question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Mutation at chromosome 8, position 144512306, within RECQL4 (RecQ like helicase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | AACACTGAGGAGAGCAGGGCAGGACTGAGGGCCCAGGTGGGGAGAAGGGAGGTGGGGGCAGATATGGAACCTCCCGTGCTCATGCCCCCCCCACCACCCAAGGTGAGCAGGGTGCCAGCAGCCTGTTTCCTCTTCTCCTGCTGGACCACGGCGTTTCTGCTCCCGAGTTGGGACTGTGGAATGGTGTGGGTGCTGTGGTCTGCTCCATCGCTGGCTCCTCCCTGGGTGGGACCTTGCTGGCCAAGCACTGGTGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCC... | AACACTGAGGAGAGCAGGGCAGGACTGAGGGCCCAGGTGGGGAGAAGGGAGGTGGGGGCAGATATGGAACCTCCCGTGCTCATGCCCCCCCCACCACCCAAGGTGAGCAGGGTGCCAGCAGCCTGTTTCCTCTTCTCCTGCTGGACCACGGCGTTTCTGCTCCCGAGTTGGGACTGTGGAATGGTGTGGGTGCTGTGGTCTGCTCCATCGCTGGCTCCTCCCTGGGTGGGACCTTGCTGGCCAAGCACTGGTGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCC... | pathogenic | 140,837 |
Mutation at chromosome 8, position 144512307, within RECQL4 (RecQ like helicase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'Congenital_heart_disease', 'Rapadilino_syndrome'] | ACACTGAGGAGAGCAGGGCAGGACTGAGGGCCCAGGTGGGGAGAAGGGAGGTGGGGGCAGATATGGAACCTCCCGTGCTCATGCCCCCCCCACCACCCAAGGTGAGCAGGGTGCCAGCAGCCTGTTTCCTCTTCTCCTGCTGGACCACGGCGTTTCTGCTCCCGAGTTGGGACTGTGGAATGGTGTGGGTGCTGTGGTCTGCTCCATCGCTGGCTCCTCCCTGGGTGGGACCTTGCTGGCCAAGCACTGGTGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCCA... | ACACTGAGGAGAGCAGGGCAGGACTGAGGGCCCAGGTGGGGAGAAGGGAGGTGGGGGCAGATATGGAACCTCCCGTGCTCATGCCCCCCCCACCACCCAAGGTGAGCAGGGTGCCAGCAGCCTGTTTCCTCTTCTCCTGCTGGACCACGGCGTTTCTGCTCCCGAGTTGGGACTGTGGAATGGTGTGGGTGCTGTGGTCTGCTCCATCGCTGGCTCCTCCCTGGGTGGGACCTTGCTGGCCAAGCACTGGTGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCCA... | pathogenic | 140,838 |
Does the genetic variant at chromosome 8, position 144512557, impacting gene RECQL4 (RecQ like helicase 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Baller-Gerold_syndrome'] | TGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCCATTTCCCACCCCCATCCCAGGAAACTGCTGCCTCTGTTGAGGTCGGTGCTGCGCTTCCGCCTCGGGGGCCTAGCCTGTCAGACTGCCTTGGTCTTCCACCTGGACACCCTGGGGGCCAGCATGGACGCTGGCACAATCTTGAGAGGTGAGGGGCTGGCCTTGAGGAGGAAGAGAGGGGCCAGGAGCCTGGGGCACTGCTGACTTCTGCCCTCCCAGGGTCAGCCTTGCTGAGCCTATGTCTGCAGCACTTC... | TGAGCCCTCCCCAGTGTACCCTGCCCACCCACTTGTACCTGAGCTGCCCCCAATCCACTATACTGACCCATTTCCCACCCCCATCCCAGGAAACTGCTGCCTCTGTTGAGGTCGGTGCTGCGCTTCCGCCTCGGGGGCCTAGCCTGTCAGACTGCCTTGGTCTTCCACCTGGACACCCTGGGGGCCAGCATGGACGCTGGCACAATCTTGAGAGGTGAGGGGCTGGCCTTGAGGAGGAAGAGAGGGGCCAGGAGCCTGGGGCACTGCTGACTTCTGCCCTCCCAGGGTCAGCCTTGCTGAGCCTATGTCTGCAGCACTTC... | pathogenic | 140,855 |
