGAACACACCTGGCTTGGCTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGT... | GGGAAGGCAGAGGGGAGGAGATTCTGGGGGGCGGTATGAATGGGAGGGGTGAACACACCTGGCTTGGCTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGT... | benign | 123,535 |
Clinical significance of chromosome 7, position 100826964, gene EPHB4: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGAAGGCAGAGGGGAGGAGATTCTGGGGGGCGGTATGAATGGGAGGGGTGAACACACCTGGCTTGGCTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGTC... | GGAAGGCAGAGGGGAGGAGATTCTGGGGGGCGGTATGAATGGGAGGGGTGAACACACCTGGCTTGGCTCGGATCATCGGGGGAGGGGACAGGCACTGGAGGAAGGGGGGGGATTAGGAAAAACTGCACAGCCCCTGGCAGTGGAGAGTGGAGGAGGGAGGGTACAGGAATCCCCTCGGGGGCCGGCAATGTGGGGGGCATTGGGCGCTGGGAAGGGTGGAGAGGGGAGCCAGAACACCTGGCTCCCACCCCATGGGAGCTGCAGGAGAGAAGAGAAAGAGGGTGGGTGAGGCAGCCTCTTCCTGGGGACCAAATGATGTC... | benign | 123,536 |
The mutation impacting AP1S1 (adaptor related protein complex 1 subunit sigma 1) on chromosome 7 at position 101159123: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['MEDNIK_syndrome'] | CACACACGCACACACACACCCTTTCCGGTTCCTTCTCCTCGGAGCAGGTAAATTACTTGGCTCAGGTTTTTGCTGAGTCAAACTTAGGAGGTCAGAGGGCAGGAAGGAAAAAGCATGCGTTCTTTGCATGTTTTTAAGACAGCACAAAGAGGCAGGTGAGTTACTCTTTACATGCCCTAGGGCCACCTCACCTGTGGCCAGCCAGGGCACAGACCACCTCCAGGCTGGTGAGAGGTTTGAGACCAGAATGCCTGGGTCCTGAAGCAAGCTTGTAGCGATGTCTCATGCGCTCCTCTCCGCAGATATGCCAGCCTCTACTT... | CACACACGCACACACACACCCTTTCCGGTTCCTTCTCCTCGGAGCAGGTAAATTACTTGGCTCAGGTTTTTGCTGAGTCAAACTTAGGAGGTCAGAGGGCAGGAAGGAAAAAGCATGCGTTCTTTGCATGTTTTTAAGACAGCACAAAGAGGCAGGTGAGTTACTCTTTACATGCCCTAGGGCCACCTCACCTGTGGCCAGCCAGGGCACAGACCACCTCCAGGCTGGTGAGAGGTTTGAGACCAGAATGCCTGGGTCCTGAAGCAAGCTTGTAGCGATGTCTCATGCGCTCCTCTCCGCAGATATGCCAGCCTCTACTT... | pathogenic | 123,590 |
Variant on chromosome 7, at position 101159123, affecting AP1S1 (adaptor related protein complex 1 subunit sigma 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['MEDNIK_syndrome'] | CACACACGCACACACACACCCTTTCCGGTTCCTTCTCCTCGGAGCAGGTAAATTACTTGGCTCAGGTTTTTGCTGAGTCAAACTTAGGAGGTCAGAGGGCAGGAAGGAAAAAGCATGCGTTCTTTGCATGTTTTTAAGACAGCACAAAGAGGCAGGTGAGTTACTCTTTACATGCCCTAGGGCCACCTCACCTGTGGCCAGCCAGGGCACAGACCACCTCCAGGCTGGTGAGAGGTTTGAGACCAGAATGCCTGGGTCCTGAAGCAAGCTTGTAGCGATGTCTCATGCGCTCCTCTCCGCAGATATGCCAGCCTCTACTT... | CACACACGCACACACACACCCTTTCCGGTTCCTTCTCCTCGGAGCAGGTAAATTACTTGGCTCAGGTTTTTGCTGAGTCAAACTTAGGAGGTCAGAGGGCAGGAAGGAAAAAGCATGCGTTCTTTGCATGTTTTTAAGACAGCACAAAGAGGCAGGTGAGTTACTCTTTACATGCCCTAGGGCCACCTCACCTGTGGCCAGCCAGGGCACAGACCACCTCCAGGCTGGTGAGAGGTTTGAGACCAGAATGCCTGGGTCCTGAAGCAAGCTTGTAGCGATGTCTCATGCGCTCCTCTCCGCAGATATGCCAGCCTCTACTT... | pathogenic | 123,591 |
Is the genetic variant on chromosome 7, position 102196984, gene CUX1 (cut like homeobox 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Global_developmental_delay_with_or_without_impaired_intellectual_development', 'Neurodevelopmental_disorder'] | ATCACTTGAACCCAGGAGCCAGAGGGTACAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATTAAAAAATCAAATCAAATAAAATTGACATCCTAAGTGGAATCTGACTCCTGATGCCCAGAAGACAGCCAACATCTTTGTGGCTGGCAAAAAAAAAAAAAAAAGAAAAGTTCCCTTTACAGTAACGTTCGGACAGACGTTTGTGGCTTGGCAGCCAGTCTTATGGCCAAATGAGGCACGGGCTCAGGTCGCTTGAGTTTGAGAACAGATGAGAGAATAATTAATTT... | ATCACTTGAACCCAGGAGCCAGAGGGTACAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAATTAAAAAATCAAATCAAATAAAATTGACATCCTAAGTGGAATCTGACTCCTGATGCCCAGAAGACAGCCAACATCTTTGTGGCTGGCAAAAAAAAAAAAAAAAGAAAAGTTCCCTTTACAGTAACGTTCGGACAGACGTTTGTGGCTTGGCAGCCAGTCTTATGGCCAAATGAGGCACGGGCTCAGGTCGCTTGAGTTTGAGAACAGATGAGAGAATAATTAATTT... | pathogenic | 123,661 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 102227397, gene CUX1 (cut like homeobox 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Global_developmental_delay_with_or_without_impaired_intellectual_development'] | TACAAAATATTCCTTGTAGTTGGAATGTATTTATGGCAGGTTAGTGTATCCTGGATACAGTATGTCCAGAAAAGGACTCTTAAGATAAATGGTAAATTGAAGTTAAGTTGCTGCTCTATGCTACATTTTCTTTTCAGCCAGGTAACAAGTATTTTGGGCTATCTACTATGGTGCTGATGTTGACTGAGTGACCTGCTAGGGCCCAAGGGAGAAGCAGCAAGAGTAAGACCCTTGGCCAGGCACAGTGGCTCCTGCCTGTAAACCCAGCACTTTGGGAGGCCAAGAAGGGAGGATCACTTGAGGCCAGGAGTTCAGCCTAG... | TACAAAATATTCCTTGTAGTTGGAATGTATTTATGGCAGGTTAGTGTATCCTGGATACAGTATGTCCAGAAAAGGACTCTTAAGATAAATGGTAAATTGAAGTTAAGTTGCTGCTCTATGCTACATTTTCTTTTCAGCCAGGTAACAAGTATTTTGGGCTATCTACTATGGTGCTGATGTTGACTGAGTGACCTGCTAGGGCCCAAGGGAGAAGCAGCAAGAGTAAGACCCTTGGCCAGGCACAGTGGCTCCTGCCTGTAAACCCAGCACTTTGGGAGGCCAAGAAGGGAGGATCACTTGAGGCCAGGAGTTCAGCCTAG... | pathogenic | 123,667 |
The mutation in gene CUX1 (cut like homeobox 1) at chromosome 7, position 102248852—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAGCCATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCTACCATGCCCAGCCTCAGAAAGCCTTATTGGCCGGGCTTGGTGGCTTATACCTGTAGTATCAACACTTTGGGAGGCCAAGGCAGCAGAATCACTTCAGCCCAGGAGGTCAAGTTTGCAGTAAACTATGATCTTGCCCCTGCACTCCAGCCTAAGCAACATCATGAGATCCTGTCTCTACAATATTTTAAAAATTTAGGCATGGTGGTATACACCTGTGGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGGATCACCTGAGCCTGGGAG... | AAGCCATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCTACCATGCCCAGCCTCAGAAAGCCTTATTGGCCGGGCTTGGTGGCTTATACCTGTAGTATCAACACTTTGGGAGGCCAAGGCAGCAGAATCACTTCAGCCCAGGAGGTCAAGTTTGCAGTAAACTATGATCTTGCCCCTGCACTCCAGCCTAAGCAACATCATGAGATCCTGTCTCTACAATATTTTAAAAATTTAGGCATGGTGGTATACACCTGTGGTCCTAGCTACTCAGGAGGCTGAGGCAGGAGGATCACCTGAGCCTGGGAG... | benign | 123,674 |
