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 at chromosome 5, position 83104942, within XRCC4 (X-ray repair cross complementing 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Short_stature,_microcephaly,_and_endocrine_dysfunction'] | TTGCACCACCACTTAGTGTGTGATCTTGGGTATTAAACTTTACCTCTGTTTTTTATTCATACAATGAGGATCCTGTTAGTTGCTATATTCATAGGGTTCCAGTAAAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGAT... | TTGCACCACCACTTAGTGTGTGATCTTGGGTATTAAACTTTACCTCTGTTTTTTATTCATACAATGAGGATCCTGTTAGTTGCTATATTCATAGGGTTCCAGTAAAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGAT... | pathogenic | 95,050 |
Gene mutation in XRCC4 (X-ray repair cross complementing 4) at chromosome 5, position 83104950—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Short_stature,_microcephaly,_and_endocrine_dysfunction'] | CCACTTAGTGTGTGATCTTGGGTATTAAACTTTACCTCTGTTTTTTATTCATACAATGAGGATCCTGTTAGTTGCTATATTCATAGGGTTCCAGTAAAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGATTAGGTTTT... | CCACTTAGTGTGTGATCTTGGGTATTAAACTTTACCTCTGTTTTTTATTCATACAATGAGGATCCTGTTAGTTGCTATATTCATAGGGTTCCAGTAAAGATAGAGCTGATATATATATATATATATATATGTCAACATATTTCCATTAATTATAGTACTTAATGGATTATTATTTAGTCACTAAGAATGCTAGGTGTAAAACTCTGTGCCACCATGAAAAAAGCTGTTTATAAGGTTTATTTAAACATGCGTGTCTGTGGATAAAGACAGAGGGAAATGTTCAGATAATCATTGTTTTGGGAAGGGCAAGATTAGGTTTT... | pathogenic | 95,051 |
For chromosome 5, position 87268456, gene RASA1 (RAS p21 protein activator 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome'] | AATCACTTGGAGGGTTTGTTAAAATGGATCGCTGCATATTTTCTGATTCAGAAGGTCTGAGGTGGCATTTCTGAATTCCTAGGATGTTGCGGCCTGAATTCACTTTGAGAACTCTAGCTCCTGTGACTGGTCCATCTTCCTTCTCCCAGGTAGCACACTGCTAAGAGATATGCGTAATGGAGGCCCCAGGACTACTCCTAATCAAGTTGGATTGTTGTCATTGACTAGGTAAATAGGCCTGTGCAAACTTACAAAGGCAATGCATTGCCTGTATCTTGTCACGTCTTTTAGTGGTCTTTTCTCTTTTTCCTGGGTTTCTA... | AATCACTTGGAGGGTTTGTTAAAATGGATCGCTGCATATTTTCTGATTCAGAAGGTCTGAGGTGGCATTTCTGAATTCCTAGGATGTTGCGGCCTGAATTCACTTTGAGAACTCTAGCTCCTGTGACTGGTCCATCTTCCTTCTCCCAGGTAGCACACTGCTAAGAGATATGCGTAATGGAGGCCCCAGGACTACTCCTAATCAAGTTGGATTGTTGTCATTGACTAGGTAAATAGGCCTGTGCAAACTTACAAAGGCAATGCATTGCCTGTATCTTGTCACGTCTTTTAGTGGTCTTTTCTCTTTTTCCTGGGTTTCTA... | pathogenic | 95,179 |
Determine whether the variant at chromosome 5, position 87268711, in gene RASA1 (RAS p21 protein activator 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome'] | GGCAATGCATTGCCTGTATCTTGTCACGTCTTTTAGTGGTCTTTTCTCTTTTTCCTGGGTTTCTATCACAGCCACTTGCCATCCTGAGTGTTAGTTTGATCATCCTTAGCACAGAAAATATTGATCTCAAAGATCAATATCCAATGGTATTTAATGTGGGATCACTCCTGGGAGAATTTAACAATATTGTTAATTTCAAACCATGGGAAGCTCCCTCTACATGAATGCATAGTTTGTATACATTTTAGTGTAAAAGACAAAATAACACCCTTCTCCTTAATTGTATTAAAAATGAGTTTTCAGTTTATTGCTACTTTTGA... | GGCAATGCATTGCCTGTATCTTGTCACGTCTTTTAGTGGTCTTTTCTCTTTTTCCTGGGTTTCTATCACAGCCACTTGCCATCCTGAGTGTTAGTTTGATCATCCTTAGCACAGAAAATATTGATCTCAAAGATCAATATCCAATGGTATTTAATGTGGGATCACTCCTGGGAGAATTTAACAATATTGTTAATTTCAAACCATGGGAAGCTCCCTCTACATGAATGCATAGTTTGTATACATTTTAGTGTAAAAGACAAAATAACACCCTTCTCCTTAATTGTATTAAAAATGAGTTTTCAGTTTATTGCTACTTTTGA... | pathogenic | 95,193 |
Evaluate this variant at chromosome 5, position 87268921, gene RASA1 (RAS p21 protein activator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome', 'Gorham-Stout_disease'] | CTCCCTCTACATGAATGCATAGTTTGTATACATTTTAGTGTAAAAGACAAAATAACACCCTTCTCCTTAATTGTATTAAAAATGAGTTTTCAGTTTATTGCTACTTTTGAAACGATATATAATTATAACTAGCATTCTGGGACATTCTTGACATTTGACTTGTTGAAGGTGCTTGCATTGTGGATCACGTCCTGCAGTCTTTTGCACACAAACCAGGACAAAAGTGCATTGATTAGTGTTTTCTGTGGCACCTCCTCCTCTTCATCAGTATCCAACAGACTTATAATGGCATAGGTAAGTATATGAGACAGTTGATAAAG... | CTCCCTCTACATGAATGCATAGTTTGTATACATTTTAGTGTAAAAGACAAAATAACACCCTTCTCCTTAATTGTATTAAAAATGAGTTTTCAGTTTATTGCTACTTTTGAAACGATATATAATTATAACTAGCATTCTGGGACATTCTTGACATTTGACTTGTTGAAGGTGCTTGCATTGTGGATCACGTCCTGCAGTCTTTTGCACACAAACCAGGACAAAAGTGCATTGATTAGTGTTTTCTGTGGCACCTCCTCCTCTTCATCAGTATCCAACAGACTTATAATGGCATAGGTAAGTATATGAGACAGTTGATAAAG... | pathogenic | 95,210 |
The genetic variant at chromosome 5, position 87331416, affecting gene RASA1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Basal_cell_carcinoma,_susceptibility_to,_1', 'Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome'] | GGAGGTGGGGGTTGCAGTGAGCTGAGATCGTACCAGTGTACTCCAGCCTGGGCGACAGAGTGAGACTCCCGTCTTAAAACAAAACAAAACAAAAACAACTAAAAACCACAAATAAACATATATATTACTTAAAATCATAAGTTGGATATTTCTTATAAAGTAGTAATTGTGTAATGCCTCATGTATCTCTGTGTATCATTTCAATGGTAAGTTCAAAAGATGAAGGAGATTAAAGAAAAACCTTTTTCATCTTGACACTACCTAAGACATAACAGAAATTTAACAAATAACAAGTATATAAAAATAGAGATTTTTAAAAA... | GGAGGTGGGGGTTGCAGTGAGCTGAGATCGTACCAGTGTACTCCAGCCTGGGCGACAGAGTGAGACTCCCGTCTTAAAACAAAACAAAACAAAAACAACTAAAAACCACAAATAAACATATATATTACTTAAAATCATAAGTTGGATATTTCTTATAAAGTAGTAATTGTGTAATGCCTCATGTATCTCTGTGTATCATTTCAATGGTAAGTTCAAAAGATGAAGGAGATTAAAGAAAAACCTTTTTCATCTTGACACTACCTAAGACATAACAGAAATTTAACAAATAACAAGTATATAAAAATAGAGATTTTTAAAAA... | pathogenic | 95,217 |
Chromosome 5, position 87349308, gene RASA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1'] | ACTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATT... | ACTTGTGGAATTATATGATTGAGCTTTATTTAGTATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATT... | pathogenic | 95,239 |
Chromosome 5, position 87349341, gene RASA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | TATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTATAGAGGTAATCTGAATTGTTTTAATCCATAAA... | TATGTATTAATTTTAACATTTCCCAAAACTGTTATGCTTATAAATACAAAGTAAAAATTGACTTGTATTGTGGTTTTAACCATCCTGTCATTGTTTATTCTTACTAAATATTTAAGGCTGAATTAATTTAAATACCGAGCATTTCTTTGGCAAACCACATCTTATAAAGATTTCAGACAAGTTTAAGCTTTAGTATGTAATTTAAAAGTTTCAGTTCTTCAAAAATGTTGACTATTCAATAGTTTCTATATTTGGTGAAATAGATTCTTGTGGTGATAACCCTAATTATAGAGGTAATCTGAATTGTTTTAATCCATAAA... | pathogenic | 95,242 |
Mutation at chromosome 5, position 87362572, within RASA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome'] | TTGATGTTTATAAGAGTGATCAATCCAGTGAATTTTACAATTTCTATATGTTTACTTTCAGTAATTTTTTATACAAAGGCCCTTTAATATTTGCCCATTCACAAATCATATTAAGTAAATTTTGATGTACATACAAAAATTTAGTCTCATTTCTTTTTAGCAAAACAGGATAATAGAAGTAATATGGTTCACTCAGTGATTGAGTTTGAGAAAATTCAAGTATATCATCATCTGAAAAATCACAGTCTGAGGTTTATCAAAATCAATTCTGCCATCATGATAAGAGTCTAGAGTGCTGCTGTTTCTTTGCATTCGTTTTC... | TTGATGTTTATAAGAGTGATCAATCCAGTGAATTTTACAATTTCTATATGTTTACTTTCAGTAATTTTTTATACAAAGGCCCTTTAATATTTGCCCATTCACAAATCATATTAAGTAAATTTTGATGTACATACAAAAATTTAGTCTCATTTCTTTTTAGCAAAACAGGATAATAGAAGTAATATGGTTCACTCAGTGATTGAGTTTGAGAAAATTCAAGTATATCATCATCTGAAAAATCACAGTCTGAGGTTTATCAAAATCAATTCTGCCATCATGATAAGAGTCTAGAGTGCTGCTGTTTCTTTGCATTCGTTTTC... | pathogenic | 95,253 |
Does the chromosome 5 mutation at position 87363330 within gene RASA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCTGCTGTAAGCAATTCATTCTTCTATTTTCTTATTATTTTAGTAATTTTGTAGCATTAACTTGGGAATAATTCTGAGTAATGATGAAATAGTTCCTAGGATGATGAAACAGCATAATGTTTCAAGATAGAGGATTATGAAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTAT... | CCTGCTGTAAGCAATTCATTCTTCTATTTTCTTATTATTTTAGTAATTTTGTAGCATTAACTTGGGAATAATTCTGAGTAATGATGAAATAGTTCCTAGGATGATGAAACAGCATAATGTTTCAAGATAGAGGATTATGAAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTAT... | benign | 95,260 |
Considering the genetic mutation at chromosome 5, position 87363330, impacting RASA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Basal_cell_carcinoma,_susceptibility_to,_1', 'Capillary_malformation-arteriovenous_malformation_1', 'Cardiovascular_phenotype'] | CCTGCTGTAAGCAATTCATTCTTCTATTTTCTTATTATTTTAGTAATTTTGTAGCATTAACTTGGGAATAATTCTGAGTAATGATGAAATAGTTCCTAGGATGATGAAACAGCATAATGTTTCAAGATAGAGGATTATGAAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTAT... | CCTGCTGTAAGCAATTCATTCTTCTATTTTCTTATTATTTTAGTAATTTTGTAGCATTAACTTGGGAATAATTCTGAGTAATGATGAAATAGTTCCTAGGATGATGAAACAGCATAATGTTTCAAGATAGAGGATTATGAAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTAT... | pathogenic | 95,261 |
Clinically, how would you classify the variant at chromosome 5, position 87363469, gene RASA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | AAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTATTCTGGAAAGATCATGATAAAGGCATCCTGATATAATTCTTTTCCTCAGGAGATTTAGCAATTAATGTAAGTTCTGCTATAATGTAACATATGCATTCCTAAAAATCATAGCATTATGCAAAATTAGGCAATCAAAACCA... | AAAATCCCACAGCATAACTTAGATTTATAAGAGGATTGAATGGATCCATGAAGTTTGTAAGATGGACTAAAAGTCATAAAATATGAATCCTTGCAAAATAGTAAGAACTACTCAAAAAGGAAACCAAAAAACTAAAACTGAGTCCAATTGACCTTAATAGTAAAATTGAAGATTCATTTATTCTGGAAAGATCATGATAAAGGCATCCTGATATAATTCTTTTCCTCAGGAGATTTAGCAATTAATGTAAGTTCTGCTATAATGTAACATATGCATTCCTAAAAATCATAGCATTATGCAAAATTAGGCAATCAAAACCA... | pathogenic | 95,265 |
A genetic variant at chromosome 5, position 87374147, affecting gene RASA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAA... | GTGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAA... | benign | 95,271 |
Benign or pathogenic: chromosome 5, position 87374147, gene RASA1 variant? Disease(s) if pathogenic? | benign | GTGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAA... | GTGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAA... | benign | 95,273 |
Evaluate this variant at chromosome 5, position 87374148, gene RASA1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAAA... | TGCTGTTTTTCTTTGCAGGATTGGATGAAAGGTCTGCAGGCATTTTGCAATTTACGGAAAAGTAGTCCAGGGACATCCAATAAACGCCTTCGTCAGGTGAAGCTTAATTTTCTTGGATTTTTAATTGTCACATTTTGCTCTAACACTTTGCTCTTTTTATTTTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAAA... | benign | 95,274 |