Determine if the mutation at chromosome 8, position 144512830 in gene RECQL4 (RecQ like helicase 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CTGCCCTCCCAGGGTCAGCCTTGCTGAGCCTATGTCTGCAGCACTTCTTGGGAGGCCTGGTCACCACAGTCACCTTCACTGGGATGATGCGCTGCAGCCAGCTGGCCCCCAGGGCCCTGCAGGTGAGTAGATGTAGCAGGGACACAAGAGAGACCACGGGGCTGGGGCTGTGTGGGCCTGACCTTGACCGTGACCCCCACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTC... | CTGCCCTCCCAGGGTCAGCCTTGCTGAGCCTATGTCTGCAGCACTTCTTGGGAGGCCTGGTCACCACAGTCACCTTCACTGGGATGATGCGCTGCAGCCAGCTGGCCCCCAGGGCCCTGCAGGTGAGTAGATGTAGCAGGGACACAAGAGAGACCACGGGGCTGGGGCTGTGTGGGCCTGACCTTGACCGTGACCCCCACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTC... | benign | 140,865 |
The genetic variant at chromosome 8, position 144512951, affecting gene RECQL4 (RecQ like helicase 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Baller-Gerold_syndrome', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GGTGAGTAGATGTAGCAGGGACACAAGAGAGACCACGGGGCTGGGGCTGTGTGGGCCTGACCTTGACCGTGACCCCCACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGT... | GGTGAGTAGATGTAGCAGGGACACAAGAGAGACCACGGGGCTGGGGCTGTGTGGGCCTGACCTTGACCGTGACCCCCACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGT... | pathogenic | 140,874 |
Evaluate the clinical significance of the mutation at chromosome 8, position 144513027 in gene RECQL4 (RecQ like helicase 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAG... | CACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAG... | benign | 140,882 |
Classify the chromosome 8 variant at position 144513027 affecting gene RECQL4 (RecQ like helicase 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAG... | CACCCCCCTCAGGCCACACACTACAGCCTTCTGGCCACGCTGGAGCTGCTGGGGAAGCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAG... | benign | 140,883 |
Is the genetic mutation found on chromosome 8 at position 144513083, within the gene RECQL4 (RecQ like helicase 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Baller-Gerold_syndrome'] | GCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGG... | GCTGCTGCTGGGCACTCTGGCCGGAGGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGG... | pathogenic | 140,887 |
Variant on chromosome 8, at position 144513108, affecting RECQL4 (RecQ like helicase 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inborn_genetic_diseases', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGC... | GGCCTGGCTGATGGGTTGGGGCCACATCCCTGCTTCTTGCTCCTGCTCATCCTCTCTGCCTTTCCCGTTCTGTACCTGGACCTAGCACCCAGCACCTTTCTCTGAGCTGAGTGGCTGGAGTGGTCAATAAAGCCACATGTGCCTGTGGCCCAGATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGC... | pathogenic | 140,890 |
A genetic variant on chromosome 8, position 144513260, affects the gene RECQL4 (RecQ like helicase 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Baller-Gerold_syndrome', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGCCCTAGCCTCTGACAACCCCAGCTCTACCCGACATCCCCCAATGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACA... | GATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGCCCTAGCCTCTGACAACCCCAGCTCTACCCGACATCCCCCAATGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACA... | pathogenic | 140,900 |
