question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the chromosome 3 mutation at position 128912545 within gene ACAD9 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Acyl-CoA_dehydrogenase_9_deficiency'] | GCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTG... | GCAGATACCAGGATTGTGACATCTGCCTTTCAGAGGAAACAGGGTCAGAGATGTTGAGTCACTTGCTGTTGGGGAAAGGCTGTTGGATCAGGGCTGGAATTAGAACCCAAGACGGGGTGACTCCTGTGCCAGGCCTTGTGACCCCTGCCATGCTACCCAGTTTGGCTGATAGGCTGGGTTTTTGAAGCTCAGAGGTCTGATTCCAGGAATTTGGGCATATCTTTTCTGTCCTCGGTTCTGGCAGGTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTG... | pathogenic | 73,763 |
Evaluate this variant at chromosome 3, position 128912829, gene ACAD9: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCA... | AGAATCTCTTCAGCCTCTCTCAGCTGGACAAGTGTGAGTGGCATGTCTTGGGGGAGGGAAGGAAGGGCCCACTTCTAGGCCCCTATTGATGGTGAGCTGTTTCTGGACCCTGTCAAGCTCCCAGAGCCTGCTAGCTACTCACAGACCTCTGCCTTGAGCGAGGGCCTGGGTAGGCCTGGGCTTAGCTGCAGCAGTGCCCACCAGGCACTGTAGGTGCATACCTGCCCCATTCACCAAGGCAGTTGTATGTATATATGTGTGTGTGTGTATGTATGTATGTATGTATTTATTTCGAGATGGAGTTTCGCTCTTGTTGCCCA... | benign | 73,768 |
Is chromosome 3, position 129062043, gene GP9 (glycoprotein IX platelet) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bernard_Soulier_syndrome'] | CCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGA... | CCAGGCTGGAGTGCAATGGCACGGTCTCGGCTCACTGCCACCTCTGCCTCCTGGGTTCAAGCAATTCTCCATCCCAAAATATATTTATCTTTTAAAGGAAGCTTTATGTCACTAACATAAATGGAAAATGGTGTCCCTCCCCTAAGTAGAATGTGCTCTAGAAGAAAATGTACTGCAAATGTTAAAACCATAGGCCAAAATTCTAGCTAGAGATTCACACTTGGTAGAGGCTCTGCTTCCCAGGCCTACAGCTGTTTGTTAGAAAGAGGCATGGAGAAGCACTAGGCAGGAGCTAAAAACACCATGGCACCAAGAAGAGA... | pathogenic | 73,780 |
Determine whether the variant at chromosome 3, position 129062415, in gene GP9 (glycoprotein IX platelet) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAA... | CTCCCCACCATGGTGTTCTCAGCCAGTGGGAGCTGCCCAGCCCACACCTCTGTGAGGCAGGCAGGACCGGTCACTGCTCCCACTTTACAGATGAGGAAAACTGAGATTCGGAGGAACAACCAGCAGAGCCACGTTTCTCAGGGGTCTCCTAGTTCCCACCTTCTGGGAGCAGGTGAGGGGCCACCCTCAGTCCTCCACAGACCTGATTCCAAAGCCCATCAAGGCACTGGCGGCACAGTGGGACCCCCTTCTATAAACCGGGGTTGAGATGTGGTTCTGTGCCCAAGGCGCGGGCCCCTGAGGGCCTCCTGCCTCTGGAA... | benign | 73,790 |
Variant in MBD4 (methyl-CpG binding domain 4, DNA glycosylase), chromosome 3, position 129433215—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'MBD4-related_disorder'] | CCTAGCTTTAGCAAGGCTGATAGAAATTTGCTTTGTATTATTGATAGTTTAGAACTATTTTTCATCTTCTGATTATATTTCATCATTGGAAAAGCCGTATTTTTTTTGGATTGTTGTCAAATAATAATTTATTTTAAAAAAATCTCAAAACATGTTCAAACACATTCAGTAGCAAAGATCCACCATTGGCACACACATTAAGAAAGCACACACACTAGGCTTCTAGTTGGGCTAATTAAAATCTCTATGGCTGGAAAGGTGGTTGGTTGTACTTAATTAAGCTTTTTTGAAGTGCAAAGCTATGCATAACAGATGAGCTT... | CCTAGCTTTAGCAAGGCTGATAGAAATTTGCTTTGTATTATTGATAGTTTAGAACTATTTTTCATCTTCTGATTATATTTCATCATTGGAAAAGCCGTATTTTTTTTGGATTGTTGTCAAATAATAATTTATTTTAAAAAAATCTCAAAACATGTTCAAACACATTCAGTAGCAAAGATCCACCATTGGCACACACATTAAGAAAGCACACACACTAGGCTTCTAGTTGGGCTAATTAAAATCTCTATGGCTGGAAAGGTGGTTGGTTGTACTTAATTAAGCTTTTTTGAAGTGCAAAGCTATGCATAACAGATGAGCTT... | pathogenic | 73,815 |
Is the genetic variant on chromosome 3, position 129436638, gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases'] | ACTTCTAAATGAAAAAGCAAGAGTCTACATATGATCCCAATTTTATAAAAAAGGGGAAACATATATAAATAACAATACAGAAGTTAAGAATGAAATAAGCCAAAATGATATAATGGTTGTTGCCAAGTGCTAATTTTTCTTTCCTTCTTTACTTTTCTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAG... | ACTTCTAAATGAAAAAGCAAGAGTCTACATATGATCCCAATTTTATAAAAAAGGGGAAACATATATAAATAACAATACAGAAGTTAAGAATGAAATAAGCCAAAATGATATAATGGTTGTTGCCAAGTGCTAATTTTTCTTTCCTTCTTTACTTTTCTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAG... | pathogenic | 73,841 |
Variant on chromosome 3, at position 129436698, affecting MBD4 (methyl-CpG binding domain 4, DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases'] | ATATATAAATAACAATACAGAAGTTAAGAATGAAATAAGCCAAAATGATATAATGGTTGTTGCCAAGTGCTAATTTTTCTTTCCTTCTTTACTTTTCTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAAT... | ATATATAAATAACAATACAGAAGTTAAGAATGAAATAAGCCAAAATGATATAATGGTTGTTGCCAAGTGCTAATTTTTCTTTCCTTCTTTACTTTTCTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAAT... | pathogenic | 73,843 |
Is chromosome 3, position 129436794, gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases'] | CTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAATATCAGTTAATAATACCTTGCATTTGTATAGCATCTTTTTCACTTCTCATTTTACAATATTTTTGATGTGAAAAACAGGACTAGTCAGGATGGTTAC... | CTGTATTTTCCAAAATTTCTGCAGTGAACACTTACTTTTACGCTTACCAAAAAAAGGGATACAGACAAAACAGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAATATCAGTTAATAATACCTTGCATTTGTATAGCATCTTTTTCACTTCTCATTTTACAATATTTTTGATGTGAAAAACAGGACTAGTCAGGATGGTTAC... | pathogenic | 73,850 |
Variant in gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase), located at chromosome 3 position 129436865: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | AGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAATATCAGTTAATAATACCTTGCATTTGTATAGCATCTTTTTCACTTCTCATTTTACAATATTTTTGATGTGAAAAACAGGACTAGTCAGGATGGTTACCTCTATTTTACAGATGAAGAAAGTGAAGCTTCTAAATGAAGCAATCATCCCAAAATGATACTGGGATTGAC... | AGAATCTGCAGAAAAACCTACAATTTGAACCCTAGAACACCTGAGACAACTACCTATTGAGAACCTCTATCTATTGGGAACCAGTGTTATCAGACTTCTCAAATTTCTAAAATCACATGTAATACTCCTTAACCATACCCTCGCAATTTGAATATCAGTTAATAATACCTTGCATTTGTATAGCATCTTTTTCACTTCTCATTTTACAATATTTTTGATGTGAAAAACAGGACTAGTCAGGATGGTTACCTCTATTTTACAGATGAAGAAAGTGAAGCTTCTAAATGAAGCAATCATCCCAAAATGATACTGGGATTGAC... | pathogenic | 73,854 |
Located at chromosome 3 position 129437119, the variant affecting gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases'] | TTTTACAGATGAAGAAAGTGAAGCTTCTAAATGAAGCAATCATCCCAAAATGATACTGGGATTGACTATAAACTGGAACAAGTATCCAGGTCTCCAGATAATTAGACTACTGTTTTTTCGCTATTTTAGTTTGAGTAGGTAAAGCCCAGTAGAGAGTAAAAAAAAAAAAGAACAAAGGAAACTGCTCTGACTGCTCTGATTTGACAACTTTTTCTGTGGGCTCCTATGAATAATTACTAGTCTCCTTTATGCCAGGTTTACTTGGCAATTTCTAGCTAAGCCAATGGGTGTCTTCACTATTTCATGGACACCTCGTACTA... | TTTTACAGATGAAGAAAGTGAAGCTTCTAAATGAAGCAATCATCCCAAAATGATACTGGGATTGACTATAAACTGGAACAAGTATCCAGGTCTCCAGATAATTAGACTACTGTTTTTTCGCTATTTTAGTTTGAGTAGGTAAAGCCCAGTAGAGAGTAAAAAAAAAAAAGAACAAAGGAAACTGCTCTGACTGCTCTGATTTGACAACTTTTTCTGTGGGCTCCTATGAATAATTACTAGTCTCCTTTATGCCAGGTTTACTTGGCAATTTCTAGCTAAGCCAATGGGTGTCTTCACTATTTCATGGACACCTCGTACTA... | pathogenic | 73,866 |
Variant in gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase), located at chromosome 3 position 129437805: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | TACAGGGCTGCTCAAAAGGTCTCCCTTTTATCTCTTATTCACTGAGGTATTATAAAGACAAAACTGCTAAGTTCTGAATTCTGTATTAAGAGCATATTACAAATAATAGATGAACTATGTGATTATACTTTTGAATTATTTAGAGCTCTAAAGCATTTTAGAGAAGCATTACATTAAAATAGAAGATAAAAATGACTATGATATATACAAAATTAAATTGGAAGTCACACTTAGTAGTAAGTATCAGGAGGGGTGTGAAGACACCAACTATTCTCCACTCATTTATGTATATAAGAAGCCTTCCCTAAATTTTTCACAAG... | TACAGGGCTGCTCAAAAGGTCTCCCTTTTATCTCTTATTCACTGAGGTATTATAAAGACAAAACTGCTAAGTTCTGAATTCTGTATTAAGAGCATATTACAAATAATAGATGAACTATGTGATTATACTTTTGAATTATTTAGAGCTCTAAAGCATTTTAGAGAAGCATTACATTAAAATAGAAGATAAAAATGACTATGATATATACAAAATTAAATTGGAAGTCACACTTAGTAGTAAGTATCAGGAGGGGTGTGAAGACACCAACTATTCTCCACTCATTTATGTATATAAGAAGCCTTCCCTAAATTTTTCACAAG... | pathogenic | 73,877 |
Evaluate this variant at chromosome 3, position 129437825, gene MBD4 (methyl-CpG binding domain 4, DNA glycosylase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Inborn_genetic_diseases'] | CTCCCTTTTATCTCTTATTCACTGAGGTATTATAAAGACAAAACTGCTAAGTTCTGAATTCTGTATTAAGAGCATATTACAAATAATAGATGAACTATGTGATTATACTTTTGAATTATTTAGAGCTCTAAAGCATTTTAGAGAAGCATTACATTAAAATAGAAGATAAAAATGACTATGATATATACAAAATTAAATTGGAAGTCACACTTAGTAGTAAGTATCAGGAGGGGTGTGAAGACACCAACTATTCTCCACTCATTTATGTATATAAGAAGCCTTCCCTAAATTTTTCACAAGTGAAGGCTTTTAATTTTCCT... | CTCCCTTTTATCTCTTATTCACTGAGGTATTATAAAGACAAAACTGCTAAGTTCTGAATTCTGTATTAAGAGCATATTACAAATAATAGATGAACTATGTGATTATACTTTTGAATTATTTAGAGCTCTAAAGCATTTTAGAGAAGCATTACATTAAAATAGAAGATAAAAATGACTATGATATATACAAAATTAAATTGGAAGTCACACTTAGTAGTAAGTATCAGGAGGGGTGTGAAGACACCAACTATTCTCCACTCATTTATGTATATAAGAAGCCTTCCCTAAATTTTTCACAAGTGAAGGCTTTTAATTTTCCT... | pathogenic | 73,879 |
The chromosome 3, position 129439807 genetic variant in gene MBD4: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases'] | AATAACCTTTGCTTCACAACTCTTTCCCATCCACATGGGACAGACTTACGGCATTCTGTTCCTGCAGTAGCACCAAACTGAGCAGAAGCGATGGGTTCTTGTAGCAAGGGATTACATTCACTGCTTCTTTTTATCATCATTTGTTCCTCATCTTCTCCCACTCTTTCCAATTCCATAGCAACATCTTCTTTGCTGGAAAAACAAAGTCTAAGTGATTAACTTATTTAAAATTTATCTTCCACTGCCTACTCAGTTTTAATCCATGACAATGCAGGAACCACATAGATTATCCATATTAAAATGAGGGAGATTAAAGTCAG... | AATAACCTTTGCTTCACAACTCTTTCCCATCCACATGGGACAGACTTACGGCATTCTGTTCCTGCAGTAGCACCAAACTGAGCAGAAGCGATGGGTTCTTGTAGCAAGGGATTACATTCACTGCTTCTTTTTATCATCATTTGTTCCTCATCTTCTCCCACTCTTTCCAATTCCATAGCAACATCTTCTTTGCTGGAAAAACAAAGTCTAAGTGATTAACTTATTTAAAATTTATCTTCCACTGCCTACTCAGTTTTAATCCATGACAATGCAGGAACCACATAGATTATCCATATTAAAATGAGGGAGATTAAAGTCAG... | pathogenic | 73,891 |