Is chromosome 5, position 87374309, gene RASA1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome', 'Cardiovascular_phenotype'] | TTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAAATAACAACACTAAACCAACACAGCAGAAACGGTTCTGTTGGGCACTTAATTTTCCTTCAAAAACTTATTTTGGCCTCTTTCAAAAAAGTAGAACATTGAAAAGATCATCAGATTTATAGCACTAATCCCAATAAACTTTTTTGGGATTTTCATTTTGAAGAA... | TTATTTTTATCTGAACTGTTTTGGACATCATATGGGGTTAAGCCATGCTGCCACTTGCTTCAGTAGCAGGAAAACGTTACTTCTTTATGAAAGAGAATGTTCTTTCTTAGTCCATGCCAACTGTTAAAAACATAAGAAAGATTATTCTTCCACTTTAAATAACAACACTAAACCAACACAGCAGAAACGGTTCTGTTGGGCACTTAATTTTCCTTCAAAAACTTATTTTGGCCTCTTTCAAAAAAGTAGAACATTGAAAAGATCATCAGATTTATAGCACTAATCCCAATAAACTTTTTTGGGATTTTCATTTTGAAGAA... | pathogenic | 95,280 |
Is the genetic mutation found on chromosome 5 at position 87374885, within the gene RASA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | AAGTGTCTCCTGTTCTCTTTGTGCGAATATCTGATAAGCTGAGTGATTAACATACTGTTCTACTGGGAGTGGATAATGGTTGATATTTAGGTGACTAAATAGTCCCTGTAACCCAAAGTCTGGCTCTTCCCCAGGGAAATTTAAGTATACACACAATCGCCATGTCTTCATAACATTGTAACATTTTGTAAGCTATCAAAAATCAGATTGGATTTTTGCTAATAAGAGCAAGTTGTATTTTGTGTGAAACTTGAGCCATTAAAATGACATTTGCAGGTTTAATATAATCATAGCTAACATCTCTCAAGCACTTTTTATGT... | AAGTGTCTCCTGTTCTCTTTGTGCGAATATCTGATAAGCTGAGTGATTAACATACTGTTCTACTGGGAGTGGATAATGGTTGATATTTAGGTGACTAAATAGTCCCTGTAACCCAAAGTCTGGCTCTTCCCCAGGGAAATTTAAGTATACACACAATCGCCATGTCTTCATAACATTGTAACATTTTGTAAGCTATCAAAAATCAGATTGGATTTTTGCTAATAAGAGCAAGTTGTATTTTGTGTGAAACTTGAGCCATTAAAATGACATTTGCAGGTTTAATATAATCATAGCTAACATCTCTCAAGCACTTTTTATGT... | pathogenic | 95,284 |
Mutation at chromosome 5, position 87376524, within RASA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | CTGTTGTTTGTTCACCTTTATTTGTGAAGTGCTATGCCCTTGGTTTTTCCACTTAGTTATTAACATGAATTAGCAAGTCAAAAAACATTTACTAACCCACAAATACAAAACATTTACTAGGGTTTCCAGTACTTATTTGAATGAATTATTAGTTTAGGAGGTTAAAGATGGTAGGAAAAGTGTGTAATCTGCGTGTCTTCTGTATACCAAATAATAAAATATGTTGTGAATCTGGTTTTAGGTCTAGCACACTGTTTTTTTTTTTAAAGCAGAAATAGGGGGTTTATTTGATACTAGAACTAAAGAAATAAGGTAGTTTG... | CTGTTGTTTGTTCACCTTTATTTGTGAAGTGCTATGCCCTTGGTTTTTCCACTTAGTTATTAACATGAATTAGCAAGTCAAAAAACATTTACTAACCCACAAATACAAAACATTTACTAGGGTTTCCAGTACTTATTTGAATGAATTATTAGTTTAGGAGGTTAAAGATGGTAGGAAAAGTGTGTAATCTGCGTGTCTTCTGTATACCAAATAATAAAATATGTTGTGAATCTGGTTTTAGGTCTAGCACACTGTTTTTTTTTTTAAAGCAGAAATAGGGGGTTTATTTGATACTAGAACTAAAGAAATAAGGTAGTTTG... | pathogenic | 95,293 |
Mutation found at chromosome 5 position 87378469, gene RASA1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | ACAGAAAGGGCATGCCACAGATGAATGGTTTCTGCTCAGCTCCCATATACCATTAAAAGGTATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAAGAAGAGTACAGTGAATTTAAAGAGGTATTAAATTATTTATCAGTCTTGTTTTTGTTGGAATTAACAGAAACATTTAACATTTAATAAAAGATCCATTAAGGTAAACATAGTAATTCATAGCTTAGTAGCACAATGATGCCAGAGATTTTAAACCTTGTTTTATACTGTAATTTTGGTAGAAATAAGTAGACTACGAATT... | ACAGAAAGGGCATGCCACAGATGAATGGTTTCTGCTCAGCTCCCATATACCATTAAAAGGTATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAAGAAGAGTACAGTGAATTTAAAGAGGTATTAAATTATTTATCAGTCTTGTTTTTGTTGGAATTAACAGAAACATTTAACATTTAATAAAAGATCCATTAAGGTAAACATAGTAATTCATAGCTTAGTAGCACAATGATGCCAGAGATTTTAAACCTTGTTTTATACTGTAATTTTGGTAGAAATAAGTAGACTACGAATT... | pathogenic | 95,307 |
Variant in gene RASA1, located at chromosome 5 position 87378498: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome', 'RASA1-related_disorder'] | TTCTGCTCAGCTCCCATATACCATTAAAAGGTATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAAGAAGAGTACAGTGAATTTAAAGAGGTATTAAATTATTTATCAGTCTTGTTTTTGTTGGAATTAACAGAAACATTTAACATTTAATAAAAGATCCATTAAGGTAAACATAGTAATTCATAGCTTAGTAGCACAATGATGCCAGAGATTTTAAACCTTGTTTTATACTGTAATTTTGGTAGAAATAAGTAGACTACGAATTCATTCTATTTTAAATAAATTTATTCAATG... | TTCTGCTCAGCTCCCATATACCATTAAAAGGTATTGAACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCCAGAAGAAGAGTACAGTGAATTTAAAGAGGTATTAAATTATTTATCAGTCTTGTTTTTGTTGGAATTAACAGAAACATTTAACATTTAATAAAAGATCCATTAAGGTAAACATAGTAATTCATAGCTTAGTAGCACAATGATGCCAGAGATTTTAAACCTTGTTTTATACTGTAATTTTGGTAGAAATAAGTAGACTACGAATTCATTCTATTTTAAATAAATTTATTCAATG... | pathogenic | 95,309 |
Regarding the variant at chromosome 5 and position 87379745, affecting gene RASA1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | TTCCCAAGCTGCTGGACACAGTGCTTTTAATGGCTTACAAAATAATCCACCCTCCCCCTGGCCCACACACACCACCAAGCACTTTGATTCATTAACAGTTCTTGCTTCTAGGTTCCCCAAATAAATAGTAAAGTTTAGAACTATTTTCCTCCTCATCACAAAATATAGATTTGTCAAGGAATAGATAAAATGGTGGTCCTTATTTTACACTTGAGTTTATCTTTTCTGACAGCATTTGTATTTCATTAAAATTTTACTGAAACTCAGTAGACATATTTTAAGCTAATAAATTAATCTATACTGGGATTTTGTGTTATATC... | TTCCCAAGCTGCTGGACACAGTGCTTTTAATGGCTTACAAAATAATCCACCCTCCCCCTGGCCCACACACACCACCAAGCACTTTGATTCATTAACAGTTCTTGCTTCTAGGTTCCCCAAATAAATAGTAAAGTTTAGAACTATTTTCCTCCTCATCACAAAATATAGATTTGTCAAGGAATAGATAAAATGGTGGTCCTTATTTTACACTTGAGTTTATCTTTTCTGACAGCATTTGTATTTCATTAAAATTTTACTGAAACTCAGTAGACATATTTTAAGCTAATAAATTAATCTATACTGGGATTTTGTGTTATATC... | pathogenic | 95,313 |
Determine whether the variant at chromosome 5, position 87383678, in gene RASA1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATATTTAAGAACTACAGATTCTGTTTTTCTTGGCATTAGTGGTGATTGGGAGGAATAGAAAAGAATTACAAGCATAATATTCCAGCACAGTTACGTGTGAGATGTAAATTAAAACTGTTCTATAAATTTGTAAGTTTCAAACAAGTATAACTGTTAAGCAAACACAGCAGGAAATTGTAAACTGTTTCGTGCAAGAGGGTGTTTTAGGGCATTTTTGCCAAGGTTAGGTTTCAGGCTCATAGACCTACTATGTATAATTATCACAATATTTTCAAGTAAAGTTTACAAGATTCTTTAAATTTGGGAAGTCCAAAATTAAA... | ATATTTAAGAACTACAGATTCTGTTTTTCTTGGCATTAGTGGTGATTGGGAGGAATAGAAAAGAATTACAAGCATAATATTCCAGCACAGTTACGTGTGAGATGTAAATTAAAACTGTTCTATAAATTTGTAAGTTTCAAACAAGTATAACTGTTAAGCAAACACAGCAGGAAATTGTAAACTGTTTCGTGCAAGAGGGTGTTTTAGGGCATTTTTGCCAAGGTTAGGTTTCAGGCTCATAGACCTACTATGTATAATTATCACAATATTTTCAAGTAAAGTTTACAAGATTCTTTAAATTTGGGAAGTCCAAAATTAAA... | benign | 95,321 |
Variant on chromosome 5, at position 87383716, affecting RASA1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_syndrome'] | GTGGTGATTGGGAGGAATAGAAAAGAATTACAAGCATAATATTCCAGCACAGTTACGTGTGAGATGTAAATTAAAACTGTTCTATAAATTTGTAAGTTTCAAACAAGTATAACTGTTAAGCAAACACAGCAGGAAATTGTAAACTGTTTCGTGCAAGAGGGTGTTTTAGGGCATTTTTGCCAAGGTTAGGTTTCAGGCTCATAGACCTACTATGTATAATTATCACAATATTTTCAAGTAAAGTTTACAAGATTCTTTAAATTTGGGAAGTCCAAAATTAAAGACTTAATTGTTATTTTTTTGAGACAGGGTCTTGCTCT... | GTGGTGATTGGGAGGAATAGAAAAGAATTACAAGCATAATATTCCAGCACAGTTACGTGTGAGATGTAAATTAAAACTGTTCTATAAATTTGTAAGTTTCAAACAAGTATAACTGTTAAGCAAACACAGCAGGAAATTGTAAACTGTTTCGTGCAAGAGGGTGTTTTAGGGCATTTTTGCCAAGGTTAGGTTTCAGGCTCATAGACCTACTATGTATAATTATCACAATATTTTCAAGTAAAGTTTACAAGATTCTTTAAATTTGGGAAGTCCAAAATTAAAGACTTAATTGTTATTTTTTTGAGACAGGGTCTTGCTCT... | pathogenic | 95,324 |
A genetic variant at chromosome 5, position 87386864, affecting gene RASA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Capillary_malformation-arteriovenous_malformation_1', 'Capillary_malformation-arteriovenous_malformation_syndrome'] | TCAAAATAAAGCAGAGGTCCTAGACTTTATCTTGCTTCTTGAGCTTTAAGCGAATTATTTGGACTGCAAATAATGTTGGGAGCAGGGAATTGCTCAGATTGCTAACCTGAGTAGGTTGAAATTAGCTTTGTGAACTGTCATAAAAGATGTGAGGAGTGACAATCTTTTTTAGTGATAAAGGTAAAGCTTTGAGGTCCTTTGAAATAGTATCAACCGTTGGAAACTGCTGAGTTTTGTAGTACCCTTTTCGCAAGCCTAGAAGCACTGATAAGCATATTCACTTTTTCTCTTTTAATTCAAGTTCTTTTGAATTTTATGGA... | TCAAAATAAAGCAGAGGTCCTAGACTTTATCTTGCTTCTTGAGCTTTAAGCGAATTATTTGGACTGCAAATAATGTTGGGAGCAGGGAATTGCTCAGATTGCTAACCTGAGTAGGTTGAAATTAGCTTTGTGAACTGTCATAAAAGATGTGAGGAGTGACAATCTTTTTTAGTGATAAAGGTAAAGCTTTGAGGTCCTTTGAAATAGTATCAACCGTTGGAAACTGCTGAGTTTTGTAGTACCCTTTTCGCAAGCCTAGAAGCACTGATAAGCATATTCACTTTTTCTCTTTTAATTCAAGTTCTTTTGAATTTTATGGA... | pathogenic | 95,335 |
Considering the genetic mutation at chromosome 5, position 87389533, impacting RASA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GATTGAACAGATTTTCAGGTACTGAGTCAGTTTTAAACTAAACTTATTAGTAATTCAGTTCATATACAGAGAAACCAGGAAGGTGCATGTACATGTGAATAGAGCCAGGTGTAAGGCATGGCATTAGGGAGTGCTAGGATTGGAGATTGAGGTGTCCATGTTCTGTCTTAATGTATTCAGATTCAGTTAAAAAGACCACCACAATTTGTGGCAAACAAATCAGGAATGCCGTTGAGTCACTAGTTTGCAACCTCAGGTATAAAAACTAGTGTATGAAAAATTATGGCATAGCTCCATATTTATAGTGAAATTTATAGTGA... | GATTGAACAGATTTTCAGGTACTGAGTCAGTTTTAAACTAAACTTATTAGTAATTCAGTTCATATACAGAGAAACCAGGAAGGTGCATGTACATGTGAATAGAGCCAGGTGTAAGGCATGGCATTAGGGAGTGCTAGGATTGGAGATTGAGGTGTCCATGTTCTGTCTTAATGTATTCAGATTCAGTTAAAAAGACCACCACAATTTGTGGCAAACAAATCAGGAATGCCGTTGAGTCACTAGTTTGCAACCTCAGGTATAAAAACTAGTGTATGAAAAATTATGGCATAGCTCCATATTTATAGTGAAATTTATAGTGA... | benign | 95,343 |
Variant in gene MEF2C (myocyte enhancer factor 2C), located at chromosome 5 position 88728629: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGGGGTAAGGGAAGTGATTAAGTGCAATTAAAACTCACAGAGAAAACTAAGAGTCAAATTAAGCACAACGAAATTAAGTGTTGAAAGGAACCGGGAGCTGAACAAAATGCTTAACCTTTGGCTGTTGTAATTCAGTTCCTTTCTGTCTAAGGCTGTCCCTCCTTTCTCATTTTCTGAAACCTCTATTAGAGGCAGCAGAGAATTAGATTCTTCCTTGTAATAGAAAAGAGTTTTAAAATTGTAGTACAGCTAAAATATGTAAATAAATATGTGTTTATATGTAAAAATATAAATTATCAGGTACTATTGAAAACAAAAAA... | AGGGGTAAGGGAAGTGATTAAGTGCAATTAAAACTCACAGAGAAAACTAAGAGTCAAATTAAGCACAACGAAATTAAGTGTTGAAAGGAACCGGGAGCTGAACAAAATGCTTAACCTTTGGCTGTTGTAATTCAGTTCCTTTCTGTCTAAGGCTGTCCCTCCTTTCTCATTTTCTGAAACCTCTATTAGAGGCAGCAGAGAATTAGATTCTTCCTTGTAATAGAAAAGAGTTTTAAAATTGTAGTACAGCTAAAATATGTAAATAAATATGTGTTTATATGTAAAAATATAAATTATCAGGTACTATTGAAAACAAAAAA... | benign | 95,353 |