Variant chromosome 8, position 144513261, gene RECQL4 (RecQ like helicase 4): benign or pathogenic? Disease(s)? | pathogenic; ['Baller-Gerold_syndrome'] | ATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGCCCTAGCCTCTGACAACCCCAGCTCTACCCGACATCCCCCAATGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACAC... | ATGTCTCTGTGCCTGGAATATGTGATGTGCTTGTCCCCAGCTTGTGGGGGTTGCCTCATTGGCCAAGAGGGCCCATAAAAACAAAGTGAGCATTTTTTATTCTGCATTTTGGAGCCTCCTCGTTCCCACACCCTGTGGCAGGTTTTGCCCAGGTCCTCAGTCACTGCCCTAGCCTCTGACAACCCCAGCTCTACCCGACATCCCCCAATGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACAC... | pathogenic | 140,901 |
The mutation impacting RECQL4 (RecQ like helicase 4) on chromosome 8 at position 144513469: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Baller-Gerold_syndrome'] | TGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACACCTGGGCCGGGTAGCAGGGGCTTCCTACGGTGGAGCCAAGACACAGCCGTGAGCCCCAGCCCCAGCCTGCAGCGGGTGGAGCCTCCCAGGCCTCACCTGCCCCAGCCCCCAGCCCCAGCCTGCAGCGGGTGGGGCCTCCCAGGCCTCACCGATGCCGTGGAAGATGCGGGCCACAGCCCTGCTGGAGAACTTCTCCTCTGGCCTCAGGG... | TGCAGTGCAGTCAGCGGGCCACCTGCAGGAGCTCTTCCGTGGCCAGGCCCACCAGGGCATGGAAGCTCAGGTGCAGGTATTTTCTCCAGAAGCGTCGGTCCTGCCCGTACACCTGGGCCGGGTAGCAGGGGCTTCCTACGGTGGAGCCAAGACACAGCCGTGAGCCCCAGCCCCAGCCTGCAGCGGGTGGAGCCTCCCAGGCCTCACCTGCCCCAGCCCCCAGCCCCAGCCTGCAGCGGGTGGGGCCTCCCAGGCCTCACCGATGCCGTGGAAGATGCGGGCCACAGCCCTGCTGGAGAACTTCTCCTCTGGCCTCAGGG... | pathogenic | 140,926 |
Does the genetic variant at chromosome 8, position 144513717, impacting gene RECQL4 (RecQ like helicase 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCCAGGCCTCACCGATGCCGTGGAAGATGCGGGCCACAGCCCTGCTGGAGAACTTCTCCTCTGGCCTCAGGGACAGGAACTGGCGGATGTCGCAGCGGACCTGGTCCTCCCAATCCTGGAGCTGTGTGGACAGGCACATCAGGCTTCCTCTGAGCTCCCGTGGCACTGCATCCACAGAGCAAGCCCCATGCAGCCCAGGGAACCTGCAACCCCGATGAGCTGCCTGGCCTTACTGCACTCACTCTGGCCTGCCCTGGCTCGGGGCCCTGTGCGTCCTCCATGCCTCCCGGCTCCTGCCCTTCCTCTTCCTCAAAGTAGCG... | CCCAGGCCTCACCGATGCCGTGGAAGATGCGGGCCACAGCCCTGCTGGAGAACTTCTCCTCTGGCCTCAGGGACAGGAACTGGCGGATGTCGCAGCGGACCTGGTCCTCCCAATCCTGGAGCTGTGTGGACAGGCACATCAGGCTTCCTCTGAGCTCCCGTGGCACTGCATCCACAGAGCAAGCCCCATGCAGCCCAGGGAACCTGCAACCCCGATGAGCTGCCTGGCCTTACTGCACTCACTCTGGCCTGCCCTGGCTCGGGGCCCTGTGCGTCCTCCATGCCTCCCGGCTCCTGCCCTTCCTCTTCCTCAAAGTAGCG... | benign | 140,951 |
Gene RECQL4 (RecQ like helicase 4) variant at chromosome position 144514982 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['B_lymphoblastic_leukemia_lymphoma_with_t(12%3B21)(p13%3Bq22)%3B_TEL-AML1_(ETV6-RUNX1)', 'Baller-Gerold_syndrome', 'High_grade_surface_osteosarcoma', 'Inborn_genetic_diseases', 