Is the genetic change at chromosome 3, position 129460808, within gene IFT122 (intraflagellar transport 122) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAAAACTTTTTTCTCTTAAATTGAACTTGAAATTAAGTTGTGGGTGTGTGTGGTTGGTATAGGAAGGTTGAGTAGTGAATAAGTTAATGAATATTTCTTGGCCACTTACTGGCGTGGCCAGCACTGGGCTAGGTGCTTTTATGTAGCTCATCTCAGTTCATCTGACATTGTAGACTTTATCCCACCCCCAACCTGTCATCTTCCAGTGTCCCTGTCTCAGAGAATGGCCTTATATCCACCCAGTGTCAAATGTCAGAAACTTGGGGTCAGTGTGCTCCAGGCCTCCTCTTACTATTGGGGATCTGCCGTGTTCTTCCCCT... | GAAAACTTTTTTCTCTTAAATTGAACTTGAAATTAAGTTGTGGGTGTGTGTGGTTGGTATAGGAAGGTTGAGTAGTGAATAAGTTAATGAATATTTCTTGGCCACTTACTGGCGTGGCCAGCACTGGGCTAGGTGCTTTTATGTAGCTCATCTCAGTTCATCTGACATTGTAGACTTTATCCCACCCCCAACCTGTCATCTTCCAGTGTCCCTGTCTCAGAGAATGGCCTTATATCCACCCAGTGTCAAATGTCAGAAACTTGGGGTCAGTGTGCTCCAGGCCTCCTCTTACTATTGGGGATCTGCCGTGTTCTTCCCCT... | benign | 73,900 |
Does the genetic variant at chromosome 3, position 129460946, impacting gene IFT122 (intraflagellar transport 122), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cranioectodermal_dysplasia_1', 'IFT122-related_disorder'] | TTATGTAGCTCATCTCAGTTCATCTGACATTGTAGACTTTATCCCACCCCCAACCTGTCATCTTCCAGTGTCCCTGTCTCAGAGAATGGCCTTATATCCACCCAGTGTCAAATGTCAGAAACTTGGGGTCAGTGTGCTCCAGGCCTCCTCTTACTATTGGGGATCTGCCGTGTTCTTCCCCTGTTCCTCTACTAGTTGGTCCCTATTTACCCTGCAGATCTCAGACTCAAATGTCAGTTTCTTTGTAAGGACTTTCCTGCCTCTCTAGACTGGAACAGGTCTCTTTCGAGGCATTTCTCACAATTGCAGTTTTAGGTTTA... | TTATGTAGCTCATCTCAGTTCATCTGACATTGTAGACTTTATCCCACCCCCAACCTGTCATCTTCCAGTGTCCCTGTCTCAGAGAATGGCCTTATATCCACCCAGTGTCAAATGTCAGAAACTTGGGGTCAGTGTGCTCCAGGCCTCCTCTTACTATTGGGGATCTGCCGTGTTCTTCCCCTGTTCCTCTACTAGTTGGTCCCTATTTACCCTGCAGATCTCAGACTCAAATGTCAGTTTCTTTGTAAGGACTTTCCTGCCTCTCTAGACTGGAACAGGTCTCTTTCGAGGCATTTCTCACAATTGCAGTTTTAGGTTTA... | pathogenic | 73,901 |
Gene IFT122 (intraflagellar transport 122) variant at chromosome position 129476410 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cranioectodermal_dysplasia_1'] | AATGTTAATCACAAATCGTCTTTTTATTCACAAAAGACACCCTTGGGGCAGCAAAAAACTCCAGTGGTAATAAGGAACTTGGGCTTTAGTGGGGCAGACCTGATTAACCCTGTGTCTACAGACAACGAGAGAAGTGCAATGGGATAGGCGAGCACAAGTGCTGTGGGAGGATGAGGGGATGGGGATTGGAGATGTTCCTGGAGGAGATGACACCTGGCAGACAAAGTGAGGGAAAGAGCATTCCTGGCTGGGTCTAGGAATGGTGTGGAGTGTAGCACCTGTGAGGATGTGGAGGCCTGAAAAAGCATTGCCCGCTTAGG... | AATGTTAATCACAAATCGTCTTTTTATTCACAAAAGACACCCTTGGGGCAGCAAAAAACTCCAGTGGTAATAAGGAACTTGGGCTTTAGTGGGGCAGACCTGATTAACCCTGTGTCTACAGACAACGAGAGAAGTGCAATGGGATAGGCGAGCACAAGTGCTGTGGGAGGATGAGGGGATGGGGATTGGAGATGTTCCTGGAGGAGATGACACCTGGCAGACAAAGTGAGGGAAAGAGCATTCCTGGCTGGGTCTAGGAATGGTGTGGAGTGTAGCACCTGTGAGGATGTGGAGGCCTGAAAAAGCATTGCCCGCTTAGG... | pathogenic | 73,919 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 129519139, gene IFT122 (intraflagellar transport 122). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cranioectodermal_dysplasia_1'] | GCCCCTGCACACAGACACACAGAGACCGCTCCTGCACACACACATGGAGACTGCCCCTGCACACACACGGAGACTGCCTCTGCACACACACAGAGACTGCCCCTACACACACACACAGACTGCCCCTGCACACACACACACACAGAAACTGCCCCTGCACACACACACATTGCTCCTGCACACACACACACACACACACACACACACACACAGAGACTGCTCCTGCACACACATACAGAGACTGCCCCTGCTGCCTCTTCTTGCTTTTGGTGAAGCTGCCAGTGGGTTGAGAAGCAACTCTGTGGTCACCCCACCTGCCT... | GCCCCTGCACACAGACACACAGAGACCGCTCCTGCACACACACATGGAGACTGCCCCTGCACACACACGGAGACTGCCTCTGCACACACACAGAGACTGCCCCTACACACACACACAGACTGCCCCTGCACACACACACACACAGAAACTGCCCCTGCACACACACACATTGCTCCTGCACACACACACACACACACACACACACACACACAGAGACTGCTCCTGCACACACATACAGAGACTGCCCCTGCTGCCTCTTCTTGCTTTTGGTGAAGCTGCCAGTGGGTTGAGAAGCAACTCTGTGGTCACCCCACCTGCCT... | pathogenic | 73,994 |
A mutation at chromosome position 129528905 on chromosome 3 in gene RHO (rhodopsin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy'] | CGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTC... | CGTGTGCCAAACGCTGTTAGACCCAACACCACCCAGGCCAGGTAGGGGGCTGGAGCCCAGGTGGGCTGCAGGGAAGGGGGCACTCTTCTGAGCAGACAGATCTGGGAATCCTGGGTGGGAAGAGAGACAGTGAGAGAGAGATTAAGGGATATTTCCCAGGCATCAGGGCTTTGCACTCTCAGGGGTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTC... | pathogenic | 74,019 |
The genetic variant at chromosome 3, position 129529089, affecting gene RHO (rhodopsin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTC... | GTCCTTCCGCCTGGATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTC... | pathogenic | 74,037 |
Variant chromosome 3, position 129529103, gene RHO (rhodopsin): benign or pathogenic? Disease(s)? | benign | ATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACA... | ATGTCCTTCCCCTGAAGCTTCCTCCTGTTGTTCCGTTCTCAGCTCAAGCTCCAGCTTCTCAGAGAAGCCTCCTGTGTTGGGAGTGGCTGCGACTGAACTGTCCCTACTGTTATTCGCTCTTCTATTTGTTTGTGGTCCCTGTGCCCCCTCACCCCACAAAAACACTGGCTTCTTGTGAGCAGGAGCTTGCTCTTTCGTGTACCCTGTGTGTCCCCAAGGACCAAGCACCTTGTCTGGGCCACAGTAGGTGCTCAATACACATGTTGGCTGGACAGTGGTCACTGAGCGGCCGCACGTCGGGCACTCTCAGCACTTGCACA... | benign | 74,039 |
Variant in gene RHO (rhodopsin), located at chromosome 3 position 129530918: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTC... | TGCTGATCGTGCTGGGCTTCCCCATCAACTTCCTCACGCTCTACGTCACCGTCCAGCACAAGAAGCTGCGCACGCCTCTCAACTACATCCTGCTCAACCTAGCCGTGGCTGACCTCTTCATGGTCCTAGGTGGCTTCACCAGCACCCTCTACACCTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGGCTTCTTTGCCACCCTGGGCGGTATGAGCCGGGTGTGGGTGGGGTGTGCAGGAGCCCGGGAGCATGGAGGGGTCTGGGAGAGTCCCGGGCTTGGCGGTGGTGGCTGAGAGGCCTTC... | pathogenic | 74,044 |
Chromosome 3, position 129532256, gene RHO (rhodopsin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_4'] | CCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACA... | CCTTTCACTGTTAGGAATGTCCCAGTTTGGTTGATTAACTATATGGCCACTCTCCCTATGGAACTTCATGGGGTGGTGAGCAGGACAGATGTCTGAATTCCATCATTTCCTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACA... | pathogenic | 74,060 |
Is chromosome 3, position 129532365, gene RHO (rhodopsin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa'] | CTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAG... | CTTCTTCTTCCTCTGGGCAAAACATTGCACATTGCTTCATGGCTCCTAGGAGAGGCCCCCACATGTCCGGGTTATTTCATTTCCCGAGAAGGGAGAGGGAGGAAGGACTGCCAATTCTGGGTTTCCACCACCTCTGCATTCCTTCCCAACAAGGAACTCTGCCCCACATTAGGATGCATTCTTCTGCTAAACACACACACACACACACACACACACAACACACACACACACACACACACACACACACACACAAAACTCCCTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAG... | pathogenic | 74,083 |
Variant on chromosome 3, at position 129532624, affecting RHO (rhodopsin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_4'] | CTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCC... | CTACCGGGTTCCCAGTTCAATCCTGACCCCCTGATCTGATTCGTGTCCCTTATGGGCCCAGAGCGCTAAGCAAATAACTTCCCCCATTCCCTGGAATTTCTTTGCCCAGCTCTCCTCAGCGTGTGGTCCCTCTGCCCCTTCCCCCTCCTCCCAGCACCAAGCTCTCTCCTTCCCCAAGGCCTCCTCAAATCCCTCTCCCACTCCTGGTTGCCTTCCTAGCTACCCTCTCCCTGTCTAGGGGGGAGTGCACCCTCCTTAGGCAGTGGGGTCTGTGCTGACCGCCTGCTGACTGCCTTGCAGGTGAAATTGCCCTGTGGTCC... | pathogenic | 74,089 |
Evaluate this variant at chromosome 3, position 130997731, gene ATP2C1 (ATPase secretory pathway Ca2+ transporting 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_benign_pemphigus'] | AAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCGCTGCACCATGGTGGCCAGGCTGGTCCGAACTCGTGACCCCAGGTGATCTGCCAGTTTCGGCCTCCCAGTGTGCTGGGATTACAGGCATGAGCCACAGTGCCCGGTTGGAAATTTATTTTCAAAATTAGCTCTACAGTGTTTTAGTATAGATACATTTTTGTATG... | AAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCGCTGCACCATGGTGGCCAGGCTGGTCCGAACTCGTGACCCCAGGTGATCTGCCAGTTTCGGCCTCCCAGTGTGCTGGGATTACAGGCATGAGCCACAGTGCCCGGTTGGAAATTTATTTTCAAAATTAGCTCTACAGTGTTTTAGTATAGATACATTTTTGTATG... | pathogenic | 74,207 |
A genetic variant on chromosome 3, position 132454160, affects the gene DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCCTGTCAGGCCTTAATAGGATAACTGTATCACAGTAATTCAACCAAGCCATAAAATGGAATAATAAGGTAAACGTTAAGGATGAAAATTGTTTCATACTCTTCTTATTGCCAACATTTTGTATTACTTGGGGGCAGCAAGAAGTTTTCATTTGAATTAATCCACTTTCTCACTGTAAGACACTAGCTAAAATGAATCAATTCACTATAAATATGGTACTATACCAGATTTATTCAACAAACCTTTATCTAATACCTTTTGCATCTATGGTGACTATAAAAAGCTGCTAGGAATAAAACCAGGTTCTTAAACACGATGTG... | GCCTGTCAGGCCTTAATAGGATAACTGTATCACAGTAATTCAACCAAGCCATAAAATGGAATAATAAGGTAAACGTTAAGGATGAAAATTGTTTCATACTCTTCTTATTGCCAACATTTTGTATTACTTGGGGGCAGCAAGAAGTTTTCATTTGAATTAATCCACTTTCTCACTGTAAGACACTAGCTAAAATGAATCAATTCACTATAAATATGGTACTATACCAGATTTATTCAACAAACCTTTATCTAATACCTTTTGCATCTATGGTGACTATAAAAAGCTGCTAGGAATAAAACCAGGTTCTTAAACACGATGTG... | benign | 74,237 |