Regarding the variant at chromosome 5 and position 88730211, affecting gene MEF2C (myocyte enhancer factor 2C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_20'] | TAAGCTTATACTATAAATGCCTTCTTATGTCCCAAATGAACTGTGTGAAAACTAAATAAAAATTATATCACTGATAGAAGTGGAAACAAATGTAGCCTAAAACAATAAGGAAAGAATTTACCTCATTATTACAGAGCTCGCTGTCCTCTTAAAAAACAGGTATATAAGATTTAAGCTACTTGAAAAGTATTGATCTGAAAATTACACTTGGATTTCAATAAAGTAGAGTTTTATACCCGTTAATGGGATATTGAAGCACATATTTAGAGACTGTCATTTGTTTTTCAAAATACATTCTAAAATTATATTATAAAAAATAA... | TAAGCTTATACTATAAATGCCTTCTTATGTCCCAAATGAACTGTGTGAAAACTAAATAAAAATTATATCACTGATAGAAGTGGAAACAAATGTAGCCTAAAACAATAAGGAAAGAATTTACCTCATTATTACAGAGCTCGCTGTCCTCTTAAAAAACAGGTATATAAGATTTAAGCTACTTGAAAAGTATTGATCTGAAAATTACACTTGGATTTCAATAAAGTAGAGTTTTATACCCGTTAATGGGATATTGAAGCACATATTTAGAGACTGTCATTTGTTTTTCAAAATACATTCTAAAATTATATTATAAAAAATAA... | pathogenic | 95,358 |
Is the variant located on chromosome 5 at position 88731909, gene MEF2C (myocyte enhancer factor 2C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TAACTCATTACAGTAAAGAGATAAAAGATCCACCACATAAACTTAAAATCATGAGACTTTAATTCCCAGAAGAAGAAATATTTTAGTTTTATGTAATGAAAGAATATTTTTGTTTGAATTTTACTATAAATTGTCCTAAAATATTGAAAACAGAAAAAATATTGAAACAAAAAAAAAAACCTGACATTCTTTTCACCTGTGAGTGATGCCAGAAATTAATGGTATTTAAACATAATCAATGTTGACATACTGTGGTAACTTCCAATATCTTCCAATTTTATCAAAGCTACCACCTCTACCTAAAAGTAGCTTTGCACATG... | TAACTCATTACAGTAAAGAGATAAAAGATCCACCACATAAACTTAAAATCATGAGACTTTAATTCCCAGAAGAAGAAATATTTTAGTTTTATGTAATGAAAGAATATTTTTGTTTGAATTTTACTATAAATTGTCCTAAAATATTGAAAACAGAAAAAATATTGAAACAAAAAAAAAAACCTGACATTCTTTTCACCTGTGAGTGATGCCAGAAATTAATGGTATTTAAACATAATCAATGTTGACATACTGTGGTAACTTCCAATATCTTCCAATTTTATCAAAGCTACCACCTCTACCTAAAAGTAGCTTTGCACATG... | benign | 95,370 |
Clinically, how would you classify the variant at chromosome 5, position 88761182, gene MEF2C (myocyte enhancer factor 2C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_dominant_20'] | TGCTCCACACCAATGTATTATATAGCAAGATAAACTCAGATCATAAGAACTAAAAATTGGCCCAAATGGCGTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCCCAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATTCCATCTCTACTAAAAATACAAAATTAGCCGGGAGTGGTGGCACATGCTTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCGGTGAGTGGAGATCGTGCCATTGCACTCCAG... | TGCTCCACACCAATGTATTATATAGCAAGATAAACTCAGATCATAAGAACTAAAAATTGGCCCAAATGGCGTGGCGCAGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCCCAGGCGGGTGGATCACCTAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAATTCCATCTCTACTAAAAATACAAAATTAGCCGGGAGTGGTGGCACATGCTTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCGGTGAGTGGAGATCGTGCCATTGCACTCCAG... | pathogenic | 95,381 |
Chromosome 5, position 88823734, gene MEF2C (myocyte enhancer factor 2C): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Intellectual_disability,_autosomal_dominant_20', 'MEF2C-related_disorder'] | GCTAAACTTTTTTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTG... | GCTAAACTTTTTTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTG... | pathogenic | 95,397 |
Variant at chromosome position 88823743, chromosome 5, gene MEF2C (myocyte enhancer factor 2C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Intellectual_disability,_autosomal_dominant_20', 'Neurodevelopmental_disorder'] | TTTTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAAC... | TTTTTTTTTAAAAATTGAACTCACTGAGATAGAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAAC... | pathogenic | 95,398 |
Variant chromosome 5, position 88823774, gene MEF2C (myocyte enhancer factor 2C): benign or pathogenic? Disease(s)? | pathogenic | GAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACATCACATGTATTCCATATTATATACAACTAT... | GAGAGTAGACTGATGGTTACTATAGGCTGGGAAGGGTAGCTGGGCATGGAGTGGGGAGGGGATAAAGTGGGGATGTTTAATGGATACAAAAATAGGTAAAATGAATAAGATCTAGAATTTGGTAGTACATAGGGTGACTACAGTTAACAAGAATTTATCATATATTTGAAAGTAATTAAAAGAGTAGAATTGGAATGTTCCTAATACAAAGAAATGATAAATGCTTGAGGTAGGTATACCTCAATTACCCTGATTTTGATCACTGCACATTGTATACCTGTATCAAAACATCACATGTATTCCATATTATATACAACTAT... | pathogenic | 95,402 |
Benign or pathogenic: chromosome 5, position 88883253, gene MEF2C (myocyte enhancer factor 2C) variant? Disease(s) if pathogenic? | benign | AGTTAGTAGCAGAATACATAGCTAAATGTACTTTTCTACAAATAGAATGAGATATTTGATTTAAAATATTTCTTTCCTCTTGAAATAGGATGTTAGATAGGGACATCTCATTTTACCTATCAAGTTCTGAGTCTTGCTTTAGAACTACTTCTTTTAACTTAATTTCATGCATACACTGGAAGACAATAATATGGCTTTTTAACTGCATTATCTTTAGTTGAAACTGATGGAGAAACAAAAATACTGCTTATACCATATTGGTACATGCTGAATGTTTTTAAAGACTAGCCAAAACTGACATTTTTTAAAATTAAATAAGA... | AGTTAGTAGCAGAATACATAGCTAAATGTACTTTTCTACAAATAGAATGAGATATTTGATTTAAAATATTTCTTTCCTCTTGAAATAGGATGTTAGATAGGGACATCTCATTTTACCTATCAAGTTCTGAGTCTTGCTTTAGAACTACTTCTTTTAACTTAATTTCATGCATACACTGGAAGACAATAATATGGCTTTTTAACTGCATTATCTTTAGTTGAAACTGATGGAGAAACAAAAATACTGCTTATACCATATTGGTACATGCTGAATGTTTTTAAAGACTAGCCAAAACTGACATTTTTTAAAATTAAATAAGA... | benign | 95,406 |
Clinical classification of chromosome 5, position 90625152, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | AGTTCCTTGTATAATAAACATGACACAATACAATTAAAATAAAGATGAATACTTTTCTGATCTGATACATTTCATGATTAATATAAAAATGTTTTCCTTGCTGCTTGTGTATACAATGCTTACATGAAATACAAGTAACATTTTAGATATGTGGGAAAAATAAATCATAGGATAGAATAATAATGTTAATTCTATAAAATTCATGGAACTTTTATGATAAATGTTTTCAAAGACAGGAAATTTTAAAATACCCATGGATTACTTAGGTTTACATAAAATTATTTAATATGTTGTCTTTCTCTATTTTATTTTATTTTATT... | AGTTCCTTGTATAATAAACATGACACAATACAATTAAAATAAAGATGAATACTTTTCTGATCTGATACATTTCATGATTAATATAAAAATGTTTTCCTTGCTGCTTGTGTATACAATGCTTACATGAAATACAAGTAACATTTTAGATATGTGGGAAAAATAAATCATAGGATAGAATAATAATGTTAATTCTATAAAATTCATGGAACTTTTATGATAAATGTTTTCAAAGACAGGAAATTTTAAAATACCCATGGATTACTTAGGTTTACATAAAATTATTTAATATGTTGTCTTTCTCTATTTTATTTTATTTTATT... | pathogenic | 95,423 |
A mutation at chromosome position 90627490 on chromosome 5 in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Febrile_seizures,_familial,_4', 'Retinal_dystrophy', 'Usher_syndrome_type_2C'] | GCAACCATACATCATACAAATATTTAAGCATTTTGTATACCCTGGTAATCAATTTTTGTTAGTGCTTTCAATTTTGAGCAAGAACAATACTAACCTAGAATAAATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCC... | GCAACCATACATCATACAAATATTTAAGCATTTTGTATACCCTGGTAATCAATTTTTGTTAGTGCTTTCAATTTTGAGCAAGAACAATACTAACCTAGAATAAATATTTTACCATAAAAGCAAAGAAAAATTCTACTGCAGTTGGTATTCTTTTGTTTTTATTTTTTTGTTGTTGTTTAGAAGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCC... | pathogenic | 95,427 |
Evaluate the clinical significance of the mutation at chromosome 5, position 90627712 in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['ADGRV1-related_disorder'] | GATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCTTGTTTGGATATTTTTAATGTTCACATTTATGGGAAGATTTTTATTATTTTTATATTTCACATTGGAACTAGCAAGGATAGAGAT... | GATCTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCTTGTTTGGATATTTTTAATGTTCACATTTATGGGAAGATTTTTATTATTTTTATATTTCACATTGGAACTAGCAAGGATAGAGAT... | pathogenic | 95,432 |
A genetic variant at chromosome 5, position 90627715, affecting gene ADGRV1 (adhesion G protein-coupled receptor V1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Rare_genetic_deafness'] | CTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCTTGTTTGGATATTTTTAATGTTCACATTTATGGGAAGATTTTTATTATTTTTATATTTCACATTGGAACTAGCAAGGATAGAGATACA... | CTCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCTTGTTTGGATATTTTTAATGTTCACATTTATGGGAAGATTTTTATTATTTTTATATTTCACATTGGAACTAGCAAGGATAGAGATACA... | pathogenic | 95,433 |
The chromosome 5, position 90642651 genetic variant in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_2C'] | ATCTTCCATAAGTGGGAACTGCCGAACCTCTTGCTAGCATTTGTCAATAGCAAAGAATCCAGGGTGCAGAGTTCCCATAAAACGCACATTACTAGCTCTTGGGAAAAAAGGAAGCCTTTCTTTAGCTTTATTTTTCCCTTGCCATTCTAAGTTTCTCACAGTATTAGTGAGATTTTAGCAAATGGTGCCCTGCCTCCTTTTTCCCCTTCCCACACTTCTTTCTGTGTTGACAGGGTAGAAACTGAAAGGTTTGTCGTGTATTTTGGGTAAGTGTACAAAATAATACCTTGTTTTTGGTGATTCAGTATTTTGTTTTGCAA... | ATCTTCCATAAGTGGGAACTGCCGAACCTCTTGCTAGCATTTGTCAATAGCAAAGAATCCAGGGTGCAGAGTTCCCATAAAACGCACATTACTAGCTCTTGGGAAAAAAGGAAGCCTTTCTTTAGCTTTATTTTTCCCTTGCCATTCTAAGTTTCTCACAGTATTAGTGAGATTTTAGCAAATGGTGCCCTGCCTCCTTTTTCCCCTTCCCACACTTCTTTCTGTGTTGACAGGGTAGAAACTGAAAGGTTTGTCGTGTATTTTGGGTAAGTGTACAAAATAATACCTTGTTTTTGGTGATTCAGTATTTTGTTTTGCAA... | pathogenic | 95,451 |
Assess the variant on chromosome 5, position 90643858, impacting ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | TTCTTAAGAGCCTGCTGGCTTTTAAACTCTCAGAACATTGCAGTCCAAGTCCCTTTGATCATTCTAATTATGCTTTGAACGTTAAAACCAGAAATTTAAAAAACATGTTGTTTTAATATGTTCTTTTGGAGATACGTAGGAATTGGTATAACATGTCATGCATCTCAGATCTATTCTATTCTTTTTTTTCTTATATTCCCTACATTTTCTTTTATACTAAAAGACAAAAAAGCACAGGTTTAAAATTAAGGAGAATAGAAGGCATTTGAAACCACAACATATTCCTAAAATGTAATCACAATTGTGTTTATTTTTTATCA... | TTCTTAAGAGCCTGCTGGCTTTTAAACTCTCAGAACATTGCAGTCCAAGTCCCTTTGATCATTCTAATTATGCTTTGAACGTTAAAACCAGAAATTTAAAAAACATGTTGTTTTAATATGTTCTTTTGGAGATACGTAGGAATTGGTATAACATGTCATGCATCTCAGATCTATTCTATTCTTTTTTTTCTTATATTCCCTACATTTTCTTTTATACTAAAAGACAAAAAAGCACAGGTTTAAAATTAAGGAGAATAGAAGGCATTTGAAACCACAACATATTCCTAAAATGTAATCACAATTGTGTTTATTTTTTATCA... | pathogenic | 95,460 |
Variant chromosome 5, position 90651672, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? Disease(s)? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome', 'Usher_syndrome_type_2C'] | GACTACAGGCTGGCAACACCACACCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTCAAGCAATTCGCCCGCCTGGGCCCCCCAGGGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTAGCCAGAAATTGACGCTTGAAAAAGAGGTTTAGTTAGTTTGTGAAATATGTCATTGGGAAAATATATTTATTAATATTTGATTTTGAGAGAGAGAGAGAGAGAGGGAGAACACAAGATGTGATTGGGTTACTGGCCTGAGGTATGTGTGCTACCTCGTA... | GACTACAGGCTGGCAACACCACACCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTCAAGCAATTCGCCCGCCTGGGCCCCCCAGGGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTAGCCAGAAATTGACGCTTGAAAAAGAGGTTTAGTTAGTTTGTGAAATATGTCATTGGGAAAATATATTTATTAATATTTGATTTTGAGAGAGAGAGAGAGAGAGGGAGAACACAAGATGTGATTGGGTTACTGGCCTGAGGTATGTGTGCTACCTCGTA... | pathogenic | 95,473 |