'RECQL4-related_disorder', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | CTGCTTGGTGGCTAAGCTGCTCAGCCTCTTGAGGGGGGTACTTGGGCACAGGCCTCTCCCCACCCACGGCCCCTTCCTGCTCCGAGGGCGGCCTGGTGCAGGTGCAGGTGCAGGCTGGGAACACGCGCTGTACCAGCCTCTTCACAGCCAGGAAGTCCGTGCTGTCGGCGTGCACATGTCTGCGCAGCTCTCGCAGGTCTTCGCCCTGCAGGGCAACTTTCATGAGGGTGGGGTGGACCACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTG... | CTGCTTGGTGGCTAAGCTGCTCAGCCTCTTGAGGGGGGTACTTGGGCACAGGCCTCTCCCCACCCACGGCCCCTTCCTGCTCCGAGGGCGGCCTGGTGCAGGTGCAGGTGCAGGCTGGGAACACGCGCTGTACCAGCCTCTTCACAGCCAGGAAGTCCGTGCTGTCGGCGTGCACATGTCTGCGCAGCTCTCGCAGGTCTTCGCCCTGCAGGGCAACTTTCATGAGGGTGGGGTGGACCACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTG... | pathogenic | 141,037 |
The mutation in gene RECQL4 (RecQ like helicase 4) at chromosome 8, position 144514983—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'RECQL4-related_disorder', 'Rothmund-Thomson_syndrome_type_2'] | TGCTTGGTGGCTAAGCTGCTCAGCCTCTTGAGGGGGGTACTTGGGCACAGGCCTCTCCCCACCCACGGCCCCTTCCTGCTCCGAGGGCGGCCTGGTGCAGGTGCAGGTGCAGGCTGGGAACACGCGCTGTACCAGCCTCTTCACAGCCAGGAAGTCCGTGCTGTCGGCGTGCACATGTCTGCGCAGCTCTCGCAGGTCTTCGCCCTGCAGGGCAACTTTCATGAGGGTGGGGTGGACCACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTGC... | TGCTTGGTGGCTAAGCTGCTCAGCCTCTTGAGGGGGGTACTTGGGCACAGGCCTCTCCCCACCCACGGCCCCTTCCTGCTCCGAGGGCGGCCTGGTGCAGGTGCAGGTGCAGGCTGGGAACACGCGCTGTACCAGCCTCTTCACAGCCAGGAAGTCCGTGCTGTCGGCGTGCACATGTCTGCGCAGCTCTCGCAGGTCTTCGCCCTGCAGGGCAACTTTCATGAGGGTGGGGTGGACCACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTGC... | pathogenic | 141,038 |
Determine whether the variant at chromosome 8, position 144515221, in gene RECQL4 (RecQ like helicase 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'RECQL4-related_spectrum_disorders'] | ACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTGCCCGTCACGCCCGGCCCGGCCCACGGCCTGCACGTAGCTCTCGAAGCTTGGGGGCAGCCCCAGATGCAGCACAGCCCGCACATCTGGCCGGTCCAGCCCCATCCCAAAGGCCACCGTGGCCACCACCACCCGCAACTGGCCCTGCATGAAGGCTCGCTGTACCCGCCGCCGTTCCCGGCTGCACATGCCCGCGTGGTAGGCCTCGGCTGTGGTTTTGGGGGCACGACCTTTGGGGAAGA... | ACTGGGGGCTCGAGCACTGGCAGTGTGGGGGGGGGGGGTGCCAACCTGGGGCTGCAGGAAGAGGTGGCAGTGGGCAGGCTGCCCGTCACGCCCGGCCCGGCCCACGGCCTGCACGTAGCTCTCGAAGCTTGGGGGCAGCCCCAGATGCAGCACAGCCCGCACATCTGGCCGGTCCAGCCCCATCCCAAAGGCCACCGTGGCCACCACCACCCGCAACTGGCCCTGCATGAAGGCTCGCTGTACCCGCCGCCGTTCCCGGCTGCACATGCCCGCGTGGTAGGCCTCGGCTGTGGTTTTGGGGGCACGACCTTTGGGGAAGA... | pathogenic | 141,059 |
Regarding the variant found on chromosome 8 at position 144515784 in gene RECQL4 (RecQ like helicase 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGG... | GCAGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGG... | benign | 141,090 |
Variant chromosome 8, position 144515850, gene RECQL4 (RecQ like helicase 4): benign or pathogenic? Disease(s)? | pathogenic; ['Baller-Gerold_syndrome'] | AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCG... | AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCG... | pathogenic | 141,096 |
