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 |
|---|---|---|---|---|---|
Variant in gene DCHS1 (dachsous cadherin-related 1), located at chromosome 11 position 6641514: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGTCTTCTTTGGGGAACAGAAGCCACATACGTATGTAGAATCTCCATCTCTGCCCTGCAGAACAGCTTTGAGGCTTTCATTTCCTGACACCACAAATCATTTCTCCACTAGATCCAATCTTAATTTCCTCACCTGCCAAGACCATCTGCCTCAGCTCTTGCACCCTGCTTTCTCATCTTCTCATTAACCCTCATCCTCTGCACAGATTTTGGAGCTTACAACATAGGGCAGAACCCTCTAGCATAAGTCACCATCAACAGATGACCTTGTAAGGCTTGGTTCCTGCTCTGAGGTCCCCTGTGGCTCTCAGATTCCCCCAA... | TGTCTTCTTTGGGGAACAGAAGCCACATACGTATGTAGAATCTCCATCTCTGCCCTGCAGAACAGCTTTGAGGCTTTCATTTCCTGACACCACAAATCATTTCTCCACTAGATCCAATCTTAATTTCCTCACCTGCCAAGACCATCTGCCTCAGCTCTTGCACCCTGCTTTCTCATCTTCTCATTAACCCTCATCCTCTGCACAGATTTTGGAGCTTACAACATAGGGCAGAACCCTCTAGCATAAGTCACCATCAACAGATGACCTTGTAAGGCTTGGTTCCTGCTCTGAGGTCCCCTGTGGCTCTCAGATTCCCCCAA... | benign | 172,118 |
Gene DCHS1 (dachsous cadherin-related 1) variant at chromosome 11, position 6641514—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TGTCTTCTTTGGGGAACAGAAGCCACATACGTATGTAGAATCTCCATCTCTGCCCTGCAGAACAGCTTTGAGGCTTTCATTTCCTGACACCACAAATCATTTCTCCACTAGATCCAATCTTAATTTCCTCACCTGCCAAGACCATCTGCCTCAGCTCTTGCACCCTGCTTTCTCATCTTCTCATTAACCCTCATCCTCTGCACAGATTTTGGAGCTTACAACATAGGGCAGAACCCTCTAGCATAAGTCACCATCAACAGATGACCTTGTAAGGCTTGGTTCCTGCTCTGAGGTCCCCTGTGGCTCTCAGATTCCCCCAA... | TGTCTTCTTTGGGGAACAGAAGCCACATACGTATGTAGAATCTCCATCTCTGCCCTGCAGAACAGCTTTGAGGCTTTCATTTCCTGACACCACAAATCATTTCTCCACTAGATCCAATCTTAATTTCCTCACCTGCCAAGACCATCTGCCTCAGCTCTTGCACCCTGCTTTCTCATCTTCTCATTAACCCTCATCCTCTGCACAGATTTTGGAGCTTACAACATAGGGCAGAACCCTCTAGCATAAGTCACCATCAACAGATGACCTTGTAAGGCTTGGTTCCTGCTCTGAGGTCCCCTGTGGCTCTCAGATTCCCCCAA... | benign | 172,119 |
Clinical significance of chromosome 11, position 9781493, gene SBF2: benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTAAAGACAGTTCTTACTTTTCATGTGTAGAAGTGTAGTTTGGGTATCCAGTCATGCCACAGTGTGACTGTGGTCAACACAGCCCTTGTCACAGGTGCGTATGGTCCTAAATAGCTGGCCTCTGTCTTTCCAACATCTTCACTTCATTGGGAATTCAGTGCAAGTGTTTGTTTTGTGAGTTAGTGCATTCAGCTTTTTTTGCATGTTATTTTGAAAAAGAAGCTGTCAGGAAGCAGAAGATACATAAGAACACAAGGCCCTGGATCCTCAGAGCACCTCTGGTCTAGAGAATTCAGTGTTTTGGAAGTAGTGTTTTCCT... | TCTAAAGACAGTTCTTACTTTTCATGTGTAGAAGTGTAGTTTGGGTATCCAGTCATGCCACAGTGTGACTGTGGTCAACACAGCCCTTGTCACAGGTGCGTATGGTCCTAAATAGCTGGCCTCTGTCTTTCCAACATCTTCACTTCATTGGGAATTCAGTGCAAGTGTTTGTTTTGTGAGTTAGTGCATTCAGCTTTTTTTGCATGTTATTTTGAAAAAGAAGCTGTCAGGAAGCAGAAGATACATAAGAACACAAGGCCCTGGATCCTCAGAGCACCTCTGGTCTAGAGAATTCAGTGTTTTGGAAGTAGTGTTTTCCT... | benign | 172,253 |
Evaluate the clinical significance of the mutation at chromosome 11, position 9784415 in gene SBF2: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'SBF2-related_disorder'] | AAAAGATGATCAACCTCATTAATCAAAGAAAAATAAATGACAATAAATGAGATTTCACTTTTGGATTGAGAAATATTAAAAATGGCTGATGATATCCAATAAGGTACTAGATCATCTCAAATACTGCCAGTGTGAATATAATTTGTTAGAAATTTTTTGGAGAACAATTTGGCAATATCAACTAAAATTTAGAATGTTTATGCCTATTGAAACATCTTTCCAGGCCGGGCACGGTTGCTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAAT... | AAAAGATGATCAACCTCATTAATCAAAGAAAAATAAATGACAATAAATGAGATTTCACTTTTGGATTGAGAAATATTAAAAATGGCTGATGATATCCAATAAGGTACTAGATCATCTCAAATACTGCCAGTGTGAATATAATTTGTTAGAAATTTTTTGGAGAACAATTTGGCAATATCAACTAAAATTTAGAATGTTTATGCCTATTGAAACATCTTTCCAGGCCGGGCACGGTTGCTCATGCCTGTAATCCTAACACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAAT... | pathogenic | 172,256 |
Does the variant on chromosome 11 at location 9832209 affecting gene SBF2 (SET binding factor 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAGCAAAACAGAATCACTGAAATCGGCCCAGACAGTTTAAAGAGGACAGGGGATGGACTCACTACAAGGACAACAGATATTCATAAATTTTCTTACAACTTGAATAGAAAATAAATAATTAGCATTATTGTATTTTATCAACTTTAATATGTCATCAATTCTAAGACGCACTGTTATTTTATTGCCTAACAATAAAAACTGCTTATCAATTAAAAAACTGCCATTTAAACTATGACACTATTCTTTCTGATCACATCAATTGTAAGATGCATTGCAATTTCAAAGATACTAGTTGTCAGCCAGGCGCAGTGGTTCACGTC... | AAGCAAAACAGAATCACTGAAATCGGCCCAGACAGTTTAAAGAGGACAGGGGATGGACTCACTACAAGGACAACAGATATTCATAAATTTTCTTACAACTTGAATAGAAAATAAATAATTAGCATTATTGTATTTTATCAACTTTAATATGTCATCAATTCTAAGACGCACTGTTATTTTATTGCCTAACAATAAAAACTGCTTATCAATTAAAAAACTGCCATTTAAACTATGACACTATTCTTTCTGATCACATCAATTGTAAGATGCATTGCAATTTCAAAGATACTAGTTGTCAGCCAGGCGCAGTGGTTCACGTC... | benign | 172,313 |
Chromosome 11, position 9832437, gene SBF2 (SET binding factor 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTATGACACTATTCTTTCTGATCACATCAATTGTAAGATGCATTGCAATTTCAAAGATACTAGTTGTCAGCCAGGCGCAGTGGTTCACGTCTGTAATCCCAGCACTTAGGAAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTTGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTC... | ACTATGACACTATTCTTTCTGATCACATCAATTGTAAGATGCATTGCAATTTCAAAGATACTAGTTGTCAGCCAGGCGCAGTGGTTCACGTCTGTAATCCCAGCACTTAGGAAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTTGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCATTGCACTC... | benign | 172,316 |
Evaluate if the mutation on chromosome 11 at position 9850233 in SBF2 is benign or pathogenic. Disease name(s) if pathogenic? | benign | TATCAATCTGTAATCTAGAAAAATTCTGACTATATTCTTACATCAAGCTCATATCCAGAGGCTAAGCAAAGTCAGGATGTACATAGGATTTAAGTTCTAGGATGTATTTAACACCTACATTTATATAACATGTAAAATTATAATATTTCTATGTGTCATCAAAGGATAAATTTTAAATTAGAAATTTAAAAGGAAATAAAAAGATTTTCTTTGACAAAAATAATTTTCCTAAGTGAAATTAATTCAAAATTTGAAAGGAAAAGGCAGAGAATATGAGATTTCACACTAAGCATACTTTAAAATAAATAAATTACAGCAAT... | TATCAATCTGTAATCTAGAAAAATTCTGACTATATTCTTACATCAAGCTCATATCCAGAGGCTAAGCAAAGTCAGGATGTACATAGGATTTAAGTTCTAGGATGTATTTAACACCTACATTTATATAACATGTAAAATTATAATATTTCTATGTGTCATCAAAGGATAAATTTTAAATTAGAAATTTAAAAGGAAATAAAAAGATTTTCTTTGACAAAAATAATTTTCCTAAGTGAAATTAATTCAAAATTTGAAAGGAAAAGGCAGAGAATATGAGATTTCACACTAAGCATACTTTAAAATAAATAAATTACAGCAAT... | benign | 172,331 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 9850233, gene SBF2: what disease(s) if pathogenic? | benign | TATCAATCTGTAATCTAGAAAAATTCTGACTATATTCTTACATCAAGCTCATATCCAGAGGCTAAGCAAAGTCAGGATGTACATAGGATTTAAGTTCTAGGATGTATTTAACACCTACATTTATATAACATGTAAAATTATAATATTTCTATGTGTCATCAAAGGATAAATTTTAAATTAGAAATTTAAAAGGAAATAAAAAGATTTTCTTTGACAAAAATAATTTTCCTAAGTGAAATTAATTCAAAATTTGAAAGGAAAAGGCAGAGAATATGAGATTTCACACTAAGCATACTTTAAAATAAATAAATTACAGCAAT... | TATCAATCTGTAATCTAGAAAAATTCTGACTATATTCTTACATCAAGCTCATATCCAGAGGCTAAGCAAAGTCAGGATGTACATAGGATTTAAGTTCTAGGATGTATTTAACACCTACATTTATATAACATGTAAAATTATAATATTTCTATGTGTCATCAAAGGATAAATTTTAAATTAGAAATTTAAAAGGAAATAAAAAGATTTTCTTTGACAAAAATAATTTTCCTAAGTGAAATTAATTCAAAATTTGAAAGGAAAAGGCAGAGAATATGAGATTTCACACTAAGCATACTTTAAAATAAATAAATTACAGCAAT... | benign | 172,332 |
Located at chromosome 11 position 9989485, the variant affecting gene SBF2 (SET binding factor 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAAATAAAGGGCATCTAAATCGGTAAAGAGGAAGTAAAACTGTCACTGTTTGCTGACGGTTATAATCATTTACCTTGAAAACCCCAAGGACTCCTCTAGAAAGCTCCTAGAACTGATAAAAGAATTCAGCAAAGTTTCCGGATCTGAGATTAATGTACACAAATCAGAAGCTCTTCAATAAACCAACAGCGACCAAGCAGAGAACCAAATCAAGAACTCAACCCCTTTACAATAGCTGCAAAAAAGTTAAAATCCTTAGTAATATATTTAACAAAGGAGTCCAAAGACCGCTACATGGAAAACTACAAAACACTGCTGAA... | GAAATAAAGGGCATCTAAATCGGTAAAGAGGAAGTAAAACTGTCACTGTTTGCTGACGGTTATAATCATTTACCTTGAAAACCCCAAGGACTCCTCTAGAAAGCTCCTAGAACTGATAAAAGAATTCAGCAAAGTTTCCGGATCTGAGATTAATGTACACAAATCAGAAGCTCTTCAATAAACCAACAGCGACCAAGCAGAGAACCAAATCAAGAACTCAACCCCTTTACAATAGCTGCAAAAAAGTTAAAATCCTTAGTAATATATTTAACAAAGGAGTCCAAAGACCGCTACATGGAAAACTACAAAACACTGCTGAA... | benign | 172,366 |
The mutation impacting SBF2 (SET binding factor 2) on chromosome 11 at position 10042994: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TACCCAAGAATTCCTAGAACCTATTTATAAACATCTGCCATTAATATAATGTCAATATATTGCCTTTCTGTCAGTTTGTCTAGAAGAAGAGGGGTGAATAGTGAAGAGGGAGAATCTAAATAATTATAGTTAGTTTCATTAGATAATTCCAAAGAGTTGTGAAGCGATACCCTCAAGAATATGGAAATAACAGAATATACTGAATTCTCAGCATTAACTTAAATGCTAAAGATCAACAGAGAAACGAAAGGCCAATAAAAGAGACAGAGTGGTTCTTGGGCTAGAGAACACTCTCTAACTTATTCAGATTGAACTGATAA... | TACCCAAGAATTCCTAGAACCTATTTATAAACATCTGCCATTAATATAATGTCAATATATTGCCTTTCTGTCAGTTTGTCTAGAAGAAGAGGGGTGAATAGTGAAGAGGGAGAATCTAAATAATTATAGTTAGTTTCATTAGATAATTCCAAAGAGTTGTGAAGCGATACCCTCAAGAATATGGAAATAACAGAATATACTGAATTCTCAGCATTAACTTAAATGCTAAAGATCAACAGAGAAACGAAAGGCCAATAAAAGAGACAGAGTGGTTCTTGGGCTAGAGAACACTCTCTAACTTATTCAGATTGAACTGATAA... | benign | 172,400 |
Considering the genetic mutation at chromosome 11, position 14294582, impacting RRAS2 (RAS related 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACATCAATAAATATAATCAGGTTTAGAAACCTCAAGGAAATGGTCTTAAAAAAAAACAAAATTAAATCTAAAAAAAATAGATGAACTGTCTATGCTAGGTTTATAATGTAAGCAATGCCATATTCTTAATTATTTCAAACAGTTTATATTGATTTGAAATGAAGAACAAATTTTTTCACTCTAACTTTATAACCAGATTTGAACGAGATTTAGCAGGAAAATTTATTCTATACCAAGTTTCATCAGTGGACATTTCCAAATCTTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAA... | ACATCAATAAATATAATCAGGTTTAGAAACCTCAAGGAAATGGTCTTAAAAAAAAACAAAATTAAATCTAAAAAAAATAGATGAACTGTCTATGCTAGGTTTATAATGTAAGCAATGCCATATTCTTAATTATTTCAAACAGTTTATATTGATTTGAAATGAAGAACAAATTTTTTCACTCTAACTTTATAACCAGATTTGAACGAGATTTAGCAGGAAAATTTATTCTATACCAAGTTTCATCAGTGGACATTTCCAAATCTTAGCATTAAGATAATATATCATTTTCTTGGGCCAGGCATTGTGGCTCATGCCTGTAA... | benign | 172,512 |