Clinically, how would you classify the variant at chromosome 3, position 132460240, gene DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGTACAGAGGGAGAAACAATTGTTTAGTACAGTTTTGAAGTTTCTGATTATCTCAGTTTTGTGTGTAGTACCTGGGACTTTTCCTTATATAAAGTGTTTTAGGCAAGCTTAGTCGTACATAAACATAAGTAAATACTTCTGTAAAACCTTGCATTCCCAAAAGCAAATTAATTTTATTTACTGTTCCAAACAAGTAGTGAGATAACTAGAACTTAACAATGATATGGAGAGTTGCTTTATTCGAACAAAAGATGTTCCTATTACCCAGGAAATTCTAATGGTAGAGAGCTTTGTGTCAGGCTCCCCTATCAGGAAATTGC... | TGTACAGAGGGAGAAACAATTGTTTAGTACAGTTTTGAAGTTTCTGATTATCTCAGTTTTGTGTGTAGTACCTGGGACTTTTCCTTATATAAAGTGTTTTAGGCAAGCTTAGTCGTACATAAACATAAGTAAATACTTCTGTAAAACCTTGCATTCCCAAAAGCAAATTAATTTTATTTACTGTTCCAAACAAGTAGTGAGATAACTAGAACTTAACAATGATATGGAGAGTTGCTTTATTCGAACAAAAGATGTTCCTATTACCCAGGAAATTCTAATGGTAGAGAGCTTTGTGTCAGGCTCCCCTATCAGGAAATTGC... | benign | 74,243 |
Does the genetic variant at chromosome 3, position 132682076, impacting gene NPHP3, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | ATCTAGCTAAAATACAGATTCATTCAGTAGGTTTGGGGAGAGGCCTGAGAGTCTGAATTTTTAATAAGCTGCCAGGTGGTGGTGACAATGATTTGTGGACTACCCTGTGAATAGTAACTCGGCCTTAAGAGAACATTAACCAAAACCTTAAGCTGAGCAAACTACTGAGCAGCAAGTATTGACAACATTTCAAGGTTTTGTTTTTTGTTTTGTTTTGTTTTGAGATGGAGTCTCACTCGGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGTGATTCTCCTGCCTCAGCTTCCC... | ATCTAGCTAAAATACAGATTCATTCAGTAGGTTTGGGGAGAGGCCTGAGAGTCTGAATTTTTAATAAGCTGCCAGGTGGTGGTGACAATGATTTGTGGACTACCCTGTGAATAGTAACTCGGCCTTAAGAGAACATTAACCAAAACCTTAAGCTGAGCAAACTACTGAGCAGCAAGTATTGACAACATTTCAAGGTTTTGTTTTTTGTTTTGTTTTGTTTTGAGATGGAGTCTCACTCGGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGTGATTCTCCTGCCTCAGCTTCCC... | pathogenic | 74,306 |
Evaluate this variant at chromosome 3, position 132682700, gene NPHP3: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'NPHP3-related_disorder', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | TATTACATATTTCACTTTTACAATCAATACATGTTAGGATCTTACAAGTATTAAATTGATGATTTTATTATATATAAATACACAAATGGTCCAAAACAATATCTAAAATGTTGCAATATTTATAAAATCCATAAAAATATTTAATTTTCAGTATGAAAATGGCATACTAATTTGAGTTTGAGGTAAATGAAGAGACAGATTTAGGCCATCTAAGAAGGAAGATAAAGGAGAATGTCATATCTATATTTTGGGAAAAGTCAAAGAATGCTAAAGAGCTTGACCTGTTACTGCATTAATGACTTCAGACATTATGCAGATAC... | TATTACATATTTCACTTTTACAATCAATACATGTTAGGATCTTACAAGTATTAAATTGATGATTTTATTATATATAAATACACAAATGGTCCAAAACAATATCTAAAATGTTGCAATATTTATAAAATCCATAAAAATATTTAATTTTCAGTATGAAAATGGCATACTAATTTGAGTTTGAGGTAAATGAAGAGACAGATTTAGGCCATCTAAGAAGGAAGATAAAGGAGAATGTCATATCTATATTTTGGGAAAAGTCAAAGAATGCTAAAGAGCTTGACCTGTTACTGCATTAATGACTTCAGACATTATGCAGATAC... | pathogenic | 74,314 |
Determine whether the variant at chromosome 3, position 132682824, in gene NPHP3 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AAATCCATAAAAATATTTAATTTTCAGTATGAAAATGGCATACTAATTTGAGTTTGAGGTAAATGAAGAGACAGATTTAGGCCATCTAAGAAGGAAGATAAAGGAGAATGTCATATCTATATTTTGGGAAAAGTCAAAGAATGCTAAAGAGCTTGACCTGTTACTGCATTAATGACTTCAGACATTATGCAGATACATATACTATATAGTAATAAATAATACACAATGTAGACAGAACAGAAAGCAGAGGGACTGGACCAATCTGCTCAAGGAAAAGGTAAAGAATTTTTTAAAGTGCAGCAATCAGGGATTCTTGTGAC... | AAATCCATAAAAATATTTAATTTTCAGTATGAAAATGGCATACTAATTTGAGTTTGAGGTAAATGAAGAGACAGATTTAGGCCATCTAAGAAGGAAGATAAAGGAGAATGTCATATCTATATTTTGGGAAAAGTCAAAGAATGCTAAAGAGCTTGACCTGTTACTGCATTAATGACTTCAGACATTATGCAGATACATATACTATATAGTAATAAATAATACACAATGTAGACAGAACAGAAAGCAGAGGGACTGGACCAATCTGCTCAAGGAAAAGGTAAAGAATTTTTTAAAGTGCAGCAATCAGGGATTCTTGTGAC... | benign | 74,318 |
Located at chromosome 3 position 132683395, the variant affecting gene NPHP3—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | TCCACTTGCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCATGCGCCACCAGGTCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCTGCATCACCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAGATTCATGGAATTTTTGAACTCCTTGTCTTAACTACTCTGCCAGCTCTTGTTGAACAAAGACCAATCCGCTCTTCATGATTTGCTCCTCATGTCTTC... | TCCACTTGCTGAGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCATGCGCCACCAGGTCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCTGCATCACCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAGATTCATGGAATTTTTGAACTCCTTGTCTTAACTACTCTGCCAGCTCTTGTTGAACAAAGACCAATCCGCTCTTCATGATTTGCTCCTCATGTCTTC... | pathogenic | 74,320 |
For chromosome 3, position 132684720, gene NPHP3: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | GCTGTATAAGGAAAGTGAAAAAAATTCTTACCTAAGCACAGCTAAATTTTTCAGTGTTTCTCCAACTCGAGGATGCATCCGACCCAGGCTATCTTCATAAATCTTTAATGCTCTTTCATATAATGGCAAAGCTTCAACGTGTTTTTTCTTATTAAAAAAAATGATAATGCTCATGCACACTGGGTTTCTGAAATTAATGTATTCTAGACTAAGCTAACCTACTTTGATTAGTACTTTAAAATGTTAATATCCTCCTAAAAGATGGGAATAAACAGATTAACTTATGAATAATCATAGGAGAAGCAGTATAATAGAAAGTC... | GCTGTATAAGGAAAGTGAAAAAAATTCTTACCTAAGCACAGCTAAATTTTTCAGTGTTTCTCCAACTCGAGGATGCATCCGACCCAGGCTATCTTCATAAATCTTTAATGCTCTTTCATATAATGGCAAAGCTTCAACGTGTTTTTTCTTATTAAAAAAAATGATAATGCTCATGCACACTGGGTTTCTGAAATTAATGTATTCTAGACTAAGCTAACCTACTTTGATTAGTACTTTAAAATGTTAATATCCTCCTAAAAGATGGGAATAAACAGATTAACTTATGAATAATCATAGGAGAAGCAGTATAATAGAAAGTC... | pathogenic | 74,325 |
Is the genetic variant on chromosome 3, position 132687229, gene NPHP3, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTGCGTGTGTGTAACCTTGAACTCCTAGGCTCAAGTGATCCTCCCACCTTAGCCTCTCAAGTAGCTGGGTCTACAGGTGTGTACCACCATGTCTGGCTAATTTATTAATTTTTTTTGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAATTCCTGGCTTCAAGTGATCCTAATGCCTCAGCCTCCTAAAGCTCTGGGATTACAGGCATGAGCTATCATGCCCAGCCAGTACTAAATAATTTTTAACAAAAGAATAAATCATTATTTTTTATATAAGTTTCTGTAAGTGGGCTACAGATTTATTATACTTTT... | GTGCGTGTGTGTAACCTTGAACTCCTAGGCTCAAGTGATCCTCCCACCTTAGCCTCTCAAGTAGCTGGGTCTACAGGTGTGTACCACCATGTCTGGCTAATTTATTAATTTTTTTTGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAATTCCTGGCTTCAAGTGATCCTAATGCCTCAGCCTCCTAAAGCTCTGGGATTACAGGCATGAGCTATCATGCCCAGCCAGTACTAAATAATTTTTAACAAAAGAATAAATCATTATTTTTTATATAAGTTTCTGTAAGTGGGCTACAGATTTATTATACTTTT... | benign | 74,334 |
Chromosome 3, position 132688637, gene NPHP3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AACTATTTCATGAAAATGATTATATTTTAGAAAGTAAACTATATCTCAAAGTGCTTCAAGAAATAATAGAATATAATTAATTTGCAGATATTTATCAACCCCATAGGTAAACACATAAACATCAGGTCCATAAAAATGCACACAGCATTTTAAATTAAAGAAATATGCTACATTTAGATTTTATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCT... | AACTATTTCATGAAAATGATTATATTTTAGAAAGTAAACTATATCTCAAAGTGCTTCAAGAAATAATAGAATATAATTAATTTGCAGATATTTATCAACCCCATAGGTAAACACATAAACATCAGGTCCATAAAAATGCACACAGCATTTTAAATTAAAGAAATATGCTACATTTAGATTTTATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCT... | benign | 74,338 |
Does the variant impacting NPHP3 on chromosome 3, position 132688771, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | AATGCACACAGCATTTTAAATTAAAGAAATATGCTACATTTAGATTTTATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAA... | AATGCACACAGCATTTTAAATTAAAGAAATATGCTACATTTAGATTTTATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAA... | pathogenic | 74,340 |
Considering the genetic mutation at chromosome 3, position 132688818, impacting NPHP3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | TATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATG... | TATCAGCAACTTAAAAAAATTAAAATAACTTTTATTGTGTATTTGAGGGGAAGGCTTTCTTCACATTTGAACATAACACAAAATGTTAACTAAATTTATTTTATTCCTTTTTCCAACCCTTTAAAGAACTGAGGTAGCTTTAAATTCCGTCTTTCAAAATCTAACCTTCAAATGAATTTAGAGTTCCACTTTTTAAAGTCTAAATTGTACTTCTCAGTAATATGATATTTTAACACATAAATAAGAAAATGTTAAGTAGTTCTCTTCTAAAAAACTAGAAGATTTTAAAATCTAAAGCTCTTAAACATGTGGGGTGTATG... | pathogenic | 74,341 |
A genetic alteration at chromosome 3, position 132689263, in gene NPHP3—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'NPHP3-related_disorder', 'Nephronophthisis', 'Nephronophthisis_3', 'Polycystic_kidney_disease', 'Renal-hepatic-pancreatic_dysplasia_1'] | GCTTGTTCATATCTTAAAAAAAAATTACAGTAAGTCAAACAAAAGAAACATATTCAAAGTATACTTCAGTGAAATGAAAGCACTCTTTTCATAGTGTAAAGTCTTTTTGGGCTATTAAATACAGCATTTTTTCTAGAAATGATAGTCATGACATTAAGAATCTCTAAAAACCCTTTCATAAAACAAAATATGACAAAACACTAAGATATCTTAGTCTATCATGGATGTTTTTCTAATAAAAAGTTCTGTTCAATTAAAAAAATTTTGACAAAACAAAGCAAGTCTAGTCCTTTAAGTAGCTGACATCTGATCATCTTTAA... | GCTTGTTCATATCTTAAAAAAAAATTACAGTAAGTCAAACAAAAGAAACATATTCAAAGTATACTTCAGTGAAATGAAAGCACTCTTTTCATAGTGTAAAGTCTTTTTGGGCTATTAAATACAGCATTTTTTCTAGAAATGATAGTCATGACATTAAGAATCTCTAAAAACCCTTTCATAAAACAAAATATGACAAAACACTAAGATATCTTAGTCTATCATGGATGTTTTTCTAATAAAAAGTTCTGTTCAATTAAAAAAATTTTGACAAAACAAAGCAAGTCTAGTCCTTTAAGTAGCTGACATCTGATCATCTTTAA... | pathogenic | 74,350 |
Is the variant located on chromosome 3 at position 132699444, gene NPHP3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Joubert_syndrome_and_related_disorders'] | ATAATACAACAAGAACTGTAATTACCCATAACACAATTTAAAATCCACCACAGGAATTAACACTTTATACTGCTTTTGTAAAATAAGCAAAACTAATGTCTATTAATCATATTAAGTAATTAATATATCTTATTCTAATATGTGTATCATTACTTTGAGCAATGAATCACAACAAACAGTGTTATAAAATAAACAGTATATACATTAGATAGTTACATGGTAAAACATTTCTAGTTCTATGTTCCATACTATCAGTAAAACTAAGCATAGGTATGAGTATCTATGAGGAGTGGCATCAGACACAATTATTGTCCACAAGC... | ATAATACAACAAGAACTGTAATTACCCATAACACAATTTAAAATCCACCACAGGAATTAACACTTTATACTGCTTTTGTAAAATAAGCAAAACTAATGTCTATTAATCATATTAAGTAATTAATATATCTTATTCTAATATGTGTATCATTACTTTGAGCAATGAATCACAACAAACAGTGTTATAAAATAAACAGTATATACATTAGATAGTTACATGGTAAAACATTTCTAGTTCTATGTTCCATACTATCAGTAAAACTAAGCATAGGTATGAGTATCTATGAGGAGTGGCATCAGACACAATTATTGTCCACAAGC... | pathogenic | 74,378 |