Considering the variant on chromosome 5, location 90653300, involving gene ADGRV1 (adhesion G protein-coupled receptor V1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TGTTTTTAATTTCTAATTAAGCTATTGAAGGTATATTCCTTTTGTGAAGAAAAGTGTGTTTTTCAATAAAATAGTTCATTTGTAACTAAAAAAAATGGGAACTATTTCATCTTGAAATTATGTAGGCATCTCTCTTTCTCTCTCTCTTTGTATGTATGTTTGTACTTATGTGTGTATACATAAACATCTTTGGAAATATGGAGCAGTATTTTGCATTTATTATATGACCTTCAGTGAGGAAATTCTTGCTGAAATTTTCAACTTAATTGTAAACTTTCTTAATTTAAAAGTATAAATTTTACAGCAAGTTAGCTACTTCT... | TGTTTTTAATTTCTAATTAAGCTATTGAAGGTATATTCCTTTTGTGAAGAAAAGTGTGTTTTTCAATAAAATAGTTCATTTGTAACTAAAAAAAATGGGAACTATTTCATCTTGAAATTATGTAGGCATCTCTCTTTCTCTCTCTCTTTGTATGTATGTTTGTACTTATGTGTGTATACATAAACATCTTTGGAAATATGGAGCAGTATTTTGCATTTATTATATGACCTTCAGTGAGGAAATTCTTGCTGAAATTTTCAACTTAATTGTAAACTTTCTTAATTTAAAAGTATAAATTTTACAGCAAGTTAGCTACTTCT... | pathogenic | 95,477 |
Does the variant impacting ADGRV1 (adhesion G protein-coupled receptor V1) on chromosome 5, position 90653476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | TACATAAACATCTTTGGAAATATGGAGCAGTATTTTGCATTTATTATATGACCTTCAGTGAGGAAATTCTTGCTGAAATTTTCAACTTAATTGTAAACTTTCTTAATTTAAAAGTATAAATTTTACAGCAAGTTAGCTACTTCTTTGTTATTTTGTCTTTTCCACTTTTAATTTAGGTGATACAGTAGTATATCAATATGGAGTAGCTACAGTAATAATTGAAGCTAATGATGACCCAAATGGCATTTTTTCTCTGGAGCCCATAGACAAAGCAGTGGAAGAAGGAAAGACTAATGCATTTTGGTAAGCATATGTAGATA... | TACATAAACATCTTTGGAAATATGGAGCAGTATTTTGCATTTATTATATGACCTTCAGTGAGGAAATTCTTGCTGAAATTTTCAACTTAATTGTAAACTTTCTTAATTTAAAAGTATAAATTTTACAGCAAGTTAGCTACTTCTTTGTTATTTTGTCTTTTCCACTTTTAATTTAGGTGATACAGTAGTATATCAATATGGAGTAGCTACAGTAATAATTGAAGCTAATGATGACCCAAATGGCATTTTTTCTCTGGAGCCCATAGACAAAGCAGTGGAAGAAGGAAAGACTAATGCATTTTGGTAAGCATATGTAGATA... | pathogenic | 95,482 |
Clinically, how would you classify the variant at chromosome 5, position 90653943, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | TTATCTTCAAAAAAAAAAATCTTTTAGCTAGTAAGCAGAAATTATTCTCCCCACCCCCCTCGTTCAAACTTCAATCCTTTGTGAGACTGAGAAACTTGAATTATTCAAGATCTTCAGGAACTCTTCTCTCAGATGATATGTGACTACCCCCACCCTGTACTTTGCTTTTGGAAAACTTTTTCCAACTGTCATTTAGTATTTTTTGATGGAGCTTAGAATTTATCTTTCAGTTTGGATTTTGAAGACAAGACTTTTATGACTGTTTCTCTTTTATTAAAGTTCTACCTTATTCTTCTCTTCCCATGAAATTCTTCATAGTT... | TTATCTTCAAAAAAAAAAATCTTTTAGCTAGTAAGCAGAAATTATTCTCCCCACCCCCCTCGTTCAAACTTCAATCCTTTGTGAGACTGAGAAACTTGAATTATTCAAGATCTTCAGGAACTCTTCTCTCAGATGATATGTGACTACCCCCACCCTGTACTTTGCTTTTGGAAAACTTTTTCCAACTGTCATTTAGTATTTTTTGATGGAGCTTAGAATTTATCTTTCAGTTTGGATTTTGAAGACAAGACTTTTATGACTGTTTCTCTTTTATTAAAGTTCTACCTTATTCTTCTCTTCCCATGAAATTCTTCATAGTT... | pathogenic | 95,493 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 90681430, gene ADGRV1 (adhesion G protein-coupled receptor V1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Rare_genetic_deafness'] | GCTATAATTCTACTATTTAAAATGATCCATTTCTTATGGAAGAATGCATGTTATTGGGTGAATATTACTGCATTTTCCTCTTTGCTTGATATGTTTTAAGACCTCTCAATTTTCTCATTGTGTCAATGTGTGTTGTGTGGGTTGTGTCTCTGTGTCTCCTTGTGAAGTAGCTGAACTCTTTAGGGTTGATGGAAGTGGTAGTGGTGATGGGGACATGGAATTCTTCCTTCCAACTATTCACAAACGTGGTAAGCAGTTTTTCCAAGGTCCTTTACTATTATAGGTTTTTATTTTAACTTCTCATTTTAGAGACAATACTA... | GCTATAATTCTACTATTTAAAATGATCCATTTCTTATGGAAGAATGCATGTTATTGGGTGAATATTACTGCATTTTCCTCTTTGCTTGATATGTTTTAAGACCTCTCAATTTTCTCATTGTGTCAATGTGTGTTGTGTGGGTTGTGTCTCTGTGTCTCCTTGTGAAGTAGCTGAACTCTTTAGGGTTGATGGAAGTGGTAGTGGTGATGGGGACATGGAATTCTTCCTTCCAACTATTCACAAACGTGGTAAGCAGTTTTTCCAAGGTCCTTTACTATTATAGGTTTTTATTTTAACTTCTCATTTTAGAGACAATACTA... | pathogenic | 95,512 |
Evaluate the clinical significance of the mutation at chromosome 5, position 90683697 in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Rare_genetic_deafness'] | TCATTGTTTAATTCTGAAGATCCTTGACCCTTTAAGGAACATAATGGAGCTGTACTACAAGTATTTATCTTACATAGATTTTTGTGTTTGTTCAGATAGGCTGTGGTAACAAACATCTCTAAAATATCAATGGCTAGTACAACAAAGAATTGCCTTCCTCCCTCCCTCCCTCCCTCACTCCGTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAG... | TCATTGTTTAATTCTGAAGATCCTTGACCCTTTAAGGAACATAATGGAGCTGTACTACAAGTATTTATCTTACATAGATTTTTGTGTTTGTTCAGATAGGCTGTGGTAACAAACATCTCTAAAATATCAATGGCTAGTACAACAAAGAATTGCCTTCCTCCCTCCCTCCCTCCCTCACTCCGTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAG... | pathogenic | 95,514 |
Chromosome 5, position 90683859, gene ADGRV1 (adhesion G protein-coupled receptor V1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Usher_syndrome'] | TCCCTCCCTCCCTCACTCCGTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCCGCCTTGGCCTCTCAAAGT... | TCCCTCCCTCCCTCACTCCGTCCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCCGCCTTGGCCTCTCAAAGT... | pathogenic | 95,520 |
Regarding the variant found on chromosome 5 at position 90683885 in gene ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | CCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCCGCCTTGGCCTCTCAAAGTGCTGGAAAAGATTTGTTTTTCATTCG... | CCTCCCTTCCTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTTCGAGACGGAGTTTCGCTCTTGTTGCCCAGTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGTCTGGTCTCAAACTCCCAACCTCAGGTGATCCACCCGCCTTGGCCTCTCAAAGTGCTGGAAAAGATTTGTTTTTCATTCG... | pathogenic | 95,523 |
Assess the variant on chromosome 5, position 90684163, impacting ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | CTTGGCCTCTCAAAGTGCTGGAAAAGATTTGTTTTTCATTCGTAGTATGTATATGTCCAACTTAAGTTAGCAAGGGGCTCTGATTATTAGTCACTTTAGGCACCAAGGCTATATCTCAGCAGGTGCTTTTATCTTCTTGGCGGAGGGAAATGTGGATGTGAAGAACAGCATACCAGCTCTTATAGCTTCTTTCTGGAAGTGATTTACATCATTTCTACTTAACTTCCTTGATCAAAGCAGGTCTCCTGGCTGTGCCTAATGTCAGTGGGTGAAGTGCAATCCTATCCTGTCTCTCTCCCATAAGGAAAGAAAATCTAAAA... | CTTGGCCTCTCAAAGTGCTGGAAAAGATTTGTTTTTCATTCGTAGTATGTATATGTCCAACTTAAGTTAGCAAGGGGCTCTGATTATTAGTCACTTTAGGCACCAAGGCTATATCTCAGCAGGTGCTTTTATCTTCTTGGCGGAGGGAAATGTGGATGTGAAGAACAGCATACCAGCTCTTATAGCTTCTTTCTGGAAGTGATTTACATCATTTCTACTTAACTTCCTTGATCAAAGCAGGTCTCCTGGCTGTGCCTAATGTCAGTGGGTGAAGTGCAATCCTATCCTGTCTCTCTCCCATAAGGAAAGAAAATCTAAAA... | pathogenic | 95,529 |
Is the chromosome 5, position 90684214 variant in ADGRV1 (adhesion G protein-coupled receptor V1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TATGTCCAACTTAAGTTAGCAAGGGGCTCTGATTATTAGTCACTTTAGGCACCAAGGCTATATCTCAGCAGGTGCTTTTATCTTCTTGGCGGAGGGAAATGTGGATGTGAAGAACAGCATACCAGCTCTTATAGCTTCTTTCTGGAAGTGATTTACATCATTTCTACTTAACTTCCTTGATCAAAGCAGGTCTCCTGGCTGTGCCTAATGTCAGTGGGTGAAGTGCAATCCTATCCTGTCTCTCTCCCATAAGGAAAGAAAATCTAAAACATGGGTGAACTGGCAATAACAATAACTCTATATGATGTGTGTGTTTGTGT... | TATGTCCAACTTAAGTTAGCAAGGGGCTCTGATTATTAGTCACTTTAGGCACCAAGGCTATATCTCAGCAGGTGCTTTTATCTTCTTGGCGGAGGGAAATGTGGATGTGAAGAACAGCATACCAGCTCTTATAGCTTCTTTCTGGAAGTGATTTACATCATTTCTACTTAACTTCCTTGATCAAAGCAGGTCTCCTGGCTGTGCCTAATGTCAGTGGGTGAAGTGCAATCCTATCCTGTCTCTCTCCCATAAGGAAAGAAAATCTAAAACATGGGTGAACTGGCAATAACAATAACTCTATATGATGTGTGTGTTTGTGT... | benign | 95,530 |
Regarding the variant at chromosome 5 and position 90690876, affecting gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | AAAATGGGCAGCTACATGCTTTCAGTGCTTGGCAACAGTCTTGTCTCTGGATCCCTTTATCTTCTTGCTTATTTATTTGTGAAGAGCAAGGAAGAGGCAACAGTTAGTATTAACTATTTTATATATAAGAAAATGACTTCATTGCCAGATGTATATATAAGAAGACTGCCTACTTTGATAGTGCCGTCCCAGCATCCAGAGGGAGATTTGCCTGAGAACTATTCAATTCGAATCTTTCTAGTGTGCTTTCAGAGGAACAGGAATGTGAATGGATGGGATACTGTGCTTGATTTAAAAAAATAAATCATCTGGCCATAATA... | AAAATGGGCAGCTACATGCTTTCAGTGCTTGGCAACAGTCTTGTCTCTGGATCCCTTTATCTTCTTGCTTATTTATTTGTGAAGAGCAAGGAAGAGGCAACAGTTAGTATTAACTATTTTATATATAAGAAAATGACTTCATTGCCAGATGTATATATAAGAAGACTGCCTACTTTGATAGTGCCGTCCCAGCATCCAGAGGGAGATTTGCCTGAGAACTATTCAATTCGAATCTTTCTAGTGTGCTTTCAGAGGAACAGGAATGTGAATGGATGGGATACTGTGCTTGATTTAAAAAAATAAATCATCTGGCCATAATA... | pathogenic | 95,542 |
Evaluate if the mutation on chromosome 5 at position 90706403 in ADGRV1 (adhesion G protein-coupled receptor V1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GACAGCGGGATTGATTTCTTTCTGTATGACATAGGGGTCGTTGAATACAACATTGTTTGTGCATTTGTTGGATGACAACATTCCTGAGGAGAAAGAAGTATACCAAGTCATTCTGTATGATGTCAGGACACAAGGTAATTCAGAATTTAATTTTAATTTTTTTTGGTATATTCTTTTCGTAAAAGAAAGAAAATTGTTATCTCTGTATTTAACAATTAGATGCATACCAATTTTTAAAATGTTACTTTATTATGTGTCCCCTAGAAATGTTAGATCAAAAAAAATTAGCACCATATGGGAATACTTATCTTTATAGACTA... | GACAGCGGGATTGATTTCTTTCTGTATGACATAGGGGTCGTTGAATACAACATTGTTTGTGCATTTGTTGGATGACAACATTCCTGAGGAGAAAGAAGTATACCAAGTCATTCTGTATGATGTCAGGACACAAGGTAATTCAGAATTTAATTTTAATTTTTTTTGGTATATTCTTTTCGTAAAAGAAAGAAAATTGTTATCTCTGTATTTAACAATTAGATGCATACCAATTTTTAAAATGTTACTTTATTATGTGTCCCCTAGAAATGTTAGATCAAAAAAAATTAGCACCATATGGGAATACTTATCTTTATAGACTA... | benign | 95,582 |
Evaluate this variant at chromosome 5, position 90706404, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ACAGCGGGATTGATTTCTTTCTGTATGACATAGGGGTCGTTGAATACAACATTGTTTGTGCATTTGTTGGATGACAACATTCCTGAGGAGAAAGAAGTATACCAAGTCATTCTGTATGATGTCAGGACACAAGGTAATTCAGAATTTAATTTTAATTTTTTTTGGTATATTCTTTTCGTAAAAGAAAGAAAATTGTTATCTCTGTATTTAACAATTAGATGCATACCAATTTTTAAAATGTTACTTTATTATGTGTCCCCTAGAAATGTTAGATCAAAAAAAATTAGCACCATATGGGAATACTTATCTTTATAGACTAG... | ACAGCGGGATTGATTTCTTTCTGTATGACATAGGGGTCGTTGAATACAACATTGTTTGTGCATTTGTTGGATGACAACATTCCTGAGGAGAAAGAAGTATACCAAGTCATTCTGTATGATGTCAGGACACAAGGTAATTCAGAATTTAATTTTAATTTTTTTTGGTATATTCTTTTCGTAAAAGAAAGAAAATTGTTATCTCTGTATTTAACAATTAGATGCATACCAATTTTTAAAATGTTACTTTATTATGTGTCCCCTAGAAATGTTAGATCAAAAAAAATTAGCACCATATGGGAATACTTATCTTTATAGACTAG... | benign | 95,583 |