Mutation found at chromosome 11 position 14358792, gene RRAS2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Noonan_syndrome', 'Noonan_syndrome_12'] | TGGAGGTATTTCTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG... | TGGAGGTATTTCTTCAACAAATGATTCTATAAATTATTAGGAAAACGGCAATTAATGCTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCGCTCTGTTGCCCAGGCACAATCTCGGCTCACTACAATCTCCGCCTCCCGGGTTCAAGCGATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATATTGGCCAGGCTGGTCTGGAACTCCTGACCTCGTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG... | pathogenic | 172,516 |
Is the genetic variant on chromosome 11, position 14879323, gene PDE3B, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Vitamin_D_hydroxylation-deficient_rickets,_type_1B'] | TTTTGGATTTGAATATAATTATCTTTAGAAAAATAACACTAACCCATGGAAATGCCTAGAGACCTCTAAAAGATATAAGTGAATTCGATCTTTAATCCTTGTGATTGGTTTTAGAAAGAAGTGGTGCCAGGGAAAATGTGCCAACAAAGATTCAATAGCCATTTATCATTTTAAATTTTAAATATATTATTGTAATGTCCTATCTACTTAACTGCTATGAAGATGGACACTCAGGGTCACACAGACCCTCATTTATAAGAAGAATGACACAGTTCTTATGAAGACAGAGCAGGAAGCAAGATATGAAAGCACTGGCAGGC... | TTTTGGATTTGAATATAATTATCTTTAGAAAAATAACACTAACCCATGGAAATGCCTAGAGACCTCTAAAAGATATAAGTGAATTCGATCTTTAATCCTTGTGATTGGTTTTAGAAAGAAGTGGTGCCAGGGAAAATGTGCCAACAAAGATTCAATAGCCATTTATCATTTTAAATTTTAAATATATTATTGTAATGTCCTATCTACTTAACTGCTATGAAGATGGACACTCAGGGTCACACAGACCCTCATTTATAAGAAGAATGACACAGTTCTTATGAAGACAGAGCAGGAAGCAAGATATGAAAGCACTGGCAGGC... | pathogenic | 172,530 |
Regarding the variant at chromosome 11 and position 14880367, affecting gene PDE3B: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CYP2R1-related_disorder', 'Vitamin_D_hydroxylation-deficient_rickets,_type_1B'] | AATAATTTTTTAAACCCACAATCTTTACCAAAATTAATGTCTAATATTTGGATGTCATTCAGGAAATCTGGAATTTAAACAAAGAAAGAGGGAACTATGTTTATTAAAGGATTTTCTTAAATCTCAAAGAATAGAAATTGACACTTCAGCAAGCAGAACCCATTCATTTACCTCCTTTTGTTAGACCACGGACTTTTGTAAGACTTTAGTTCCATCTCCCACTTCCCTCCTATGCTGCAACAGAGCCTAAGATATGCCACAAAAGATCTAATTTGAGGTGAGACATTTTGCTCAAGAACAGTCCACTTCATTTCAACTAA... | AATAATTTTTTAAACCCACAATCTTTACCAAAATTAATGTCTAATATTTGGATGTCATTCAGGAAATCTGGAATTTAAACAAAGAAAGAGGGAACTATGTTTATTAAAGGATTTTCTTAAATCTCAAAGAATAGAAATTGACACTTCAGCAAGCAGAACCCATTCATTTACCTCCTTTTGTTAGACCACGGACTTTTGTAAGACTTTAGTTCCATCTCCCACTTCCCTCCTATGCTGCAACAGAGCCTAAGATATGCCACAAAAGATCTAATTTGAGGTGAGACATTTTGCTCAAGAACAGTCCACTTCATTTCAACTAA... | pathogenic | 172,534 |
The genetic variant at chromosome 11, position 14880506, affecting gene PDE3B: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Vitamin_D_hydroxylation-deficient_rickets,_type_1B'] | GACACTTCAGCAAGCAGAACCCATTCATTTACCTCCTTTTGTTAGACCACGGACTTTTGTAAGACTTTAGTTCCATCTCCCACTTCCCTCCTATGCTGCAACAGAGCCTAAGATATGCCACAAAAGATCTAATTTGAGGTGAGACATTTTGCTCAAGAACAGTCCACTTCATTTCAACTAAGTGTGTATTCTTCTCCAGTGAAGGGGAAGAGTTTCTAGTCCATCTTCCATGGGTCTTGTGTACCTTTTCACAGAAGAAGCAATATTTTCCTAATTGAAGATGAAGTACAATAACCAGAAGCCAAGAGAGTGAGATTCTA... | GACACTTCAGCAAGCAGAACCCATTCATTTACCTCCTTTTGTTAGACCACGGACTTTTGTAAGACTTTAGTTCCATCTCCCACTTCCCTCCTATGCTGCAACAGAGCCTAAGATATGCCACAAAAGATCTAATTTGAGGTGAGACATTTTGCTCAAGAACAGTCCACTTCATTTCAACTAAGTGTGTATTCTTCTCCAGTGAAGGGGAAGAGTTTCTAGTCCATCTTCCATGGGTCTTGTGTACCTTTTCACAGAAGAAGCAATATTTTCCTAATTGAAGATGAAGTACAATAACCAGAAGCCAAGAGAGTGAGATTCTA... | pathogenic | 172,536 |
Considering the variant on chromosome 11, location 16046636, involving gene SOX6 (SRY-box transcription factor 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Tolchin-Le_Caignec_syndrome'] | AATCCATTAGTGCTGTCCTTCATTTATTCTTCTGACTTGAACTAATCTAGCAAGCAATCATAGATACTGATTCTAGATACTAAACAAAGCCTACAAGAATCACAAAATATATGTGCAAAACAGTAACATTATGCAGGAGAGAGACCATGTTAAGGAGAGCTCATGAACACAACATCCCTAGTAATGAACTTTTCCCATGCCCCAAATTCAACCCCAGTAAGGTTGTCTACTGAGAAAACAGCTCCCTTCAACTTGGAAACCAGGGTTTTCTGGTTCCATTGAAACAATTTTGCAGCTTACCTTCTGGGACTCAGTTATAT... | AATCCATTAGTGCTGTCCTTCATTTATTCTTCTGACTTGAACTAATCTAGCAAGCAATCATAGATACTGATTCTAGATACTAAACAAAGCCTACAAGAATCACAAAATATATGTGCAAAACAGTAACATTATGCAGGAGAGAGACCATGTTAAGGAGAGCTCATGAACACAACATCCCTAGTAATGAACTTTTCCCATGCCCCAAATTCAACCCCAGTAAGGTTGTCTACTGAGAAAACAGCTCCCTTCAACTTGGAAACCAGGGTTTTCTGGTTCCATTGAAACAATTTTGCAGCTTACCTTCTGGGACTCAGTTATAT... | pathogenic | 172,557 |
Mutation at chromosome 11, position 17387931, within KCNJ11 (potassium inwardly rectifying channel subfamily J member 11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_2'] | AACGGAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGC... | AACGGAGAAGGCAGAGTTCTAGGCAAGTTCACACAACACTGCTCCAAGGGTCCAGGCACGGGTCAAACCCGTCAGGACCAAGGGCCTCTTCACCTCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGC... | pathogenic | 172,620 |
The genetic variant at chromosome 11, position 17388025, affecting gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11): benign or pathogenic? Disease name(s) if pathogenic? | benign | TCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCG... | TCAGGGACCTCAGTCCCTCCCACCATCCTGAACCTTCCCACACCTTTTCCAGCAACCCAAAGATATCCACCCCCAAGCCACCTTCTGGACAAAGTGAGTGGCAGCCACTGTTGTGGAGCCAGGACCAGAGTTGGGTCTGAGGCCTAATCATGTGTGGTGGGCACAGTACCCCCTCTCCTCAGCCTCTGGGGACAGGCAGGAGGTAGGCAGGGGCAGCAGCCCCAGCCCACAGAGCCCTCACTGCACGAGGCCGATGTGGCAAAAGGCAGGAGCCCTGGCATCTCCTCCTCCCTGTGCCTGAGCGGGGCTCTACAAAGCCG... | benign | 172,627 |
Evaluate this variant at chromosome 11, position 17388597, gene KCNJ11 (potassium inwardly rectifying channel subfamily J member 11): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATAC... | CAGCAGCCCTCGGGGATTGTTCTTCCCCAGCCACCGGCCCAGAGTGTGGCTGGTCAATCGTGGGGACCCAGGACTGGCTGGACGCACAGCTCTAGGGCCCAGTACCTCCCACAGCCTCTGCAGCCTTGGGCGGGGGAGAGGGGTGAGCCAGTCCTGAATTGGGTTGGGAGGAGCAGGGACAAAAATAACCCAGTACAGGTTCCTGCTGAGGCCAGAAATAGCATAGTGACAAGTGCCTTGTAACACCCTGGATGAGCAGCAGGGGGAGGCTGAGCTGAGGCTGGCCCAGCCTCACACCAGGCCCTGGCCGGGCTACATAC... | benign | 172,628 |
Clinically, how would you classify the variant at chromosome 11, position 17395260, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Neonatal_diabetes_mellitus', 'Type_2_diabetes_mellitus'] | GCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCA... | GCTTGGAGGAGGAGGATGAGGCATGTGGCCAGAATGTCCTGTCACTGTGGGGACTGCACTTTCCTGGGGTGGATGTGACTACAAGCTCTCCATCTGCTAATACCACCCTTCTCTCCTCTCCAAGTCCCAACTCTACCCCACCTCCAGGCTTCAAGGCTCAGAGACCCTCCACAACCCCTCCCCCACTTCCTATGGAGAAGTAACGCCAGCCTAACATATAAGGCCTTGGGACAGGGGCAGGCCTTGGAACCTGGAGAAGGAGAGGGGAGGTCTGAGGGAAGCACAGGGGCAAAACCCCCCACCCCAAATCCTGCAACCCA... | pathogenic | 172,659 |
Gene ABCC8 (ATP binding cassette subfamily C member 8) variant at chromosome 11, position 17395628—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_hyperinsulinism', 'Type_2_diabetes_mellitus'] | GGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTG... | GGGTTCTTTCTTGATTACTGGGACCAGGCAAGCCCAGGGGCTGTGCACTGATGACGGCCACAACAGGCCAGTCCTGTCCCTGGGTGTCCCTCTGCACCCCATCAATGGGCCCCTTACCGCGATGGTGACCACAGTGCGGTCTGCGAAGGCTGTCATCACCACCTTTTGGAGGATGTTTTCCTGCCAAGTGGGGGCAACAGCTGTTGGCTCACCTGCCCAGTGGATGGGGTCTGGCCTGGCTTGGGGGATGTGGAGCCCAGGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTG... | pathogenic | 172,664 |
Gene ABCC8 (ATP binding cassette subfamily C member 8) variant at chromosome 11, position 17395887—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['ABCC8-related_disorder', 'Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Familial_hyperinsulinism', 'Hereditary_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Maturity_onset_diabetes_mellitus_in_young', 'Type_2_diabe... | GGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTG... | GGTCTGTGGCTCAGCTCCCATCTGACCCCGATCCTAGTCCCACCCCCACCCCACAGGACTGAACAGGTTCCCGGCACTCAGGGACTGGACTCAGCCTGTTGGGAGCTCAGCTCTGTGTGTGTATGTAGGTTGTGGTTGTGGCTGTGTGTGTGCTGTTGTGATAGGTGACAGTGTGAAGTCTGTGTGGGTCTGTGTGTGCAGCTTATGTGTGTGTTTGCATAGTGTTTTTGTGTGTGCGTGTGTGTGTGTAACATTCCCTAAGACTAGACAGAGTCAGGGTCCCCCCAGCTCTTTTCATTTTCTGCAACACATAGCATTTG... | pathogenic | 172,673 |
Variant at chromosome position 17397722, chromosome 11, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Type_2_diabetes_mellitus'] | GCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGC... | GCAGCGGCAGTTTGGCGATGTCAATGCCATCAATGATGATGTGCCCTGCATGGGTCCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGC... | pathogenic | 172,696 |
Is the variant located on chromosome 11 at position 17397777, gene ABCC8 (ATP binding cassette subfamily C member 8), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1'] | CCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGG... | CCCAGTGAGGGTGCAGGGGAAGGCGGTGACTGCTGGGCCTCCTGTCATGTCTGACCACGTGCCAGGGCTGAGGCCTCATCTGGTGGCTGTGGGTACACGTGGGGTGCCCGCCTTACAACTCACCTTCGAACGTGTCCACCATGCGGAAGAAGGCAAGAGAGAAGGAGGACTTCCCACTGCCGGTGCGGCCGCAGATCCCGATCTGGAAAGAGAGAAGCAGGCACCGCCACTGGGACTCTGGGGCTGCTGGGAATAGCCTCTATGCTAGCTCTGGGTGTGTGTGCAGGTGTGGGAGGTCACAGGGTATCTTTTTGGCCTGG... | pathogenic | 172,698 |
The mutation in gene ABCC8 (ATP binding cassette subfamily C member 8) at chromosome 11, position 17402736—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Familial_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | GCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGT... | GCAAACCTGGGTTCCAAGCTCAGCGCCAGCCCCCGCAGTCTGTGTGACCTTGGATTGATTACCCAGCCTCTCTGGGTCTCGCTTCTGCATCTGGAGAATGTGGCGATTCGTACCTATGTTATGTGGTCCTTGTGAGGATTAAATGTAATAATGCACATACAACACTTAGCACGGTGCCTGGCATACAGTAAGTGGGCAATCAATAAGTGCTAATAGCTCTCAACAGGCTGCTGGATTAAAGCCAATGCATTAAATGTGTATGGGGTTGATTAAAAAGCCTTTCATTCAAATTTAAAAATCATTCACCGTGTCAGTAGGGT... | pathogenic | 172,706 |