Does the variant impacting NPHP3 on chromosome 3, position 132699900, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAGCTGATATACAATATGTGTGTGGTATTAAAATTTCTTGGGGGAGGCAATTACAAATAAAATGTCTAAAATGGCTCCTTATAGGAGCAAAAACAGGTTGAGAAACACTGCTCCATGGGATCCAATTGCTCTACTTTTTTTTTTTTTTGAGGCAGAGTCTCGTACTGTTGCCTAGGCTGGTGTGCAGTAGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTATATTTCTAGTAGAGGC... | AAGCTGATATACAATATGTGTGTGGTATTAAAATTTCTTGGGGGAGGCAATTACAAATAAAATGTCTAAAATGGCTCCTTATAGGAGCAAAAACAGGTTGAGAAACACTGCTCCATGGGATCCAATTGCTCTACTTTTTTTTTTTTTTGAGGCAGAGTCTCGTACTGTTGCCTAGGCTGGTGTGCAGTAGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTAGGATTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTATATTTCTAGTAGAGGC... | benign | 74,379 |
The chromosome 3, position 132700401 genetic variant in gene NPHP3: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | CTACAACCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTTAGCCTCCCGAGTAGATGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCCTGGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCTACCATGCCCGGCCACTCTACTACTTTTTAAAGAACCATTAAAGTGAGCTTGCATTTCAAAATAACAGGTGTCTATTATTCCCAGCCCGGCCCTTTCTCTATTTTCCTCA... | CTACAACCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTTAGCCTCCCGAGTAGATGGGATTACAAGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCCTGGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCTACCATGCCCGGCCACTCTACTACTTTTTAAAGAACCATTAAAGTGAGCTTGCATTTCAAAATAACAGGTGTCTATTATTCCCAGCCCGGCCCTTTCTCTATTTTCCTCA... | pathogenic | 74,385 |
Is the variant located on chromosome 3 at position 132705783, gene NPHP3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Joubert_syndrome_and_related_disorders', 'NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | ATGCCTGGTAAACTTTTGTATTTTTTGTAAAAACAAGGTTTTGCCATGTTGCTCAGGCTAGTTTCAAACTCCTGGGCTTAAAGCAATCTGCTTGTCTCAGCCTCCCAAAGTGTTGAGATTACATGCGTGAGCCACTGCACCTGGCCTCAGCCTTACTATCCTTATCAAGTTTCCTAGCTATCCTAATCCTGGTCTGAGTGAGTTGCAGATGGTAGCATAATAAACATGTGGTTGATAAATTCTAGTCCATAACTAAAAATGTTCGGTCTTTATAAGCACATTTGAATCTCACATATCTTTCTTATGACACAAACCTAAGC... | ATGCCTGGTAAACTTTTGTATTTTTTGTAAAAACAAGGTTTTGCCATGTTGCTCAGGCTAGTTTCAAACTCCTGGGCTTAAAGCAATCTGCTTGTCTCAGCCTCCCAAAGTGTTGAGATTACATGCGTGAGCCACTGCACCTGGCCTCAGCCTTACTATCCTTATCAAGTTTCCTAGCTATCCTAATCCTGGTCTGAGTGAGTTGCAGATGGTAGCATAATAAACATGTGGTTGATAAATTCTAGTCCATAACTAAAAATGTTCGGTCTTTATAAGCACATTTGAATCTCACATATCTTTCTTATGACACAAACCTAAGC... | pathogenic | 74,395 |
Regarding the variant at chromosome 3 and position 132713142, affecting gene NPHP3: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | ATGGAGCTTCCAAGCTGCTCAGGAGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTA... | ATGGAGCTTCCAAGCTGCTCAGGAGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTA... | pathogenic | 74,399 |
A genetic alteration at chromosome 3, position 132713153, in gene NPHP3—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Nephronophthisis', 'Nephronophthisis_3'] | AAGCTGCTCAGGAGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTACTAAAAGGGGA... | AAGCTGCTCAGGAGAGGCTTTTCTAGATTCATCTTTTGGGAAGGATGGGGTAGTCATCAGGGTAGGCGAAGGAAAAATCTGAAACAAAGGCTCCAACAGCCCTTGTTTGTGGTGTGGAGCCCATCCCCACTGCCATACCTCTTGACAGGCATGAAAGAAACAAATAATAAAATAATAAGCAACTGGAATAAGAAAAGTTTAAGTAAAATAAAGCCAAAGTAGAGACTAAAATTATTAAATTTAAGAAATTAAAATCCTCATTTCTTTAATAAGAATAAAATTTTTAAAAATGTACAATATAAAATTTTACTAAAAGGGGA... | pathogenic | 74,400 |
Is the chromosome 3, position 132719029 variant in NPHP3 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'NPHP3-related_disorder', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | AACAGGATTGCTGATTTTAAAAAATATGAAAATATTACAAATATTCAAATGATTTTGAAAATACTTTGCCATCGACTTTTGGCAAAGTTCAAAGATACTGATTAACATAATTCTGGTTATCATCTCAAATTCAAAGAGAGGATTAAAAAGAGAAAGATGAAAATAAACAAGAATACAATAAAAAAGAAATCATAATAAGAAGGAAGTTAAAAACATTTTACAAAAAAAAATTCTAAAAAACATTTCCAACTGTACAGCTTAGACACCAGTTAAAATCTGAAGGAAAAAACCTCAAAGGCAGACTGTTACTAACACACATA... | AACAGGATTGCTGATTTTAAAAAATATGAAAATATTACAAATATTCAAATGATTTTGAAAATACTTTGCCATCGACTTTTGGCAAAGTTCAAAGATACTGATTAACATAATTCTGGTTATCATCTCAAATTCAAAGAGAGGATTAAAAAGAGAAAGATGAAAATAAACAAGAATACAATAAAAAAGAAATCATAATAAGAAGGAAGTTAAAAACATTTTACAAAAAAAAATTCTAAAAAACATTTCCAACTGTACAGCTTAGACACCAGTTAAAATCTGAAGGAAAAAACCTCAAAGGCAGACTGTTACTAACACACATA... | pathogenic | 74,415 |
Evaluate this variant at chromosome 3, position 132719754, gene NPHP3: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'NPHP3-related_disorder', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | GGGGTATAAAAGAGCATTTTCTCAGCTACTCTTGGCCATTAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTA... | GGGGTATAAAAGAGCATTTTCTCAGCTACTCTTGGCCATTAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTA... | pathogenic | 74,417 |
Is the chromosome 3, position 132719786 variant in NPHP3 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['NPHP3-related_Meckel-like_syndrome', 'Nephronophthisis', 'Nephronophthisis_3', 'Renal-hepatic-pancreatic_dysplasia_1'] | TGGCCATTAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCA... | TGGCCATTAAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCA... | pathogenic | 74,420 |
Is the chromosome 3, position 132719817 variant in NPHP3 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['NPHP3-related_disorder', 'Nephronophthisis'] | TTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCATTTTTTTTCCTTAAAAGTTAGCAATAAAAAT... | TTTTTTTTTGAGATGAGTCTGGCTCTGTTGCCACACTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCATTTTTTTTCCTTAAAAGTTAGCAATAAAAAT... | pathogenic | 74,421 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 132719903, gene NPHP3. What disease(s) is it linked to if pathogenic? | benign | TCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCATTTTTTTTCCTTAAAAGTTAGCAATAAAAATTCCAGGATGTTGGTCAGATTCCAATGATACTACAATGAAAATTAAGAAGGAACTGTCAGTTACCATATTTTACTCCAAAATGCATC... | TCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTTTTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGCATAAGCCACCGTGCCCGGCCTTCATTTTTTTTCCTTAAAAGTTAGCAATAAAAATTCCAGGATGTTGGTCAGATTCCAATGATACTACAATGAAAATTAAGAAGGAACTGTCAGTTACCATATTTTACTCCAAAATGCATC... | benign | 74,423 |
The genetic variant at chromosome 3, position 132722082, affecting gene NPHP3: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['NPHP3-related_disorder', 'Nephronophthisis'] | CACAAATAAAGACCAACATTAAGCTTTCAATGGAAATTAACTTTTTTTGAAACACTGCATCAGCTCTTAAACTTCCTTATGCCTTTTCCATCTTTGTGATAGTAAAAATTACATTTTGTAAGGCTTAACTTGAAGGATAAGTAGTTCTAAGAGACTGTGTGCCTGTTGGCACTATGTCTTATTCATCTCACCATCCCTTGAGCACTTCACAGTGCCTGGTACACTGCAAGTCTCCAGTAAATGTCTGACACAATGAATGAAATAAATATGGATAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCA... | CACAAATAAAGACCAACATTAAGCTTTCAATGGAAATTAACTTTTTTTGAAACACTGCATCAGCTCTTAAACTTCCTTATGCCTTTTCCATCTTTGTGATAGTAAAAATTACATTTTGTAAGGCTTAACTTGAAGGATAAGTAGTTCTAAGAGACTGTGTGCCTGTTGGCACTATGTCTTATTCATCTCACCATCCCTTGAGCACTTCACAGTGCCTGGTACACTGCAAGTCTCCAGTAAATGTCTGACACAATGAATGAAATAAATATGGATAAGTTTTTTCATGCCTCGATATGTGAGAAAGGAACCAGTATGTTTCA... | pathogenic | 74,427 |
Variant in gene PCCB (propionyl-CoA carboxylase subunit beta), located at chromosome 3 position 136250523: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Propionic_acidemia'] | GCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTCCAGGAAATGCAATCAGTACTGATGTTTAGTTCTTGGCACATGGTAGGTGCTCAAAAATGTTTTCTGAGTTGAATTGCATTAACATTAAGGTCATAGGTCAGAATTTGTACTTTATGAAGGCCCTGGCTATGAGCTGGATCTGGGA... | GCCTCTCTAGGTTGTCCATCTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTCCAGGAAATGCAATCAGTACTGATGTTTAGTTCTTGGCACATGGTAGGTGCTCAAAAATGTTTTCTGAGTTGAATTGCATTAACATTAAGGTCATAGGTCAGAATTTGTACTTTATGAAGGCCCTGGCTATGAGCTGGATCTGGGA... | pathogenic | 74,564 |
Is chromosome 3, position 136250542, gene PCCB (propionyl-CoA carboxylase subunit beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Propionic_acidemia'] | CTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTCCAGGAAATGCAATCAGTACTGATGTTTAGTTCTTGGCACATGGTAGGTGCTCAAAAATGTTTTCTGAGTTGAATTGCATTAACATTAAGGTCATAGGTCAGAATTTGTACTTTATGAAGGCCCTGGCTATGAGCTGGATCTGGGAAGGGCTCATGATCAACTTT... | CTGCCTCTCTAGGTTGGTAAAGTCTTTAAAGCAAGGACCCAAATGCAAGGTCAAGAGTACCCATTACGGAGTTATACAGATACAGGTGGGCTTTGCCTAGCCAAGAGGCTTTGGCCTCTAAGCTGCCCTCTCTATCTAGATGAACTGTTACTACTCCAGGAAATGCAATCAGTACTGATGTTTAGTTCTTGGCACATGGTAGGTGCTCAAAAATGTTTTCTGAGTTGAATTGCATTAACATTAAGGTCATAGGTCAGAATTTGTACTTTATGAAGGCCCTGGCTATGAGCTGGATCTGGGAAGGGCTCATGATCAACTTT... | pathogenic | 74,565 |