Determine if the mutation at chromosome 5, position 90712421 in gene ADGRV1 (adhesion G protein-coupled receptor V1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ADGRV1-related_disorder'] | TTAATATTTTAAGGTATTGGTAACATACTAAGTTTGGTGGATAGAATAAAAATAAAAAGGGAAGATAAGTTTACTTTGATATTAATCTCTCTTGACTTCACCAAACTTTTTCCCCATCTTTCCCATGTGTCTCTACTTCTGTTTGTGTCCATGTCTCTCTGTGTCTCTTTTGCACACCTCTGTTTTCTCTGTACCTTTCCTTGCACTTCTTTCATTTATTTTTCATTTTTTTTTGCTCTTTCTACTCCTTCCAACTGTCCCCATTTTCCTTTCCTCCTGAAATAGTGATATTATAGAATAGAGATGCCAAATATGTTTTA... | TTAATATTTTAAGGTATTGGTAACATACTAAGTTTGGTGGATAGAATAAAAATAAAAAGGGAAGATAAGTTTACTTTGATATTAATCTCTCTTGACTTCACCAAACTTTTTCCCCATCTTTCCCATGTGTCTCTACTTCTGTTTGTGTCCATGTCTCTCTGTGTCTCTTTTGCACACCTCTGTTTTCTCTGTACCTTTCCTTGCACTTCTTTCATTTATTTTTCATTTTTTTTTGCTCTTTCTACTCCTTCCAACTGTCCCCATTTTCCTTTCCTCCTGAAATAGTGATATTATAGAATAGAGATGCCAAATATGTTTTA... | pathogenic | 95,588 |
Variant chromosome 5, position 90724829, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? Disease(s)? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome'] | TGGAACTTTAGCTATATATATTGTATTTGAAGTCATGGAAATTGATGTAATAATCTGAAAAGAAAGGCTGAAGATGGAGAAGGGAAGAGGACACTATAGACTGAACTATAAGAAGGTTCAACTTGAATGGCTGAGGATATGGGATGATGGCCTAGCAAAGGAGACTTAGGGGACCTGGTAGGAAACTCAGGAGAAAACAGGATGGCAGATACCAGCAGAAGAGTGCTTTAAAATGGAGGAAAAAGTAAACGGTGTCAACCCCTGGTGAGAAGTCCAGTAAAATGAGAACCTGGAAAATAATTATTATAATTAGCAACATA... | TGGAACTTTAGCTATATATATTGTATTTGAAGTCATGGAAATTGATGTAATAATCTGAAAAGAAAGGCTGAAGATGGAGAAGGGAAGAGGACACTATAGACTGAACTATAAGAAGGTTCAACTTGAATGGCTGAGGATATGGGATGATGGCCTAGCAAAGGAGACTTAGGGGACCTGGTAGGAAACTCAGGAGAAAACAGGATGGCAGATACCAGCAGAAGAGTGCTTTAAAATGGAGGAAAAAGTAAACGGTGTCAACCCCTGGTGAGAAGTCCAGTAAAATGAGAACCTGGAAAATAATTATTATAATTAGCAACATA... | pathogenic | 95,601 |
Clinical significance of chromosome 5, position 90725579, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ADGRV1-related_disorder', 'Retinal_dystrophy'] | TCTTCATTTGTGGTCGTCTTGAATTATTGTAGAGAAGGATTTGTCCATATGTCAGGACCATTTGGGACTCTAAATGAAAAATCTGCAGTATACCTTTAAAAGGGAGCAACATAAAAATTTAAAATGCTGGATTTTTAGGAAAGGAAATTGCTATTGGATATTACATGTAAGGCATTGACAAATTCTCTTGAATTAGTAATCTAAAAATGATCAATCATTTATAGGGAGCCCAGGTTTCAACCTTGATAGTTGTTCTTACTGCATCATGTTCACACCATTAACCAAAATTTAAAAAGAACTTAATGTTTTGGAGGGAAGCA... | TCTTCATTTGTGGTCGTCTTGAATTATTGTAGAGAAGGATTTGTCCATATGTCAGGACCATTTGGGACTCTAAATGAAAAATCTGCAGTATACCTTTAAAAGGGAGCAACATAAAAATTTAAAATGCTGGATTTTTAGGAAAGGAAATTGCTATTGGATATTACATGTAAGGCATTGACAAATTCTCTTGAATTAGTAATCTAAAAATGATCAATCATTTATAGGGAGCCCAGGTTTCAACCTTGATAGTTGTTCTTACTGCATCATGTTCACACCATTAACCAAAATTTAAAAAGAACTTAATGTTTTGGAGGGAAGCA... | pathogenic | 95,611 |
Mutation at chromosome 5, position 90729686, within ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | CTGATTTGCCTTGGAAAGTACTGGATTATGCCTGTTCTGGTATTGTTATTAATATTGCCCCTTTCACTCTTTAAAGGATCCCTGTTTAGGTGATTAATTATATGGTCATCCTAATGGAAGGTACTCCATGATGATCTTACCTCTCCAGCCTTAACTCTCATCATTCTCCCAGCACTATCAGATTCCTTCCAGTCTTTATTCAGATAATGACAAATTTTTTCTGTCTTAAGAACTTTGTCATGTTGTTCCTTCTAACTTGATTTCCCAAATACCTTCATAATTCTCTATCAGACCATCCTAATTGTCATCTTCAGTACTTG... | CTGATTTGCCTTGGAAAGTACTGGATTATGCCTGTTCTGGTATTGTTATTAATATTGCCCCTTTCACTCTTTAAAGGATCCCTGTTTAGGTGATTAATTATATGGTCATCCTAATGGAAGGTACTCCATGATGATCTTACCTCTCCAGCCTTAACTCTCATCATTCTCCCAGCACTATCAGATTCCTTCCAGTCTTTATTCAGATAATGACAAATTTTTTCTGTCTTAAGAACTTTGTCATGTTGTTCCTTCTAACTTGATTTCCCAAATACCTTCATAATTCTCTATCAGACCATCCTAATTGTCATCTTCAGTACTTG... | pathogenic | 95,621 |
Classify the chromosome 5 variant at position 90745231 affecting gene ADGRV1 (adhesion G protein-coupled receptor V1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | TACTCAGTGTCTCCAGTTTTATAAAACTTGATGAAAAATATATGGCCATTTAAAATGCAAATTTATTGATAGCCTTTTTATTGACTGCCTTAACTTTTTATGCAACGTTTGCTGAAGTGTGATAGTATTTAAGTCCATTACTATAAATAAGCACGAACAGTGGTTCTTGATATGTAAGAGTAAGGATATGGGGCTTTCCGTTGTAACCTATGGGCTAAAATTGTAGAAGAGGCTCATATGTTCTTATTCTTGGTGCTATTTTAATATCTAACCAATCTCATTTGATATCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT... | TACTCAGTGTCTCCAGTTTTATAAAACTTGATGAAAAATATATGGCCATTTAAAATGCAAATTTATTGATAGCCTTTTTATTGACTGCCTTAACTTTTTATGCAACGTTTGCTGAAGTGTGATAGTATTTAAGTCCATTACTATAAATAAGCACGAACAGTGGTTCTTGATATGTAAGAGTAAGGATATGGGGCTTTCCGTTGTAACCTATGGGCTAAAATTGTAGAAGAGGCTCATATGTTCTTATTCTTGGTGCTATTTTAATATCTAACCAATCTCATTTGATATCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT... | pathogenic | 95,626 |
Regarding the variant found on chromosome 5 at position 90745752 in gene ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | CTCGTGATCTTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTCATTTGATATATTTATGTTCCAATGTGTTTATCTAGGTACTGGAATTTGTACATGTTTTTCTATGATTTCTCATTTTTTCTCCCAGTTTTATTTAAGTCTGGAAATTATTTAGTATTGTATATAATATAGTAAGCCCCCTTCCTTCTTAACTTGTGTAGATATAAATATGTCCTTTGGCTATTTTTTACTTCTTTTTTAGAAGCAACCCTATTAACTGATATATATATATACATATGGACAAGATCTAACTC... | CTCGTGATCTTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTCATTTGATATATTTATGTTCCAATGTGTTTATCTAGGTACTGGAATTTGTACATGTTTTTCTATGATTTCTCATTTTTTCTCCCAGTTTTATTTAAGTCTGGAAATTATTTAGTATTGTATATAATATAGTAAGCCCCCTTCCTTCTTAACTTGTGTAGATATAAATATGTCCTTTGGCTATTTTTTACTTCTTTTTTAGAAGCAACCCTATTAACTGATATATATATATACATATGGACAAGATCTAACTC... | pathogenic | 95,631 |
Variant in ADGRV1 (adhesion G protein-coupled receptor V1), chromosome 5, position 90755151—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | CTATCTTTCTCTCTCCACCTGTGTTTTAGTTGATTCATTGCTTAGTGATACATCTGTTCAGAGTTAGTCAAAGGAAATAATCCGGGCAAAAGTTTTGCAGAGAAAAATCTTTAAGCTAGTATGCCACCTTATTTTACTTTTATGGATCTTTGTATATGGTATCTAGAACTTAGATTCCCAGAGAGACTGTATACTTTATCTTAGAATGGAATTCAGTCTCCAGTATTTGACAATTTGGCTGCATTTTTTTTTATTAGCTTAAAGTTTATAAATGGTTTGCTCTTCCTTTTTCCTAACAATCTTCCATTAATATGAAAGAC... | CTATCTTTCTCTCTCCACCTGTGTTTTAGTTGATTCATTGCTTAGTGATACATCTGTTCAGAGTTAGTCAAAGGAAATAATCCGGGCAAAAGTTTTGCAGAGAAAAATCTTTAAGCTAGTATGCCACCTTATTTTACTTTTATGGATCTTTGTATATGGTATCTAGAACTTAGATTCCCAGAGAGACTGTATACTTTATCTTAGAATGGAATTCAGTCTCCAGTATTTGACAATTTGGCTGCATTTTTTTTTATTAGCTTAAAGTTTATAAATGGTTTGCTCTTCCTTTTTCCTAACAATCTTCCATTAATATGAAAGAC... | pathogenic | 95,645 |
Does the genetic variant at chromosome 5, position 90756446, impacting gene ADGRV1 (adhesion G protein-coupled receptor V1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCTTTCATTTGAATAGTCAATGGGAAAAATACAACATGTGGTTATGTTCCTGGGTCTTTAATATGGCAAATTAAGTTTTTAAAATCTAAACAATGAAATAAAAGTTAGGTGCTGTGAAATACTTTGAGCCTCCTGATAGGCACGTCACTGTAAGAACAAAATCACTCTTAATGATTAGTCATTAAATGACTTTGTATATATAATTTTTCATTTTTTGAAGAATCTTTTGAGCCTTTATAATTATCATCTCTGTTCAACCTGCATATCTGTACTTCCCTAAGACTTTGCAGCAATTTCTGTTAAAGTGTATGACATGTGCA... | CCTTTCATTTGAATAGTCAATGGGAAAAATACAACATGTGGTTATGTTCCTGGGTCTTTAATATGGCAAATTAAGTTTTTAAAATCTAAACAATGAAATAAAAGTTAGGTGCTGTGAAATACTTTGAGCCTCCTGATAGGCACGTCACTGTAAGAACAAAATCACTCTTAATGATTAGTCATTAAATGACTTTGTATATATAATTTTTCATTTTTTGAAGAATCTTTTGAGCCTTTATAATTATCATCTCTGTTCAACCTGCATATCTGTACTTCCCTAAGACTTTGCAGCAATTTCTGTTAAAGTGTATGACATGTGCA... | benign | 95,649 |
Does the genetic variant at chromosome 5, position 90777916, impacting gene ADGRV1 (adhesion G protein-coupled receptor V1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | GATACAGCTCTTTGTGTCATGAACCCCTAATATGTGTTTCTGGAAACAATTTTCTTTAAGTTTCTGCTAAGTTATATGGATACTCAAATACTTGATATAGTTTTCTATTTCCATCTTAATAGAAATATTTGACACAGGTTTATAAATGCTTACAGTCAAATGATAGAGTCAGAAAATTAAAAATGAAAAAGTGCCCCCAAGAAATCTTGCTTTTGCCATATAGCCAGTTGACATAGCTATGTAGTCAATTGCAGTGAGCTGCAAAATGGTTACTGTAGAAACAAATTAATGCCAATGGTAGAGGAGCCCTTGCTTTTCAT... | GATACAGCTCTTTGTGTCATGAACCCCTAATATGTGTTTCTGGAAACAATTTTCTTTAAGTTTCTGCTAAGTTATATGGATACTCAAATACTTGATATAGTTTTCTATTTCCATCTTAATAGAAATATTTGACACAGGTTTATAAATGCTTACAGTCAAATGATAGAGTCAGAAAATTAAAAATGAAAAAGTGCCCCCAAGAAATCTTGCTTTTGCCATATAGCCAGTTGACATAGCTATGTAGTCAATTGCAGTGAGCTGCAAAATGGTTACTGTAGAAACAAATTAATGCCAATGGTAGAGGAGCCCTTGCTTTTCAT... | pathogenic | 95,664 |
Is the chromosome 5, position 90778451 variant in ADGRV1 (adhesion G protein-coupled receptor V1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome'] | AGTGCTTATGTGCACCTGCTACAAAGTGGTCTATATCATCTTGAATTTAGGTAGTGCATCAATAATTATTCGGGGTGATAAGCGAGCATCAGGAGAAGTTGGGATAGCTCCGTCATCTAGGCACATCCTCATTGGGGAACCCTCAGCAAAATATAATGGTACCGCTATTATCAGGTAAGGACTTCATGATTTTTCTTTGCCTATATGGGGGTTACGAAGTTTTATTTAAATCATTAGTCTTAAGTTTATCATTCTCAATACATACATAGTCTTCAAGCATTAACATTCTATATACTGTTAACATCCTGTGGAGAGGAGAA... | AGTGCTTATGTGCACCTGCTACAAAGTGGTCTATATCATCTTGAATTTAGGTAGTGCATCAATAATTATTCGGGGTGATAAGCGAGCATCAGGAGAAGTTGGGATAGCTCCGTCATCTAGGCACATCCTCATTGGGGAACCCTCAGCAAAATATAATGGTACCGCTATTATCAGGTAAGGACTTCATGATTTTTCTTTGCCTATATGGGGGTTACGAAGTTTTATTTAAATCATTAGTCTTAAGTTTATCATTCTCAATACATACATAGTCTTCAAGCATTAACATTCTATATACTGTTAACATCCTGTGGAGAGGAGAA... | pathogenic | 95,669 |
Is the genetic mutation found on chromosome 5 at position 90783162, within the gene ADGRV1 (adhesion G protein-coupled receptor V1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Usher_syndrome'] | CCAAAGGTTCATTTTATGACAGCATCTTTCTGATTTCCTCACAGTTTATTATCTTCCCATTGCCCAAGTTTAGTAACTTTATATTAGTTTTGGCTTCGTACAGGCACCACTCATTGGGAGCAACACAGAAATCTGTTTCAAAACATCATTTCAGGAAAAAGAGAATATTTTAGCGTTGAGGATCTTTAAAAGTATTGCAGTACTTTATAGAACTAAGTTGTAGGAGCTAAGAGGATCTTTTAATTCATGCTATGCAATTATGTATTTTTTGTTGTTGTTGTATTTTATTTTATTTTGATTTGTATGACTTTGGAAGAGGG... | CCAAAGGTTCATTTTATGACAGCATCTTTCTGATTTCCTCACAGTTTATTATCTTCCCATTGCCCAAGTTTAGTAACTTTATATTAGTTTTGGCTTCGTACAGGCACCACTCATTGGGAGCAACACAGAAATCTGTTTCAAAACATCATTTCAGGAAAAAGAGAATATTTTAGCGTTGAGGATCTTTAAAAGTATTGCAGTACTTTATAGAACTAAGTTGTAGGAGCTAAGAGGATCTTTTAATTCATGCTATGCAATTATGTATTTTTTGTTGTTGTTGTATTTTATTTTATTTTGATTTGTATGACTTTGGAAGAGGG... | pathogenic | 95,688 |