Determine whether the variant at chromosome 7, position 103420728, in gene SLC26A5 (solute carrier family 26 member 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GATTTGTTTTTGACAAGTTATTTTTTTGGAAACTGGCTAGAAGGGAATTGATTTTTGGCCAGCTGACCTACAGCTGTTCAAGCCATTATCACCTTTGCCTACCATGAGCTGCTGTCACCTCTACCTGGTCTCCTCACATCCATTCTGGTGCCTCTCCCACTACCCAAATCCATTCCCCCCACAGCAGTCTTCAGTGACCTCTTACAAAGTGATATGGTTTGGCTGTGTCCCTACGCAAATCTCATCTTGAATTGTAGCTCCCATAATTCCCATGTGTTGTGAGAGGGACCGGATAGGAGGTAATTGAATCATGGGGGCGG... | GATTTGTTTTTGACAAGTTATTTTTTTGGAAACTGGCTAGAAGGGAATTGATTTTTGGCCAGCTGACCTACAGCTGTTCAAGCCATTATCACCTTTGCCTACCATGAGCTGCTGTCACCTCTACCTGGTCTCCTCACATCCATTCTGGTGCCTCTCCCACTACCCAAATCCATTCCCCCCACAGCAGTCTTCAGTGACCTCTTACAAAGTGATATGGTTTGGCTGTGTCCCTACGCAAATCTCATCTTGAATTGTAGCTCCCATAATTCCCATGTGTTGTGAGAGGGACCGGATAGGAGGTAATTGAATCATGGGGGCGG... | benign | 123,728 |
The mutation impacting RELN on chromosome 7 at position 103492033: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTATTTGTGAGAAAAGGGCTTCCCAAATGTCTTCCTGAAGCACCCTGCTGGCAGAGGTGAGAGAACTTGTATTTCTTAGACTCTGGGAGTATAACCCAAAATGCCATTCTGGAAGCTTGTATCTTCTCTGAAAATTTCATGTGAATTTCCTATTCTAGTCCATAATAAATCTGTGTACATTTTTCCTACACAGGTGTATCGTTTTCCAAATCTTTGAGTAAACCGAATGCTGCTCTAGGAAGATTGCACTCCATTGTATTTATCCTGCAGCTTTGTGTAACCTGTCAGCCCTGCACACCCAGCTGGTATTTGTATCTGGA... | CTATTTGTGAGAAAAGGGCTTCCCAAATGTCTTCCTGAAGCACCCTGCTGGCAGAGGTGAGAGAACTTGTATTTCTTAGACTCTGGGAGTATAACCCAAAATGCCATTCTGGAAGCTTGTATCTTCTCTGAAAATTTCATGTGAATTTCCTATTCTAGTCCATAATAAATCTGTGTACATTTTTCCTACACAGGTGTATCGTTTTCCAAATCTTTGAGTAAACCGAATGCTGCTCTAGGAAGATTGCACTCCATTGTATTTATCCTGCAGCTTTGTGTAACCTGTCAGCCCTGCACACCCAGCTGGTATTTGTATCTGGA... | benign | 123,766 |
Gene RELN variant at chromosome 7, position 103496532—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_temporal_lobe_epilepsy_7', 'Norman-Roberts_syndrome'] | TGTGCCTCAGCTTCCTGAGCAGCTAGGACTACAAGTACATGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTGGTAGAGATAGGGGGTCTTGCTATGTTTCCCAGGATGGTCTTGAACTCTTGGCCTCAGAGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTTTGCAATAGAGATACATCAATTGATATTGCTTTGCCTTTCTCTGAGTGTCTATTAATTATTTATGTCTTCACTTTCATCCTATATGAATCAAGTATTCAGTTTAAAATATTTGAGAGTCCTCCTTAATTTTTTGAGGA... | TGTGCCTCAGCTTCCTGAGCAGCTAGGACTACAAGTACATGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTGGTAGAGATAGGGGGTCTTGCTATGTTTCCCAGGATGGTCTTGAACTCTTGGCCTCAGAGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTTTGCAATAGAGATACATCAATTGATATTGCTTTGCCTTTCTCTGAGTGTCTATTAATTATTTATGTCTTCACTTTCATCCTATATGAATCAAGTATTCAGTTTAAAATATTTGAGAGTCCTCCTTAATTTTTTGAGGA... | pathogenic | 123,771 |
Gene RELN variant at chromosome 7, position 103498280—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GACACATTAATTACTAAAGAAACTAAAATTATTTTCGGGTATTGAAATTTCAAATTATATTTAAAGCCAGACATTGAGCCTTTAACATGATTTATTGAATGCTCAGTGGACATTTCAAAAAGCAGCCAACTTTGAAGATTTATAAACCACTGGGCAAAATAACAGCTAACATTTGTTGAGCAGGAGTATGGGCTAGGCACTCTTATAAATGCTTTTCATGTGCTAATCTATCTGAAGACATAAGCAGAAAAATGGCTCACAGGAAAGAAAATTGTTCAATGTCTTGTTTCTTACCATCATCAAAAGTGTCCACCAATTGG... | GACACATTAATTACTAAAGAAACTAAAATTATTTTCGGGTATTGAAATTTCAAATTATATTTAAAGCCAGACATTGAGCCTTTAACATGATTTATTGAATGCTCAGTGGACATTTCAAAAAGCAGCCAACTTTGAAGATTTATAAACCACTGGGCAAAATAACAGCTAACATTTGTTGAGCAGGAGTATGGGCTAGGCACTCTTATAAATGCTTTTCATGTGCTAATCTATCTGAAGACATAAGCAGAAAAATGGCTCACAGGAAAGAAAATTGTTCAATGTCTTGTTTCTTACCATCATCAAAAGTGTCCACCAATTGG... | benign | 123,780 |
Is the variant located on chromosome 7 at position 103545383, gene RELN (reelin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TATTATTGCCTATTAAATAACGCCTTTAAGGCTGGGTGCGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTCATCTTGGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGCGGAGGTGGCAGTTAGCCGAAGATTGTGCCACTTCACTCCGGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAATA... | TATTATTGCCTATTAAATAACGCCTTTAAGGCTGGGTGCGGTGGCTCACACCTGTAATCACAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGGTGGCAGGTGCCTGTCATCTTGGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGCGGAGGTGGCAGTTAGCCGAAGATTGTGCCACTTCACTCCGGCCTGGGTGAAAGAGCAAAACTCCATCTCAAAAAATA... | benign | 123,841 |
Variant chromosome 7, position 103561959, gene RELN (reelin): benign or pathogenic? Disease(s)? | benign | ATTATGGAATGCAAGTATAAAGTTGTTCCCATGGGTCAATACAAGTCACTCATAAAGGGACCTATTTTACACTGTATTTTGTAGGAGCAATTTTATTGAAAGTGAGCATGATTTGTAATCTGAAAGTATCTTTCTTTTATATTTGTAATATTTGTTTATAGGTTAGCATTTTATATTGATATTTATACAGCAGAACTGTCAAACTCTGCTGCCACATATATTCTAGTTCACAGACATATGTTTCTTTTCTCATCCTTTTTCAGGTTCAGTGATCCATTTGTGCTAAATGTGAGAAATTCTTTTGCAACAAACAAGCTATT... | ATTATGGAATGCAAGTATAAAGTTGTTCCCATGGGTCAATACAAGTCACTCATAAAGGGACCTATTTTACACTGTATTTTGTAGGAGCAATTTTATTGAAAGTGAGCATGATTTGTAATCTGAAAGTATCTTTCTTTTATATTTGTAATATTTGTTTATAGGTTAGCATTTTATATTGATATTTATACAGCAGAACTGTCAAACTCTGCTGCCACATATATTCTAGTTCACAGACATATGTTTCTTTTCTCATCCTTTTTCAGGTTCAGTGATCCATTTGTGCTAAATGTGAGAAATTCTTTTGCAACAAACAAGCTATT... | benign | 123,869 |
Is the genetic variant on chromosome 7, position 103565554, gene RELN (reelin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | benign | 123,875 |
Is the genetic variant on chromosome 7, position 103565554, gene RELN (reelin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | benign | 123,876 |