Is the genetic variant on chromosome 3, position 136255853, gene PCCB (propionyl-CoA carboxylase subunit beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Propionic_acidemia'] | TTATTTTATTTTATTTTATTTTTTGGTAGAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGTCTCAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCTGCAGTGCCTGGTCAGTATAAATATATTTTAAAAATCTGTATATATGTTGCCAAGTTGGTTTCCTAAAAACTTATTCTACTTTACGTGACAGTGTATAGGATTGCCTGATTTTTGTTTGTTATTTTAAACACAACCTCACCAGCTTTGGCTACTTTCCTAAGGGGGAAATAATAGCCAATTTGAGGTATGT... | TTATTTTATTTTATTTTATTTTTTGGTAGAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGTCTCAACTCCTGGGCTCAAGCAGTCCTCCCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCTGCAGTGCCTGGTCAGTATAAATATATTTTAAAAATCTGTATATATGTTGCCAAGTTGGTTTCCTAAAAACTTATTCTACTTTACGTGACAGTGTATAGGATTGCCTGATTTTTGTTTGTTATTTTAAACACAACCTCACCAGCTTTGGCTACTTTCCTAAGGGGGAAATAATAGCCAATTTGAGGTATGT... | pathogenic | 74,573 |
Chromosome 3, position 136255988, gene PCCB (propionyl-CoA carboxylase subunit beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCCTGGTCAGTATAAATATATTTTAAAAATCTGTATATATGTTGCCAAGTTGGTTTCCTAAAAACTTATTCTACTTTACGTGACAGTGTATAGGATTGCCTGATTTTTGTTTGTTATTTTAAACACAACCTCACCAGCTTTGGCTACTTTCCTAAGGGGGAAATAATAGCCAATTTGAGGTATGTGGTTTTTTTTGTTGTTGTTGGGGAAGGGGACGGTAGGCTAGGGTATTTGCTTGGGGCTGAGAGCTTGGGAGCCCAAGCAATGGCGGCTTTTTTTTGTTTGTTTTTGTTTTTTGAGACAGTGTCTCACCCTGTCAC... | GCCTGGTCAGTATAAATATATTTTAAAAATCTGTATATATGTTGCCAAGTTGGTTTCCTAAAAACTTATTCTACTTTACGTGACAGTGTATAGGATTGCCTGATTTTTGTTTGTTATTTTAAACACAACCTCACCAGCTTTGGCTACTTTCCTAAGGGGGAAATAATAGCCAATTTGAGGTATGTGGTTTTTTTTGTTGTTGTTGGGGAAGGGGACGGTAGGCTAGGGTATTTGCTTGGGGCTGAGAGCTTGGGAGCCCAAGCAATGGCGGCTTTTTTTTGTTTGTTTTTGTTTTTTGAGACAGTGTCTCACCCTGTCAC... | benign | 74,576 |
A genetic variant at chromosome 3, position 136256621, affecting gene PCCB (propionyl-CoA carboxylase subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Propionic_acidemia'] | CTCAGGCTGGAGCACGGTGGAGTGATCACAGCTCACCACAACCTCCGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCACGTGCCACCACTCCCAGCTAATTTTTGTATTTTTCAGTAGAGACCAGGTTTTGCCATGTTGTCCAGCTGGTCTCAAACTCCTGGGCTCAAGCGATGCTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGCTCCTGGTAGATTGAGAGCTCTGACCTCATCTCCTCAAAGAAGCTTTTTTTTTTTTTT... | CTCAGGCTGGAGCACGGTGGAGTGATCACAGCTCACCACAACCTCCGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCACGTGCCACCACTCCCAGCTAATTTTTGTATTTTTCAGTAGAGACCAGGTTTTGCCATGTTGTCCAGCTGGTCTCAAACTCCTGGGCTCAAGCGATGCTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCGAGGCTCCTGGTAGATTGAGAGCTCTGACCTCATCTCCTCAAAGAAGCTTTTTTTTTTTTTT... | pathogenic | 74,581 |
Variant in PCCB (propionyl-CoA carboxylase subunit beta), chromosome 3, position 136260492—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Propionic_acidemia'] | CAATTGAGACAGGCCCTGAAGGATACTGAGGGTAGGGAGTGATGAGCTAGTGTTTTTTAATAGTGATCTCCAAGATGTTAATATCTTAGGTGCTTTTTCTGGGGAGCTTCTGTTCTTCTGGGGAGCCTCCTCAGTCCCTTGCCTGATAATTGGCTGTTGGTGTATTCTGAGGGGGAGAGAAAAAAAGGGGCCAGCACTCATTCAGTGTATAGGCTCCTAATCTTGCATGTTTTCAGCCTCACCTTTTCCTCTTTTAGGCTAGCGATTGTGAGTTTAGAACCCTTCTGGTTAATTTCCTTTAGAGAACAAACATTCTCTGT... | CAATTGAGACAGGCCCTGAAGGATACTGAGGGTAGGGAGTGATGAGCTAGTGTTTTTTAATAGTGATCTCCAAGATGTTAATATCTTAGGTGCTTTTTCTGGGGAGCTTCTGTTCTTCTGGGGAGCCTCCTCAGTCCCTTGCCTGATAATTGGCTGTTGGTGTATTCTGAGGGGGAGAGAAAAAAAGGGGCCAGCACTCATTCAGTGTATAGGCTCCTAATCTTGCATGTTTTCAGCCTCACCTTTTCCTCTTTTAGGCTAGCGATTGTGAGTTTAGAACCCTTCTGGTTAATTTCCTTTAGAGAACAAACATTCTCTGT... | pathogenic | 74,590 |
For chromosome 3, position 136261954, gene PCCB (propionyl-CoA carboxylase subunit beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Propionic_acidemia'] | CCACGCCCAGCTAATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCC... | CCACGCCCAGCTAATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCC... | pathogenic | 74,593 |
Considering the variant on chromosome 3, location 136261967, involving gene PCCB (propionyl-CoA carboxylase subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Propionic_acidemia'] | ATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCT... | ATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCT... | pathogenic | 74,595 |
Is chromosome 3, position 136262005, gene PCCB (propionyl-CoA carboxylase subunit beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Propionic_acidemia'] | GGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCTAACTTTTTTCTATATTTTTTGCAGATACGGGCTTCTGC... | GGCCAGGGTGGTCTGGAACTCTTGACCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCTAACTTTTTTCTATATTTTTTGCAGATACGGGCTTCTGC... | pathogenic | 74,597 |
Is the variant located on chromosome 3 at position 136262037, gene PCCB (propionyl-CoA carboxylase subunit beta), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Propionic_acidemia'] | TGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCTAACTTTTTTCTATATTTTTTGCAGATACGGGCTTCTGCCATGTCGCCCAGGCTGGTCTCAGACTCCTGGA... | TGATCCTCCTGCCTTGGCCTCTCAAAGTCTTGGGATTACAGGTGCGAGCCACCATGCCCGGGCAACTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTTGCTCTGTTGCATAGGCTGGAATACAGTGGTGCTGTCTCAACTCACTGAAGCCTCTGTCTCCAGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATGTGCCACCATGCGCAGCTAACTTTTTTCTATATTTTTTGCAGATACGGGCTTCTGCCATGTCGCCCAGGCTGGTCTCAGACTCCTGGA... | pathogenic | 74,603 |
Gene PCCB (propionyl-CoA carboxylase subunit beta) variant at chromosome 3, position 136283845—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Propionic_acidemia'] | GTCCATCTGTTTGAACTTTTGCAAGCTGTTTTTGCAAAGAGTATGTTCCTTTTTTAATATGGACATTGAAATTTTAGTTCTCTTATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCA... | GTCCATCTGTTTGAACTTTTGCAAGCTGTTTTTGCAAAGAGTATGTTCCTTTTTTAATATGGACATTGAAATTTTAGTTCTCTTATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCA... | pathogenic | 74,608 |
Is the genetic variant on chromosome 3, position 136283929, gene PCCB (propionyl-CoA carboxylase subunit beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Propionic_acidemia'] | ATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCTGCCATGGGTTGTTGGCTGGGGG... | ATCACTGTGTTTAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCTGCCATGGGTTGTTGGCTGGGGG... | pathogenic | 74,613 |
Mutation found at chromosome 3 position 136283940, gene PCCB (propionyl-CoA carboxylase subunit beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Propionic_acidemia'] | TAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCTGCCATGGGTTGTTGGCTGGGGGATTATAGCAGC... | TAACCAGCAATCTGACAGTAATTTCCTTAAATGTCTGTCTCCCAGAAGTGTGGAGGGGTGTGGAACAAACTACCTTTTTAAATCCCTTGTGGCTGGGAAGCTGCTTGAGCCAATCAGGGTTGAAACAATGCCAGCCTCTATGCTTAGCCCCTCAGCCATCAAAAGCAGTGGTCAGTAATCAGAACATACAACCTTGATTTTTCAAGGTTGAAAAACCAAGATGCAAAGGTTCTAATTTCCCAATCTGGCACCAACTAGCTACACTAGGAACATCCTCGTGGCTACCTGCCATGGGTTGTTGGCTGGGGGATTATAGCAGC... | pathogenic | 74,614 |
Mutation at chromosome 3, position 136298022, within PCCB (propionyl-CoA carboxylase subunit beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Propionic_acidemia'] | GAGGCTCTTTGATGGACTGTGTCTGATGCACTTGGCCCTGTATCCCCAGGGCAAGGCACAAAAAGGTGCTCCGTACATATATTTTTCTCTCTTTTCTTTTTTCTTTTGTGGTAACAGCTTTATTGAGATGTAATTCATATACCGTATATTTTAAACACCTATTTATAGTGTACAATTCAGTGGTTTTTAAAATACATTCAGAGTTGGATAATTATTACCACAATCAATTTCAGGACATTGTCATCACCCCAAGAAGAAACCCTGTGCCCATTAGCAGTCACTCTGCATTTCAACCACAGATACTTCTGCTCTAGGCAATT... | GAGGCTCTTTGATGGACTGTGTCTGATGCACTTGGCCCTGTATCCCCAGGGCAAGGCACAAAAAGGTGCTCCGTACATATATTTTTCTCTCTTTTCTTTTTTCTTTTGTGGTAACAGCTTTATTGAGATGTAATTCATATACCGTATATTTTAAACACCTATTTATAGTGTACAATTCAGTGGTTTTTAAAATACATTCAGAGTTGGATAATTATTACCACAATCAATTTCAGGACATTGTCATCACCCCAAGAAGAAACCCTGTGCCCATTAGCAGTCACTCTGCATTTCAACCACAGATACTTCTGCTCTAGGCAATT... | pathogenic | 74,625 |
Determine whether the variant at chromosome 3, position 136316958, in gene PCCB (propionyl-CoA carboxylase subunit beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['PCCB-related_disorder', 'Propionic_acidemia'] | TCATTAATGGACAAATCAACACATTGTGCCACTTGATGAGAATGCTCCTTCTGTGGTACTCCTGTGGAAAGGCTTAGCTCAAAATTAAACATGAAGAAATACCAAAGGAACCCAAATAGAAGTCATGCTTTACAAATTAACTGGTCTGTTGTCTTCAAAGATGTCATGATTATGAAAGACAAAGATGGAGGGGGAAAGTTAAAGGAGCCTAAAGAGATATAACCACTAAAAGCACCAGGTGATCCTGGCTCAGGTTCTGGACCAGAATTTTGTTGCTTGTGCTGCTATAAAGGATACTATTGGAACAATTGGCAAACTTG... | TCATTAATGGACAAATCAACACATTGTGCCACTTGATGAGAATGCTCCTTCTGTGGTACTCCTGTGGAAAGGCTTAGCTCAAAATTAAACATGAAGAAATACCAAAGGAACCCAAATAGAAGTCATGCTTTACAAATTAACTGGTCTGTTGTCTTCAAAGATGTCATGATTATGAAAGACAAAGATGGAGGGGGAAAGTTAAAGGAGCCTAAAGAGATATAACCACTAAAAGCACCAGGTGATCCTGGCTCAGGTTCTGGACCAGAATTTTGTTGCTTGTGCTGCTATAAAGGATACTATTGGAACAATTGGCAAACTTG... | pathogenic | 74,638 |