Chromosome 5, position 90784025, gene ADGRV1 (adhesion G protein-coupled receptor V1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | GTAGTATCTGGATCCTTGATCTTGCTTTCTCGAAACAGTCCCCAGTAGCAGCTTGCCTAATATTGCCAATTCTTTCCTCTTGTAGAAGCAGAATACAGAATATATGGTTATATTCCTTCCCAGGTAGGAAGAGATGGCTGCCTTTCTAGGAAATGATTTTATTCAAAGGCAGAATATGAATATGACTTTAAAAATAAATATCTTACTGCTGCATTTAACCTGATTGGCTTCATTGCCTCTATCAAAATTCTTTGGTTATCTAGCCATTTTTAAAGTTCATAAAAAATTGCTTTAGGAGTTGGTTTATAATGAGTTTATGG... | GTAGTATCTGGATCCTTGATCTTGCTTTCTCGAAACAGTCCCCAGTAGCAGCTTGCCTAATATTGCCAATTCTTTCCTCTTGTAGAAGCAGAATACAGAATATATGGTTATATTCCTTCCCAGGTAGGAAGAGATGGCTGCCTTTCTAGGAAATGATTTTATTCAAAGGCAGAATATGAATATGACTTTAAAAATAAATATCTTACTGCTGCATTTAACCTGATTGGCTTCATTGCCTCTATCAAAATTCTTTGGTTATCTAGCCATTTTTAAAGTTCATAAAAAATTGCTTTAGGAGTTGGTTTATAATGAGTTTATGG... | pathogenic | 95,697 |
Benign or pathogenic: chromosome 5, position 90788071, gene ADGRV1 (adhesion G protein-coupled receptor V1) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_2C'] | TGGATTAGGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGGATGGAAAACCAAGCACTGCATTTTCTCACTTATAGGTGGGAATTGAACAATGAAAACACTTGGACACAGGGCAGGGAACATCATACACTGGGGCCTATTGGGGGGTGGGGGGCTAGGGGAGAGATAACATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATAGTACATGTA... | TGGATTAGGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGGATGGAAAACCAAGCACTGCATTTTCTCACTTATAGGTGGGAATTGAACAATGAAAACACTTGGACACAGGGCAGGGAACATCATACACTGGGGCCTATTGGGGGGTGGGGGGCTAGGGGAGAGATAACATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATAGTACATGTA... | pathogenic | 95,700 |
Variant at chromosome position 90790951, chromosome 5, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | CAGCAGGGTGGAGGGAGAGAGAGAGATTTGAAGGAACAGACTCACATGATTGTGAGGGCTGGCAAGTCCAAAATCCATGAAATAGGCTGGCAGGAAGGAAACTCAGGAAAGAGTTGAAGTTGCAGTTTTGTGGAGCAGAGCAGTTCAGTAAGCTAAAAACTCAAGCAGGATTCCTAAGTTACAGTCTTGAGGCAGAATTCCTTTTTCTCCAGGAAACCTCAGTTTTTGCTCTTAAGGCCTTCAGTTGTTTAGATGAGGCCCATTCACATTCTTGAGGGTGATCTCCTTTACGTACAGTCAGCTGATTGTAAGTATTCATC... | CAGCAGGGTGGAGGGAGAGAGAGAGATTTGAAGGAACAGACTCACATGATTGTGAGGGCTGGCAAGTCCAAAATCCATGAAATAGGCTGGCAGGAAGGAAACTCAGGAAAGAGTTGAAGTTGCAGTTTTGTGGAGCAGAGCAGTTCAGTAAGCTAAAAACTCAAGCAGGATTCCTAAGTTACAGTCTTGAGGCAGAATTCCTTTTTCTCCAGGAAACCTCAGTTTTTGCTCTTAAGGCCTTCAGTTGTTTAGATGAGGCCCATTCACATTCTTGAGGGTGATCTCCTTTACGTACAGTCAGCTGATTGTAAGTATTCATC... | pathogenic | 95,707 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 90791279, gene ADGRV1 (adhesion G protein-coupled receptor V1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | AAAATACCTTCACAGTGACATCTAGATGAGCGTTTGACCAAACAACTGGGCACTATAGTCTTGGCAAGCTGATACACAAAATTAGTCCTCACAGGGCCTGTTTGCTTCACTCCATGTATATCATAGCTAGTAGGAAGAATTTAGCTAAAATTAACTGATTAAATGTAGTAAATATGAGATGAATAAAGCGAAATTCAGGCATCAAATTACTATTCTCTTGGGATTCTACAAATGGGAGTTTTCTGGATTCTTATTCCCATCATCTTTGGGGAATAAGAACCTACTTGTTTTAGGTAACAGTCAATGTGATAAAGAAGTTT... | AAAATACCTTCACAGTGACATCTAGATGAGCGTTTGACCAAACAACTGGGCACTATAGTCTTGGCAAGCTGATACACAAAATTAGTCCTCACAGGGCCTGTTTGCTTCACTCCATGTATATCATAGCTAGTAGGAAGAATTTAGCTAAAATTAACTGATTAAATGTAGTAAATATGAGATGAATAAAGCGAAATTCAGGCATCAAATTACTATTCTCTTGGGATTCTACAAATGGGAGTTTTCTGGATTCTTATTCCCATCATCTTTGGGGAATAAGAACCTACTTGTTTTAGGTAACAGTCAATGTGATAAAGAAGTTT... | pathogenic | 95,716 |
Classify the chromosome 5 variant at position 90807616 affecting gene ADGRV1 (adhesion G protein-coupled receptor V1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | TACAATGCTCCCATATTTAAGTGATCAGAGTAGTGCAGGCTGCTTGGTGAGAAAAGGAGAGAAGCTTTTTTCAGTCAAATTAACAACTCCATGCCTTACCTCAAAAGACTGGGGTCACTAAGCAAACTACTCTGTCCATACAATAGGAGTTTGTTGAAAGTAGTTCTAAGAATCTAATTTGGCAAATACAGTAATAAGAAAAATAAAAATACATACAGCTCTTGTATGCATTTCCATGTTCACCTGACTATTTCTGGCAGTAGGGCAGCTGTTACTTTAGATACTTTATTTTTTAAAGTATACCATTAGGTCTTTGAGAG... | TACAATGCTCCCATATTTAAGTGATCAGAGTAGTGCAGGCTGCTTGGTGAGAAAAGGAGAGAAGCTTTTTTCAGTCAAATTAACAACTCCATGCCTTACCTCAAAAGACTGGGGTCACTAAGCAAACTACTCTGTCCATACAATAGGAGTTTGTTGAAAGTAGTTCTAAGAATCTAATTTGGCAAATACAGTAATAAGAAAAATAAAAATACATACAGCTCTTGTATGCATTTCCATGTTCACCTGACTATTTCTGGCAGTAGGGCAGCTGTTACTTTAGATACTTTATTTTTTAAAGTATACCATTAGGTCTTTGAGAG... | pathogenic | 95,726 |
Does the genetic variant at chromosome 5, position 90811300, impacting gene ADGRV1 (adhesion G protein-coupled receptor V1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Usher_syndrome'] | AGGCATAAATCTTACAGTGCTTACTCTAGGCCGGGCATAAATACACACACACACACACACACACACACACACACACGCTCTGTCTCTCTTTACTCTCCCCAGCAACCTTACAAAGTAGATTATATTATTTGTCTCATTTTATAGATGACGAAAGTCATAGATAGATTATGCGATAAACCCAGAAGCACACAGTTAATATATGTTGGGGCCATGATTTCAACCCAGGCTGAATGGCCTCTGTGTGAGGTATTAACCACTGTTTTATGTACTGAGTGCTGGCTGCTTGACAAGAGAGAGTAATGGGACCTGAAGAATCCTCC... | AGGCATAAATCTTACAGTGCTTACTCTAGGCCGGGCATAAATACACACACACACACACACACACACACACACACACGCTCTGTCTCTCTTTACTCTCCCCAGCAACCTTACAAAGTAGATTATATTATTTGTCTCATTTTATAGATGACGAAAGTCATAGATAGATTATGCGATAAACCCAGAAGCACACAGTTAATATATGTTGGGGCCATGATTTCAACCCAGGCTGAATGGCCTCTGTGTGAGGTATTAACCACTGTTTTATGTACTGAGTGCTGGCTGCTTGACAAGAGAGAGTAATGGGACCTGAAGAATCCTCC... | pathogenic | 95,745 |
Variant on chromosome 5, at position 90829009, affecting ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome'] | ATTTATCTTATGATTCTATATTAGTAAAATGTAAAAGGTAACAACTTAGGAAGCATGCTCTTAACCACAAAATCTGTTTGAATCCAGTGTTTAAATATTTGTTGCAAATATTTTCAAAAATATTTAAGTAAGGTATTGTTTCATTGTTACTTTGGTTTTTCTATTGCTGAATAGTTCTGGTCCCTGGAAAAATCATCTTATACTAGTTAGGGCAAAAGATCATCCTGGGATGCTTCTGACCTAACCAGGAAAAGAACCTGCTGGGAATTACACATGGAATGGGCTCTTATGAGGTCTCTGTCATTTTTAGGAGTCTAGGG... | ATTTATCTTATGATTCTATATTAGTAAAATGTAAAAGGTAACAACTTAGGAAGCATGCTCTTAACCACAAAATCTGTTTGAATCCAGTGTTTAAATATTTGTTGCAAATATTTTCAAAAATATTTAAGTAAGGTATTGTTTCATTGTTACTTTGGTTTTTCTATTGCTGAATAGTTCTGGTCCCTGGAAAAATCATCTTATACTAGTTAGGGCAAAAGATCATCCTGGGATGCTTCTGACCTAACCAGGAAAAGAACCTGCTGGGAATTACACATGGAATGGGCTCTTATGAGGTCTCTGTCATTTTTAGGAGTCTAGGG... | pathogenic | 95,761 |
Evaluate this variant at chromosome 5, position 90840905, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy'] | TCTCGAAAAAAAACCCAAAATGAAACAAACAAAAAAGTCCTATTGACTCTACATTTAAATATATTTCTAGTCTGAGTGCTTCTACTCATGTGTATTTCTAGTCTGAGTATTTCTATTCATGTGACCCTATTTATTCTACCACTGTTTCTTGCATGAACGAATGCAAAAACCTCCATGCTCATTCCCTACTATATCCTAATATACACAATAGCCAGAACACTCATGAATAATGATAAATAAAATGTGTCATTCTCTTGCTTGAATCCTCTAGGGTCTTCCTGCCACATTTTGAATAATGAACCTACATGCCTACATGATCT... | TCTCGAAAAAAAACCCAAAATGAAACAAACAAAAAAGTCCTATTGACTCTACATTTAAATATATTTCTAGTCTGAGTGCTTCTACTCATGTGTATTTCTAGTCTGAGTATTTCTATTCATGTGACCCTATTTATTCTACCACTGTTTCTTGCATGAACGAATGCAAAAACCTCCATGCTCATTCCCTACTATATCCTAATATACACAATAGCCAGAACACTCATGAATAATGATAAATAAAATGTGTCATTCTCTTGCTTGAATCCTCTAGGGTCTTCCTGCCACATTTTGAATAATGAACCTACATGCCTACATGATCT... | pathogenic | 95,768 |
Does the genetic variant at chromosome 5, position 90853380, impacting gene ADGRV1 (adhesion G protein-coupled receptor V1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Febrile_seizures,_familial,_4', 'Rare_genetic_deafness', 'Usher_syndrome_type_2C'] | AAAACAATTAGGTGGTAGAATTAATATGAAGATGACAAATTGAACACAGAAAATAAGAGAGAGATCAAGACTAGTTTGTTTACTCAGGAAGCCCTAAAGATGCTGAACATTCTGATATGCATTATTTATACATTGTCTTGAGCAATATTAAGGGAGTCTGCTGAGAGTTAAGCATTTGGGGAGTGAGCAAGGATATTGAGGAGAATGACGGAATCTAGAACAATCACTTGGAAGCCAAGTAAAAATAATGCCAGGTGGCACTGAGGGTCCAACTGAGGTTGGTCACTGTGAATTTGCGGTGGTGCCAATCTACATGTCAA... | AAAACAATTAGGTGGTAGAATTAATATGAAGATGACAAATTGAACACAGAAAATAAGAGAGAGATCAAGACTAGTTTGTTTACTCAGGAAGCCCTAAAGATGCTGAACATTCTGATATGCATTATTTATACATTGTCTTGAGCAATATTAAGGGAGTCTGCTGAGAGTTAAGCATTTGGGGAGTGAGCAAGGATATTGAGGAGAATGACGGAATCTAGAACAATCACTTGGAAGCCAAGTAAAAATAATGCCAGGTGGCACTGAGGGTCCAACTGAGGTTGGTCACTGTGAATTTGCGGTGGTGCCAATCTACATGTCAA... | pathogenic | 95,774 |
The mutation in gene ADGRV1 (adhesion G protein-coupled receptor V1) at chromosome 5, position 90855806—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rare_genetic_deafness'] | GGAAAGTAAAAAATATATAGCTTTAACTAATATACTATTACGTACTTAACTTTTAATGAAGTCATCCAGTTAGAGTCAAAGTGAGTGTTGTCAGCTGAAGACTGCTGAATGGCTAAGGCGGGGTAGAAAGGGCACAATGGAAAACCAATCAGATGTCCTGCATGCATAAGTGAGCTAAATACTAACAGTGAAAGAAAACAAATGACTGTAGCTACTAGAAAAATGAAGTCAAGTTCAGGGTAAGAGACTCAGTCATTACACCAATTGTAAAACATCATTATATGTTCTGTTTTTAACATTCTAGGTATTATCTTTGAGTG... | GGAAAGTAAAAAATATATAGCTTTAACTAATATACTATTACGTACTTAACTTTTAATGAAGTCATCCAGTTAGAGTCAAAGTGAGTGTTGTCAGCTGAAGACTGCTGAATGGCTAAGGCGGGGTAGAAAGGGCACAATGGAAAACCAATCAGATGTCCTGCATGCATAAGTGAGCTAAATACTAACAGTGAAAGAAAACAAATGACTGTAGCTACTAGAAAAATGAAGTCAAGTTCAGGGTAAGAGACTCAGTCATTACACCAATTGTAAAACATCATTATATGTTCTGTTTTTAACATTCTAGGTATTATCTTTGAGTG... | pathogenic | 95,782 |
A mutation at chromosome position 90855813 on chromosome 5 in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Febrile_seizures,_familial,_4', 'Usher_syndrome_type_2C'] | AAAAAATATATAGCTTTAACTAATATACTATTACGTACTTAACTTTTAATGAAGTCATCCAGTTAGAGTCAAAGTGAGTGTTGTCAGCTGAAGACTGCTGAATGGCTAAGGCGGGGTAGAAAGGGCACAATGGAAAACCAATCAGATGTCCTGCATGCATAAGTGAGCTAAATACTAACAGTGAAAGAAAACAAATGACTGTAGCTACTAGAAAAATGAAGTCAAGTTCAGGGTAAGAGACTCAGTCATTACACCAATTGTAAAACATCATTATATGTTCTGTTTTTAACATTCTAGGTATTATCTTTGAGTGTGAAAGG... | AAAAAATATATAGCTTTAACTAATATACTATTACGTACTTAACTTTTAATGAAGTCATCCAGTTAGAGTCAAAGTGAGTGTTGTCAGCTGAAGACTGCTGAATGGCTAAGGCGGGGTAGAAAGGGCACAATGGAAAACCAATCAGATGTCCTGCATGCATAAGTGAGCTAAATACTAACAGTGAAAGAAAACAAATGACTGTAGCTACTAGAAAAATGAAGTCAAGTTCAGGGTAAGAGACTCAGTCATTACACCAATTGTAAAACATCATTATATGTTCTGTTTTTAACATTCTAGGTATTATCTTTGAGTGTGAAAGG... | pathogenic | 95,783 |