A genetic variant on chromosome 7, position 103565554, affects the gene RELN (reelin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | AGTCCAAAAGTTTTAAAAAAAGTTTATATAATGGAAAAGTTATAGTAAGGTAAATTTATTATTGAAGAAAGAAAAATATTCTTTTTTTAAATTTAGTGGAGCCTAAGTGCATAGTGTTTATGAAATCTATAGTAGTGTACAGTAATATTCTAGGCCTTCACATTCACTCACCACTCACTCACCCACTCACCCAGAGCAACTTCCAGTCCTGTAAGCTCTGTTTATCGGAAGTGCCCTATACAAGTGTACCATTTAAAAATCTTTTATACCATATTTTTATTGTACCTTTCCTATGTTTAGATATGTTTAGATATACAAAT... | benign | 123,877 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 103630182, gene RELN (reelin): what disease(s) if pathogenic? | benign | CAATTTAAATGTTCAGAAGCATAAAATTCTAAGAAATCTCATTTTGTTCTACATCTTTACACCTTCTTTGCTTTAATCGTTTATCTTCTTTAAAGTCTCCAGGACTAAGAAAGAACATCTGTAAAAACAAGCATCTGAGGCTATCAAATAGAAAATGTGTCGTTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCCAGCCTGGGTGACAAGAACGAAACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAGAAAGAAAATGTGCAATATAACCTTCCCTACTTTGTCTTATAGAAATT... | CAATTTAAATGTTCAGAAGCATAAAATTCTAAGAAATCTCATTTTGTTCTACATCTTTACACCTTCTTTGCTTTAATCGTTTATCTTCTTTAAAGTCTCCAGGACTAAGAAAGAACATCTGTAAAAACAAGCATCTGAGGCTATCAAATAGAAAATGTGTCGTTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCCAGCCTGGGTGACAAGAACGAAACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAGAAAGAAAATGTGCAATATAACCTTCCCTACTTTGTCTTATAGAAATT... | benign | 123,919 |
The chromosome 7, position 103630182 genetic variant in gene RELN (reelin): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CAATTTAAATGTTCAGAAGCATAAAATTCTAAGAAATCTCATTTTGTTCTACATCTTTACACCTTCTTTGCTTTAATCGTTTATCTTCTTTAAAGTCTCCAGGACTAAGAAAGAACATCTGTAAAAACAAGCATCTGAGGCTATCAAATAGAAAATGTGTCGTTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCCAGCCTGGGTGACAAGAACGAAACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAGAAAGAAAATGTGCAATATAACCTTCCCTACTTTGTCTTATAGAAATT... | CAATTTAAATGTTCAGAAGCATAAAATTCTAAGAAATCTCATTTTGTTCTACATCTTTACACCTTCTTTGCTTTAATCGTTTATCTTCTTTAAAGTCTCCAGGACTAAGAAAGAACATCTGTAAAAACAAGCATCTGAGGCTATCAAATAGAAAATGTGTCGTTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCCAGCCTGGGTGACAAGAACGAAACTCTGTCTCAGAAAAACAAAACAAAACAAAACCAGAAAGAAAATGTGCAATATAACCTTCCCTACTTTGTCTTATAGAAATT... | benign | 123,920 |
Variant on chromosome 7, at position 103661529, affecting RELN: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCAAACATATGACATACCTTTATTCTTGTGCCCTTTTTTCATAATGGCTTAGCTTGGAATTCTCTTCCTTAAATTTAAATCATGCCCATCCTTCAAGGGTGAGTTCAAATGCCATCTCCTTCATGAAGCTTTACCCTAATCCCTCCACTGCAATTACAGCTTCCTCTATACTCTCATAGCATTTCATTCCATTACAGCACACTGCATTCTACCTTATAGTCAGATGGTACTTGTGGGTGGGAACTCAGATTAATTTTTATATCAATAACAACAGAGATATACTGAGTCTAAATATTTATTTGGCAGTTTTGAGTGCTTTT... | CCAAACATATGACATACCTTTATTCTTGTGCCCTTTTTTCATAATGGCTTAGCTTGGAATTCTCTTCCTTAAATTTAAATCATGCCCATCCTTCAAGGGTGAGTTCAAATGCCATCTCCTTCATGAAGCTTTACCCTAATCCCTCCACTGCAATTACAGCTTCCTCTATACTCTCATAGCATTTCATTCCATTACAGCACACTGCATTCTACCTTATAGTCAGATGGTACTTGTGGGTGGGAACTCAGATTAATTTTTATATCAATAACAACAGAGATATACTGAGTCTAAATATTTATTTGGCAGTTTTGAGTGCTTTT... | benign | 123,944 |
A mutation at chromosome position 103697837 on chromosome 7 in gene RELN (reelin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGGTAGTGGGATATGACATACGCTATTCTGACGAATGTTTTTTTCTAGACTCATACAAAAGAAATCCATGGCTCTTGAAGGAGCCATGACTTCAGACTCAATCAGAATAAATTTCCATAAGGTTTACTGCTTGTATTGAGCAAAGATGATGCCTGTTCCTAATGTCAATTAGTATACTTTCAAATCAAAGCAACATGACTAGGGTTTGACTTGTTAAGCAAGAAGTCATTTCCATCAGGAGAGTTCCTGTGTTGAGGGTTCACCAAATAATTTGTAATAGTTTTTCTGGTGCTCAACTCTATTATTAAAAGGAGGTGAGC... | TGGTAGTGGGATATGACATACGCTATTCTGACGAATGTTTTTTTCTAGACTCATACAAAAGAAATCCATGGCTCTTGAAGGAGCCATGACTTCAGACTCAATCAGAATAAATTTCCATAAGGTTTACTGCTTGTATTGAGCAAAGATGATGCCTGTTCCTAATGTCAATTAGTATACTTTCAAATCAAAGCAACATGACTAGGGTTTGACTTGTTAAGCAAGAAGTCATTTCCATCAGGAGAGTTCCTGTGTTGAGGGTTCACCAAATAATTTGTAATAGTTTTTCTGGTGCTCAACTCTATTATTAAAAGGAGGTGAGC... | benign | 123,949 |
A mutation at chromosome position 103917201 on chromosome 7 in gene RELN (reelin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TTGCACCTGCTGTTCTTTCCTTTGGGTATGCTGTGCCCCACCATCCACAGACCTTTAGTTAATAATCTCTACTCCTTCATAGCTCTACTCAAATACCATTTCCTCAGGAACACCTTTCCAAATTACACCACACTTTACTCAAGACTGGATCTAGTTTCTCTGTCATACCCTTTCCCAGCACTCAGTACACTTCTTTGCCAGCCCCTAGCAAGGTTTGCTATGACATATTTACATGACCATTTAATCAACATCTGTCTTTCCAATAGAATAGAAGTCCTCACACTTTAACATGGATCAACATCACCTGGAGTGTTGATTTC... | TTGCACCTGCTGTTCTTTCCTTTGGGTATGCTGTGCCCCACCATCCACAGACCTTTAGTTAATAATCTCTACTCCTTCATAGCTCTACTCAAATACCATTTCCTCAGGAACACCTTTCCAAATTACACCACACTTTACTCAAGACTGGATCTAGTTTCTCTGTCATACCCTTTCCCAGCACTCAGTACACTTCTTTGCCAGCCCCTAGCAAGGTTTGCTATGACATATTTACATGACCATTTAATCAACATCTGTCTTTCCAATAGAATAGAAGTCCTCACACTTTAACATGGATCAACATCACCTGGAGTGTTGATTTC... | benign | 123,974 |
Considering the genetic mutation at chromosome 7, position 103989356, impacting RELN (reelin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTATTTCTACTCTATGTTATCCATTCCTTTTCAGACTTAGATATGTGATTATGGTGAGTCTTAAGGTGACTTGCATTTGCTATTCAAGGGTGCAAGGGAGCAAAACCAAAGGGTGTATGATATTTTGGTGTTTTTAGTTAAGTTTTCAATATCGAGACCTTCCAAAGGATGTGGAAAACAGAAAAAATAATAATAAAGCTTTGTATCATCACATGGTCTTCCATCATAACCTGACAGTCACGCCTTTGAGACCAGCCTCACTCACTTACCCACCGTTCTCACTGAGAGATCATACCGGGCAAGAACTTTTGCTAAGAGTC... | TTATTTCTACTCTATGTTATCCATTCCTTTTCAGACTTAGATATGTGATTATGGTGAGTCTTAAGGTGACTTGCATTTGCTATTCAAGGGTGCAAGGGAGCAAAACCAAAGGGTGTATGATATTTTGGTGTTTTTAGTTAAGTTTTCAATATCGAGACCTTCCAAAGGATGTGGAAAACAGAAAAAATAATAATAAAGCTTTGTATCATCACATGGTCTTCCATCATAACCTGACAGTCACGCCTTTGAGACCAGCCTCACTCACTTACCCACCGTTCTCACTGAGAGATCATACCGGGCAAGAACTTTTGCTAAGAGTC... | benign | 123,976 |