Is the genetic variant on chromosome 8, position 144515854, gene RECQL4 (RecQ like helicase 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Baller-Gerold_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAG... | GGGGTCGGCGTGGGCGGTGGGGAGTGAGAAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTCAGCAGCCAGGGCCCTGCAGGGTCCCCAGAGCACACACACCCACCTGGTCTGTGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAG... | pathogenic | 141,098 |
Is the chromosome 8, position 144515984 variant in RECQL4 (RecQ like helicase 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Baller-Gerold_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCA... | TGTCCCTGTCCATGGACACGGAAAGGTGCAGGTTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCA... | pathogenic | 141,104 |
Variant chromosome 8, position 144516016, gene RECQL4 (RecQ like helicase 4): benign or pathogenic? Disease(s)? | pathogenic; ['Baller-Gerold_syndrome'] | TTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGC... | TTGGTGGGAACTGGGGCTGGCCCGTGGAGGTCAGGCTCTTCAGCCACAGCCAGGTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGC... | pathogenic | 141,109 |
Mutation found at chromosome 8 position 144516069, gene RECQL4 (RecQ like helicase 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'RECQL4-related_disorder', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCA... | GTGCTGTGCCACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCA... | pathogenic | 141,125 |
The mutation in gene RECQL4 (RecQ like helicase 4) at chromosome 8, position 144516079—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | ACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCACGTGTACCTG... | ACGTCACTGGCAGTGCGGCGTGTGGCTGTGGCTGTGAGGCCCAGGAAGCAGTGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCACGTGTACCTG... | pathogenic | 141,128 |
Determine if the mutation at chromosome 8, position 144516130 in gene RECQL4 (RecQ like helicase 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Baller-Gerold_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | TGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCACGTGTACCTGGGCTGCCCGAATCTGAAGGCAGCAAGATCAGAGGCACAGCCCAGGTGCCCG... | TGCACGCCCATGCGCTCCCGAAGCACCTGCACCAGAGGCGGCAGTGGTGTGAGGCCGCCCAGCCCATCCCGGCCCTGGCCGCCCACCCCAGTTCACATATGGCTCACCTTGCAGACGCGCAGGTAGCAGGGCCGGAAGTTGTGGGACCACTGGGAGAGGCAGTGGGCCTCATCAATGCAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGCCTCCCGCCCCCACCAGTGCCTCAGGTGTCAGCATCAGCACGTGTACCTGGGCTGCCCGAATCTGAAGGCAGCAAGATCAGAGGCACAGCCCAGGTGCCCG... | pathogenic | 141,139 |
Gene mutation in RECQL4 (RecQ like helicase 4) at chromosome 8, position 144516366—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Baller-Gerold_syndrome'] | TGCCTCAGGTGTCAGCATCAGCACGTGTACCTGGGCTGCCCGAATCTGAAGGCAGCAAGATCAGAGGCACAGCCCAGGTGCCCGCCCGCTGCCTCCCTCACCCCTAGGCCCATGAGGCCCCCACCTTCTGCAGGACAGATTCCCGTTGCTTCCTGGTCATGCCCGAGTGTATGCAGGCCGCCTTGAGACACGGTGGCAGGCCAGACACCTGCAAATGCAGGAGCGACAGCCGTCATACGCCAGCCCAGCCCTGGCCCTTCCCCAAGTCATCCCAGAGCTGCTGCCATGTCCATCCTAGTCCCTCAGGGGAGAGGAGAACC... | TGCCTCAGGTGTCAGCATCAGCACGTGTACCTGGGCTGCCCGAATCTGAAGGCAGCAAGATCAGAGGCACAGCCCAGGTGCCCGCCCGCTGCCTCCCTCACCCCTAGGCCCATGAGGCCCCCACCTTCTGCAGGACAGATTCCCGTTGCTTCCTGGTCATGCCCGAGTGTATGCAGGCCGCCTTGAGACACGGTGGCAGGCCAGACACCTGCAAATGCAGGAGCGACAGCCGTCATACGCCAGCCCAGCCCTGGCCCTTCCCCAAGTCATCCCAGAGCTGCTGCCATGTCCATCCTAGTCCCTCAGGGGAGAGGAGAACC... | pathogenic | 141,166 |