Determine whether the variant at chromosome 3, position 136326791, in gene PCCB (propionyl-CoA carboxylase subunit beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Propionic_acidemia'] | ATGTGTTCCTTGTGTCAGTCCTTCAGGCAGCCCACAGACAGGTTAGAGCAGACATATGCGGAAATTTGTGAATGAGGTCTGCTCTGCTTCCTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTG... | ATGTGTTCCTTGTGTCAGTCCTTCAGGCAGCCCACAGACAGGTTAGAGCAGACATATGCGGAAATTTGTGAATGAGGTCTGCTCTGCTTCCTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTG... | pathogenic | 74,642 |
The mutation impacting PCCB (propionyl-CoA carboxylase subunit beta) on chromosome 3 at position 136326881: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Propionic_acidemia'] | CTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAA... | CTCCAGAACCAGGGAGGAAATGGGACAAGTGTAATTAAAAAGGCACAGAGCTTTCATACCATTTTCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGTCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGAGGTAGATGGGATTACAGGTGTGCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAA... | pathogenic | 74,644 |
The mutation in gene PCCB (propionyl-CoA carboxylase subunit beta) at chromosome 3, position 136327174—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Inborn_genetic_diseases', 'PCCB-related_disorder', 'Propionic_acidemia'] | GTGATCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCT... | GTGATCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCT... | pathogenic | 74,649 |
Considering the variant on chromosome 3, location 136327178, involving gene PCCB (propionyl-CoA carboxylase subunit beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Propionic_acidemia'] | TCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTG... | TCCGCCCACCTTGGCCTCCCAAAATGATGGGATTACAGGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTG... | pathogenic | 74,650 |
Variant on chromosome 3, at position 136327215, affecting PCCB (propionyl-CoA carboxylase subunit beta): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Propionic_acidemia'] | GGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTA... | GGTGTGAGCCACCACATCTGGCCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTA... | pathogenic | 74,654 |
Evaluate this variant at chromosome 3, position 136327236, gene PCCB (propionyl-CoA carboxylase subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Propionic_acidemia'] | CCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTAGCTGGGAGTACAGGTGCCTGC... | CCATTTTTTTTTGTTCTTTTAGAGACAGAGTGTCACTATGTTGCCCAGGCAGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCACTTTGGCCTCCTGAGTAGCTGGGACTACATTGTCTTTTTATTGTTGATTTCTAGGGCCTGGCTTGTGACTTGCCTATTTATTTCCTTTCCTTTCCTTTTTTTTTTATTTGAGATGGAGTCTCACTCTGTTGCCTAGAGTGGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTTCCTCAAGCCTTCTGAGTAGCTGGGAGTACAGGTGCCTGC... | pathogenic | 74,655 |
A genetic variant at chromosome 3, position 136327712, affecting gene PCCB (propionyl-CoA carboxylase subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Propionic_acidemia'] | TATTCATGAATGGATATTAAATTTTTTCAGGTATTTTCTCTACATCTATTGAGATGTTCATATAGTTTTTTTCCTTTATTTAATAATTTCATTAGTTTTCACATGCTGAAATCAACCTTGAATTCTTGGGATAAACCCCACTTGGACATGATGTATTACTGTTTTTTTGAGATGGAGTGTTGCTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACACCCGGCTAATTT... | TATTCATGAATGGATATTAAATTTTTTCAGGTATTTTCTCTACATCTATTGAGATGTTCATATAGTTTTTTTCCTTTATTTAATAATTTCATTAGTTTTCACATGCTGAAATCAACCTTGAATTCTTGGGATAAACCCCACTTGGACATGATGTATTACTGTTTTTTTGAGATGGAGTGTTGCTCTGTCACCCGGGCTGGAGTGCAGTGGCATGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACACCCGGCTAATTT... | pathogenic | 74,666 |
Gene mutation in PCCB (propionyl-CoA carboxylase subunit beta) at chromosome 3, position 136328755—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Propionic_acidemia'] | AAACCAGCTTTGGATGGCTGCTGAGGACAAATCCCCATTGTGGATAGAACTGGGAATTGCCTGGATACTCAGTATGGATAATCTCTCTCTTTCTAGGATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTCTGTGATGCATTCAATATTCCACTCATCACTTTTGTTGATGTCCCTGGCTTTCTACCTGGTAAGTTTTTGACAGAGTGGGGGCTAGGAGAGTTGCCTTTCCCAGTAAGGTGCCCACTTTATTTGGAGATCTTCTTGCAGAACTCCCCGAGGACTTGTGACTTCTCCATGTATTCT... | AAACCAGCTTTGGATGGCTGCTGAGGACAAATCCCCATTGTGGATAGAACTGGGAATTGCCTGGATACTCAGTATGGATAATCTCTCTCTTTCTAGGATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTCTGTGATGCATTCAATATTCCACTCATCACTTTTGTTGATGTCCCTGGCTTTCTACCTGGTAAGTTTTTGACAGAGTGGGGGCTAGGAGAGTTGCCTTTCCCAGTAAGGTGCCCACTTTATTTGGAGATCTTCTTGCAGAACTCCCCGAGGACTTGTGACTTCTCCATGTATTCT... | pathogenic | 74,669 |
Determine whether the variant at chromosome 3, position 136328834, in gene PCCB (propionyl-CoA carboxylase subunit beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['PCCB-related_disorder', 'Propionic_acidemia'] | AATCTCTCTCTTTCTAGGATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTCTGTGATGCATTCAATATTCCACTCATCACTTTTGTTGATGTCCCTGGCTTTCTACCTGGTAAGTTTTTGACAGAGTGGGGGCTAGGAGAGTTGCCTTTCCCAGTAAGGTGCCCACTTTATTTGGAGATCTTCTTGCAGAACTCCCCGAGGACTTGTGACTTCTCCATGTATTCTGGGTGTCCAGAAGATAGGGCTGTGTAAGGAATGGCCCTCTCCAGAGGTGGGAAAGACCTCACAGCTGAGAGTGGCAGGA... | AATCTCTCTCTTTCTAGGATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTCTGTGATGCATTCAATATTCCACTCATCACTTTTGTTGATGTCCCTGGCTTTCTACCTGGTAAGTTTTTGACAGAGTGGGGGCTAGGAGAGTTGCCTTTCCCAGTAAGGTGCCCACTTTATTTGGAGATCTTCTTGCAGAACTCCCCGAGGACTTGTGACTTCTCCATGTATTCTGGGTGTCCAGAAGATAGGGCTGTGTAAGGAATGGCCCTCTCCAGAGGTGGGAAAGACCTCACAGCTGAGAGTGGCAGGA... | pathogenic | 74,671 |
Gene STAG1 (STAG1 cohesin complex component) variant at chromosome 3, position 136340479—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CGCCGATTTCTTGATGGAGGCTGGAAAGAGAAATCGGTTTCTTAATTTTTTTCTGAGATCATTAAGACAATGAATTGTGATAATCAGCTAATATTTCTGACAGTATCATAAATATATGGAACTGCTAAGAGTCAATTTTGAAAGGAAGAAGAGAATCTGGCTTTTATATGAAATAGATTTTTTAAAAACAAACAGTACTTTTGGCTTTTAATTATGTTGGCAAAAACAAGGCACAAAACTTTCAAACTATCATGAATAAACAACATGTTAATACATATAAATAACTTTGGGCCTACATGCCCAGGCCATATCTTCCCTTT... | CGCCGATTTCTTGATGGAGGCTGGAAAGAGAAATCGGTTTCTTAATTTTTTTCTGAGATCATTAAGACAATGAATTGTGATAATCAGCTAATATTTCTGACAGTATCATAAATATATGGAACTGCTAAGAGTCAATTTTGAAAGGAAGAAGAGAATCTGGCTTTTATATGAAATAGATTTTTTAAAAACAAACAGTACTTTTGGCTTTTAATTATGTTGGCAAAAACAAGGCACAAAACTTTCAAACTATCATGAATAAACAACATGTTAATACATATAAATAACTTTGGGCCTACATGCCCAGGCCATATCTTCCCTTT... | benign | 74,687 |
The mutation impacting MRAS (muscle RAS oncogene homolog) on chromosome 3 at position 138402164: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTCAGCCTTTTCTACCACGTCCACTCTGGAGGGGCCCAGAAAGAGGGACAGAAGTCATCCCAAGGTGGAGCAACAGACCTCAGAAAGAAAAATGGATAGAATCAGAATGTATTTTTGATAAATGAAACAGTCTTTCATCTTCAAGTATATAAAAAGATCACTTTATTCTATTTTTAGGGAGCTATTAAATATCTCTGTGCCTAGAGAACAAGAGGGAATTGGAAAAGCCATTAGTAACACTTTCCAACCTGAAAGAGTGAAAAGCCCTAAATGATGCTTGAGGCTATTGGGGGCTGGGGCTTCTGTGGGGGGTTTTGAAA... | CTCAGCCTTTTCTACCACGTCCACTCTGGAGGGGCCCAGAAAGAGGGACAGAAGTCATCCCAAGGTGGAGCAACAGACCTCAGAAAGAAAAATGGATAGAATCAGAATGTATTTTTGATAAATGAAACAGTCTTTCATCTTCAAGTATATAAAAAGATCACTTTATTCTATTTTTAGGGAGCTATTAAATATCTCTGTGCCTAGAGAACAAGAGGGAATTGGAAAAGCCATTAGTAACACTTTCCAACCTGAAAGAGTGAAAAGCCCTAAATGATGCTTGAGGCTATTGGGGGCTGGGGCTTCTGTGGGGGGTTTTGAAA... | benign | 74,790 |
Classify the chromosome 3 variant at position 138945851 affecting gene FOXL2 (forkhead box L2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_I', 'Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome'] | TTTATCTATTAATGTTTGGAACAAACTCTTGGCTGTTATAGTTGACTCAAAATCGAAAAGTTTGAGAACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAA... | TTTATCTATTAATGTTTGGAACAAACTCTTGGCTGTTATAGTTGACTCAAAATCGAAAAGTTTGAGAACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAA... | pathogenic | 74,806 |
Variant chromosome 3, position 138945863, gene FOXL2 (forkhead box L2): benign or pathogenic? Disease(s)? | pathogenic; ['Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome', 'FOXL2-related_disorder', 'Premature_ovarian_failure_3'] | TGTTTGGAACAAACTCTTGGCTGTTATAGTTGACTCAAAATCGAAAAGTTTGAGAACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAAC... | TGTTTGGAACAAACTCTTGGCTGTTATAGTTGACTCAAAATCGAAAAGTTTGAGAACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAAC... | pathogenic | 74,807 |
Variant at chromosome position 138945918, chromosome 3, gene FOXL2 (forkhead box L2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_I', 'BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_II', 'Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome', 'Inborn_genetic_diseases', 'Premature_ovarian_failure_3'] | ACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCT... | ACAATAATAAAAACACAGCCAGCCCATACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCT... | pathogenic | 74,808 |