Variant at chromosome 11, position 17404499, gene ABCC8 (ATP binding cassette subfamily C member 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | CTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGA... | CTGGAATTTTCCTCTCTAGAACATTCAGTGGGAGCCCACCTGGCCTGTCCCTGCTGGTGGATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGA... | benign | 172,708 |
Does the variant impacting ABCC8 (ATP binding cassette subfamily C member 8) on chromosome 11, position 17404559, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Familial_hyperinsulinism', 'Hereditary_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | ATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCT... | ATATCCCTTGGGCCTTGGGACCTGAGGCAGCTTGAGAGAGAACGTGTCCTTGGCCTTCCCAAGTGGAGTCCTGAGAATCAAATCTCATGGCCTGTGCCCCCTGGCCCCACCCCTGTTCCACTCCTACCTTGGGGGAATGTGGACTCGTACCTGAAGGCCCGGATGGTGGTGAGTCCTTCTACGGTTTCGGCAAAGTGTGAGAGAAGTGGAAGCTGGGTGGTGTCATCCAGCTGCTGCAGGTCCCTGTGGCGGGGAACAGAGTGGAACAGTTAAGAGGGCAGGCTCAGGGCTCGGCCTGGGCCTGAAGCCTAGCTCCACCT... | pathogenic | 172,715 |
Does the genetic variant at chromosome 11, position 17406900, impacting gene ABCC8 (ATP binding cassette subfamily C member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Type_2_diabetes_mellitus'] | CTTGGGTTCAAATGATTCTCCTGCCTCAGCTTCCCAAGTAGTTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGAAGGGGTTTCATCATGTTGGCCATCAGGCTGGTCTTGAACACCTGGCCTCAAGTGATCCGCCTGCCTCCGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACTGAGCCCGGCCTTGCTCTCCCTTTATTATAGGCACGTATCTCATCTCTCCAGCTACAAGGTAAACTCCCTGAGGTAGGAATCAAGATTTTGTTTTCACACCATCTGGTACAATGGTAA... | CTTGGGTTCAAATGATTCTCCTGCCTCAGCTTCCCAAGTAGTTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGAAGGGGTTTCATCATGTTGGCCATCAGGCTGGTCTTGAACACCTGGCCTCAAGTGATCCGCCTGCCTCCGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACTGAGCCCGGCCTTGCTCTCCCTTTATTATAGGCACGTATCTCATCTCTCCAGCTACAAGGTAAACTCCCTGAGGTAGGAATCAAGATTTTGTTTTCACACCATCTGGTACAATGGTAA... | pathogenic | 172,731 |
Regarding the variant at chromosome 11 and position 17406924, affecting gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | CTCAGCTTCCCAAGTAGTTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGAAGGGGTTTCATCATGTTGGCCATCAGGCTGGTCTTGAACACCTGGCCTCAAGTGATCCGCCTGCCTCCGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACTGAGCCCGGCCTTGCTCTCCCTTTATTATAGGCACGTATCTCATCTCTCCAGCTACAAGGTAAACTCCCTGAGGTAGGAATCAAGATTTTGTTTTCACACCATCTGGTACAATGGTAAATAAAGAACACAGGCTGAATCAAA... | CTCAGCTTCCCAAGTAGTTGGGATTACAGGCACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGAAGGGGTTTCATCATGTTGGCCATCAGGCTGGTCTTGAACACCTGGCCTCAAGTGATCCGCCTGCCTCCGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACTGAGCCCGGCCTTGCTCTCCCTTTATTATAGGCACGTATCTCATCTCTCCAGCTACAAGGTAAACTCCCTGAGGTAGGAATCAAGATTTTGTTTTCACACCATCTGGTACAATGGTAAATAAAGAACACAGGCTGAATCAAA... | pathogenic | 172,733 |
Clinical significance of chromosome 11, position 17407435, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Neonatal_diabetes_mellitus'] | GAGGGCTGTGATCACCTGATCTGGGGAACCCAGCCTCAGACAGGAGAAGCCCCCAGGGGTCCGAGGTGTCTCTGGAAGGGGGGATAGTGTGGCACGGTCCTCTGTACCTGGTCGATGGTGTTACAGTCAGATGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTGGTCTCAAAAAACCTAAGAGGCAGCCAGAGGAAGAGTTACTCATTTGTCCATTGATTTACTTCCTGTTTACTGAATGAGATAGTTAATTATTTCATGTAAGTGTCTCTGGAGTCATTCATGGGTCTGGCATCCTCTGCCAATTTGTAGACATCTGG... | GAGGGCTGTGATCACCTGATCTGGGGAACCCAGCCTCAGACAGGAGAAGCCCCCAGGGGTCCGAGGTGTCTCTGGAAGGGGGGATAGTGTGGCACGGTCCTCTGTACCTGGTCGATGGTGTTACAGTCAGATGAAAATCTGTTCAGGATGCTCCCAAGGGGCGTGGTCTCAAAAAACCTAAGAGGCAGCCAGAGGAAGAGTTACTCATTTGTCCATTGATTTACTTCCTGTTTACTGAATGAGATAGTTAATTATTTCATGTAAGTGTCTCTGGAGTCATTCATGGGTCTGGCATCCTCTGCCAATTTGTAGACATCTGG... | pathogenic | 172,743 |
Does the variant impacting ABCC8 (ATP binding cassette subfamily C member 8) on chromosome 11, position 17416931, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Type_2_diabetes_mellitus'] | GGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCT... | GGGAGGAGCCCAAAAGTGTGACCAAACCAAGGGAACACTCAACTTCTGGCTTCCTCCCTCTTTGGGTAGCCCTCAAGCCACTGGACTTTGAAGTCAGCAGGTAATTCTCCAAATGGAAGAACTTTTTTTTTTTTTTTTAAAAGCAGAGCCAAGGAAGCCACATTTTGAGTGATGTGGTTTTTGAAGAAAAAAGAAAAAGAGATCCCAGATAAAAATGATCTTATGTGAAGGGAGTAAATGGATGCACAGAAACAGCAGCAGCTCCCGAGCCACCTGGTGGAGCACAGGGGCCCTCCCTGGCCTCCCCCAACACTGGGGCT... | pathogenic | 172,778 |
A genetic variant on chromosome 11, position 17427068, affects the gene ABCC8 (ATP binding cassette subfamily C member 8). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Neonatal_diabetes_mellitus', 'Type_2_diabetes_mellitus'] | CACTGGGGACTCTTGTCTTCTTGCTGCAGGCATGCAGTTGGACAGCAGAAAAGGGCTCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAA... | CACTGGGGACTCTTGTCTTCTTGCTGCAGGCATGCAGTTGGACAGCAGAAAAGGGCTCCTCCCTCCAAAGGCTGGAGAGGCAGTCGGAATAAGGCAATATGATCTCAAACCGAATACCTGGGCCTTCCCAGTCAGGCTATGTTGAAAAATCTCCCAAATAAAATGGCGAATGGAGGCAAAGACCCCTCTGCCCCCAAAGACATCACAGTCCCTGATGGGAGGTGATGGGAAACCCAAGGGGCTCATCTGCTAGCCCACGACCCCACTGAGGAGGGAAATTTGCCATCTTTTGGATACACCATTCAGGGACATCTTGGAAA... | pathogenic | 172,782 |
Determine whether the variant at chromosome 11, position 17428324, in gene ABCC8 (ATP binding cassette subfamily C member 8) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | GGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATTTGTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGT... | GGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATTTGTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGT... | pathogenic | 172,794 |
Benign or pathogenic: chromosome 11, position 17428395, gene ABCC8 (ATP binding cassette subfamily C member 8) variant? Disease(s) if pathogenic? | pathogenic; ['Type_2_diabetes_mellitus'] | GTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTA... | GTTGTTTCCTGACTTTTTAACGATCACCATTCTAACGGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTTTACATGAATCTTTCATCAACTAGTTTCAAGTGCTTCTTGGAAGTAGGTGGGTATAAATAACAGATTCGTGATTGACTGAGCCTGGGGTTCTGGCTCTTTAATTAAGACAGTGATCTTTGCCCAGAAACCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTA... | pathogenic | 172,795 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 17428594, gene ABCC8 (ATP binding cassette subfamily C member 8): what disease(s) if pathogenic? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | CCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAA... | CCAACATTTATTGGTTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAA... | pathogenic | 172,799 |
Regarding the variant at chromosome 11 and position 17428608, affecting gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hereditary_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | TTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAACCTGCGCATAGTAA... | TTACATCTGGATCTTCAGAACACCCACTTATGGTGTGTAGGTCAGTGCAGCTCAGGACCAAGCTGGAAACCAATGTTGGTGTTGCAATTTCCCACACTGGGAAATTACTGCCGTGCATCTGAGTAACCATGGGATTCAGAGTCTGACAGAACTGAGTTTCAATTCCAGCTCTGCCACTTATTAGCTGTGTGAATTAGGACAAATAGTTTAACCTTCCTCTATAAATGAGAATTGAGAACAGTATGGACCTTGTTAGTTATCATAAAAATTAAATGAAATAATGCATGCAAAGGACTTAGCAAAGAACCTGCGCATAGTAA... | pathogenic | 172,800 |
Determine if the mutation at chromosome 11, position 17432227 in gene ABCC8 (ATP binding cassette subfamily C member 8) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | TCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTA... | TCCCAGCCAAAGCCTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTA... | pathogenic | 172,815 |
Is the genetic mutation found on chromosome 11 at position 17432240, within the gene ABCC8 (ATP binding cassette subfamily C member 8), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_hyperinsulinism', 'Hereditary_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Inborn_genetic_diseases', 'Maturity_onset_diabetes_mellitus_in_young', 'Neonatal_diabetes_mellitus', 'Type_2_diabetes_mellitus'] | CTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTA... | CTCAGCCTTCTACCTTCAGGCTTTCATTCCCAAGAGGGCAATGCCTCTGGGACAGTGGCAGAGTCCCCATGAGGCTCTAGAGCCTGGAAGTGGGAGCCTCCAAGAGCTGTGGGCCAATCAGAGCAGGACCCAGCGCTTGGGGGAAGCTGTTTCACTGGCTGAGGCTGTGAGGGCTCAGGGGCTGTGGAAAGGGTAGGGGATACTTGGCCTGGGAAAGATAGACACAGTGGATGCCTTCTGATATCCATGGGGCAGCCACGTGGGGACGGGATGGCCTCATTCTTGGTGGCTCTGGAGGGTGAAGTTAGGACCAGTGGGTA... | pathogenic | 172,816 |
For chromosome 11, position 17443296, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Neonatal_diabetes_mellitus'] | CTCTTTGTGGAAAATAGCCTGAGACCAGGAGTTAAGAGACTTTGGAGGATCTAGTCCGAGCCATGCTACTAACCTCAGGAGGGATCTCAGGAACACACTCCCCTCTGGCCTTAATTTCCCATCTGTAAAATGGTTCTACCAACTTACTCTCCTTGCCACGTTCTGTGTAATCCCCACTCATCTGTCTTCTAATTCAAAAATTCTCTCTTCAGCTATACTCATTCATGTAACCTGTGCACTGAGTAAGTTTTGGTTTCTTTTTTGTTTTCTTCTTTCCAGGGGCTTCCACTTGGCCATAATGACTCTTAGACTGGACAGGT... | CTCTTTGTGGAAAATAGCCTGAGACCAGGAGTTAAGAGACTTTGGAGGATCTAGTCCGAGCCATGCTACTAACCTCAGGAGGGATCTCAGGAACACACTCCCCTCTGGCCTTAATTTCCCATCTGTAAAATGGTTCTACCAACTTACTCTCCTTGCCACGTTCTGTGTAATCCCCACTCATCTGTCTTCTAATTCAAAAATTCTCTCTTCAGCTATACTCATTCATGTAACCTGTGCACTGAGTAAGTTTTGGTTTCTTTTTTGTTTTCTTCTTTCCAGGGGCTTCCACTTGGCCATAATGACTCTTAGACTGGACAGGT... | pathogenic | 172,824 |