Evaluate if the mutation on chromosome 8 at position 144516473 in RECQL4 (RecQ like helicase 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Baller-Gerold_syndrome', 'Rapadilino_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | GCCCATGAGGCCCCCACCTTCTGCAGGACAGATTCCCGTTGCTTCCTGGTCATGCCCGAGTGTATGCAGGCCGCCTTGAGACACGGTGGCAGGCCAGACACCTGCAAATGCAGGAGCGACAGCCGTCATACGCCAGCCCAGCCCTGGCCCTTCCCCAAGTCATCCCAGAGCTGCTGCCATGTCCATCCTAGTCCCTCAGGGGAGAGGAGAACCAGGTCCTGGGTCCTAGGGCTAAGGGTTTAGAGCCACCTGTGGGCCTTGGCCCAGGAGCCCCAGAGCAGACAGACTGAAGTAGGGATGGCTCCTTTCCCAGCACATTT... | GCCCATGAGGCCCCCACCTTCTGCAGGACAGATTCCCGTTGCTTCCTGGTCATGCCCGAGTGTATGCAGGCCGCCTTGAGACACGGTGGCAGGCCAGACACCTGCAAATGCAGGAGCGACAGCCGTCATACGCCAGCCCAGCCCTGGCCCTTCCCCAAGTCATCCCAGAGCTGCTGCCATGTCCATCCTAGTCCCTCAGGGGAGAGGAGAACCAGGTCCTGGGTCCTAGGGCTAAGGGTTTAGAGCCACCTGTGGGCCTTGGCCCAGGAGCCCCAGAGCAGACAGACTGAAGTAGGGATGGCTCCTTTCCCAGCACATTT... | pathogenic | 141,174 |
Determine if the mutation at chromosome 8, position 144516744 in gene RECQL4 (RecQ like helicase 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Baller-Gerold_syndrome', 'Rothmund-Thomson_syndrome_type_2'] | CCCAGAGCAGACAGACTGAAGTAGGGATGGCTCCTTTCCCAGCACATTTCCCGTAGGGGTGGCTGTGGTGCCTGTGGAGCTGGGCTGCCTTTGACCTGCTGCCAAGACTGGGACTGAGGCCACAGACACCTTGAAGCTCCCAGGGGAGGGGGTGGTTAGGGGACAAGCAGCAGTTGCCCTTGGGAGTCACAAGTGCTGGTTCTTGGCTGTGTACGTGTGCCCAGGGCCCTGTGTGCACACCTGGTCATCCATGAGTGACAGCAGGGGAGAGACGACCAACGTGAGGCAGGGGCTGCGCCGGCTGTAGAGCAGCGCTGGGA... | CCCAGAGCAGACAGACTGAAGTAGGGATGGCTCCTTTCCCAGCACATTTCCCGTAGGGGTGGCTGTGGTGCCTGTGGAGCTGGGCTGCCTTTGACCTGCTGCCAAGACTGGGACTGAGGCCACAGACACCTTGAAGCTCCCAGGGGAGGGGGTGGTTAGGGGACAAGCAGCAGTTGCCCTTGGGAGTCACAAGTGCTGGTTCTTGGCTGTGTACGTGTGCCCAGGGCCCTGTGTGCACACCTGGTCATCCATGAGTGACAGCAGGGGAGAGACGACCAACGTGAGGCAGGGGCTGCGCCGGCTGTAGAGCAGCGCTGGGA... | pathogenic | 141,211 |
Mutation found at chromosome 8 position 144517167, gene RECQL4 (RecQ like helicase 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Baller-Gerold_syndrome', 'Congenital_heart_disease'] | GCCCAGCCTCAGCCCTGGCAGCCACGCTCACCAGACAGGATCCGCATGACTGCACGCTCCTGCCCAGGGCGAAAGGCTTGGTGCCCCAGCTGCTCCAGGGCCTGGAACACCTCAGCCGGCGTCTCTGCAGACACAGATGTTGATCACCATGACTTGAGTCACCCCAACCCCTCAGTGAAGGCTCTGGGCCAGAAGCTGACTGCTCACCTGCCAACTGCCCTGAGGGCCCCAGGGAGTAGAGTGGCAGCACGGTGGGGTCCAGGCTGGGCACCTCAGGTACAGGTTGTGGTGAAGGAACCAGTGGCTCAGGCCCAACAGCA... | GCCCAGCCTCAGCCCTGGCAGCCACGCTCACCAGACAGGATCCGCATGACTGCACGCTCCTGCCCAGGGCGAAAGGCTTGGTGCCCCAGCTGCTCCAGGGCCTGGAACACCTCAGCCGGCGTCTCTGCAGACACAGATGTTGATCACCATGACTTGAGTCACCCCAACCCCTCAGTGAAGGCTCTGGGCCAGAAGCTGACTGCTCACCTGCCAACTGCCCTGAGGGCCCCAGGGAGTAGAGTGGCAGCACGGTGGGGTCCAGGCTGGGCACCTCAGGTACAGGTTGTGGTGAAGGAACCAGTGGCTCAGGCCCAACAGCA... | pathogenic | 141,231 |