The mutation in gene FOXL2 (forkhead box L2) at chromosome 3, position 138945944—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome'] | TACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGA... | TACACCTAGTACAACTGTGTATGAGGTAGAATACAAACTTGAATAGGTACAAAAATAAACCAAGTCCTACCTACAGTCGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGA... | pathogenic | 74,809 |
Clinical classification of chromosome 3, position 138946021, gene FOXL2 (forkhead box L2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS,_TYPE_II', 'Blepharophimosis,_ptosis,_and_epicanthus_inversus,_type_II_with_Duane_retraction_syndrome', 'Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome'] | CGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACA... | CGCGCCTTGTGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACA... | pathogenic | 74,810 |
Determine whether the variant at chromosome 3, position 138946030, in gene FOXL2 (forkhead box L2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome'] | TGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAG... | TGAACGAACCACGGCAGAAAAAGTCTTTCTGCTGACGTTAAACAGCCGCAACGGGCCAGTGATGACACAGAAAACAAACAATCCCAGGAAAACAAAGCAGCAGCGACAGCCACAAACGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAG... | pathogenic | 74,811 |
Assess the variant on chromosome 3, position 138946146, impacting FOXL2 (forkhead box L2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome', 'Inborn_genetic_diseases'] | CGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAGTGCTCTAGTTCTCTCTAGAAAATTTGGTCCCCCAAACAACAAGCTACAGTACAACCAGGTCTATGGTTTTCGGGCCGGGCCGGCTCCGGGCCACAAGACCGCCTAGGTCGGCCGCT... | CGCCTGCCACCCCGGTTGCTCTCAATCTTTGTTTAACTCATTCTGAAAAAGATAAAATTTTGCTGAAAATCTTCCTCTTTTAACTAGCTGCTGAACTAAGGAGCGACAGAAATAAAGAAGTCCGTGTTAAAAGAAGGAACACAAAATTTATTCGGGAATCGACAAGGCAAAAAACAAAAACAAAACAAAAAAACACAACAAAAGTGCTCTAGTTCTCTCTAGAAAATTTGGTCCCCCAAACAACAAGCTACAGTACAACCAGGTCTATGGTTTTCGGGCCGGGCCGGCTCCGGGCCACAAGACCGCCTAGGTCGGCCGCT... | pathogenic | 74,817 |
Mutation found at chromosome 3 position 139346862, gene MRPS22 (mitochondrial ribosomal protein S22): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCCATTTACACCAAGATGAAGAAGATTAATTAATTGTTGGAACCGTTATTTTGGGGGCGGGGGTAGTGCAGGAGTAGATGAGATCAGGAGATGGGAAAGGAGGCGGAATTAAACCTATTTGGGACACATTAAATTTGAGGTGACTTTAAGAGTCAACTGTTTAGTATGGAGTTAAATATAAAGTGAGGAACATCGGAGTAAAAATGGTAACTAAAGGTGAGTGAATGGGTGAGACTGAGGAGAGAGTAGTGCTGAGCACTTGCTGTGTGCTGGATACCCTGAGGAACCCTGGGTGCCAGAGATGAGTATAAGACAAGGTC... | CCCATTTACACCAAGATGAAGAAGATTAATTAATTGTTGGAACCGTTATTTTGGGGGCGGGGGTAGTGCAGGAGTAGATGAGATCAGGAGATGGGAAAGGAGGCGGAATTAAACCTATTTGGGACACATTAAATTTGAGGTGACTTTAAGAGTCAACTGTTTAGTATGGAGTTAAATATAAAGTGAGGAACATCGGAGTAAAAATGGTAACTAAAGGTGAGTGAATGGGTGAGACTGAGGAGAGAGTAGTGCTGAGCACTTGCTGTGTGCTGGATACCCTGAGGAACCCTGGGTGCCAGAGATGAGTATAAGACAAGGTC... | benign | 74,827 |
Evaluate if the mutation on chromosome 3 at position 139374578 in COPB2 (COPI coat complex subunit beta 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_19,_primary,_autosomal_recessive', 'Osteoporosis,_childhood-_or_juvenile-onset,_with_developmental_delay'] | AAGACAATTATATTACAAATAATTATGGATACCATTTACTGAACTAGGCGGCATACTTGGTTTATATCTTTTGTCTTTTTCAATACTCAGCACAGCATTATAAGATGCCCAGACCTGCTGTAAAATAATTTTAAAGCTCCACAGGTTTAGACTTCACTGTGCTAGAAACTCCTCTCTCACAAGATGTTTGGTGACTTACAAATCTTAAGGGAGAAATTCAACTGACAGTTCGAATTACAAATAAGAAACAGAATTATTATCAATCCCAAAACTTTTTCAAAAGACACATATCTCAGAGTCAGGTTTTCTTCTTGAAAGAG... | AAGACAATTATATTACAAATAATTATGGATACCATTTACTGAACTAGGCGGCATACTTGGTTTATATCTTTTGTCTTTTTCAATACTCAGCACAGCATTATAAGATGCCCAGACCTGCTGTAAAATAATTTTAAAGCTCCACAGGTTTAGACTTCACTGTGCTAGAAACTCCTCTCTCACAAGATGTTTGGTGACTTACAAATCTTAAGGGAGAAATTCAACTGACAGTTCGAATTACAAATAAGAAACAGAATTATTATCAATCCCAAAACTTTTTCAAAAGACACATATCTCAGAGTCAGGTTTTCTTCTTGAAAGAG... | pathogenic | 74,857 |
Is the chromosome 3, position 141540616 variant in RASA2 (RAS p21 protein activator 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TATTTCCTTGTTAAAGTATATAATGAGTTAGTGTTTTACAGTTTAGAAATTATAATTTCCTTAATTTAACTCATAATGCCTTTTAATTTAGTGTTCCACCCTAACAGTATGTGTTTTGTGTCTGCCTGTTCTGTCCTCACACTTTTCTTGACCTGGTTAATATATAATTGTGTTATTGTTGATTAATACCTAAGGAATGTTTTATTTACCAGTCAGTGGGAGTAATGAACATATTAGGTAGGCTCTGACTCAATAATAATGATTTCTGGCAGAATCTCATTAAATATCCTTTTGACTTGCTATAATACTATGATTTTAGT... | TATTTCCTTGTTAAAGTATATAATGAGTTAGTGTTTTACAGTTTAGAAATTATAATTTCCTTAATTTAACTCATAATGCCTTTTAATTTAGTGTTCCACCCTAACAGTATGTGTTTTGTGTCTGCCTGTTCTGTCCTCACACTTTTCTTGACCTGGTTAATATATAATTGTGTTATTGTTGATTAATACCTAAGGAATGTTTTATTTACCAGTCAGTGGGAGTAATGAACATATTAGGTAGGCTCTGACTCAATAATAATGATTTCTGGCAGAATCTCATTAAATATCCTTTTGACTTGCTATAATACTATGATTTTAGT... | benign | 74,894 |
Gene RASA2 (RAS p21 protein activator 2) variant at chromosome position 141540616 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATTTCCTTGTTAAAGTATATAATGAGTTAGTGTTTTACAGTTTAGAAATTATAATTTCCTTAATTTAACTCATAATGCCTTTTAATTTAGTGTTCCACCCTAACAGTATGTGTTTTGTGTCTGCCTGTTCTGTCCTCACACTTTTCTTGACCTGGTTAATATATAATTGTGTTATTGTTGATTAATACCTAAGGAATGTTTTATTTACCAGTCAGTGGGAGTAATGAACATATTAGGTAGGCTCTGACTCAATAATAATGATTTCTGGCAGAATCTCATTAAATATCCTTTTGACTTGCTATAATACTATGATTTTAGT... | TATTTCCTTGTTAAAGTATATAATGAGTTAGTGTTTTACAGTTTAGAAATTATAATTTCCTTAATTTAACTCATAATGCCTTTTAATTTAGTGTTCCACCCTAACAGTATGTGTTTTGTGTCTGCCTGTTCTGTCCTCACACTTTTCTTGACCTGGTTAATATATAATTGTGTTATTGTTGATTAATACCTAAGGAATGTTTTATTTACCAGTCAGTGGGAGTAATGAACATATTAGGTAGGCTCTGACTCAATAATAATGATTTCTGGCAGAATCTCATTAAATATCCTTTTGACTTGCTATAATACTATGATTTTAGT... | benign | 74,895 |
Classify the chromosome 3 variant at position 141555923 affecting gene RASA2 (RAS p21 protein activator 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GTTGCCTCTCATAAATGGCCAAAGCTGTGACCCTTATGCAACAGTTTCTCTAGTGGGCCCTTCTAGGTAATATTTATTGAATTATTATTAGGTTTTAAAGTTTTGATGTTTGATTTAAAAATTTAAAAAGTAAGATTCTACGAGCAAATGATAAATAGCTATTTATAACACACAGTAATAAATGCTTTGAAAGAAAAATCTTTAGTGAGTTCTATTATACACTTGTCAATAACAAAGCCCTCTTTTTACAGACAGAAATTGGTACCCCATTTTAAATCTGCCATGCTCTTAGGCTTTAAGGAACAACTTCAGTTTTATAC... | GTTGCCTCTCATAAATGGCCAAAGCTGTGACCCTTATGCAACAGTTTCTCTAGTGGGCCCTTCTAGGTAATATTTATTGAATTATTATTAGGTTTTAAAGTTTTGATGTTTGATTTAAAAATTTAAAAAGTAAGATTCTACGAGCAAATGATAAATAGCTATTTATAACACACAGTAATAAATGCTTTGAAAGAAAAATCTTTAGTGAGTTCTATTATACACTTGTCAATAACAAAGCCCTCTTTTTACAGACAGAAATTGGTACCCCATTTTAAATCTGCCATGCTCTTAGGCTTTAAGGAACAACTTCAGTTTTATAC... | benign | 74,906 |
Mutation found at chromosome 3 position 142496525, gene ATR (ATR checkpoint kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GAGTCCCTTAAACCTACCTGAAGAATATAGGAAAATGGAGGAGAACTACAGTCAGGAAAAGTTATCAACGAAGAAAATTTGAATTAGGTTTTCAAGAATGAGTAGAAATCTTCTTGGCAGAGAATTTAGTGAAAGGCATTCTAGGTAGATGGAATAATAATTTTAATTGGAAGAAAAGCACATAGTCTGATTTTAGCTGAAGTTTAAAGGGTTTTTGAGATGGTGATGAATGACACTGAGGAAGTAGGCCAGGACTTGATCAGAAAGGGATTTGTGTAGTTCCTAGAGTTAGGCTTAATCCTAAAGGTATGAAGAATACT... | GAGTCCCTTAAACCTACCTGAAGAATATAGGAAAATGGAGGAGAACTACAGTCAGGAAAAGTTATCAACGAAGAAAATTTGAATTAGGTTTTCAAGAATGAGTAGAAATCTTCTTGGCAGAGAATTTAGTGAAAGGCATTCTAGGTAGATGGAATAATAATTTTAATTGGAAGAAAAGCACATAGTCTGATTTTAGCTGAAGTTTAAAGGGTTTTTGAGATGGTGATGAATGACACTGAGGAAGTAGGCCAGGACTTGATCAGAAAGGGATTTGTGTAGTTCCTAGAGTTAGGCTTAATCCTAAAGGTATGAAGAATACT... | benign | 75,100 |
Located at chromosome 3 position 142496528, the variant affecting gene ATR (ATR checkpoint kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TCCCTTAAACCTACCTGAAGAATATAGGAAAATGGAGGAGAACTACAGTCAGGAAAAGTTATCAACGAAGAAAATTTGAATTAGGTTTTCAAGAATGAGTAGAAATCTTCTTGGCAGAGAATTTAGTGAAAGGCATTCTAGGTAGATGGAATAATAATTTTAATTGGAAGAAAAGCACATAGTCTGATTTTAGCTGAAGTTTAAAGGGTTTTTGAGATGGTGATGAATGACACTGAGGAAGTAGGCCAGGACTTGATCAGAAAGGGATTTGTGTAGTTCCTAGAGTTAGGCTTAATCCTAAAGGTATGAAGAATACTTTG... | TCCCTTAAACCTACCTGAAGAATATAGGAAAATGGAGGAGAACTACAGTCAGGAAAAGTTATCAACGAAGAAAATTTGAATTAGGTTTTCAAGAATGAGTAGAAATCTTCTTGGCAGAGAATTTAGTGAAAGGCATTCTAGGTAGATGGAATAATAATTTTAATTGGAAGAAAAGCACATAGTCTGATTTTAGCTGAAGTTTAAAGGGTTTTTGAGATGGTGATGAATGACACTGAGGAAGTAGGCCAGGACTTGATCAGAAAGGGATTTGTGTAGTTCCTAGAGTTAGGCTTAATCCTAAAGGTATGAAGAATACTTTG... | benign | 75,101 |
Does the variant on chromosome 3 at location 142515530 affecting gene ATR (ATR checkpoint kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GTAAGATGATTTATCTCACCTCCTGCTGATCTTCTTGATTACAACCCAGTAAGACATACACCAGAATATGTGGAAGAAGATAGATGGTCACTTTGAAATCATGCTTCATCATAATGCTACAGCAGGTGAAAATTTTACTGGCAAGATCATGTCGAACCTGTAAATGCAAAATGTGTAGACAGTAACACACTTTCACATATTGATTAAATGTCAAAGAGTAGCATGTGAGATAATTTATCACAAACGAGTATTCATTTTTAAATTTAAAAAGTTTTTTAATTAATTTTTTAATTAAATTATTTGGGGTTAAAGTCAAATTT... | GTAAGATGATTTATCTCACCTCCTGCTGATCTTCTTGATTACAACCCAGTAAGACATACACCAGAATATGTGGAAGAAGATAGATGGTCACTTTGAAATCATGCTTCATCATAATGCTACAGCAGGTGAAAATTTTACTGGCAAGATCATGTCGAACCTGTAAATGCAAAATGTGTAGACAGTAACACACTTTCACATATTGATTAAATGTCAAAGAGTAGCATGTGAGATAATTTATCACAAACGAGTATTCATTTTTAAATTTAAAAAGTTTTTTAATTAATTTTTTAATTAAATTATTTGGGGTTAAAGTCAAATTT... | benign | 75,170 |