Variant in ABCC8 (ATP binding cassette subfamily C member 8), chromosome 11, position 17448511—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GAGATGAGGTCTCTCTATGTTGCCCAGGCTGGACTCGAACTCTTGGGCTCAAGCCATCCTCCTACCTCAGCCTTTTGAGTGGCTGAGACTACAGGCATGAGCCACCACACCCAGCTTAGAAAGTCTTGTGCATAAAAGGTTGGTTGGTAACTAAACTAGATGAGATCTCCAGGCCCTTTTGTAGCTTTTATAGTCATTGATCTGTCTTGGCAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAG... | GAGATGAGGTCTCTCTATGTTGCCCAGGCTGGACTCGAACTCTTGGGCTCAAGCCATCCTCCTACCTCAGCCTTTTGAGTGGCTGAGACTACAGGCATGAGCCACCACACCCAGCTTAGAAAGTCTTGTGCATAAAAGGTTGGTTGGTAACTAAACTAGATGAGATCTCCAGGCCCTTTTGTAGCTTTTATAGTCATTGATCTGTCTTGGCAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAG... | benign | 172,827 |
Gene ABCC8 (ATP binding cassette subfamily C member 8) variant at chromosome position 17448563 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Familial_hyperinsulinism', 'Hereditary_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | GCCATCCTCCTACCTCAGCCTTTTGAGTGGCTGAGACTACAGGCATGAGCCACCACACCCAGCTTAGAAAGTCTTGTGCATAAAAGGTTGGTTGGTAACTAAACTAGATGAGATCTCCAGGCCCTTTTGTAGCTTTTATAGTCATTGATCTGTCTTGGCAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAGCTGTGTCCCTGTGGGAGCCTCTCCCCTTTTTTTCTTTTAATATTTTTAAACT... | GCCATCCTCCTACCTCAGCCTTTTGAGTGGCTGAGACTACAGGCATGAGCCACCACACCCAGCTTAGAAAGTCTTGTGCATAAAAGGTTGGTTGGTAACTAAACTAGATGAGATCTCCAGGCCCTTTTGTAGCTTTTATAGTCATTGATCTGTCTTGGCAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAGCTGTGTCCCTGTGGGAGCCTCTCCCCTTTTTTTCTTTTAATATTTTTAAACT... | pathogenic | 172,831 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 17448721, gene ABCC8 (ATP binding cassette subfamily C member 8). What disease(s) is it linked to if pathogenic? | benign | CAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAGCTGTGTCCCTGTGGGAGCCTCTCCCCTTTTTTTCTTTTAATATTTTTAAACTCTAAGCTTTACAAGTAAGGAGGACCAATACAAATCACTGGAGATGAAGGTTTATGGAATCTTTATCCCAAGAAGCAATGGATTCTGGATTGGTAACACCTCACTCATACCAAACATGTGCAAGGTAGAGGGATCTGATATTTACGAAGTGAAGACTCT... | CAGAATGGAGCGGGGGCAGTCTGGGCATGGGTAGGTGGTAATGGGGGATGGCATATATGACTGTTCCCATAAAAAAGAACATCAGATTCCCTGCATCTCATCTTGTCTAGCTGTGTCCCTGTGGGAGCCTCTCCCCTTTTTTTCTTTTAATATTTTTAAACTCTAAGCTTTACAAGTAAGGAGGACCAATACAAATCACTGGAGATGAAGGTTTATGGAATCTTTATCCCAAGAAGCAATGGATTCTGGATTGGTAACACCTCACTCATACCAAACATGTGCAAGGTAGAGGGATCTGATATTTACGAAGTGAAGACTCT... | benign | 172,834 |
Gene ABCC8 (ATP binding cassette subfamily C member 8) variant at chromosome 11, position 17460642—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Type_2_diabetes_mellitus'] | CAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTCAAGACCCCTTTCAAACATCCCCTCCTCTATGAAGCTGTTCATGACCACTGGCTAAGTTAATCACTATCTTTTCCCACAATTCCCTGAATATTCCTCCTAAGAGTCACATGTAA... | CAGGCTAGAGCCAAAGGTGACACTCCTGTAGACAAGAGAAGCAGCCGCTTCCCCTCTCTTTTATGGGCCAGGTAAAGTAGAGAGGCTCAAAAAGCCAGATATGGCTTCAAAAGCCATCAAAGTTTAAATAAGCAAAAGTGGTCCTTGCATTCTTGGTTGAGCAAGAAATCTTCCCATGGCAGCCTGGCAAATTCCTACTCATCCGTCAAGACCCCTTTCAAACATCCCCTCCTCTATGAAGCTGTTCATGACCACTGGCTAAGTTAATCACTATCTTTTCCCACAATTCCCTGAATATTCCTCCTAAGAGTCACATGTAA... | pathogenic | 172,846 |
Chromosome 11, position 17461587, gene ABCC8 (ATP binding cassette subfamily C member 8): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Type_2_diabetes_mellitus'] | TGAACAAATGTTACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCA... | TGAACAAATGTTACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCA... | pathogenic | 172,851 |
Classify the chromosome 11 variant at position 17461599 affecting gene ABCC8 (ATP binding cassette subfamily C member 8) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Familial_hyperinsulinism', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | ACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGAT... | ACGCAAAGGGTGTCATAAATTATTAAAAACCCTAATTCCCCATTCTCTGCATTATTTTCAGACTGTCTGTGGTTAAAATGTTATAATGACATCCTCACTTGGAAACTAAAACTCTGAAACTTATTAGGGGTGAAAAAGTTTTCATTTTGTGGCCATTTAAACCTAAACGGCTGCAAGGAAACAGACAACAGAGCACAGTCTGCCCAGCCCCCGAAGTGGATGCTACGGCCCCACGCAGGGCAAATAACCCCGGGGAAAGGTTTTCTAGCTCCAACAAATTTCAGTTTGCAGAATCGTTACAACTGCCAAGGCCATTGGAT... | pathogenic | 172,852 |
Mutation found at chromosome 11 position 17463477, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Diabetes_mellitus,_permanent_neonatal_3', 'Diabetes_mellitus,_transient_neonatal,_2', 'Hyperinsulinemic_hypoglycemia,_familial,_1', 'Leucine-induced_hypoglycemia', 'Type_2_diabetes_mellitus'] | TCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGC... | TCACTGTGTGACTTAAGGCAAGCTTCTTCCCCTCACCAGCCTCAGTTTCCCCTCTTGTCCCACCAGGATTTTGACCTAATGCCCTTTGAGGTCCCTCTCTGTGACCCTAAACCAGAAGGCAGTGAATAGATGGTGTGGCTGTGCCCCCACTGACCACCTGGGCGTCAAAGGCCTCGCAGAGCCGTTGGTAGTTGGTGAGGGCCCTCATGGCGATGGGCAGCTTCCCGATGGCTCGCAAGTCGATGGGCTTCTTGTGGGCAGTCTTGATGAAGGCGTTCATCCACCAGTAGGTGCCTTTGGACAGCAGATTCACGAAGGGC... | pathogenic | 172,868 |
For chromosome 11, position 17476715, gene ABCC8 (ATP binding cassette subfamily C member 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hyperinsulinemic_hypoglycemia,_familial,_1', 'Type_2_diabetes_mellitus'] | CGTGTTCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGT... | CGTGTTCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGT... | pathogenic | 172,893 |
Variant in gene ABCC8 (ATP binding cassette subfamily C member 8), located at chromosome 11 position 17476720: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Type_2_diabetes_mellitus'] | TCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGT... | TCCCTCTGCTCTCCTGGACTGATGGCAGGGCCTGGGACTCACTTGCGTCCAGTGCCCAGCTCAGAGAGGTTGGCACATAGAAGACACTGAGCTGCTGGATGTAGTAACAAAAGACATGGGCTTGTGGAATATAGGTGAGCTAGGATCTCCTTGGGCCTTTCAGGAAGTACCCTGGAGCAGATTCACTTTCCTGAGTCCTCAGACAGTCACTCACCCATCAGACAGGATGCCCTCTGCAATCTCACACACCAGGACGAAGAGCAGCATGAAGGTCAGGATCCACCGCAGGTTGTGCCCAGGGAAATGAAGCCATGTGCTGT... | pathogenic | 172,894 |
The mutation in gene USH1C (USH1 protein network component harmonin) at chromosome 11, position 17501104—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'USH1C-related_disorder', 'Usher_syndrome_type_1C'] | AGAGCTACTCACTGCAGGATTTGTCAGTCTTGAATGTGCTAACATGCACTGCAGCTTTCCAAGAGGTAGACAGATTGTGCGTGGTTTTCCACACCTCTTTGACATCAGAGCCCTTTTTGGAGGAATTTCTCCCAGTCCTGATGTCCACAGAACACTCTCCAGGTTACATTGAAATAGATCACCCAGGAGCCTTGTGGCATGAAGGCCCATAGGAATGTGGTGTATGATACTGACAATGGTGGCCATGGTGGCTTAAAACACACGTGCTCCTAGGGAAGCTTCATCAGTGACTAGTTATGTTCAAAGCAGTGCAGGACCAA... | AGAGCTACTCACTGCAGGATTTGTCAGTCTTGAATGTGCTAACATGCACTGCAGCTTTCCAAGAGGTAGACAGATTGTGCGTGGTTTTCCACACCTCTTTGACATCAGAGCCCTTTTTGGAGGAATTTCTCCCAGTCCTGATGTCCACAGAACACTCTCCAGGTTACATTGAAATAGATCACCCAGGAGCCTTGTGGCATGAAGGCCCATAGGAATGTGGTGTATGATACTGACAATGGTGGCCATGGTGGCTTAAAACACACGTGCTCCTAGGGAAGCTTCATCAGTGACTAGTTATGTTCAAAGCAGTGCAGGACCAA... | pathogenic | 172,936 |
Gene mutation in USH1C (USH1 protein network component harmonin) at chromosome 11, position 17517464—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Retinitis_pigmentosa', 'Usher_syndrome_type_1C'] | TACAGGCAGGGAGAATTATATATCATCAAGGTCACTCAGCTGCCAGTGCTCTGGTTTCTGGGGGACTGACATCTTGCCAGAAAGCGCTGGTCAAGTGATAACATCCAATTTAGCTCACCCAGATTTATGCTGCTGCCTGACCTCCAAATACCAAGTCATCTCGAATGTCCAATTATAGATATTAACAGCAATGTTTTCACAATCAAATGTCAATGTGATTTAGAAAGATAAGGACAAGAGAGTTTTACAAGGCCTGGAGATATTGTAATAAGATTTAGAGAGAAAATTAAAGGTCCTAGAAATTGGAAAAATGCATTATC... | TACAGGCAGGGAGAATTATATATCATCAAGGTCACTCAGCTGCCAGTGCTCTGGTTTCTGGGGGACTGACATCTTGCCAGAAAGCGCTGGTCAAGTGATAACATCCAATTTAGCTCACCCAGATTTATGCTGCTGCCTGACCTCCAAATACCAAGTCATCTCGAATGTCCAATTATAGATATTAACAGCAATGTTTTCACAATCAAATGTCAATGTGATTTAGAAAGATAAGGACAAGAGAGTTTTACAAGGCCTGGAGATATTGTAATAAGATTTAGAGAGAAAATTAAAGGTCCTAGAAATTGGAAAAATGCATTATC... | pathogenic | 172,973 |
Mutation found at chromosome 11 position 17520933, gene USH1C (USH1 protein network component harmonin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C'] | GGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAG... | GGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAG... | pathogenic | 172,979 |
Evaluate the clinical significance of the mutation at chromosome 11, position 17520940 in gene USH1C (USH1 protein network component harmonin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C'] | GCCTGTAGTCCCAGCTACTCGGGAGGCTTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAGGTGAGCT... | GCCTGTAGTCCCAGCTACTCGGGAGGCTTTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAGGTGAGCT... | pathogenic | 172,980 |
Evaluate if the mutation on chromosome 11 at position 17520983 in USH1C (USH1 protein network component harmonin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A'] | TGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAGGTGAGCTGGCTCAGGGACCTCACTGCATTTCCTGCCTTAGGTCCAAATGA... | TGCTTGAACCCAGGAGGCGGAGGCTGCGGGGAGCTGAGATCACGCCATGGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAGAAAAAAAAAAAAGCAGGGCCCACCCCTTGCAGGCATAGAAGCCTGAGTCAGGTATAACCTATTGCAAACTGGGTGCTGAGTTGAAGGGTGGTTGGATAGGAGCTGGCTGGGGCCCAGGCCTGCTGGACCAACTCAGCCCTGACCATGCTAGACCCCGGGGAACAGGGAGTGAGGCAGGAGGTGAGCTGGCTCAGGGACCTCACTGCATTTCCTGCCTTAGGTCCAAATGA... | pathogenic | 172,982 |