Variant on chromosome 7, at position 103989356, affecting RELN (reelin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTATTTCTACTCTATGTTATCCATTCCTTTTCAGACTTAGATATGTGATTATGGTGAGTCTTAAGGTGACTTGCATTTGCTATTCAAGGGTGCAAGGGAGCAAAACCAAAGGGTGTATGATATTTTGGTGTTTTTAGTTAAGTTTTCAATATCGAGACCTTCCAAAGGATGTGGAAAACAGAAAAAATAATAATAAAGCTTTGTATCATCACATGGTCTTCCATCATAACCTGACAGTCACGCCTTTGAGACCAGCCTCACTCACTTACCCACCGTTCTCACTGAGAGATCATACCGGGCAAGAACTTTTGCTAAGAGTC... | TTATTTCTACTCTATGTTATCCATTCCTTTTCAGACTTAGATATGTGATTATGGTGAGTCTTAAGGTGACTTGCATTTGCTATTCAAGGGTGCAAGGGAGCAAAACCAAAGGGTGTATGATATTTTGGTGTTTTTAGTTAAGTTTTCAATATCGAGACCTTCCAAAGGATGTGGAAAACAGAAAAAATAATAATAAAGCTTTGTATCATCACATGGTCTTCCATCATAACCTGACAGTCACGCCTTTGAGACCAGCCTCACTCACTTACCCACCGTTCTCACTGAGAGATCATACCGGGCAAGAACTTTTGCTAAGAGTC... | benign | 123,977 |
Variant in gene KMT2E (lysine methyltransferase 2E (inactive)), located at chromosome 7 position 105063465: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | TGAACTGACCTCAGATGTAGGTTCACAACCTTGTTGATCAATAGGAATTAACCAAGTAGAGCTCAGGAGGATTGGTAAGAGTAAAGAAGTTGGGAAAGTGATGTATGTAAAATGCTAGGCCAGGGAGCTTGTAAGTCAACAACAGTGGGCAAATTGTATCAGTAGTTGATCAGTCTCCATCATCTAAGACCAGAATTGCTCATCTTACAGATAGCTGTTTATGTTTTTTTTCAGGTATAAATCCTGGTTTATTTTGAAACTTCCTATTACTTAAGTTTACTGACATTTCCAAGGCTTTATTATATTAATATCTGGTCACA... | TGAACTGACCTCAGATGTAGGTTCACAACCTTGTTGATCAATAGGAATTAACCAAGTAGAGCTCAGGAGGATTGGTAAGAGTAAAGAAGTTGGGAAAGTGATGTATGTAAAATGCTAGGCCAGGGAGCTTGTAAGTCAACAACAGTGGGCAAATTGTATCAGTAGTTGATCAGTCTCCATCATCTAAGACCAGAATTGCTCATCTTACAGATAGCTGTTTATGTTTTTTTTCAGGTATAAATCCTGGTTTATTTTGAAACTTCCTATTACTTAAGTTTACTGACATTTCCAAGGCTTTATTATATTAATATCTGGTCACA... | pathogenic | 123,983 |
Is chromosome 7, position 105101475, gene KMT2E (lysine methyltransferase 2E (inactive)) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | AGAAGATTATGAACCATCTCTAAATACAGGATTTTGCTCTGACTATAAATTAGCTGTAGTGTTTACAGGGGAGTTTGATTTTTTAATTGAATGTTTATATCATATAGTTTTATCTCTGACCAAAACAAGAAAATATTTCTTGTATCCCAAACAAGAAAATATTGGACTATGTCAGACTCTGTTGGCATAAATTCATATTTACCTTACAACACCCAGGATAATCATACTACAAAAAATATCTTCCTTGGGTGCCCACCTGTGGGTAGTTTTTTATTTTACACATACAATGATTTTTGCCAAGACAAGTTTGTTTCTTCTGG... | AGAAGATTATGAACCATCTCTAAATACAGGATTTTGCTCTGACTATAAATTAGCTGTAGTGTTTACAGGGGAGTTTGATTTTTTAATTGAATGTTTATATCATATAGTTTTATCTCTGACCAAAACAAGAAAATATTTCTTGTATCCCAAACAAGAAAATATTGGACTATGTCAGACTCTGTTGGCATAAATTCATATTTACCTTACAACACCCAGGATAATCATACTACAAAAAATATCTTCCTTGGGTGCCCACCTGTGGGTAGTTTTTTATTTTACACATACAATGATTTTTGCCAAGACAAGTTTGTTTCTTCTGG... | pathogenic | 123,994 |
Is the genetic variant on chromosome 7, position 105107197, gene KMT2E (lysine methyltransferase 2E (inactive)), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Global_developmental_delay', "O'Donnell-Luria-Rodan_syndrome"] | AGAGATATCTTGTCTCAAAAAAAAAAGTAATACAAATTTCATGTAATATAAATATTTAAAAAGCAACCATATGTTTTGTTCTACAAAATAATTGGGTAAAAAGTTTCAGAATAACAGTAGATAACTAAGAAATGTAAAAGGACATACTGATATTTTGATCACATATGAATGATTTAAATTACCCAATTTATCATTTTAGATAATACACCAATTTCAAATCTGGTATTAGAATATTCAAGGGAGAATTTGGAATTACATATATAATGATCCAATTTTTTTCTTTTCTCTAGCACTTGGTTAATGAATGGTTAAGTGAGAAG... | AGAGATATCTTGTCTCAAAAAAAAAAGTAATACAAATTTCATGTAATATAAATATTTAAAAAGCAACCATATGTTTTGTTCTACAAAATAATTGGGTAAAAAGTTTCAGAATAACAGTAGATAACTAAGAAATGTAAAAGGACATACTGATATTTTGATCACATATGAATGATTTAAATTACCCAATTTATCATTTTAGATAATACACCAATTTCAAATCTGGTATTAGAATATTCAAGGGAGAATTTGGAATTACATATATAATGATCCAATTTTTTTCTTTTCTCTAGCACTTGGTTAATGAATGGTTAAGTGAGAAG... | pathogenic | 124,002 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 105108961, gene KMT2E (lysine methyltransferase 2E (inactive)). What disease(s) is it linked to if pathogenic? | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | CATTTATATGAATTTAGATGTTTTTATTTTTACTAAAATGAGCATAACTTTCATCTTGTTGATATACACAGTAGACTAAATGTGTGTATCTAATTGATCTTAAAGCAGTCTTATTTGGGGAATGGAAATAAACAGGAAACAAGATCTAAAACTAAAGTCTGTATATTTTTCATTTTGTTTTCATTTCTATAATTATTATGGATATACTTACGTATTTTTAAATTTTCAATTCTAATTCTTTCTTTATATACAGAATATTTCTTCCCCAGAAAGTTCTCCAGAAATAAAGAGACGCACTTATAGTCAAGAGGTAAGAAGTT... | CATTTATATGAATTTAGATGTTTTTATTTTTACTAAAATGAGCATAACTTTCATCTTGTTGATATACACAGTAGACTAAATGTGTGTATCTAATTGATCTTAAAGCAGTCTTATTTGGGGAATGGAAATAAACAGGAAACAAGATCTAAAACTAAAGTCTGTATATTTTTCATTTTGTTTTCATTTCTATAATTATTATGGATATACTTACGTATTTTTAAATTTTCAATTCTAATTCTTTCTTTATATACAGAATATTTCTTCCCCAGAAAGTTCTCCAGAAATAAAGAGACGCACTTATAGTCAAGAGGTAAGAAGTT... | pathogenic | 124,010 |
Does the variant on chromosome 7 at location 105109142 affecting gene KMT2E (lysine methyltransferase 2E (inactive)) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | CATTTCTATAATTATTATGGATATACTTACGTATTTTTAAATTTTCAATTCTAATTCTTTCTTTATATACAGAATATTTCTTCCCCAGAAAGTTCTCCAGAAATAAAGAGACGCACTTATAGTCAAGAGGTAAGAAGTTAACTTAAAAAGGGTGAATTGGTAGTTTTTTTCCTATTACATTGTTTTCCTTAAATTACTGGTAAATTTTGAAATAAACAGTCCCAAGATGTGATTATTTGTGTAATTTTTTTTTTTAATTTGTAAACAGGGATATGACAGATCTTCAACCATGTTAACATTGGGGCCTTTTAGAAATTCTA... | CATTTCTATAATTATTATGGATATACTTACGTATTTTTAAATTTTCAATTCTAATTCTTTCTTTATATACAGAATATTTCTTCCCCAGAAAGTTCTCCAGAAATAAAGAGACGCACTTATAGTCAAGAGGTAAGAAGTTAACTTAAAAAGGGTGAATTGGTAGTTTTTTTCCTATTACATTGTTTTCCTTAAATTACTGGTAAATTTTGAAATAAACAGTCCCAAGATGTGATTATTTGTGTAATTTTTTTTTTTAATTTGTAAACAGGGATATGACAGATCTTCAACCATGTTAACATTGGGGCCTTTTAGAAATTCTA... | pathogenic | 124,014 |