Evaluate the clinical significance of the mutation at chromosome 5, position 91150009 in gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CTTGTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGC... | CTTGTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGC... | benign | 95,798 |
Chromosome 5, position 91150009, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTTGTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGC... | CTTGTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGC... | benign | 95,799 |
Is the genetic change at chromosome 5, position 91150012, within gene ADGRV1 (adhesion G protein-coupled receptor V1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGCCAT... | GTTGGGAACTGGAGTAAAGGTGACCCTTGCTATGCTTTAACAAAAAGACTGGTGTCATTTTACCCCCTCCCTAGAAATCTGTGGAACTTTTGAACTTGAGAGAGATAATTTAGGTTATCTGGCGGAAGAAATTTCTAAGCAGCAAAGCATTCAAGAGGTGACAAAGCATAAACGTTTGGAAAATTTGCAGCCTGACGATGCAGTAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTTGAGCTGGCTGCAGAAATTTGCATAAGTAATGAGGAGCCAAATGTTAATCGCCAAGACAATGGGGAAAATATCTCCAGGCCAT... | benign | 95,800 |
Variant on chromosome 5, at position 91153241, affecting ADGRV1 (adhesion G protein-coupled receptor V1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Usher_syndrome'] | CAGAGATAACTTTTGTCCTTCATAGCAATATGGAAAGGTATTTTATTTATGTTAGGTTAAAATTAAGGTAAATATTCACAATTCAAGTACTATATATATTTTTAGTTTGAATGAGAAATTTTTATATACAGAATTATTAACTAGTAACAGAAACAGAGTAGAAAGGTGGTTGTCAGGTGCTGGGGGTGAAAGAAATGAAGGATTTTGATCAAAGGGTACAAAATTTGAGTTATAAAATGAATAAGTTCAAGTACAGTCTTTAAAAATCAACCTATATCTTTAGTATCCTTAATTTTTTGGAAATCTAGTACGATTTCTCT... | CAGAGATAACTTTTGTCCTTCATAGCAATATGGAAAGGTATTTTATTTATGTTAGGTTAAAATTAAGGTAAATATTCACAATTCAAGTACTATATATATTTTTAGTTTGAATGAGAAATTTTTATATACAGAATTATTAACTAGTAACAGAAACAGAGTAGAAAGGTGGTTGTCAGGTGCTGGGGGTGAAAGAAATGAAGGATTTTGATCAAAGGGTACAAAATTTGAGTTATAAAATGAATAAGTTCAAGTACAGTCTTTAAAAATCAACCTATATCTTTAGTATCCTTAATTTTTTGGAAATCTAGTACGATTTCTCT... | pathogenic | 95,809 |
Variant chromosome 5, position 91153323, gene ADGRV1 (adhesion G protein-coupled receptor V1): benign or pathogenic? Disease(s)? | pathogenic; ['Usher_syndrome_type_2C'] | TCAAGTACTATATATATTTTTAGTTTGAATGAGAAATTTTTATATACAGAATTATTAACTAGTAACAGAAACAGAGTAGAAAGGTGGTTGTCAGGTGCTGGGGGTGAAAGAAATGAAGGATTTTGATCAAAGGGTACAAAATTTGAGTTATAAAATGAATAAGTTCAAGTACAGTCTTTAAAAATCAACCTATATCTTTAGTATCCTTAATTTTTTGGAAATCTAGTACGATTTCTCTATCCCCAAAGTTCTTAAAATAGACTTATTTCATCACAGCAGGCCCAATGGAAACAGGGACTTTTTTAGGATCAAGAATTCAG... | TCAAGTACTATATATATTTTTAGTTTGAATGAGAAATTTTTATATACAGAATTATTAACTAGTAACAGAAACAGAGTAGAAAGGTGGTTGTCAGGTGCTGGGGGTGAAAGAAATGAAGGATTTTGATCAAAGGGTACAAAATTTGAGTTATAAAATGAATAAGTTCAAGTACAGTCTTTAAAAATCAACCTATATCTTTAGTATCCTTAATTTTTTGGAAATCTAGTACGATTTCTCTATCCCCAAAGTTCTTAAAATAGACTTATTTCATCACAGCAGGCCCAATGGAAACAGGGACTTTTTTAGGATCAAGAATTCAG... | pathogenic | 95,810 |
Gene NR2F1 variant at chromosome position 93585114 on chromosome 5: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTC... | CCAGTCAGTCGCCTTTGATTATCAGTTGCCAGCAGCCCTTCTCTTGGCTCCTTGACACGAGCTCCATATAAGGCAGCGATCTCCATAGAAACGTGTCAGTTTCAATAGTAGTGTCAAAGTTCACTATATACAGACATTCGCGCAGATCCCCCTTTCGGAAACATTGCTCTGCGAGTCCTCCCGTTTAAACGCATTCAATTTTTGGGTCTCTCTCTCTCTCTCTCTCTCTCTTCTTCTCTTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCTTTCTCCCCCCTCTCTCCCTCCTCTCCTCTCTCTCTCCTCTCTTC... | benign | 95,823 |
Does the variant on chromosome 5 at location 93588454 affecting gene NR2F1 (nuclear receptor subfamily 2 group F member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTTTTAAAAAAAAACACAACTTTTGATGTTGTATTTGGATATGCTTCATGTTCATGTGGCAAGAGATGCAGTACTTTTCTTATAAATATATTTAGCCGTTTACAGTTAAAGTTTATCTCTTGACAATCATTAAAGATGTCTTATAGTCAAATTAGCGAACCAGTCAATTTTGCAGAATGCAGATTACTCCTTCTTGTAATTGACTTTAAAATTATATTTTATATGCCACAAGAAAAGAAATTGAATTCCTTCAGATCTCAAGGAGCAGACAAATATGACTACTTCATTTCTAGCTCCAGGGAGATTTTGTAGGCATCTGA... | TTTTTAAAAAAAAACACAACTTTTGATGTTGTATTTGGATATGCTTCATGTTCATGTGGCAAGAGATGCAGTACTTTTCTTATAAATATATTTAGCCGTTTACAGTTAAAGTTTATCTCTTGACAATCATTAAAGATGTCTTATAGTCAAATTAGCGAACCAGTCAATTTTGCAGAATGCAGATTACTCCTTCTTGTAATTGACTTTAAAATTATATTTTATATGCCACAAGAAAAGAAATTGAATTCCTTCAGATCTCAAGGAGCAGACAAATATGACTACTTCATTTCTAGCTCCAGGGAGATTTTGTAGGCATCTGA... | benign | 95,852 |
A genetic variant on chromosome 5, position 95491031, affects the gene SKIC3 (SKI3 subunit of superkiller complex). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Trichohepatoenteric_syndrome'] | CCCAACATATGCTGCATACAAGAAACTAGTCTCACCTATCACAACACATATAGGCTGGATGTGGTGGCTCACACCTGTAATCCCAATACTTTAGGAGGCCAAAACAGGAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGAGCAACATAGCAAGACCTCATTTCTAAAATAAAAAAATTAGTTGGGCATAGTGACTTGTACCTATGACTTGGGAGGCGGAGGCAGGAGTATTACTTGAGCCCAGGAGTTTGAGGTCAGTCTGGGCAACACAGCAAGACCTCATCTCTTAAAAAAAAAAACAACTAAAATAATGATA... | CCCAACATATGCTGCATACAAGAAACTAGTCTCACCTATCACAACACATATAGGCTGGATGTGGTGGCTCACACCTGTAATCCCAATACTTTAGGAGGCCAAAACAGGAGGACTGCTTGAGCCTAGGAGTTTGAGACCAGCCTGAGCAACATAGCAAGACCTCATTTCTAAAATAAAAAAATTAGTTGGGCATAGTGACTTGTACCTATGACTTGGGAGGCGGAGGCAGGAGTATTACTTGAGCCCAGGAGTTTGAGGTCAGTCTGGGCAACACAGCAAGACCTCATCTCTTAAAAAAAAAAACAACTAAAATAATGATA... | pathogenic | 95,875 |
Determine whether the variant at chromosome 5, position 95497416, in gene SKIC3 (SKI3 subunit of superkiller complex) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Trichohepatoenteric_syndrome'] | TACATAGTATTTTTAAAACTTACATACTCTAGTAAAATAAATAAAGTTCAAGGCACCGTGAAGCTCATCATTGCTTCAATAATCAACTCAATACTAAAAATAAGAAAAATACATGTAGCATCACAGTGTTTTCATTAGGTCAATTTGAAATCTATAACTTTAAATAATTGCAGCTACTTCAAATGGCTGTTGAGATTATAAAAATGCTGATAGCTGACACATAATAAAGCACTTTATTCAGGTAATTTTAGAGTCGAGTAACAATGGTCTTCCAGGTCCTTTGAGCCAACTTACTCACTAAAAATAACTAAAAATATGAA... | TACATAGTATTTTTAAAACTTACATACTCTAGTAAAATAAATAAAGTTCAAGGCACCGTGAAGCTCATCATTGCTTCAATAATCAACTCAATACTAAAAATAAGAAAAATACATGTAGCATCACAGTGTTTTCATTAGGTCAATTTGAAATCTATAACTTTAAATAATTGCAGCTACTTCAAATGGCTGTTGAGATTATAAAAATGCTGATAGCTGACACATAATAAAGCACTTTATTCAGGTAATTTTAGAGTCGAGTAACAATGGTCTTCCAGGTCCTTTGAGCCAACTTACTCACTAAAAATAACTAAAAATATGAA... | pathogenic | 95,876 |
Is chromosome 5, position 95498506, gene SKIC3 (SKI3 subunit of superkiller complex) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Trichohepatoenteric_syndrome_1'] | TAAGGTTCAAGGTGAATCAGAATTACTCCAGGTCTCAAGAACTAGCAACCCAAGCACAAAGTAGCCTGCTTTGTCCAAAAACCCCAAGTTCTAAACTTTGTATAACGTAGTCCCAGATTGATGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTT... | TAAGGTTCAAGGTGAATCAGAATTACTCCAGGTCTCAAGAACTAGCAACCCAAGCACAAAGTAGCCTGCTTTGTCCAAAAACCCCAAGTTCTAAACTTTGTATAACGTAGTCCCAGATTGATGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTT... | pathogenic | 95,879 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 95498568, gene SKIC3 (SKI3 subunit of superkiller complex): what disease(s) if pathogenic? | pathogenic | AGCCTGCTTTGTCCAAAAACCCCAAGTTCTAAACTTTGTATAACGTAGTCCCAGATTGATGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTTGCAGACTTCAGATGTTGGAATTATTAGTCGTGGCAAGTGTTCAAAACATTAGCTATTACCAT... | AGCCTGCTTTGTCCAAAAACCCCAAGTTCTAAACTTTGTATAACGTAGTCCCAGATTGATGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTTGCAGACTTCAGATGTTGGAATTATTAGTCGTGGCAAGTGTTCAAAACATTAGCTATTACCAT... | pathogenic | 95,880 |
Chromosome 5, position 95498627, gene SKIC3 (SKI3 subunit of superkiller complex): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTTGCAGACTTCAGATGTTGGAATTATTAGTCGTGGCAAGTGTTCAAAACATTAGCTATTACCATTATGTTTACCAACTAGTGAAGTGAACTATGAGAGGATATATTAACCACAGAAGTTAATA... | TGGACCTCCCAAGCACCCAGCAGAAGCAAGTACAAATTATTTCTGTAGAAAGGCACCTTAATTCTAGGCCTCAAATTATTCCTACAAATAATTTTCAAGTACACACAATTGGGTAAACAAAGAAACAAAGCCACCAAGAATGAAAATCAGTAGGAATAACGAACAAGACTCACAGATGTCAAACAAGTCTGTGGGTCTTGCAGACTTCAGATGTTGGAATTATTAGTCGTGGCAAGTGTTCAAAACATTAGCTATTACCATTATGTTTACCAACTAGTGAAGTGAACTATGAGAGGATATATTAACCACAGAAGTTAATA... | benign | 95,881 |
For chromosome 5, position 95507014, gene SKIC3 (SKI3 subunit of superkiller complex): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTGCACTCCAGCCTGGGTGACAAGAGAGAAACTCCATCTTAAAAAAAAAAGAGGGAGGAAAATATAAACTGTAATATATACTAAAGTGCAATACTTATTAATAACAGAAAAATAACTTGTTTTTGCCTAAAGATAAAAGGAACTTGTATAAGCTCAACTGCCATCATCTGAAGAGAAACACTATATCTTTGAGATTCTTCTTTCTGGTATCCATCACTATAACCTGAATCTGTTTTTATTTTTAATGTGTTGTGGAAATCTTTTTATAAAATCTTTTTAATCTTGGAGGATATGAATGGGGGCTAAAAATATAGGCAACC... | CTGCACTCCAGCCTGGGTGACAAGAGAGAAACTCCATCTTAAAAAAAAAAGAGGGAGGAAAATATAAACTGTAATATATACTAAAGTGCAATACTTATTAATAACAGAAAAATAACTTGTTTTTGCCTAAAGATAAAAGGAACTTGTATAAGCTCAACTGCCATCATCTGAAGAGAAACACTATATCTTTGAGATTCTTCTTTCTGGTATCCATCACTATAACCTGAATCTGTTTTTATTTTTAATGTGTTGTGGAAATCTTTTTATAAAATCTTTTTAATCTTGGAGGATATGAATGGGGGCTAAAAATATAGGCAACC... | benign | 95,887 |
Variant at chromosome 5, position 95516411, gene SKIC3 (SKI3 subunit of superkiller complex): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Trichohepatoenteric_syndrome_1'] | ATTTGGCAGTACAAAAATCTGAATTTGGGGGAGGAAAGAACACTCATAAACAAGTGACAAACCAAATATGAAGATTTTACAGAAACATAATATTCAAAATGATCTTTGTAAATGTGCATTTTCTTTGTACATGTGAGTTAAACAATAGAGTTCTGGGTTTATTTTTTAGGCACAGTAATGTCAGACTGGTAAGTGTTCAAAGGCCCCCCAAGTCAGAGTTAAATCCTTACAAGCTACGTGGCCTTAGGAATGACACTTAGGAGCTCTGAGTTTCTATTTCCACAACTATAAAGAGAGTATAACATCAACCATATCTCAAA... | ATTTGGCAGTACAAAAATCTGAATTTGGGGGAGGAAAGAACACTCATAAACAAGTGACAAACCAAATATGAAGATTTTACAGAAACATAATATTCAAAATGATCTTTGTAAATGTGCATTTTCTTTGTACATGTGAGTTAAACAATAGAGTTCTGGGTTTATTTTTTAGGCACAGTAATGTCAGACTGGTAAGTGTTCAAAGGCCCCCCAAGTCAGAGTTAAATCCTTACAAGCTACGTGGCCTTAGGAATGACACTTAGGAGCTCTGAGTTTCTATTTCCACAACTATAAAGAGAGTATAACATCAACCATATCTCAAA... | pathogenic | 95,894 |