Does the chromosome 11 mutation at position 17522863 within gene USH1C (USH1 protein network component harmonin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Usher_syndrome_type_1C'] | GGCCAGCATTTCTGACTAGTTCCCTTAGCCTCTCCCCTCGGCTCATGAAACTTACACTTTGGCTTGCGAAGGGGTACTGGGTGTACCTCAGCAGTGATGGTTTTAGGCAAGAGTAGCTGTTCCTTTGAGCCCCAGTCTTCTTCCCATTGCTTCTTAAACTTCTCTTCCTCCTCTACAATCCTAAAATGAGACCCCCATGCCTGTTACTGGAGTCAGAACCCCCATAGGCCCATCTCCTGCATATCGGAGAGCCCCAGCCAGCCTGGGGAGAAGCCTCATGGTTCTAGTCATGATGAATCAAGCAAAGTCCCCGAGCTTGT... | GGCCAGCATTTCTGACTAGTTCCCTTAGCCTCTCCCCTCGGCTCATGAAACTTACACTTTGGCTTGCGAAGGGGTACTGGGTGTACCTCAGCAGTGATGGTTTTAGGCAAGAGTAGCTGTTCCTTTGAGCCCCAGTCTTCTTCCCATTGCTTCTTAAACTTCTCTTCCTCCTCTACAATCCTAAAATGAGACCCCCATGCCTGTTACTGGAGTCAGAACCCCCATAGGCCCATCTCCTGCATATCGGAGAGCCCCAGCCAGCCTGGGGAGAAGCCTCATGGTTCTAGTCATGATGAATCAAGCAAAGTCCCCGAGCTTGT... | pathogenic | 172,998 |
Does the variant on chromosome 11 at location 17523238 affecting gene USH1C (USH1 protein network component harmonin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C', 'Usher_syndrome_type_2'] | TACTATAATATGACAGGCTTTACTACAAATAAAGGAGGACCCACCAGGGGATGAGAGAACCAGGTAAACTGGTTCTGGAGGCAGCCTCTGGTTGGCCACACTCCCCTGAGCACACTGATGTTCATGCACAGACACGCGTGGAGCCGAGGTACTCACTGTTCCATCTCCTTCCGGTATCTCTCATTTTCCTCTGCTGCCTTCTGGGCAATTTCTTTTCTCCTTCTGAAACACAAATGCAGATTGGCATGTTTGGCCCTATGCAAGAGAAATGAACTCTTCCTTACTGTGAATTCTTGATTTGGAGAAAAGTTGGATTTTTC... | TACTATAATATGACAGGCTTTACTACAAATAAAGGAGGACCCACCAGGGGATGAGAGAACCAGGTAAACTGGTTCTGGAGGCAGCCTCTGGTTGGCCACACTCCCCTGAGCACACTGATGTTCATGCACAGACACGCGTGGAGCCGAGGTACTCACTGTTCCATCTCCTTCCGGTATCTCTCATTTTCCTCTGCTGCCTTCTGGGCAATTTCTTTTCTCCTTCTGAAACACAAATGCAGATTGGCATGTTTGGCCCTATGCAAGAGAAATGAACTCTTCCTTACTGTGAATTCTTGATTTGGAGAAAAGTTGGATTTTTC... | pathogenic | 173,000 |
Located at chromosome 11 position 17523460, the variant affecting gene USH1C (USH1 protein network component harmonin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Usher_syndrome'] | CTGAAACACAAATGCAGATTGGCATGTTTGGCCCTATGCAAGAGAAATGAACTCTTCCTTACTGTGAATTCTTGATTTGGAGAAAAGTTGGATTTTTCTCCAGGCTCCCTTCCTAGGAGGCCTGGACCAGCTTTGGTTTTGGGGGACGTTATCTAACAAAGTCTGGACGCTGTGCTCTTGCGTGGTTTTGTCTGGCATGGCTGAGCAGAGATGCTGGGCTGTGGGAGGAGGGAAGCAGATCCATGTGAAGGCCACACTCCATGCACCCTCCTCCAAACACTTAGGTAAGGTGACTGATGACAGGCGGGGCCTGGACTGAC... | CTGAAACACAAATGCAGATTGGCATGTTTGGCCCTATGCAAGAGAAATGAACTCTTCCTTACTGTGAATTCTTGATTTGGAGAAAAGTTGGATTTTTCTCCAGGCTCCCTTCCTAGGAGGCCTGGACCAGCTTTGGTTTTGGGGGACGTTATCTAACAAAGTCTGGACGCTGTGCTCTTGCGTGGTTTTGTCTGGCATGGCTGAGCAGAGATGCTGGGCTGTGGGAGGAGGGAAGCAGATCCATGTGAAGGCCACACTCCATGCACCCTCCTCCAAACACTTAGGTAAGGTGACTGATGACAGGCGGGGCCTGGACTGAC... | pathogenic | 173,004 |
For chromosome 11, position 17524445, gene USH1C (USH1 protein network component harmonin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome', 'Usher_syndrome_type_1C'] | AATACTCTCTACCTCCCAGGGCTATTGTGGGAATTAAGAAACATAAACAAGGCCCTAATACAACACCAGCCTTATGGAGGTACTTGACAAATGTTAGCTGGTAGCTAATCCTAGCTAGCTAGAGCCTACTGCTAGTAGGATGCTTATTTTCCATATTCTTGGAATGTTGGAAGACAGGGGGCTCTGCTCAGCAAGGAGGAAGGAGCCAGGTGGTCTGAGGCCAAGGATGGATACGCTGACCTACCACCAAACTCATCTGGTCTGAGGACTGGCCTCCAGGGAGGAGGAGGAAGTTGGCTGGGGACACAGCGGGCAGGAAG... | AATACTCTCTACCTCCCAGGGCTATTGTGGGAATTAAGAAACATAAACAAGGCCCTAATACAACACCAGCCTTATGGAGGTACTTGACAAATGTTAGCTGGTAGCTAATCCTAGCTAGCTAGAGCCTACTGCTAGTAGGATGCTTATTTTCCATATTCTTGGAATGTTGGAAGACAGGGGGCTCTGCTCAGCAAGGAGGAAGGAGCCAGGTGGTCTGAGGCCAAGGATGGATACGCTGACCTACCACCAAACTCATCTGGTCTGAGGACTGGCCTCCAGGGAGGAGGAGGAAGTTGGCTGGGGACACAGCGGGCAGGAAG... | pathogenic | 173,010 |
Mutation found at chromosome 11 position 17524498, gene USH1C (USH1 protein network component harmonin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C'] | CCTAATACAACACCAGCCTTATGGAGGTACTTGACAAATGTTAGCTGGTAGCTAATCCTAGCTAGCTAGAGCCTACTGCTAGTAGGATGCTTATTTTCCATATTCTTGGAATGTTGGAAGACAGGGGGCTCTGCTCAGCAAGGAGGAAGGAGCCAGGTGGTCTGAGGCCAAGGATGGATACGCTGACCTACCACCAAACTCATCTGGTCTGAGGACTGGCCTCCAGGGAGGAGGAGGAAGTTGGCTGGGGACACAGCGGGCAGGAAGCAAGCTAGGTGGGGTCGTGTGGTGGGGTGGGAGGCGGGACAGGGCATCCAGGG... | CCTAATACAACACCAGCCTTATGGAGGTACTTGACAAATGTTAGCTGGTAGCTAATCCTAGCTAGCTAGAGCCTACTGCTAGTAGGATGCTTATTTTCCATATTCTTGGAATGTTGGAAGACAGGGGGCTCTGCTCAGCAAGGAGGAAGGAGCCAGGTGGTCTGAGGCCAAGGATGGATACGCTGACCTACCACCAAACTCATCTGGTCTGAGGACTGGCCTCCAGGGAGGAGGAGGAAGTTGGCTGGGGACACAGCGGGCAGGAAGCAAGCTAGGTGGGGTCGTGTGGTGGGGTGGGAGGCGGGACAGGGCATCCAGGG... | pathogenic | 173,011 |
Does the variant impacting USH1C (USH1 protein network component harmonin) on chromosome 11, position 17526854, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AATGCTATCCCTTCTATAAGGTTTTTACCAGATCCTCTTATTTTTTTAAATTTATTTTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCATAGCTCTCTGCAACCTCCAACTCCTGGGATCAAGCAATCTTCCCACCTCAGCCTAGCTGCGACTACAGGTGTGCACCACCATGCCTGGCTCAGATCCCTTATTCTATCCCAAGACTAAACTAGCCGCTCTGTTCTCAGTGCTCCTATGACATTTACGGCAAGGATGGTACATGTACTGTTAGTATTCCTTCCTAGATTGGTGGCAGAAG... | AATGCTATCCCTTCTATAAGGTTTTTACCAGATCCTCTTATTTTTTTAAATTTATTTTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCATAGCTCTCTGCAACCTCCAACTCCTGGGATCAAGCAATCTTCCCACCTCAGCCTAGCTGCGACTACAGGTGTGCACCACCATGCCTGGCTCAGATCCCTTATTCTATCCCAAGACTAAACTAGCCGCTCTGTTCTCAGTGCTCCTATGACATTTACGGCAAGGATGGTACATGTACTGTTAGTATTCCTTCCTAGATTGGTGGCAGAAG... | benign | 173,035 |
Variant on chromosome 11, at position 17527041, affecting USH1C (USH1 protein network component harmonin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Retinal_dystrophy', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1C'] | CACCATGCCTGGCTCAGATCCCTTATTCTATCCCAAGACTAAACTAGCCGCTCTGTTCTCAGTGCTCCTATGACATTTACGGCAAGGATGGTACATGTACTGTTAGTATTCCTTCCTAGATTGGTGGCAGAAGTCACTCATTGATCACAGCACTCTTTCCCACAATCCTGGATACAGCTTTAGAATGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTT... | CACCATGCCTGGCTCAGATCCCTTATTCTATCCCAAGACTAAACTAGCCGCTCTGTTCTCAGTGCTCCTATGACATTTACGGCAAGGATGGTACATGTACTGTTAGTATTCCTTCCTAGATTGGTGGCAGAAGTCACTCATTGATCACAGCACTCTTTCCCACAATCCTGGATACAGCTTTAGAATGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTT... | pathogenic | 173,037 |
Determine whether the variant at chromosome 11, position 17527218, in gene USH1C (USH1 protein network component harmonin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C'] | CTTTAGAATGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTTCTAGATTAGGCTGTTGTCTCCCAGAAAGGTGGGACTTTTTATCACTTGTGCTTGGCACAAAACATTGAATAAATGTGAATGAAAGGAAAGAACAGGGATAACTTAAATAATAATAGCTAATATTTACCAACTGCTTACTATTTAGCAGGTACTAAGTTTGGCACTTTACTTTCTCCA... | CTTTAGAATGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTTCTAGATTAGGCTGTTGTCTCCCAGAAAGGTGGGACTTTTTATCACTTGTGCTTGGCACAAAACATTGAATAAATGTGAATGAAAGGAAAGAACAGGGATAACTTAAATAATAATAGCTAATATTTACCAACTGCTTACTATTTAGCAGGTACTAAGTTTGGCACTTTACTTTCTCCA... | pathogenic | 173,040 |
Chromosome 11, position 17527226, gene USH1C (USH1 protein network component harmonin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Retinal_dystrophy', 'Usher_syndrome_type_1C'] | TGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTTCTAGATTAGGCTGTTGTCTCCCAGAAAGGTGGGACTTTTTATCACTTGTGCTTGGCACAAAACATTGAATAAATGTGAATGAAAGGAAAGAACAGGGATAACTTAAATAATAATAGCTAATATTTACCAACTGCTTACTATTTAGCAGGTACTAAGTTTGGCACTTTACTTTCTCCACAACCACC... | TGCTTTTCAAAGCAGCACTCCAGGGAGCTGCTACTCATTGACTAGAGATGGCACCTATTTGCCATCCTGGACGCAGAATGTAGTCCCGTTCGAGTCCCTATCACCCTATATTATAACTATTTACTTGGTTGGCTTCTAGATTAGGCTGTTGTCTCCCAGAAAGGTGGGACTTTTTATCACTTGTGCTTGGCACAAAACATTGAATAAATGTGAATGAAAGGAAAGAACAGGGATAACTTAAATAATAATAGCTAATATTTACCAACTGCTTACTATTTAGCAGGTACTAAGTTTGGCACTTTACTTTCTCCACAACCACC... | pathogenic | 173,043 |
The chromosome 11, position 17531165 genetic variant in gene USH1C (USH1 protein network component harmonin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A'] | CTGGATCCTTGCCACCTGTCAGAGCCCTCAAGTCCCACACAAAGGCAGCTGTCCATGTTATGACAGGGAAAACCAAAGCACACAGAATAATTTTCTAGGTCTGGAATATACAGCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCC... | CTGGATCCTTGCCACCTGTCAGAGCCCTCAAGTCCCACACAAAGGCAGCTGTCCATGTTATGACAGGGAAAACCAAAGCACACAGAATAATTTTCTAGGTCTGGAATATACAGCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCC... | pathogenic | 173,049 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 17531167, gene USH1C (USH1 protein network component harmonin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Usher_syndrome_type_1C'] | GGATCCTTGCCACCTGTCAGAGCCCTCAAGTCCCACACAAAGGCAGCTGTCCATGTTATGACAGGGAAAACCAAAGCACACAGAATAATTTTCTAGGTCTGGAATATACAGCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCA... | GGATCCTTGCCACCTGTCAGAGCCCTCAAGTCCCACACAAAGGCAGCTGTCCATGTTATGACAGGGAAAACCAAAGCACACAGAATAATTTTCTAGGTCTGGAATATACAGCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCA... | pathogenic | 173,050 |
Variant in gene USH1C (USH1 protein network component harmonin), located at chromosome 11 position 17531277: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Usher_syndrome_type_2'] | GCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATG... | GCAAGTTGTATGTCACAGGCTGCCCTGTGCAAGGCAGAGGATGTAGGTTAAGTTAGGATATTCTTGGGGAAAAAAAAACAAAAACCAAGTATCTCCAGCAGGGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATG... | pathogenic | 173,056 |