Variant at chromosome 7, position 105112388, gene KMT2E (lysine methyltransferase 2E (inactive)): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | CAGTGATCACCGAAAAGATAAAGATAGTGGTAAGTGAGCTTGTTCCTTCACCAGAAAGTGGAATCAGTTAATCACTCTGCATCCTCGTTCTTTGCAGCTCTAATGTTCTCTTTGGGTCTGCTCTGCTTCATCTCTAGGGGGAGAATCACCATGTGTCTCATGTTCACCGAGTCATGTTCAGTCTTCACCTTCATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGA... | CAGTGATCACCGAAAAGATAAAGATAGTGGTAAGTGAGCTTGTTCCTTCACCAGAAAGTGGAATCAGTTAATCACTCTGCATCCTCGTTCTTTGCAGCTCTAATGTTCTCTTTGGGTCTGCTCTGCTTCATCTCTAGGGGGAGAATCACCATGTGTCTCATGTTCACCGAGTCATGTTCAGTCTTCACCTTCATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGA... | pathogenic | 124,022 |
The chromosome 7, position 105112391 genetic variant in gene KMT2E (lysine methyltransferase 2E (inactive)): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGATCACCGAAAAGATAAAGATAGTGGTAAGTGAGCTTGTTCCTTCACCAGAAAGTGGAATCAGTTAATCACTCTGCATCCTCGTTCTTTGCAGCTCTAATGTTCTCTTTGGGTCTGCTCTGCTTCATCTCTAGGGGGAGAATCACCATGTGTCTCATGTTCACCGAGTCATGTTCAGTCTTCACCTTCATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAG... | TGATCACCGAAAAGATAAAGATAGTGGTAAGTGAGCTTGTTCCTTCACCAGAAAGTGGAATCAGTTAATCACTCTGCATCCTCGTTCTTTGCAGCTCTAATGTTCTCTTTGGGTCTGCTCTGCTTCATCTCTAGGGGGAGAATCACCATGTGTCTCATGTTCACCGAGTCATGTTCAGTCTTCACCTTCATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAG... | benign | 124,024 |
Clinical classification of chromosome 7, position 105112579, gene KMT2E (lysine methyltransferase 2E (inactive)): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'KMT2E-related_disorder', "O'Donnell-Luria-Rodan_syndrome"] | CATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAGCCTTTATAAAAAGTTGGTTTGGATAGTAGAATGTATGTTGCTTTGTGGTGTTAAAACAGTGTTTATTGTGTAATTTTATACTTACTATAGGTTTCTTCTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGT... | CATCTCATTCAAATCACATACCCCAGTTGCAAGCTAAGGGCCCAGTCCCTTCTTTCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAGCCTTTATAAAAAGTTGGTTTGGATAGTAGAATGTATGTTGCTTTGTGGTGTTAAAACAGTGTTTATTGTGTAATTTTATACTTACTATAGGTTTCTTCTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGT... | pathogenic | 124,026 |
Evaluate if the mutation on chromosome 7 at position 105112633 in KMT2E (lysine methyltransferase 2E (inactive)) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | TCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAGCCTTTATAAAAAGTTGGTTTGGATAGTAGAATGTATGTTGCTTTGTGGTGTTAAAACAGTGTTTATTGTGTAATTTTATACTTACTATAGGTTTCTTCTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGTCCTCCAAAAATGAGCAAGGTAATAACATTGACCTTTCGATGGGTTCCAAAGGAC... | TCAGTGAACTTATGGAAGGTCAGTAAGCAGATGACCGATAATGTTATTCTTAACAAATTTTAAAATCAGACAAGAGAGCCTTTATAAAAAGTTGGTTTGGATAGTAGAATGTATGTTGCTTTGTGGTGTTAAAACAGTGTTTATTGTGTAATTTTATACTTACTATAGGTTTCTTCTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGTCCTCCAAAAATGAGCAAGGTAATAACATTGACCTTTCGATGGGTTCCAAAGGAC... | pathogenic | 124,027 |
Regarding the variant found on chromosome 7 at position 105112808 in gene KMT2E (lysine methyltransferase 2E (inactive)): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ["O'Donnell-Luria-Rodan_syndrome"] | CTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGTCCTCCAAAAATGAGCAAGGTAATAACATTGACCTTTCGATGGGTTCCAAAGGACTTTAGGTTGAGTGCAGAAAAGCTGATGGTTATAATATGCAGTGTTTTTCTGCTGTATCAAGTATCAACTTGTGACTTCTGGACACTTTTCCTGTCAGAAATACTCAATTGTGTTTACTACTGTTTGTTCTTCTTACTGAACATGTGATGGATAACTCTGACCAAACATTCAAGTT... | CTGCTTTATAGACCCTGATCCTGAAAATCCAGAACCCACAACTACGAATGAATGTCCATCCCCAGATACTTCTCAAAATACTTGTAAAAGTCCTCCAAAAATGAGCAAGGTAATAACATTGACCTTTCGATGGGTTCCAAAGGACTTTAGGTTGAGTGCAGAAAAGCTGATGGTTATAATATGCAGTGTTTTTCTGCTGTATCAAGTATCAACTTGTGACTTCTGGACACTTTTCCTGTCAGAAATACTCAATTGTGTTTACTACTGTTTGTTCTTCTTACTGAACATGTGATGGATAACTCTGACCAAACATTCAAGTT... | pathogenic | 124,031 |
Determine whether the variant at chromosome 7, position 105482444, in gene PUS7 (pseudouridine synthase 7) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ACCTGGGAGGTGGAGATTGCAGTGAGCCAACATTGCACCACTGTACTTCAGCCTGAACAACAAAGATTCCATCTCAAAAAAATAAAAAATAAAAAAAATAGCTGGGTGTGGAGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCTGAGGTCGGGGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATGCAAAATTAGCCAGTCATGGTGGCGCATGCCTGTAAACCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGATG... | ACCTGGGAGGTGGAGATTGCAGTGAGCCAACATTGCACCACTGTACTTCAGCCTGAACAACAAAGATTCCATCTCAAAAAAATAAAAAATAAAAAAAATAGCTGGGTGTGGAGGCTCATGCCTGTAATCCCAGCAGTTTGGGAGGCTGAGGTCGGGGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATGCAAAATTAGCCAGTCATGGTGGCGCATGCCTGTAAACCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGATG... | benign | 124,045 |