Considering the variant on chromosome 5, location 95516753, involving gene SKIC3 (SKI3 subunit of superkiller complex), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGAAATAGTGTATACAAAGAGCTAAGCACAGTGACTGGCACAAAGTAAGCCCTCAAATGCTATCCGTTACCATTATTATCACTGTTATGCATATTAGTCAGTTATTGATATCAACAAGCTTATTAGTAACTATATGTTATATTTCTTACTTGTCCAATCCAGCACATTAAATAAGATGGATCAAGGGATTGAGCCATTTTGAAAGCCTCATGAGCTTGCTAGGAAAAAAAGGCAAAAAATATTACAGCAAGTCATTTTATAAACTTATTAAACCGCTTATGTTTAAAAAGCATAAAATAAGTCAAACCTCTCATCATAA... | CTGAAATAGTGTATACAAAGAGCTAAGCACAGTGACTGGCACAAAGTAAGCCCTCAAATGCTATCCGTTACCATTATTATCACTGTTATGCATATTAGTCAGTTATTGATATCAACAAGCTTATTAGTAACTATATGTTATATTTCTTACTTGTCCAATCCAGCACATTAAATAAGATGGATCAAGGGATTGAGCCATTTTGAAAGCCTCATGAGCTTGCTAGGAAAAAAAGGCAAAAAATATTACAGCAAGTCATTTTATAAACTTATTAAACCGCTTATGTTTAAAAAGCATAAAATAAGTCAAACCTCTCATCATAA... | benign | 95,896 |
A genetic alteration at chromosome 5, position 95516964, in gene SKIC3 (SKI3 subunit of superkiller complex)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Trichohepatoenteric_syndrome_1'] | TGAGCTTGCTAGGAAAAAAAGGCAAAAAATATTACAGCAAGTCATTTTATAAACTTATTAAACCGCTTATGTTTAAAAAGCATAAAATAAGTCAAACCTCTCATCATAAATATGTATGAACATAAAATTTCACTGTTTAAGCATAATTAGCAATGCTTAAAGCAGTGTTTTAACTACACAGTTCTGGAACACTCCTGGGTGCAACAGATTTCTCCCCAGGTTAGGAGTTCTGAACCCTAGCAAAAAAGGGTTCTACCTTGTCATCTGCAGAACTTTTAACCAACCAATCATCCATCCATTAGATAGCCATAGGTTTGAAG... | TGAGCTTGCTAGGAAAAAAAGGCAAAAAATATTACAGCAAGTCATTTTATAAACTTATTAAACCGCTTATGTTTAAAAAGCATAAAATAAGTCAAACCTCTCATCATAAATATGTATGAACATAAAATTTCACTGTTTAAGCATAATTAGCAATGCTTAAAGCAGTGTTTTAACTACACAGTTCTGGAACACTCCTGGGTGCAACAGATTTCTCCCCAGGTTAGGAGTTCTGAACCCTAGCAAAAAAGGGTTCTACCTTGTCATCTGCAGAACTTTTAACCAACCAATCATCCATCCATTAGATAGCCATAGGTTTGAAG... | pathogenic | 95,897 |
Chromosome 5, position 95525641, gene SKIC3 (SKI3 subunit of superkiller complex): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Trichohepatoenteric_syndrome'] | ATATTTTCATTTATATACTCAGGATAAAAAAAACAAAAAGCAAAAGTGATTATTAGACATACCATATCTTCAAGCTCCACACTTAGGTCAACTGCTGCAGCTCCAGATTCAGCATCAGTGTCATCTAATTCAAAGGCTTTCCTATAACATCCACGAGCTCTGTTTTTATCTCCCACTACGTCTCTATAATAATGACCTAAATAGCAGAAAACTTTGCCCATATATGTATCCAGTCTTGCAGCCTTTGAAATAAATATTGATAATAACAGAACATTAAAAGTTCATTTAATGAGTATCTTTACAAATACAGAAGATAAATA... | ATATTTTCATTTATATACTCAGGATAAAAAAAACAAAAAGCAAAAGTGATTATTAGACATACCATATCTTCAAGCTCCACACTTAGGTCAACTGCTGCAGCTCCAGATTCAGCATCAGTGTCATCTAATTCAAAGGCTTTCCTATAACATCCACGAGCTCTGTTTTTATCTCCCACTACGTCTCTATAATAATGACCTAAATAGCAGAAAACTTTGCCCATATATGTATCCAGTCTTGCAGCCTTTGAAATAAATATTGATAATAACAGAACATTAAAAGTTCATTTAATGAGTATCTTTACAAATACAGAAGATAAATA... | pathogenic | 95,908 |
Does the variant on chromosome 5 at location 95530120 affecting gene SKIC3 (SKI3 subunit of superkiller complex) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Trichohepatoenteric_syndrome'] | CCTCTGCTTTCAAATGAAGACAAAGATTCCTCTGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATA... | CCTCTGCTTTCAAATGAAGACAAAGATTCCTCTGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATA... | pathogenic | 95,909 |
The mutation impacting SKIC3 (SKI3 subunit of superkiller complex) on chromosome 5 at position 95530149: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Trichohepatoenteric_syndrome_1'] | CTCTGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATAAAACTGAATATCCTAAAAAACGACAATGG... | CTCTGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATAAAACTGAATATCCTAAAAAACGACAATGG... | pathogenic | 95,911 |
Chromosome 5, position 95530152, gene SKIC3 (SKI3 subunit of superkiller complex): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Trichohepatoenteric_syndrome_1'] | TGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATAAAACTGAATATCCTAAAAAACGACAATGGCTA... | TGATAAAGACTGTTACCAGACGCACCAAGATTATCTACGATCTTCAGAGCTGACAAAATTAAGGGTATCCAAATGAAGACAGCCATATCACTTCTGTTTATTTTTTCTTTTTTAAGGATGACATATAATAAATTGCAGATACAATAAGCATAAATTTCCAAAACAATATACATGAAGAATAACTCAAAGCTAAATATAAATTCTTCCCTGACTTCCTTATGGAAAGACCTGAATTTAAAACAGAACATATCTGAATTTAAAACCTCTATCTTCACACAACATATAATAAAACTGAATATCCTAAAAAACGACAATGGCTA... | pathogenic | 95,912 |
Determine if the mutation at chromosome 5, position 95547096 in gene SKIC3 (SKI3 subunit of superkiller complex) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Trichohepatoenteric_syndrome_1'] | CATTTGCATTTTCTAATTGGGTCTCTCTAGTATAAATTATTAACTATTTGGTGGAATTAATATCTGAATTTTGCAGAAAGTCTACAGGAAGAAGACAGCTATGGTGGTGCTGTATATAACTGAAACGTGCATCAATTAGATAAACCTAGTGCTGAAGGAAACAGTCCTTCTTCCCTTCTTGTATTCCATCCACAACCTGTCCCCACTTGGAACACACTGCCCACCTTCTTCTATATCAAGATTAATACTATCACGTCCTTGCATCCCTGCTGGGCTCCATCAGTCACCACCAGAAACCTAAACCTCACAAGGGTATCCTT... | CATTTGCATTTTCTAATTGGGTCTCTCTAGTATAAATTATTAACTATTTGGTGGAATTAATATCTGAATTTTGCAGAAAGTCTACAGGAAGAAGACAGCTATGGTGGTGCTGTATATAACTGAAACGTGCATCAATTAGATAAACCTAGTGCTGAAGGAAACAGTCCTTCTTCCCTTCTTGTATTCCATCCACAACCTGTCCCCACTTGGAACACACTGCCCACCTTCTTCTATATCAAGATTAATACTATCACGTCCTTGCATCCCTGCTGGGCTCCATCAGTCACCACCAGAAACCTAAACCTCACAAGGGTATCCTT... | pathogenic | 95,918 |
Does the genetic variant at chromosome 5, position 96410844, impacting gene CAST, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Body_mass_index_quantitative_trait_locus_12', 'Obesity_due_to_prohormone_convertase_I_deficiency'] | TTGAACTACTTGCACAAAAAATGCTTAATATGTAGTTTGCACTCACTGTTGAACTAGATTTGATACCTGTGAGTTGGTGTCCACATTTACACTTTGAGGAAAACGATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAAC... | TTGAACTACTTGCACAAAAAATGCTTAATATGTAGTTTGCACTCACTGTTGAACTAGATTTGATACCTGTGAGTTGGTGTCCACATTTACACTTTGAGGAAAACGATGGGTCTTTAAAATGGAAAGTGTGCTGGACTTAGTTCTGGGTTCAAATTCTCTAACTGCTACTTAATAGATTTGTCCTCGGGCAAGTCATTTGGCTCCCCATCTGTAAAATGCGATTTATATTTTCTGACTCATATGCGAGACTTACCCGAGATGTTCTCTGTGAAAGTAGTTTTACATAATTTTCTTGCAAGTAAGGAATTACCCTGGCTAAC... | pathogenic | 95,926 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 96765327, gene CAST: what disease(s) if pathogenic? | benign | AGCTCTACCATTAGCAGCTATAATCCTGGATTATAATAAAGCACTTAAAACCAGTAAAATGCCCCGTGTGTGTGTATGTGCATGTGCATGTGCATGTGTGTATGTAAACACACCCACAATGAAGAAAGTCCCCATGCAACAGAAAGGAAGAATCATTAATAGCCTAGGCTGCCGTTTACACTTCAGTTCTTAATATTCAGGCCAGAGATTCTGCCCTGATGAAGGCTATCAGTAAACATTTGCAATCAAAAACTTTTTTGCCTTTAAGAAGTAGGTTTTACAATGACACTTCTCTGATCACATTTCCCATCAGAGAGGCT... | AGCTCTACCATTAGCAGCTATAATCCTGGATTATAATAAAGCACTTAAAACCAGTAAAATGCCCCGTGTGTGTGTATGTGCATGTGCATGTGCATGTGTGTATGTAAACACACCCACAATGAAGAAAGTCCCCATGCAACAGAAAGGAAGAATCATTAATAGCCTAGGCTGCCGTTTACACTTCAGTTCTTAATATTCAGGCCAGAGATTCTGCCCTGATGAAGGCTATCAGTAAACATTTGCAATCAAAAACTTTTTTGCCTTTAAGAAGTAGGTTTTACAATGACACTTCTCTGATCACATTTCCCATCAGAGAGGCT... | benign | 95,944 |
Determine if the mutation at chromosome 5, position 110739129 in gene SLC25A46 (solute carrier family 25 member 46) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'Neuropathy,_hereditary_motor_and_sensory,_type_6B', 'Pontocerebellar_hypoplasia,_type_1E'] | TATATTTGACAGGATATATTTATCTGTTCTTTGTCTCCCTAAACTAGAATGTCAGTTCTAACAATGCAAGCACCTTGTCTGGCTTATTTATCATTCTATCCTTATTGCTTAAAATAGTATCTGACACGAGATAGGTGCTTAATAAATATATTTTTGTTAAACAACTGTATGGATATACACTTTAAATAATAAATTATTAATCAATAATAATTATTTGATATTTGCATTCCTGCTTATTTTTTTCCTATTATGAGCAAGCATGCCATAAACATATGTATGTTATCCATGCCAGAAACATGTAAAAAACCCCTATATTTGTT... | TATATTTGACAGGATATATTTATCTGTTCTTTGTCTCCCTAAACTAGAATGTCAGTTCTAACAATGCAAGCACCTTGTCTGGCTTATTTATCATTCTATCCTTATTGCTTAAAATAGTATCTGACACGAGATAGGTGCTTAATAAATATATTTTTGTTAAACAACTGTATGGATATACACTTTAAATAATAAATTATTAATCAATAATAATTATTTGATATTTGCATTCCTGCTTATTTTTTTCCTATTATGAGCAAGCATGCCATAAACATATGTATGTTATCCATGCCAGAAACATGTAAAAAACCCCTATATTTGTT... | pathogenic | 95,959 |
Clinical classification of chromosome 5, position 111094907, gene WDR36 (WD repeat domain 36): benign or pathogenic? Disease(s) if pathogenic? | benign | TTGTATGGCAGTAATATTTGTTCAGTGAATATTTATTGACCTTCCCTTGAAGGTGGAAACATAATTAAGACAAACCTCTACCTCTTGCATTCTTAATGAGAGAGAAAAACATGCACGCTATTACGTTATTGGTGACACGAGCTGAGTTAGAAATTCACTCTAGGTAGAATACATTGGGAGAACCGGAGATGGTGAGATTAATTACCGTTAGGGAAAATATCTAATAGCAATCAGTTATTTTCAACTAACGCAAAGTGTCTGGCACTGTCACTCTAAGCCTTGCAGCCGTTTCTTTGCAACATAGGTGTCATTATACCGTA... | TTGTATGGCAGTAATATTTGTTCAGTGAATATTTATTGACCTTCCCTTGAAGGTGGAAACATAATTAAGACAAACCTCTACCTCTTGCATTCTTAATGAGAGAGAAAAACATGCACGCTATTACGTTATTGGTGACACGAGCTGAGTTAGAAATTCACTCTAGGTAGAATACATTGGGAGAACCGGAGATGGTGAGATTAATTACCGTTAGGGAAAATATCTAATAGCAATCAGTTATTTTCAACTAACGCAAAGTGTCTGGCACTGTCACTCTAAGCCTTGCAGCCGTTTCTTTGCAACATAGGTGTCATTATACCGTA... | benign | 95,982 |
A genetic variant on chromosome 5, position 111102301, affects the gene WDR36 (WD repeat domain 36). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAATTACAGAAACATGAATGCTAATCCTTAGGATCTTTTTTTTTTAACTTTATTATCCTTTTCTGTAAAGTAATTCAAAAGTGAATGAAACTTTTAATAGTATTTTTATTAGAAGTTACAGAAAATTTTTGACAGTCTAAATTAAATTACATTTACAAGTTGCCTCTCATTTATTTTATTTCTCAAGGAATGTTTATAGATTAGTATCTAAGTCTGTGGTTTATTTTAACATATAAATCTTTGATGTGATAGACTTACTTTAAGTGATAAATATATGGTTACATAAAACATTTTAAACTATTTTATAAAAAATATTTATA... | AAATTACAGAAACATGAATGCTAATCCTTAGGATCTTTTTTTTTTAACTTTATTATCCTTTTCTGTAAAGTAATTCAAAAGTGAATGAAACTTTTAATAGTATTTTTATTAGAAGTTACAGAAAATTTTTGACAGTCTAAATTAAATTACATTTACAAGTTGCCTCTCATTTATTTTATTTCTCAAGGAATGTTTATAGATTAGTATCTAAGTCTGTGGTTTATTTTAACATATAAATCTTTGATGTGATAGACTTACTTTAAGTGATAAATATATGGTTACATAAAACATTTTAAACTATTTTATAAAAAATATTTATA... | benign | 95,989 |
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