Clinically, how would you classify the variant at chromosome 11, position 17531378, gene USH1C (USH1 protein network component harmonin): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATGCAGCCATTTTTCCCGAAGCTCCTCTGAGTAAAGTTCCCTGTCTTATTCCTAAAGGGAATTTGCCCAGAACCCCAGTCGGAATGATTCCCACACAGCCCCTG... | GGGACAAGGGCAGAGGGGTGGACCCCCAGGACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATGCAGCCATTTTTCCCGAAGCTCCTCTGAGTAAAGTTCCCTGTCTTATTCCTAAAGGGAATTTGCCCAGAACCCCAGTCGGAATGATTCCCACACAGCCCCTG... | benign | 173,057 |
Clinically, how would you classify the variant at chromosome 11, position 17531408, gene USH1C (USH1 protein network component harmonin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18A', 'Hearing_loss,_autosomal_recessive', 'Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'USH1C-related_disorder', 'Usher_syndrome', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1C'] | ACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATGCAGCCATTTTTCCCGAAGCTCCTCTGAGTAAAGTTCCCTGTCTTATTCCTAAAGGGAATTTGCCCAGAACCCCAGTCGGAATGATTCCCACACAGCCCCTGGCTCAGGTTGCAGGATCAACTTTCCTCCCC... | ACTAGGTCCTGTGGGAGGGTCCAAGCCCACCACTGGGGACCCAGCCTCACAGGTCAAATCAGCACAGGTCTTTAGCCCAGCCGGGCTGTATCTGAACCTGCTCATCCCCTGCCTTCCAGCATCTTCTTCCAGTTGCCCTCAGGCATGAGATCTCCCCAGAAGCATGAACCCCAGACAGGTCAATGGATGCAGCCATTTTTCCCGAAGCTCCTCTGAGTAAAGTTCCCTGTCTTATTCCTAAAGGGAATTTGCCCAGAACCCCAGTCGGAATGATTCCCACACAGCCCCTGGCTCAGGTTGCAGGATCAACTTTCCTCCCC... | pathogenic | 173,059 |
Is the genetic mutation found on chromosome 11 at position 17553406, within the gene OTOG (otogelin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | TGCTCTGGGAGTTCTGTCTGGAAAATAGGGTTTCTAAGCCACACACTTGGCCTGTCTCCTCCTTAGACCTGAGGTATCAGGGCAGGAGTCCTGACTGGGAGCTGAGTTGTGAGGACAGTGGGTGTTGATCTGTGGGCTGCTGGTTTTGCTGTTCTTGGAAGAACCCCAAAGGAAGGTTGGGGTGGGGGTGGCTGTGGGGGTGAGATGTTCCCCTGACCTGGGGTGAGGGGCTGCCTTTGTTCCTTAGCTCTGCCTCATGCTCGTAATCCAGACAAGGGATTGTGTGTAAGGCTGTGGAGGACATAAGGGTTTACTGGGAG... | TGCTCTGGGAGTTCTGTCTGGAAAATAGGGTTTCTAAGCCACACACTTGGCCTGTCTCCTCCTTAGACCTGAGGTATCAGGGCAGGAGTCCTGACTGGGAGCTGAGTTGTGAGGACAGTGGGTGTTGATCTGTGGGCTGCTGGTTTTGCTGTTCTTGGAAGAACCCCAAAGGAAGGTTGGGGTGGGGGTGGCTGTGGGGGTGAGATGTTCCCCTGACCTGGGGTGAGGGGCTGCCTTTGTTCCTTAGCTCTGCCTCATGCTCGTAATCCAGACAAGGGATTGTGTGTAAGGCTGTGGAGGACATAAGGGTTTACTGGGAG... | pathogenic | 173,095 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 17553476, gene OTOG (otogelin): what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness'] | GAGGTATCAGGGCAGGAGTCCTGACTGGGAGCTGAGTTGTGAGGACAGTGGGTGTTGATCTGTGGGCTGCTGGTTTTGCTGTTCTTGGAAGAACCCCAAAGGAAGGTTGGGGTGGGGGTGGCTGTGGGGGTGAGATGTTCCCCTGACCTGGGGTGAGGGGCTGCCTTTGTTCCTTAGCTCTGCCTCATGCTCGTAATCCAGACAAGGGATTGTGTGTAAGGCTGTGGAGGACATAAGGGTTTACTGGGAGAGAGGGAAGAAAAGGAGGCTGGCAGGTATTGGGGCATGGAGGGGAGGGGCTGTGTTCCAGCCATGGGCCT... | GAGGTATCAGGGCAGGAGTCCTGACTGGGAGCTGAGTTGTGAGGACAGTGGGTGTTGATCTGTGGGCTGCTGGTTTTGCTGTTCTTGGAAGAACCCCAAAGGAAGGTTGGGGTGGGGGTGGCTGTGGGGGTGAGATGTTCCCCTGACCTGGGGTGAGGGGCTGCCTTTGTTCCTTAGCTCTGCCTCATGCTCGTAATCCAGACAAGGGATTGTGTGTAAGGCTGTGGAGGACATAAGGGTTTACTGGGAGAGAGGGAAGAAAAGGAGGCTGGCAGGTATTGGGGCATGGAGGGGAGGGGCTGTGTTCCAGCCATGGGCCT... | pathogenic | 173,097 |
For chromosome 11, position 17573111, gene OTOG (otogelin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B', 'Rare_genetic_deafness'] | CCACACATTAGGGGATGCAGAAGGAAACAGGGAAGGCATTCTTTAGCCAAAACGGAGAATTCAGATTTGCTGTGAAGAACAAGAACAAAATAAAGCTCAGAGCTTTTCAATGCATATATATTTAAAACTGTGGCATTCTACTATGCTTTGCCTAGTAGGGCAGATGTTAGGGTAGCTGGCCAAATAGTAGGGGGAGACCTTGGTTTAGTGTGTAAGCTGTTTGCCACTTTCCTAAATGTAACCTTTGGGTAGGAATATTGCCCTACATAATATGAGTGTACTCATTGCCCCAGAACAATAGTTGGGCATGGTGGGTGCCA... | CCACACATTAGGGGATGCAGAAGGAAACAGGGAAGGCATTCTTTAGCCAAAACGGAGAATTCAGATTTGCTGTGAAGAACAAGAACAAAATAAAGCTCAGAGCTTTTCAATGCATATATATTTAAAACTGTGGCATTCTACTATGCTTTGCCTAGTAGGGCAGATGTTAGGGTAGCTGGCCAAATAGTAGGGGGAGACCTTGGTTTAGTGTGTAAGCTGTTTGCCACTTTCCTAAATGTAACCTTTGGGTAGGAATATTGCCCTACATAATATGAGTGTACTCATTGCCCCAGAACAATAGTTGGGCATGGTGGGTGCCA... | pathogenic | 173,158 |
For chromosome 11, position 17574878, gene OTOG (otogelin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B', 'Rare_genetic_deafness'] | TTAGTGACTGTCTCCTTTGACCAGAATGTAAGCTCCAGGGATTTTTGTCAAGCCACGTATTCACACCCAGATGTACTAAACCACACCCATACCTTCCCAGCCAGCTGTACACTGAAGTAGCTGCCTACATCCGTACAGCGTGTGCACACACACACACCCCTGAGCCATGGGGAGGGAGAGAGGCTGATCCTGGGACACCAGGTAGACCGACTCCCCTGACTGCCTGGCTCCTGTTCTTCCTTCCCCAGCCTCCTACTCAGTGCAGGCCTGCAGCGTGCTCACGGGGGAGATGTTTGCGCCCTGCTCTGCGTTCCTGAGCC... | TTAGTGACTGTCTCCTTTGACCAGAATGTAAGCTCCAGGGATTTTTGTCAAGCCACGTATTCACACCCAGATGTACTAAACCACACCCATACCTTCCCAGCCAGCTGTACACTGAAGTAGCTGCCTACATCCGTACAGCGTGTGCACACACACACACCCCTGAGCCATGGGGAGGGAGAGAGGCTGATCCTGGGACACCAGGTAGACCGACTCCCCTGACTGCCTGGCTCCTGTTCTTCCTTCCCCAGCCTCCTACTCAGTGCAGGCCTGCAGCGTGCTCACGGGGGAGATGTTTGCGCCCTGCTCTGCGTTCCTGAGCC... | pathogenic | 173,169 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 17576544, gene OTOG (otogelin). What disease(s) is it linked to if pathogenic? | benign | AGGACCCACCTGCTGCTTTGCCGTTCCAGTGTATTGGTAGGCAGTGGGACTCTGGAGTCAGACCTGGGTTCAAATCCTGCCTCTGACCTTGACCTGCTGTGTGACCTCAGACAAATGTCTGAACTTCTCTGGATCTCCATTCTCCTCATCAGAATGACAGCCCCACTCCACATAACTGTGGGGATGAGGGAGACAAAGCATGCACCACTCCCCCCTCACTGCAGCACTGTCCTGTGAGGCCTCCAAGGAGTATAGCCCCTGCGTGGCCCCGTGTGGACGTACCTGCCAGGACCTGGCCAGCCCTGAGGCCTGTGGGGTTG... | AGGACCCACCTGCTGCTTTGCCGTTCCAGTGTATTGGTAGGCAGTGGGACTCTGGAGTCAGACCTGGGTTCAAATCCTGCCTCTGACCTTGACCTGCTGTGTGACCTCAGACAAATGTCTGAACTTCTCTGGATCTCCATTCTCCTCATCAGAATGACAGCCCCACTCCACATAACTGTGGGGATGAGGGAGACAAAGCATGCACCACTCCCCCCTCACTGCAGCACTGTCCTGTGAGGCCTCCAAGGAGTATAGCCCCTGCGTGGCCCCGTGTGGACGTACCTGCCAGGACCTGGCCAGCCCTGAGGCCTGTGGGGTTG... | benign | 173,173 |
Benign or pathogenic: chromosome 11, position 17576629, gene OTOG (otogelin) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B'] | ACCTTGACCTGCTGTGTGACCTCAGACAAATGTCTGAACTTCTCTGGATCTCCATTCTCCTCATCAGAATGACAGCCCCACTCCACATAACTGTGGGGATGAGGGAGACAAAGCATGCACCACTCCCCCCTCACTGCAGCACTGTCCTGTGAGGCCTCCAAGGAGTATAGCCCCTGCGTGGCCCCGTGTGGACGTACCTGCCAGGACCTGGCCAGCCCTGAGGCCTGTGGGGTTGATGGTGGCGATGACCTGAGCAGAGACGAGTGTGTGGAGGGCTGTGCCTGCCCACCGGACACCTATCTGGACACCCAGGCTGACCT... | ACCTTGACCTGCTGTGTGACCTCAGACAAATGTCTGAACTTCTCTGGATCTCCATTCTCCTCATCAGAATGACAGCCCCACTCCACATAACTGTGGGGATGAGGGAGACAAAGCATGCACCACTCCCCCCTCACTGCAGCACTGTCCTGTGAGGCCTCCAAGGAGTATAGCCCCTGCGTGGCCCCGTGTGGACGTACCTGCCAGGACCTGGCCAGCCCTGAGGCCTGTGGGGTTGATGGTGGCGATGACCTGAGCAGAGACGAGTGTGTGGAGGGCTGTGCCTGCCCACCGGACACCTATCTGGACACCCAGGCTGACCT... | pathogenic | 173,175 |
Is the genetic change at chromosome 11, position 17610282, within gene OTOG (otogelin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | GCTCTGGGACTCCCTCTGTGTCTTCACCTGACCCAGAGTTGCTGCCCCATCTCACTTTCTAGATGCCAAGCCCTCGGGGGCTGCCTACCCCATCTGCGAGTGGCGCTACGATGCCTGTGCCAGCCCCTGCTTCCAAACCTGCCGGGACCCACGGGCAGCCAGCTGCCGGGACGTACCCAGGTGAGATGCCAGGGGCTGTGGGCATGGAGCCAAGGTGTGTGCACTAGTGTGTGTGTGCACTCACATACACTTGTGTATGAGTGTTTCATATGTTGAGTGTATGGGGATGTGTGTACCACGGTAACTGTGTCTTTCCGTAT... | GCTCTGGGACTCCCTCTGTGTCTTCACCTGACCCAGAGTTGCTGCCCCATCTCACTTTCTAGATGCCAAGCCCTCGGGGGCTGCCTACCCCATCTGCGAGTGGCGCTACGATGCCTGTGCCAGCCCCTGCTTCCAAACCTGCCGGGACCCACGGGCAGCCAGCTGCCGGGACGTACCCAGGTGAGATGCCAGGGGCTGTGGGCATGGAGCCAAGGTGTGTGCACTAGTGTGTGTGTGCACTCACATACACTTGTGTATGAGTGTTTCATATGTTGAGTGTATGGGGATGTGTGTACCACGGTAACTGTGTCTTTCCGTAT... | pathogenic | 173,245 |
Clinically, how would you classify the variant at chromosome 11, position 17611220, gene OTOG (otogelin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rare_genetic_deafness'] | GGATGAAGTCACACAGAGATGTGTCTACTTGGAGGACTGTAAGTGGCCCAGACTTCTCATCCTTCCCTCAGATTTCCTCTAAGTCCCTAGGGTCTCACTGAGCAGTCATGCCTCAAAGCTCCCAGGTCCCAGAGAAGCAAGATCAGCACAGGGACCTTTGGAAAGAGGCACAGGCACAGGGGATGCAGAGGCCTCATCCGGTCTATTCGCCCCATTTCACAGAGAGGAGAAATGAGGCCCAGAGTGGGGTCACATGGTGAGAAGGTGGTGCAGCCAGACTTAGACCTGAGGTCTCTTGGTTCTGGGGTCAGGGTCTGACG... | GGATGAAGTCACACAGAGATGTGTCTACTTGGAGGACTGTAAGTGGCCCAGACTTCTCATCCTTCCCTCAGATTTCCTCTAAGTCCCTAGGGTCTCACTGAGCAGTCATGCCTCAAAGCTCCCAGGTCCCAGAGAAGCAAGATCAGCACAGGGACCTTTGGAAAGAGGCACAGGCACAGGGGATGCAGAGGCCTCATCCGGTCTATTCGCCCCATTTCACAGAGAGGAGAAATGAGGCCCAGAGTGGGGTCACATGGTGAGAAGGTGGTGCAGCCAGACTTAGACCTGAGGTCTCTTGGTTCTGGGGTCAGGGTCTGACG... | pathogenic | 173,263 |
Variant at chromosome 11, position 17631709, gene OTOG (otogelin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B'] | ACACAACAGCACTGAGAGATGGCCATTAGTATCCCCACTGAACTAAAGAAGAAAGGGGGCTCAGAGAGATTAAGGGGCTTACCCAAGGGCACACAGCAGAGCTGCCACAATACACAGAACTAATGCTCTTCAGACCATAGCACAATTGCAGAGCATGCCCTAAAAGATTGAATGTATTCTCATAAGGAAAAGAGATATGGGACAAGCCTGGATGTGGGCCGCTGCTCATTGCCGGGGCATAAGCACATGGACACTCATGGGGCACTCCGTGACAGACTACCATGATTGTGACGATGGGTGAGATAAAAACACTTACACAC... | ACACAACAGCACTGAGAGATGGCCATTAGTATCCCCACTGAACTAAAGAAGAAAGGGGGCTCAGAGAGATTAAGGGGCTTACCCAAGGGCACACAGCAGAGCTGCCACAATACACAGAACTAATGCTCTTCAGACCATAGCACAATTGCAGAGCATGCCCTAAAAGATTGAATGTATTCTCATAAGGAAAAGAGATATGGGACAAGCCTGGATGTGGGCCGCTGCTCATTGCCGGGGCATAAGCACATGGACACTCATGGGGCACTCCGTGACAGACTACCATGATTGTGACGATGGGTGAGATAAAAACACTTACACAC... | pathogenic | 173,280 |