Chromosome 7, position 105508115, gene PUS7 (pseudouridine synthase 7): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature'] | ACCATGAGAACTCACAATGAATCATACATAGAATTCAAGTTTAATAAAGCTCTATATTTCTAAATCTCTAGGAAATGCTATTTTTATACAGAAGGTGACATTTGCTAAAGAGCTACTTCTACCTCCTCATCCACTGGAATGGACAAGTCATTCAAATGGCTGATCCGTCCATCTTTTCCTATTTCATGAACAACGAAGTCGGAGTATCTGATGAAAGAAAACATGAACTTTCAGATAATTAACATCCTGTTTTCTATTAATTTTAAGATAAAGTTGATCAACAGCAAGCCTTACTATTATGCAAAACAAGGAATTTTAAA... | ACCATGAGAACTCACAATGAATCATACATAGAATTCAAGTTTAATAAAGCTCTATATTTCTAAATCTCTAGGAAATGCTATTTTTATACAGAAGGTGACATTTGCTAAAGAGCTACTTCTACCTCCTCATCCACTGGAATGGACAAGTCATTCAAATGGCTGATCCGTCCATCTTTTCCTATTTCATGAACAACGAAGTCGGAGTATCTGATGAAAGAAAACATGAACTTTCAGATAATTAACATCCTGTTTTCTATTAATTTTAAGATAAAGTTGATCAACAGCAAGCCTTACTATTATGCAAAACAAGGAATTTTAAA... | pathogenic | 124,049 |
Regarding the variant at chromosome 7 and position 105565266, affecting gene RINT1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GACAGAAAGTCAATTAGTGGTTGCCTATGAGTTGAGGGAGTGGGGAGACGGTATTAGAGGATAACGGCTTTTTTCTTGGTGATGAAAATGTTCTAAAATTGTGATGGATATACAACTGAATATATAAAAAAATCATTGAATTATACACTATTATTAGTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGAGGCATGATCTCGGCTCACTGCAACTTCCACCTTCCAGGTTCAAGCTAGGATTACAGGCACATGCCACCACACCCGGCTTATTTTTGTATTTTTAGTAGAGTTGGAGTTTCACCATGTTG... | GACAGAAAGTCAATTAGTGGTTGCCTATGAGTTGAGGGAGTGGGGAGACGGTATTAGAGGATAACGGCTTTTTTCTTGGTGATGAAAATGTTCTAAAATTGTGATGGATATACAACTGAATATATAAAAAAATCATTGAATTATACACTATTATTAGTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGAGGCATGATCTCGGCTCACTGCAACTTCCACCTTCCAGGTTCAAGCTAGGATTACAGGCACATGCCACCACACCCGGCTTATTTTTGTATTTTTAGTAGAGTTGGAGTTTCACCATGTTG... | benign | 124,176 |
Is chromosome 7, position 107248501, gene COG5 (component of oligomeric golgi complex 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GCAAACTATGCATCTGACAAAGGTCTAAGATCCAGAATCCATAAGGAACTTAAACAAATTCACAAGGGAAAAACAAACAACCCCATTAAAAGGTGGGCAAAAGACATGAACAGACACTTCTCAAAAGAAGACGAAGACATACATGCAGCCAGCAATCACATGAAAAAATGCTCAACACCACTGATCATTAGAGAAATGCAAATCAAAACCGCAATGAGATACCATCTCACACCAGTCAGAATGGCTATCATTAAAAAGACAAAAAAATAAGATGCTGGTGAGGTTGCAGAGAAAAGGGAACACTTATACGCTGTGGTGGG... | GCAAACTATGCATCTGACAAAGGTCTAAGATCCAGAATCCATAAGGAACTTAAACAAATTCACAAGGGAAAAACAAACAACCCCATTAAAAGGTGGGCAAAAGACATGAACAGACACTTCTCAAAAGAAGACGAAGACATACATGCAGCCAGCAATCACATGAAAAAATGCTCAACACCACTGATCATTAGAGAAATGCAAATCAAAACCGCAATGAGATACCATCTCACACCAGTCAGAATGGCTATCATTAAAAAGACAAAAAAATAAGATGCTGGTGAGGTTGCAGAGAAAAGGGAACACTTATACGCTGTGGTGGG... | benign | 124,243 |
Is the chromosome 7, position 107283630 variant in COG5 (component of oligomeric golgi complex 5) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['COG5-congenital_disorder_of_glycosylation'] | TGGAGATGGCTTCCTTAATGACCAGTTTCTCATTAACAAAAGCATGTCATATGTGGGTTCAGTCTGTGATTAAAGGAGTAAATTGTGTACAGATTTTTAAAGTAGCACTCTTGCTAATACTGATAAAGTGCAAGCAGAGGCATTGCATATCACAGACATCTGCAAGGAAATGACAGCTCTTGAATGGAAATGATGACCTTAAAGGGACATAGGCTAAAAATATAAATTACACATGATATATAAAGATACTCAGCTTCTGTAGAAATTATGCCAATTCATGCTAGTTTCAATAGAGTAGCTTTTTAAATAATATAAAAGCA... | TGGAGATGGCTTCCTTAATGACCAGTTTCTCATTAACAAAAGCATGTCATATGTGGGTTCAGTCTGTGATTAAAGGAGTAAATTGTGTACAGATTTTTAAAGTAGCACTCTTGCTAATACTGATAAAGTGCAAGCAGAGGCATTGCATATCACAGACATCTGCAAGGAAATGACAGCTCTTGAATGGAAATGATGACCTTAAAGGGACATAGGCTAAAAATATAAATTACACATGATATATAAAGATACTCAGCTTCTGTAGAAATTATGCCAATTCATGCTAGTTTCAATAGAGTAGCTTTTTAAATAATATAAAAGCA... | pathogenic | 124,250 |
Variant chromosome 7, position 107412482, gene COG5 (component of oligomeric golgi complex 5): benign or pathogenic? Disease(s)? | benign | TGATGGGTTCATTTTGTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGTGATGGCAGGATCTCGGCTCACCGCAACCTCCGGCTCCTGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGATTACAGGAGTGCGCCACAATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTTAGGCTGGTCTCGAAATCCCAACCTTAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAACAGATTGATG... | TGATGGGTTCATTTTGTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGTGATGGCAGGATCTCGGCTCACCGCAACCTCCGGCTCCTGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGATTACAGGAGTGCGCCACAATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTTAGGCTGGTCTCGAAATCCCAACCTTAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAACAGATTGATG... | benign | 124,269 |
Evaluate if the mutation on chromosome 7 at position 107412558 in COG5 (component of oligomeric golgi complex 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['COG5-congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases'] | TCGGCTCACCGCAACCTCCGGCTCCTGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGATTACAGGAGTGCGCCACAATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTTAGGCTGGTCTCGAAATCCCAACCTTAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAACAGATTGATGTTTTAGGTTAATAAAAGAATTATGAGTTATAACAGGAACAAGGGAGTGGGAGGGCAGAAAAAACAGGAAGCTACAG... | TCGGCTCACCGCAACCTCCGGCTCCTGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGATTACAGGAGTGCGCCACAATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTTAGGCTGGTCTCGAAATCCCAACCTTAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAACAGATTGATGTTTTAGGTTAATAAAAGAATTATGAGTTATAACAGGAACAAGGGAGTGGGAGGGCAGAAAAAACAGGAAGCTACAG... | pathogenic | 124,271 |