A genetic variant at chromosome 3, position 142522850, affecting gene ATR (ATR checkpoint kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGTGTAAGGTGAAGAAGCAACTATTGATAGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAAATCATTCTATTCTGTTGGAAGAAGATGCTATCCAGGACTTTCACAGCTAGAGAGGAGAAGTCAATGCCTGGCTTCAAAGCTTCAAAGGACAGGTTAATAACTCTCTTGTTAAGGGCTAATGCAATTGGTGACTTTAAATTGAAGCCAATGCTCATTGACGATTCCATACATCCTAGGGCTGTTAGGAATTAGGCTAAATCTAAATATATGCGTCTACTATATACCCATAAAAATTGAAAATTAGAACAATAAA... | AGTGTAAGGTGAAGAAGCAACTATTGATAGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAAATCATTCTATTCTGTTGGAAGAAGATGCTATCCAGGACTTTCACAGCTAGAGAGGAGAAGTCAATGCCTGGCTTCAAAGCTTCAAAGGACAGGTTAATAACTCTCTTGTTAAGGGCTAATGCAATTGGTGACTTTAAATTGAAGCCAATGCTCATTGACGATTCCATACATCCTAGGGCTGTTAGGAATTAGGCTAAATCTAAATATATGCGTCTACTATATACCCATAAAAATTGAAAATTAGAACAATAAA... | benign | 75,187 |
Evaluate this variant at chromosome 3, position 142550276, gene ATR (ATR checkpoint kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | TGTAGTATAGTGGCTTATAGCAGTCTTTCTGTTCAGATTGCTTTAGTTTAAATTCTAGCTGTCATTTATCAGATATGCTGACTTGGACAAGTTACCTAATCTAACCTCACTCTGCCTTAGTTCCTTATCTATGAAACAAAACAAAAAAATAGTACCTTTGGCTGGGCGTGTTGGTTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGCAGCCAGGAGTTGGACACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCAGACACCTGT... | TGTAGTATAGTGGCTTATAGCAGTCTTTCTGTTCAGATTGCTTTAGTTTAAATTCTAGCTGTCATTTATCAGATATGCTGACTTGGACAAGTTACCTAATCTAACCTCACTCTGCCTTAGTTCCTTATCTATGAAACAAAACAAAAAAATAGTACCTTTGGCTGGGCGTGTTGGTTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGCAGCCAGGAGTTGGACACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCAGACACCTGT... | pathogenic | 75,266 |
Does the variant on chromosome 3 at location 142555897 affecting gene ATR (ATR checkpoint kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome', 'Seckel_syndrome_1'] | GTCCAAGGATTCCAATATGTGCTTGATATTTCCACTAAAAGCCACTCTAACATCTTTGTCTGGATCTTCCATTAAATTTAATAAAGTTCCAAGAACTGCTTTTACATCTGTTTCATCTTCTCTAAAATCAAGATGCTTACAAAGATGATGTAGATTATCTATGAAAGCTGAAGGACAAGAGTATACAATACCTAATTTAACATATTAAATGTCAAGGTTGTACTGTAAAAATATTGTCAACAAATAATATGCCATGAAGAATCCTAAGTTCTCTTATAATGTCAATGTTTCATATTTAAGTATGTATAGCACACAGAATT... | GTCCAAGGATTCCAATATGTGCTTGATATTTCCACTAAAAGCCACTCTAACATCTTTGTCTGGATCTTCCATTAAATTTAATAAAGTTCCAAGAACTGCTTTTACATCTGTTTCATCTTCTCTAAAATCAAGATGCTTACAAAGATGATGTAGATTATCTATGAAAGCTGAAGGACAAGAGTATACAATACCTAATTTAACATATTAAATGTCAAGGTTGTACTGTAAAAATATTGTCAACAAATAATATGCCATGAAGAATCCTAAGTTCTCTTATAATGTCAATGTTTCATATTTAAGTATGTATAGCACACAGAATT... | pathogenic | 75,287 |
Variant at chromosome position 142555897, chromosome 3, gene ATR (ATR checkpoint kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome', 'Seckel_syndrome_1'] | GTCCAAGGATTCCAATATGTGCTTGATATTTCCACTAAAAGCCACTCTAACATCTTTGTCTGGATCTTCCATTAAATTTAATAAAGTTCCAAGAACTGCTTTTACATCTGTTTCATCTTCTCTAAAATCAAGATGCTTACAAAGATGATGTAGATTATCTATGAAAGCTGAAGGACAAGAGTATACAATACCTAATTTAACATATTAAATGTCAAGGTTGTACTGTAAAAATATTGTCAACAAATAATATGCCATGAAGAATCCTAAGTTCTCTTATAATGTCAATGTTTCATATTTAAGTATGTATAGCACACAGAATT... | GTCCAAGGATTCCAATATGTGCTTGATATTTCCACTAAAAGCCACTCTAACATCTTTGTCTGGATCTTCCATTAAATTTAATAAAGTTCCAAGAACTGCTTTTACATCTGTTTCATCTTCTCTAAAATCAAGATGCTTACAAAGATGATGTAGATTATCTATGAAAGCTGAAGGACAAGAGTATACAATACCTAATTTAACATATTAAATGTCAAGGTTGTACTGTAAAAATATTGTCAACAAATAATATGCCATGAAGAATCCTAAGTTCTCTTATAATGTCAATGTTTCATATTTAAGTATGTATAGCACACAGAATT... | pathogenic | 75,288 |
The genetic variant at chromosome 3, position 142558523, affecting gene ATR (ATR checkpoint kinase): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCTCTGCAGGGCCCAGTTGTAAACTGCTGTTCTCCACTCAAGGAATATTCTTCTTGGAAACAGAGTCAGAAGAAACACACATCGTGATTGTGCCTGTGGTGCTGAAAAAATTAAGTCTATTAAACAAGATTTCTACTAATGTTAATTTTATGTATACACATATACATATATATAAGTAAAGTAACATTTGTGTATACATATATATAAATAAAAGTCAAGTAACACTTAAAATACATTTAATACCTAATTTAATTAAAAGCTCCTTTTCAGAAAATAAAGCAAGTGCACTGAAAAAGGTCTATACACAACCTTACTAAATA... | GCTCTGCAGGGCCCAGTTGTAAACTGCTGTTCTCCACTCAAGGAATATTCTTCTTGGAAACAGAGTCAGAAGAAACACACATCGTGATTGTGCCTGTGGTGCTGAAAAAATTAAGTCTATTAAACAAGATTTCTACTAATGTTAATTTTATGTATACACATATACATATATATAAGTAAAGTAACATTTGTGTATACATATATATAAATAAAAGTCAAGTAACACTTAAAATACATTTAATACCTAATTTAATTAAAAGCTCCTTTTCAGAAAATAAAGCAAGTGCACTGAAAAAGGTCTATACACAACCTTACTAAATA... | benign | 75,306 |
Is chromosome 3, position 146077865, gene PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bruck_syndrome_2', 'Osteogenesis_imperfecta'] | CCTTCCCCAAAGCTAATAAGTGTCTTAATAAAAACAAGTTATTGGTCAAGTTTAGATCTACTCTATAGATCATGAAATACAATTAATTATGTCGTTTTAATTTTTTTCTTTTTATTTACTTTTTAAAAACAATTTCAGCTTTTGGATTCAGGGAGTATATGTGCAGGTTTGTTACAAGTGTATAATGCATGATGCTAAGGTTTAGGGTATGACTGATCCCATCACCAAGGTAGTGAGCACAGTACCCATTAGTTGGTTTTTCAACCCTTGTCCCCCTCCCTACTCCCTCACTCCTCTAGTGATCCCCAGGGTCTACTGTT... | CCTTCCCCAAAGCTAATAAGTGTCTTAATAAAAACAAGTTATTGGTCAAGTTTAGATCTACTCTATAGATCATGAAATACAATTAATTATGTCGTTTTAATTTTTTTCTTTTTATTTACTTTTTAAAAACAATTTCAGCTTTTGGATTCAGGGAGTATATGTGCAGGTTTGTTACAAGTGTATAATGCATGATGCTAAGGTTTAGGGTATGACTGATCCCATCACCAAGGTAGTGAGCACAGTACCCATTAGTTGGTTTTTCAACCCTTGTCCCCCTCCCTACTCCCTCACTCCTCTAGTGATCCCCAGGGTCTACTGTT... | pathogenic | 75,452 |
Benign or pathogenic: chromosome 3, position 146110469, gene PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) variant? Disease(s) if pathogenic? | benign | CACCTTCCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGACACCGTGCCTGGCCAAAAACTATTTTTAAAAACTAAATAGTATGCCCACAAACAACTCATGTCCCTTAAATAACTGTAAATATGTGATCTATGAAATTATTCAAACTTTTATTAAACATATTTATATTTTCTGCCCTTCTCTAATTATTTTGACTACAGAAAGCATAAGGATGATGCTTCGATGTCCTTTTATGATTACTTTCCCACTTAAAACACCTTTTCCTTAATTAAACTGACTTACAACTGCACTTGCTTGCTAATTTCTTGCTGCT... | CACCTTCCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGACACCGTGCCTGGCCAAAAACTATTTTTAAAAACTAAATAGTATGCCCACAAACAACTCATGTCCCTTAAATAACTGTAAATATGTGATCTATGAAATTATTCAAACTTTTATTAAACATATTTATATTTTCTGCCCTTCTCTAATTATTTTGACTACAGAAAGCATAAGGATGATGCTTCGATGTCCTTTTATGATTACTTTCCCACTTAAAACACCTTTTCCTTAATTAAACTGACTTACAACTGCACTTGCTTGCTAATTTCTTGCTGCT... | benign | 75,478 |
Determine if the mutation at chromosome 3, position 146160981 in gene PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bruck_syndrome_2', 'Osteogenesis_imperfecta'] | GATCTTGATATTTATGTCAACGAATAAGCTTCTATTTAGTAATTTTCAGTTGAAACTTGTAAAGAATAAAATAGACCACAGTCCATGATTCTGCCCACTTTATCAAGCAGTTTACCTCTACATTTATTAGTTTATCACATAACCTATGAGAACACCTACCTACACCGAAATTTGTAATCAAACTGACTACTGCTGGCTTCACCTATCACAAATTAGTATTTTCCCACATTTCGACCCTAACCGAATTCTCCATGCCTGCTTACCAAGTGACCAGTCCTCAGATTTAAACAGTGGGTTTCATGTGGTCGTTTCCTGAGGAA... | GATCTTGATATTTATGTCAACGAATAAGCTTCTATTTAGTAATTTTCAGTTGAAACTTGTAAAGAATAAAATAGACCACAGTCCATGATTCTGCCCACTTTATCAAGCAGTTTACCTCTACATTTATTAGTTTATCACATAACCTATGAGAACACCTACCTACACCGAAATTTGTAATCAAACTGACTACTGCTGGCTTCACCTATCACAAATTAGTATTTTCCCACATTTCGACCCTAACCGAATTCTCCATGCCTGCTTACCAAGTGACCAGTCCTCAGATTTAAACAGTGGGTTTCATGTGGTCGTTTCCTGAGGAA... | pathogenic | 75,486 |
Variant in AGTR1 (angiotensin II receptor type 1), chromosome 3, position 148741629—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Essential_hypertension', 'Renal_tubular_dysgenesis'] | AACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCAGCTCTCCTGAATGCCAAGCACAACCATGCTTGGCATGGCAGTGGTGTCTTATTTCTGCTCCTCTTTTTCCCCAGGGCATGCCATTGCAAGAGAATGCTCAGCCATGTTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTG... | AACTTTACTTACTCAGGGAAGGCAAAGAGACCACTTAAGAACTCCTTCACATGTGTTATGTCTTAAAAGCTGACTACTGGAGTTGTATCCCTTGCACAGCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCAGCTCTCCTGAATGCCAAGCACAACCATGCTTGGCATGGCAGTGGTGTCTTATTTCTGCTCCTCTTTTTCCCCAGGGCATGCCATTGCAAGAGAATGCTCAGCCATGTTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTG... | pathogenic | 75,517 |
Chromosome 3, position 148741727, gene AGTR1 (angiotensin II receptor type 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Essential_hypertension,_genetic', 'Renal_tubular_dysgenesis_of_genetic_origin'] | GCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCAGCTCTCCTGAATGCCAAGCACAACCATGCTTGGCATGGCAGTGGTGTCTTATTTCTGCTCCTCTTTTTCCCCAGGGCATGCCATTGCAAGAGAATGCTCAGCCATGTTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTGTCCTGGCCTGTGCCCAATGCTGACCTTCACCTCAGAGTGTGGCTGTACCACATTCGGTGATGTCACTCTCACTGAACCTTCAGCCTCCTTCCTGGGAC... | GCATCCCTTTGCACCAAAGTGAACACTACTCTAAGAACATGTGTTCAGCTCTCCTGAATGCCAAGCACAACCATGCTTGGCATGGCAGTGGTGTCTTATTTCTGCTCCTCTTTTTCCCCAGGGCATGCCATTGCAAGAGAATGCTCAGCCATGTTCATCTGGGGACCTGCTCCTGGTAGAGCAATAGGATCTGTGTGCCCAGCACCACTGCCCACCTAGCTGTCCTGGCCTGTGCCCAATGCTGACCTTCACCTCAGAGTGTGGCTGTACCACATTCGGTGATGTCACTCTCACTGAACCTTCAGCCTCCTTCCTGGGAC... | pathogenic | 75,518 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.