Considering the variant on chromosome 11, location 17634152, involving gene OTOG (otogelin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B', 'OTOG-related_disorder', 'Rare_genetic_deafness'] | TCTGTGAGCTGTGGATCCGGGACACCAAGTACGTGCAGCAGCCCTGCGTGGCCCTGACTGTGTACGTGGCCATGTGCCACAAATTTCATGTGTGCATCGAGTGGCGGCGCTCTGACTACTGCCGTGAGTTTGCGGGGCAGGGGGACCCTCCATTGTGACTATTGTTCCCATCCCCTGTTAAAGTGGGAAAAGGCTCCCGGCCCCAAGTTCATGTATGCTTTCCCAGCTTTAATCATTCATGGATTTATGTACATTAGTAAATTTATAAATATTTCATATGTTTAATTTATATTTAATTTTTATATTATATAAAAGTACAT... | TCTGTGAGCTGTGGATCCGGGACACCAAGTACGTGCAGCAGCCCTGCGTGGCCCTGACTGTGTACGTGGCCATGTGCCACAAATTTCATGTGTGCATCGAGTGGCGGCGCTCTGACTACTGCCGTGAGTTTGCGGGGCAGGGGGACCCTCCATTGTGACTATTGTTCCCATCCCCTGTTAAAGTGGGAAAAGGCTCCCGGCCCCAAGTTCATGTATGCTTTCCCAGCTTTAATCATTCATGGATTTATGTACATTAGTAAATTTATAAATATTTCATATGTTTAATTTATATTTAATTTTTATATTATATAAAAGTACAT... | pathogenic | 173,293 |
Variant on chromosome 11, at position 17634218, affecting OTOG (otogelin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_18B', 'OTOG-related_disorder', 'Rare_genetic_deafness'] | TGGCCATGTGCCACAAATTTCATGTGTGCATCGAGTGGCGGCGCTCTGACTACTGCCGTGAGTTTGCGGGGCAGGGGGACCCTCCATTGTGACTATTGTTCCCATCCCCTGTTAAAGTGGGAAAAGGCTCCCGGCCCCAAGTTCATGTATGCTTTCCCAGCTTTAATCATTCATGGATTTATGTACATTAGTAAATTTATAAATATTTCATATGTTTAATTTATATTTAATTTTTATATTATATAAAAGTACATTTTATACTAATGAACACATTTATTATGATTCATATGAACATATTAACACATAGTAATTGTATTGTT... | TGGCCATGTGCCACAAATTTCATGTGTGCATCGAGTGGCGGCGCTCTGACTACTGCCGTGAGTTTGCGGGGCAGGGGGACCCTCCATTGTGACTATTGTTCCCATCCCCTGTTAAAGTGGGAAAAGGCTCCCGGCCCCAAGTTCATGTATGCTTTCCCAGCTTTAATCATTCATGGATTTATGTACATTAGTAAATTTATAAATATTTCATATGTTTAATTTATATTTAATTTTTATATTATATAAAAGTACATTTTATACTAATGAACACATTTATTATGATTCATATGAACATATTAACACATAGTAATTGTATTGTT... | pathogenic | 173,297 |
Variant in gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2), located at chromosome 11 position 18283870: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_5'] | ACATCAGTCTCAGTCTCCTCATGTTAGTGATGGGTCGGGACTAAATGATCTCCACATCTACATCTGAAAGTCTGTGGCCTTCTACCTTCTCCAAGCACTATGCAGAGGGTAGGACAAACTGATATTACCTCTGCCTTTTCTCAGCAATCCTCAGGATATCGCAGGTTCTGGTAAACTTCTCTGACAACTCAAGGGCCAGACCACATTCCTGTAGCAGTGACCAAGCCCGATCTGGGCCCATGGCCTTAGCTAACAGAAGTGCCACATTCTCCACATTGATGGGGGAAGGCCCATCACTGAGGCTCCCATTTAGTGACTCC... | ACATCAGTCTCAGTCTCCTCATGTTAGTGATGGGTCGGGACTAAATGATCTCCACATCTACATCTGAAAGTCTGTGGCCTTCTACCTTCTCCAAGCACTATGCAGAGGGTAGGACAAACTGATATTACCTCTGCCTTTTCTCAGCAATCCTCAGGATATCGCAGGTTCTGGTAAACTTCTCTGACAACTCAAGGGCCAGACCACATTCCTGTAGCAGTGACCAAGCCCGATCTGGGCCCATGGCCTTAGCTAACAGAAGTGCCACATTCTCCACATTGATGGGGGAAGGCCCATCACTGAGGCTCCCATTTAGTGACTCC... | pathogenic | 173,429 |
Determine if the mutation at chromosome 11, position 18285367 in gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hermansky-Pudlak_syndrome_5'] | ATGGGAAATTAAAAAAAAAAAAAAAAAAGAGCCTAAGCACAAATTTTGGAGGAAGTCCTTGGTCTGAACCCCAGCTCCAGCATTTACAATTAGTAGCTGTGTGACTTTGGGCCAATTAACTGTCCCTTCTGTACCTCAGTTATCTGGAAAGTGGAAATAATAGTAACTATCCCCAGAGTTTGTTATCTCATTTAAAACAACATATGGAAAGCACACAGTATAGTGCCTAACACATAGTAGGCACTCATGAAATAGAAAAGTTGCCTATAGTTTATTCTTAATTGTGATTTCATAACATATCAAGGGCTATAGGTAAAAAA... | ATGGGAAATTAAAAAAAAAAAAAAAAAAGAGCCTAAGCACAAATTTTGGAGGAAGTCCTTGGTCTGAACCCCAGCTCCAGCATTTACAATTAGTAGCTGTGTGACTTTGGGCCAATTAACTGTCCCTTCTGTACCTCAGTTATCTGGAAAGTGGAAATAATAGTAACTATCCCCAGAGTTTGTTATCTCATTTAAAACAACATATGGAAAGCACACAGTATAGTGCCTAACACATAGTAGGCACTCATGAAATAGAAAAGTTGCCTATAGTTTATTCTTAATTGTGATTTCATAACATATCAAGGGCTATAGGTAAAAAA... | pathogenic | 173,431 |
Benign or pathogenic: chromosome 11, position 18291506, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) variant? Disease(s) if pathogenic? | pathogenic; ['HPS5-related_disorder'] | ATCACATAATAGAGACAGATACAGTAAATTTCCAATGAGTAATAATGTCACACATTTGAACTTACCTGAGGAGAAATAGCTTGTTTCTTATTTCACACAAAAGACAATCTACCTCAACTCAGAAAAAAAAAAATTATTATGCTTTTAACTGCTATATTTGAATTAAAGCAGATCTGTAACTATAGATCCATGTTTCTAGAAAGCTAAAATATCTTTAAGTAAGATGACATAAAAATGTATCTCTATTCACTTTTGGTAATGAATGAAAAGTTGCTTAAAGTCTAAAGTATTAGAAATATGGCATCTGTTATTCAAGTAGG... | ATCACATAATAGAGACAGATACAGTAAATTTCCAATGAGTAATAATGTCACACATTTGAACTTACCTGAGGAGAAATAGCTTGTTTCTTATTTCACACAAAAGACAATCTACCTCAACTCAGAAAAAAAAAAATTATTATGCTTTTAACTGCTATATTTGAATTAAAGCAGATCTGTAACTATAGATCCATGTTTCTAGAAAGCTAAAATATCTTTAAGTAAGATGACATAAAAATGTATCTCTATTCACTTTTGGTAATGAATGAAAAGTTGCTTAAAGTCTAAAGTATTAGAAATATGGCATCTGTTATTCAAGTAGG... | pathogenic | 173,443 |
Is chromosome 11, position 18291804, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hermansky-Pudlak_syndrome_5'] | TGGCATCTGTTATTCAAGTAGGATTTGGAATTAAGAAAATTCACTTCTTCAAAAACATGGGACTATGGCTGCAGAAAGGGCAATGCATATAGTTTTTAGGGTATGATAGCTGGTTTCTATTATATGTCAGGATGACATATGCGACCTTCCGCCAAGGTAGATACTGCGGGCTATGCACCAAAGTCTCTGAGGCAGACATGTAAGCGAGCTCTTCACCTATATTCATTCTTTTCCTCCTGGACAGGTTACATTTCCCAGTTTCCTTTGCAGTTAGTTGTGGCTATATGACAGAATTCTCATCAATGGAAATGTACACAGAA... | TGGCATCTGTTATTCAAGTAGGATTTGGAATTAAGAAAATTCACTTCTTCAAAAACATGGGACTATGGCTGCAGAAAGGGCAATGCATATAGTTTTTAGGGTATGATAGCTGGTTTCTATTATATGTCAGGATGACATATGCGACCTTCCGCCAAGGTAGATACTGCGGGCTATGCACCAAAGTCTCTGAGGCAGACATGTAAGCGAGCTCTTCACCTATATTCATTCTTTTCCTCCTGGACAGGTTACATTTCCCAGTTTCCTTTGCAGTTAGTTGTGGCTATATGACAGAATTCTCATCAATGGAAATGTACACAGAA... | pathogenic | 173,447 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 18296884, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): what disease(s) if pathogenic? | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_5'] | AAAAAAATCACAAAAAAACTCATGTTTTCAGAAACTTTACAAATTTGTGTTGGGCCACGTTCAAAGCCGTCCTGGAACACATGAGGCCCACGGGCCACAGGCTGCACAAGGTTGGTCTATGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCA... | AAAAAAATCACAAAAAAACTCATGTTTTCAGAAACTTTACAAATTTGTGTTGGGCCACGTTCAAAGCCGTCCTGGAACACATGAGGCCCACGGGCCACAGGCTGCACAAGGTTGGTCTATGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCA... | pathogenic | 173,462 |
The chromosome 11, position 18297003 genetic variant in gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | benign | 173,464 |
Evaluate the clinical significance of the mutation at chromosome 11, position 18297003 in gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | benign | 173,465 |
Variant at chromosome position 18297003, chromosome 11, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | TGGCTTTCTTAAAACTGACAGCTGGATTCCCTAGAATGTATAGAGATTTATGTGTAAGGGCTTACTCAGTGTCTTCCTCCTTTGGGCAGGTATCTGAACTCACATCCTCTTCACATGATTGCTCATCACCCCTGAGCTCTGGTCTCACTTTCAGATCAGGGCTCGTGTGAAGGGTGCCAATCTTCTCAGTAGTTTTACGCACAAAGCTAGAAACACTAGAAGTCAAATAACAAAAAACTAACATGAATAAAAACTTATTACTGAGAAAACTCAGGTTTTCATTCTTCAGTTTTCTCCCTAATAAGTCCTAGGGAGGCAAC... | benign | 173,466 |
Regarding the variant at chromosome 11 and position 18297629, affecting gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hermansky-Pudlak_syndrome_5'] | GAGCAGTTAAGTAGCTGCACAAAGTCTTCTCTCTTAAACTCAAATGTCAACCCTGGTCCCATGGAGTAGCTAGAAAAGAATTCTGAAAAGACTCCAAGTCTGAGCCCAAACTGACCATTAGAAAGGATCAGCTAAAGACTAATGATACGTGGAAACTATTACCATCAGAGATTTTTAATTTTTGATCTCTTGAGGGTGGGGGCACCTACATCTGCAACAACTCAAATACCAGCTGCTAAAACAGAGGGAAGCTAGACTCTCCCCAAGGTAAATGAGAAGTTAATAGCTCCATATGACAAGTTATATGGAAAACAAGAGAC... | GAGCAGTTAAGTAGCTGCACAAAGTCTTCTCTCTTAAACTCAAATGTCAACCCTGGTCCCATGGAGTAGCTAGAAAAGAATTCTGAAAAGACTCCAAGTCTGAGCCCAAACTGACCATTAGAAAGGATCAGCTAAAGACTAATGATACGTGGAAACTATTACCATCAGAGATTTTTAATTTTTGATCTCTTGAGGGTGGGGGCACCTACATCTGCAACAACTCAAATACCAGCTGCTAAAACAGAGGGAAGCTAGACTCTCCCCAAGGTAAATGAGAAGTTAATAGCTCCATATGACAAGTTATATGGAAAACAAGAGAC... | pathogenic | 173,467 |
Clinical significance of chromosome 11, position 18305429, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hermansky-Pudlak_syndrome_5'] | AATAGGTTGTCTAACGTAAGCCTCTTTGAGGAATCAGCAGAAGTTTCAAAGTGGCGTTAATTGTTGCTTTAGCTGAGGAATAGGCAGAGCCAGATCATCAAAGGCTTTTTGTCTACCATGGTAGGGACTATAACAGCAGCTTTAAATAGCTACAGCCAAAAGAATAACTCTACCAGGAGAGCTAAGTGTATTGTGGCCCGACTACTAGAAAACATATTCTTGGGTACTTTGGGAAGCCGATGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCCCTACTAAAATACAAA... | AATAGGTTGTCTAACGTAAGCCTCTTTGAGGAATCAGCAGAAGTTTCAAAGTGGCGTTAATTGTTGCTTTAGCTGAGGAATAGGCAGAGCCAGATCATCAAAGGCTTTTTGTCTACCATGGTAGGGACTATAACAGCAGCTTTAAATAGCTACAGCCAAAAGAATAACTCTACCAGGAGAGCTAAGTGTATTGTGGCCCGACTACTAGAAAACATATTCTTGGGTACTTTGGGAAGCCGATGCAGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCCCTACTAAAATACAAA... | pathogenic | 173,481 |
Evaluate if the mutation on chromosome 11 at position 18306219 in HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['HPS5-related_disorder', 'Hermansky-Pudlak_syndrome'] | TGAAGAATTATGGAGTTACTAAAGTGTTATAATGTCTATAATTCACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTACTAGCTGGGATTACAGGAGCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGATAGGCTAGTCTTGAACTCCCGACCTCAGAAGATCTGTCCGCCTCGGTCTCCCAAATTGCTGGGATTA... | TGAAGAATTATGGAGTTACTAAAGTGTTATAATGTCTATAATTCACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTACTAGCTGGGATTACAGGAGCATGCCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGATAGGCTAGTCTTGAACTCCCGACCTCAGAAGATCTGTCCGCCTCGGTCTCCCAAATTGCTGGGATTA... | pathogenic | 173,486 |