Regarding the variant at chromosome 7 and position 107527216, affecting gene COG5 (component of oligomeric golgi complex 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGTGCCTGTTTTTGTTTTTTTTTTTCGAAGACATGACCATTTGTATTACAGAATCTGTCAATTATAGAAGAAATTATAATCATAATCCAATCAAAATTTAGCACTTTTTTAATATTGAAGGAAAGTCAGTGATGACAAACATCCATAATAAGCCTTGGAATAATATGCATCTATGTTTAATGATTCCATAATCCTACAAACTATTGTTGGTGCACAGATATTAAATGTGATAGAGCAAAACAGTGGCTGATACTTGGATTTTT... | CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGTGCCTGTTTTTGTTTTTTTTTTTCGAAGACATGACCATTTGTATTACAGAATCTGTCAATTATAGAAGAAATTATAATCATAATCCAATCAAAATTTAGCACTTTTTTAATATTGAAGGAAAGTCAGTGATGACAAACATCCATAATAAGCCTTGGAATAATATGCATCTATGTTTAATGATTCCATAATCCTACAAACTATTGTTGGTGCACAGATATTAAATGTGATAGAGCAAAACAGTGGCTGATACTTGGATTTTT... | benign | 124,274 |
Clinically, how would you classify the variant at chromosome 7, position 107527216, gene COG5 (component of oligomeric golgi complex 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGTGCCTGTTTTTGTTTTTTTTTTTCGAAGACATGACCATTTGTATTACAGAATCTGTCAATTATAGAAGAAATTATAATCATAATCCAATCAAAATTTAGCACTTTTTTAATATTGAAGGAAAGTCAGTGATGACAAACATCCATAATAAGCCTTGGAATAATATGCATCTATGTTTAATGATTCCATAATCCTACAAACTATTGTTGGTGCACAGATATTAAATGTGATAGAGCAAAACAGTGGCTGATACTTGGATTTTT... | CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGTGCCTGTTTTTGTTTTTTTTTTTCGAAGACATGACCATTTGTATTACAGAATCTGTCAATTATAGAAGAAATTATAATCATAATCCAATCAAAATTTAGCACTTTTTTAATATTGAAGGAAAGTCAGTGATGACAAACATCCATAATAAGCCTTGGAATAATATGCATCTATGTTTAATGATTCCATAATCCTACAAACTATTGTTGGTGCACAGATATTAAATGTGATAGAGCAAAACAGTGGCTGATACTTGGATTTTT... | benign | 124,275 |
Classify the chromosome 7 variant at position 107558113 affecting gene COG5 (component of oligomeric golgi complex 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['COG5-congenital_disorder_of_glycosylation', 'COG5-related_disorder'] | TAAAGGTCCTGAGACCTGAGAATTTAGAGACAGTTAAGAGAACCACATTGATCACTCCAGGATTTAGTCATCAGATATCTAGAGGCAGAATTTTAGCACTGGCATGGAAGGTAAGAACAGGTACTTCCAGGCCTCTGTATTGCATCTGTGGTAGTTCCTTCAACTCCGTCCACTAGCTATTCACCCAACAATTTTATAAGCATCCAAACTCTCTGTATGAAGTGTCTTTCTTAGAGTGATTTCTAGTTCCTGCACTAAACCCTAATAGTAAATGTTTTACAATTTTAGTCATCTCACTGATATAGACTACTGGGACTCGG... | TAAAGGTCCTGAGACCTGAGAATTTAGAGACAGTTAAGAGAACCACATTGATCACTCCAGGATTTAGTCATCAGATATCTAGAGGCAGAATTTTAGCACTGGCATGGAAGGTAAGAACAGGTACTTCCAGGCCTCTGTATTGCATCTGTGGTAGTTCCTTCAACTCCGTCCACTAGCTATTCACCCAACAATTTTATAAGCATCCAAACTCTCTGTATGAAGTGTCTTTCTTAGAGTGATTTCTAGTTCCTGCACTAAACCCTAATAGTAAATGTTTTACAATTTTAGTCATCTCACTGATATAGACTACTGGGACTCGG... | pathogenic | 124,285 |
Does the variant impacting SLC26A4 on chromosome 7, position 107661695, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pendred_syndrome'] | AGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGA... | AGAACCAGTGGTATACATAAGTAAAACATACACAAGAGATTCCTCCCCTCTTCTCTGTATGTGAATAAAAATTGCAAAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGA... | pathogenic | 124,301 |
Is the chromosome 7, position 107661771 variant in SLC26A4 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | AAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTGGAGCCTCTTCTGTATTTACTTCAGAACACTAACAATCAGGCGAGAATG... | AAGTTCATGACCTGGATTTTCCTTTTAGGTTTCTTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTGGAGCCTCTTCTGTATTTACTTCAGAACACTAACAATCAGGCGAGAATG... | pathogenic | 124,309 |
Chromosome 7, position 107661804, gene SLC26A4 (solute carrier family 26 member 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTGGAGCCTCTTCTGTATTTACTTCAGAACACTAACAATCAGGCGAGAATGTTCTGGTTTATCAAACCCTTCCTTCTGCCTTTC... | TTCTTTAGTGGTTCTTAACTTCATTGGGTGAAGTAAGCCTTTGAAGATCTGTTGAAAGCTGTTGACTCATTCACTTCTCAGGAAAACGCACATGCTGACTACCATTTCAGAGAATTTGCATCAGGGTTCTCTGGGGAGGAGTTCTGAGTTCTGTTTCCAGGAGCTCGTAGAATTGTCATGGTCTGCATATGCAAGGCAGGTGGATTACGGAAGGTTGATGTACAGAGGTCTGTATTTTGGAGCCTCTTCTGTATTTACTTCAGAACACTAACAATCAGGCGAGAATGTTCTGGTTTATCAAACCCTTCCTTCTGCCTTTC... | pathogenic | 124,312 |
Variant chromosome 7, position 107663409, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome', 'likely other unspecified diseases'] | GAGCAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTC... | GAGCAGGGGCTTACTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTC... | pathogenic | 124,330 |
Considering the variant on chromosome 7, location 107663422, involving gene SLC26A4 (solute carrier family 26 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome', 'Rare_genetic_deafness'] | CTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCT... | CTCGCTTCAAGTTTGGGGAACCCCGGGCAGCGGGTGCAGGCCACGAGACCCGAAGGTTCTCAGGTGCCCCCCTGCAGGCTGGCCGTGCGCGCCGTGGGGCGCTTGTCGCGAGCGCCGAGGGCTGCAGGACGCGGACCAGACTCGCGGTGCAGGGGGGCCTGGCTGCAGCTAACAGGTGATCCCGTTCTTTCTGTTCCTCGCTCTTCCCCTCCGATCGTCCTCGCTTACCGCGTGTCCTCCCTCCTCGCTGTCCTCTGGCTCGCAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCAGCTCCCCGAGTACAGCT... | pathogenic | 124,334 |
Does the variant impacting SLC26A4 (solute carrier family 26 member 4) on chromosome 7, position 107672181, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | GGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGA... | GGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGA... | pathogenic | 124,344 |
Regarding the variant found on chromosome 7 at position 107672192 in gene SLC26A4 (solute carrier family 26 member 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | CTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTT... | CTGTTGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTT... | pathogenic | 124,346 |