Does the chromosome 11 mutation at position 18309013 within gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_5'] | TTACTCTCCATGATTCCATCATTCCTCCTCAGAAACTTATCATTCCTCCTCAGAAACTTTCCTTGATTCCCATATATGGAATTACACGCTTCCTATGCTTTGCTTTCATAGCACTTATGACATGATATATGGCAATTATGTCTATTTAAACAGCAGATCATGACTTTTCAAGGCAAAGGACAATTCTTATTCCTCTTTGGTTGAATTCCCAGTGTGTAGCACAGTGTCAGGCCTACAAAAAGCACTCAATACATTATAGAGTTCCATAAACTCAATCTCTTTTATTGAAGAGTGATCTAATATGCTCTCTAGCATGAATT... | TTACTCTCCATGATTCCATCATTCCTCCTCAGAAACTTATCATTCCTCCTCAGAAACTTTCCTTGATTCCCATATATGGAATTACACGCTTCCTATGCTTTGCTTTCATAGCACTTATGACATGATATATGGCAATTATGTCTATTTAAACAGCAGATCATGACTTTTCAAGGCAAAGGACAATTCTTATTCCTCTTTGGTTGAATTCCCAGTGTGTAGCACAGTGTCAGGCCTACAAAAAGCACTCAATACATTATAGAGTTCCATAAACTCAATCTCTTTTATTGAAGAGTGATCTAATATGCTCTCTAGCATGAATT... | pathogenic | 173,488 |
Clinical significance of chromosome 11, position 18312032, gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAGAGCAAGAACCTGTCTCAAAATAAAATAAAATAAATTTAGCCAATAGTAGTTAGAGCCTTTCTTTTCTGCCAGGATCCTAAATAGAAATAAGCCAATGCAAGACAAATCCCTCTACTTCTGATGTAATGGTCGTGGAGGAGCAGGACAATGAGAAGCTGGTCTATTCTGTCTTAATGACAGACTGGAGCATTCTGTTAGGGTAACCTGAGTCTCAACCCTTCTACTTAGCCATAACTGCAGCAAGAAGCCTGAGGACCTGCAGAGCAGAGCAAAGCCAGAAGGTGTCTTCAAGATTCCATTCAAAATAAGTTATATCC... | CAGAGCAAGAACCTGTCTCAAAATAAAATAAAATAAATTTAGCCAATAGTAGTTAGAGCCTTTCTTTTCTGCCAGGATCCTAAATAGAAATAAGCCAATGCAAGACAAATCCCTCTACTTCTGATGTAATGGTCGTGGAGGAGCAGGACAATGAGAAGCTGGTCTATTCTGTCTTAATGACAGACTGGAGCATTCTGTTAGGGTAACCTGAGTCTCAACCCTTCTACTTAGCCATAACTGCAGCAAGAAGCCTGAGGACCTGCAGAGCAGAGCAAAGCCAGAAGGTGTCTTCAAGATTCCATTCAAAATAAGTTATATCC... | benign | 173,503 |
Regarding the variant at chromosome 11 and position 18317776, affecting gene HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hermansky-Pudlak_syndrome'] | ACAGACCGGGAGTCATCATCATGCCCAGATAGACTTTTCATTTATTCTTCTGAAGGTAGCTCCAAGAGTTTATCTGGGGGATTTTACCTGCATAAGTCAGATTGTTCCTATGCAGCTCCATCCCTCACCTTCCCATGTCTGCCTCCCACTTGCTAGGTCTATTCATTCTCCATAATGATTTATTGCCACTCAAAACAATCATCTACATTCTCCATATCCCCACTTCCCTATGAAAGAGGGTACACACAGCCAGGCATGGTGGCTCCCTCCTGTTATCCCAGTGCTTTAGGGAAGCCAAAGGCCAAGGCACATGATTGCTT... | ACAGACCGGGAGTCATCATCATGCCCAGATAGACTTTTCATTTATTCTTCTGAAGGTAGCTCCAAGAGTTTATCTGGGGGATTTTACCTGCATAAGTCAGATTGTTCCTATGCAGCTCCATCCCTCACCTTCCCATGTCTGCCTCCCACTTGCTAGGTCTATTCATTCTCCATAATGATTTATTGCCACTCAAAACAATCATCTACATTCTCCATATCCCCACTTCCCTATGAAAGAGGGTACACACAGCCAGGCATGGTGGCTCCCTCCTGTTATCCCAGTGCTTTAGGGAAGCCAAAGGCCAAGGCACATGATTGCTT... | pathogenic | 173,505 |
For chromosome 11, position 20601443, gene SLC6A5 (solute carrier family 6 member 5): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hyperekplexia_3'] | TGAGTCACGCCAAACACGCAGCCCCCTCCCGCTGGAGTGACAACTGGCCAGCATACTCTAGGCTGTTGTCCCTTTAAAACTTGAATCCAAGGGGGTAATGATTTATCAAACTTGTATTATCAAGAAAATGTCAAACCAAGGGCACCTTGCTTTGCACTGACGCAAACCCGGCCTTTCCCAAGGAGATATAGAAAGCGCCTCTCCTGCCTGAGCCAAACCCAGTCTTGTCAATAGCGGGTTTCACCCTCCACCAGTTCAGTCTGTTGCCTGTGTCAGACATGGTGAGTGTTTGCTTTTGTTCTTTCAAGAGGAAAGGGGGC... | TGAGTCACGCCAAACACGCAGCCCCCTCCCGCTGGAGTGACAACTGGCCAGCATACTCTAGGCTGTTGTCCCTTTAAAACTTGAATCCAAGGGGGTAATGATTTATCAAACTTGTATTATCAAGAAAATGTCAAACCAAGGGCACCTTGCTTTGCACTGACGCAAACCCGGCCTTTCCCAAGGAGATATAGAAAGCGCCTCTCCTGCCTGAGCCAAACCCAGTCTTGTCAATAGCGGGTTTCACCCTCCACCAGTTCAGTCTGTTGCCTGTGTCAGACATGGTGAGTGTTTGCTTTTGTTCTTTCAAGAGGAAAGGGGGC... | pathogenic | 173,635 |
Does the variant on chromosome 11 at location 20604417 affecting gene SLC6A5 (solute carrier family 6 member 5) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hyperekplexia_3'] | TGAAAAACCCACAGAGCAAATCCCAATCCTTGGGTTATGAATAAAGGCAGCTTTTGCTGGTGGCCCACTCTCTCATATAGGCTTTTGTTCTCTTCAATTTCCCTCTCGTCTCTCTCCTTCCTTCTCTGATCTCTTCTTTCTTCTGTCCTTTTTCATCAACTTCAGCTCTTCCCTTCTCACTGCCTGCCTTTCTGCTATTTCCTCTCCTTTCCTGGCCTCAGGGGCTATGCATATATCCAGCAGTGGGGCCTGGACCAAAATTTGTGCCTGTGTGAGGTTTAGGATTTATACAACCCTTCTATCCTTAGTCACTTTAGTGT... | TGAAAAACCCACAGAGCAAATCCCAATCCTTGGGTTATGAATAAAGGCAGCTTTTGCTGGTGGCCCACTCTCTCATATAGGCTTTTGTTCTCTTCAATTTCCCTCTCGTCTCTCTCCTTCCTTCTCTGATCTCTTCTTTCTTCTGTCCTTTTTCATCAACTTCAGCTCTTCCCTTCTCACTGCCTGCCTTTCTGCTATTTCCTCTCCTTTCCTGGCCTCAGGGGCTATGCATATATCCAGCAGTGGGGCCTGGACCAAAATTTGTGCCTGTGTGAGGTTTAGGATTTATACAACCCTTCTATCCTTAGTCACTTTAGTGT... | pathogenic | 173,646 |
The mutation in gene SLC6A5 (solute carrier family 6 member 5) at chromosome 11, position 20617903—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGAGGCTGCCTGTCGCATGTAAGGAAAGCCACTGGTGCCCAGCTCCTCTGATCACTGCCTTGTGAAAATGTGGGGCAGTGATGCCAGAGCTTCTATTTTACAATAAAAGATGGAAATAAAGTCTGGATTTTTATGTGATCTCTCCTATTTTAAATGGCAGCAAAATAATTCAAATAGAACATGGGGATCAAATAAAATGCATAAATCAATGAGCCTCCAGTTTGTGGCTTTCACTTAGATGACGACAAATGATTGCTAATACCATGACTCTTCTCCCAGTTGTCATTATTTCCTACTCCTGGTTTTCTTTCCTGTAGACT... | AGAGGCTGCCTGTCGCATGTAAGGAAAGCCACTGGTGCCCAGCTCCTCTGATCACTGCCTTGTGAAAATGTGGGGCAGTGATGCCAGAGCTTCTATTTTACAATAAAAGATGGAAATAAAGTCTGGATTTTTATGTGATCTCTCCTATTTTAAATGGCAGCAAAATAATTCAAATAGAACATGGGGATCAAATAAAATGCATAAATCAATGAGCCTCCAGTTTGTGGCTTTCACTTAGATGACGACAAATGATTGCTAATACCATGACTCTTCTCCCAGTTGTCATTATTTCCTACTCCTGGTTTTCTTTCCTGTAGACT... | benign | 173,657 |
Variant on chromosome 11, at position 20628013, affecting SLC6A5 (solute carrier family 6 member 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Exaggerated_startle_response', 'Hyperekplexia_3'] | CAGCTGATGCCTGGCATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCAC... | CAGCTGATGCCTGGCATAGTGCCCAGCTCATAGGAGGCCCTCAATAAATATTTGTTGAACTTAATGTCATTTAATGACCTGCTGTTATAAATCAGGCACCATGCTAGGTCCTATCCATGCATTAGCTCATTGAATCCTCACGATTATCTGTAAGAAAGGTGCTATTATCCTTGATTTACAGATACTGAAACTAAGATTCAGAGAGCTTAATAAATGTCTAAGGTCACACAGCTAGTCAGTGCCAGATGTACAGTTTCATTTGAACCTAAATGCGTCTAATTCTAATATCATGTTCTTCTGACCTTATGGGACTGCCTCAC... | pathogenic | 173,671 |
Variant on chromosome 11, at position 22193331, affecting ANO5 (anoctamin 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGGCCAGGTGGAGATAATAATGGGGGTGGTTTCCCCCATGCTATTCTAGTGATAGTGAATAAGTTTCAGGAGATCTGATGGTTTTATAAATCGGAGTTCCCCTGCACAAGCTCTTGCCCTCCCCCCATGTAAGACGCACCTTTGCTTTTCCTTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGGGAGTCCATTAAACCTCTTTCATTTATAAATTACCCAGTCTCAAGTATGTCTTTATTAGCAGCATAAGAACAGACTAATACAGTCACTCCCTCCTCATCACTCAAGGCTCTCAGCTGAGAC... | AGGGCCAGGTGGAGATAATAATGGGGGTGGTTTCCCCCATGCTATTCTAGTGATAGTGAATAAGTTTCAGGAGATCTGATGGTTTTATAAATCGGAGTTCCCCTGCACAAGCTCTTGCCCTCCCCCCATGTAAGACGCACCTTTGCTTTTCCTTTGCCTTCTGCCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGGGAGTCCATTAAACCTCTTTCATTTATAAATTACCCAGTCTCAAGTATGTCTTTATTAGCAGCATAAGAACAGACTAATACAGTCACTCCCTCCTCATCACTCAAGGCTCTCAGCTGAGAC... | benign | 173,705 |
Variant chromosome 11, position 22203784, gene ANO5 (anoctamin 5): benign or pathogenic? Disease(s)? | benign | TAACAAATCCATTCTTGCTATTACAAATCTATTCCTGTGATAACAGTGCTAATTCATTTATGAAGGCAGAGCACTCATGACCTAATCACCTCTTAAAGGGCCTACCTCTCAACATTGTTGCATTGCAGATTGTTTCTGACACATAAACTTTGGGAGACAAATTCAATCCATAGCAGAGAGCATTCCTTACAGAGGAATAATTGTGTGTTAAGGCCCCTCAAAGAGGGAGAATGGAACTGAAAGAAGGTATAAGGATCTGAAAGGAGACTAGTGGGCCAGACTTAAGAGCGTGAAAGGGTGAGGTTGGAGAGGTTGGTTGG... | TAACAAATCCATTCTTGCTATTACAAATCTATTCCTGTGATAACAGTGCTAATTCATTTATGAAGGCAGAGCACTCATGACCTAATCACCTCTTAAAGGGCCTACCTCTCAACATTGTTGCATTGCAGATTGTTTCTGACACATAAACTTTGGGAGACAAATTCAATCCATAGCAGAGAGCATTCCTTACAGAGGAATAATTGTGTGTTAAGGCCCCTCAAAGAGGGAGAATGGAACTGAAAGAAGGTATAAGGATCTGAAAGGAGACTAGTGGGCCAGACTTAAGAGCGTGAAAGGGTGAGGTTGGAGAGGTTGGTTGG... | benign | 173,709 |
Is the chromosome 11, position 22211278 variant in ANO5 (anoctamin 5) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L', 'Gnathodiaphyseal_dysplasia'] | TTACAGTCTTGTTGGAAATCAGAAAATGCATGTGAATTAAACATGCATGACATGATTAATATATTTATTACATGATCACTAGAAAGTAACAAACATTAATTTTAAAAAGTCAACATTTATGGAGAACTTCCCATGTATTATTTAATCTCACTGTATGGACTTTATGGTTTGGAGAGGTTAACTTGCTCAAGTTTACAAATGTAATCAGTTTTACATATGTATTTAATGGGGTTTATATAATTGAAGAAAAAGGTTATGAGGCAAACTGAAACTATATAAATTGTTTTATTGTTATGTCTCCTATGTTTTGGAGCTGGGAT... | TTACAGTCTTGTTGGAAATCAGAAAATGCATGTGAATTAAACATGCATGACATGATTAATATATTTATTACATGATCACTAGAAAGTAACAAACATTAATTTTAAAAAGTCAACATTTATGGAGAACTTCCCATGTATTATTTAATCTCACTGTATGGACTTTATGGTTTGGAGAGGTTAACTTGCTCAAGTTTACAAATGTAATCAGTTTTACATATGTATTTAATGGGGTTTATATAATTGAAGAAAAAGGTTATGAGGCAAACTGAAACTATATAAATTGTTTTATTGTTATGTCTCCTATGTTTTGGAGCTGGGAT... | pathogenic | 173,712 |
Considering the variant on chromosome 11, location 22218075, involving gene ANO5 (anoctamin 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TATTGCTCAGTAATATTTCATTGTATGGATATACTGAAATTTATTTGTCCACTCATCCATTGATGGATATTTGGATAGTTTTCAGTTTCAAGACCATTATGAATAAGGCTATTATGAACATTCATGTAAGAAGTGTTTTTAGAGATGTATGTTTTCATTAATCTTGGGTAATTTCCTAGGAGTAGAATTTCTGGGTCATGTGGAAAATATAGGTGTAACTTTATGTAAAACTGTCACACTATTTTTAAAAGTGGTTGTACCATTTTTTATTCCTGCCAGCAATGTACGAGAGTTCTTTTTGCTGTACATCTTCACCAACA... | TATTGCTCAGTAATATTTCATTGTATGGATATACTGAAATTTATTTGTCCACTCATCCATTGATGGATATTTGGATAGTTTTCAGTTTCAAGACCATTATGAATAAGGCTATTATGAACATTCATGTAAGAAGTGTTTTTAGAGATGTATGTTTTCATTAATCTTGGGTAATTTCCTAGGAGTAGAATTTCTGGGTCATGTGGAAAATATAGGTGTAACTTTATGTAAAACTGTCACACTATTTTTAAAAGTGGTTGTACCATTTTTTATTCCTGCCAGCAATGTACGAGAGTTCTTTTTGCTGTACATCTTCACCAACA... | benign | 173,715 |
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