Assess the variant on chromosome 7, position 107672219, impacting SLC26A4 (solute carrier family 26 member 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | GCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATC... | GCAATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATC... | pathogenic | 124,348 |
Is the chromosome 7, position 107672245 variant in SLC26A4 (solute carrier family 26 member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | CCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATCAGTTTTGAATCTTGATTTTACTCACT... | CCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTACCCCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGGTGGTCTTGAGCTCCTGACCTCCTGATCCACCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGACTCACCGCGCCCGGTCCCTCCGGCTTTTTTTAATGCGTACACTCCCACAGGCTGGAGTGGGAGTGTATTTTTTACAAAAGAGGAAGCATACATACCTATCAGTTTTGAATCTTGATTTTACTCACT... | pathogenic | 124,353 |
Variant at chromosome 7, position 107674150, gene SLC26A4 (solute carrier family 26 member 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GGTTTGTGAATGTAATCACTTTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTA... | GGTTTGTGAATGTAATCACTTTGCATGTGCTTTCAGGGATGGCATATGCCCTACTAGCTGCAGTTCCTGTCGGATATGGTCTCTACTCTGCTTTTTTCCCTATCCTGACATACTTTATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTA... | benign | 124,356 |
Clinically, how would you classify the variant at chromosome 7, position 107674265, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTT... | TATCTTTGGAACATCAAGACATATCTCAGTTGGTAATTATAAGTATATTTTACAATTATATTTGCTCATGTTTAAAGTGTTTTGGCTATATTAAGTGCATTATACCTCTATTAGGTTGGTGCAAAAGTAATTGCGGTTTTCACAATTATACTTTTAATTGTGAAAACCGCAATTACTTTTGCACCAACCTAATATATCTGTGTTAATGTTGTCAGGGAAATGGGATTTCAGTGTTTTGCCTGCTTTTTCTATTCACTGATGTTAGGTAACTTTTTTAATGAAGTGGAAAAATAAAAAAACTGAAAATGACAGCCTACTTT... | pathogenic | 124,363 |
Regarding the variant at chromosome 7 and position 107674985, affecting gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | GGCTAGACATGTCTACCTCGATGATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATA... | GGCTAGACATGTCTACCTCGATGATCCTCTTGAAATAAATGCAACCATCTACTTTATCCCCAACCCATGTTTTTGTCCTTAGTTGTATTTCCTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATA... | pathogenic | 124,377 |
Gene SLC26A4 (solute carrier family 26 member 4) variant at chromosome 7, position 107675076—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | CTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGT... | CTTAGAAGGAGATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGT... | pathogenic | 124,385 |
Is the chromosome 7, position 107675087 variant in SLC26A4 (solute carrier family 26 member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | ATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAG... | ATCAGAAAGAGGTTTTGATTGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAG... | pathogenic | 124,386 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 107675106, gene SLC26A4 (solute carrier family 26 member 4): what disease(s) if pathogenic? | pathogenic; ['Pendred_syndrome'] | TGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACTTCATACTC... | TGAAAGAACTTCCACACCTTGGAGAATCAATCAGTGTTGAGTGCTTGACTAGATGAGGAACATGGAAGCTGGTTTTTCTCTTTGGTATTCTATACATTGAGATATTCCAGGTGACTGGGGTTGGGTTTTGAGACCTCAAAACCATAAAGCCTTCCATGATGAGAGGGTAGAATCATCATCATCGTCATGGATAAAAATAACAGTAGTGAACGGAGCAATTGCTGAAAAAAAAATATTTTTTAAAATATAAAATCTTACAGATTGACATTTGATATGAAAAAATGTTTTGTCTTACAAAAAGAGAAAGAAACTTCATACTC... | pathogenic | 124,388 |
Clinically, how would you classify the variant at chromosome 7, position 107683214, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | ACAAAGTGAATTTGTTAGTACTGGATTTCAAGAAAGAGCAAAAGTACCCTCTGAGTGAAAGTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAA... | ACAAAGTGAATTTGTTAGTACTGGATTTCAAGAAAGAGCAAAAGTACCCTCTGAGTGAAAGTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAA... | pathogenic | 124,393 |
Located at chromosome 7 position 107683274, the variant affecting gene SLC26A4 (solute carrier family 26 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'SLC26A4-related_disorder'] | GTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAAT... | GTTCAAGAGTCTTCCTACAAGTTAAATGCCTGAACTCTAGTCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAAT... | pathogenic | 124,394 |
Chromosome 7, position 107683314, gene SLC26A4 (solute carrier family 26 member 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Ear_malformation'] | TCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCA... | TCCAAGTGTTTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCA... | pathogenic | 124,397 |
Gene mutation in SLC26A4 (solute carrier family 26 member 4) at chromosome 7, position 107683323—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGAT... | TTGGTGGGAGGTATTTTGCATGCATAATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGAT... | pathogenic | 124,398 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 107683349, gene SLC26A4 (solute carrier family 26 member 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Pendred_syndrome'] | ATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATA... | ATAGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATA... | pathogenic | 124,400 |
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