Benign or pathogenic: chromosome 9, position 215037, gene DOCK8 variant? Disease(s) if pathogenic? | benign | CGTTGAGTCTCAGTTTGAAGAAGTACTTACACATTTGTTCTCTTTGTATTTTGCTATCCAAATGTTTGCTCATAAATTCCAATGTAGTAAATAAGGACAGTTTTGAAAGTCAGAAACTCTAAATTTCAAAAAAGCTTTATTTTTCTTTGGGTTTGTTTTCGTATGTAGTCTATTGTAGTCTATGCAGTGAACTTTGTCTTATATGCTTAAAAGGGCACTGATATTTGGTGGGCATTGGGGGGCGGGGAGTTACCTAACCAGTACTGAAAAGTTACTAAACTACCTGACACAGCTGAAACCAGGAAGGAAGGCTGTATCAG... | CGTTGAGTCTCAGTTTGAAGAAGTACTTACACATTTGTTCTCTTTGTATTTTGCTATCCAAATGTTTGCTCATAAATTCCAATGTAGTAAATAAGGACAGTTTTGAAAGTCAGAAACTCTAAATTTCAAAAAAGCTTTATTTTTCTTTGGGTTTGTTTTCGTATGTAGTCTATTGTAGTCTATGCAGTGAACTTTGTCTTATATGCTTAAAAGGGCACTGATATTTGGTGGGCATTGGGGGGCGGGGAGTTACCTAACCAGTACTGAAAAGTTACTAAACTACCTGACACAGCTGAAACCAGGAAGGAAGGCTGTATCAG... | benign | 141,278 |
Located at chromosome 9 position 289481, the variant affecting gene DOCK8 (dedicator of cytokinesis 8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TATCCTCCTGGACAGGTTCCATCTTCTCATCTTCCCCAGAAGGTCCCAGAAAGAAGATCCTGACACACAGCCCCTGCCCTCTTTACTCTGAGATATTCTAGTTCTATTTTGGATTTTATTTCATCACAGTTTAAGGAGGTTGGATGATAATGGGCTGGTATTATTGTGAACCGTTGCTCTCTTGTTCAGACAGTCCTCACTCACATAGGAGAACTGACCATATGTGTAGCTCTGATGTTTTAAAAATACACACTTCCCAGGAAAGAAAAACATTGTCATTTTTGGGAAACATACTCCCCCATTTTCAGTCCATTTATTCA... | TATCCTCCTGGACAGGTTCCATCTTCTCATCTTCCCCAGAAGGTCCCAGAAAGAAGATCCTGACACACAGCCCCTGCCCTCTTTACTCTGAGATATTCTAGTTCTATTTTGGATTTTATTTCATCACAGTTTAAGGAGGTTGGATGATAATGGGCTGGTATTATTGTGAACCGTTGCTCTCTTGTTCAGACAGTCCTCACTCACATAGGAGAACTGACCATATGTGTAGCTCTGATGTTTTAAAAATACACACTTCCCAGGAAAGAAAAACATTGTCATTTTTGGGAAACATACTCCCCCATTTTCAGTCCATTTATTCA... | benign | 141,304 |
Variant in DOCK8 (dedicator of cytokinesis 8), chromosome 9, position 289590—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGGATTTTATTTCATCACAGTTTAAGGAGGTTGGATGATAATGGGCTGGTATTATTGTGAACCGTTGCTCTCTTGTTCAGACAGTCCTCACTCACATAGGAGAACTGACCATATGTGTAGCTCTGATGTTTTAAAAATACACACTTCCCAGGAAAGAAAAACATTGTCATTTTTGGGAAACATACTCCCCCATTTTCAGTCCATTTATTCAGGTATGACTTTAGTATAAGTTAACACCTACTATTTCATCTTTAGTGAAGAATCATTTAATTTATTCCTTTATGTAAAATTTATGGATGTTTCCAAATATGGTCAGAATC... | TGGATTTTATTTCATCACAGTTTAAGGAGGTTGGATGATAATGGGCTGGTATTATTGTGAACCGTTGCTCTCTTGTTCAGACAGTCCTCACTCACATAGGAGAACTGACCATATGTGTAGCTCTGATGTTTTAAAAATACACACTTCCCAGGAAAGAAAAACATTGTCATTTTTGGGAAACATACTCCCCCATTTTCAGTCCATTTATTCAGGTATGACTTTAGTATAAGTTAACACCTACTATTTCATCTTTAGTGAAGAATCATTTAATTTATTCCTTTATGTAAAATTTATGGATGTTTCCAAATATGGTCAGAATC... | benign | 141,307 |
Mutation found at chromosome 9 position 325692, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['.', 'Combined_immunodeficiency_due_to_DOCK8_deficiency'] | CCGTTAAACAATAACTCCTTATTCTCCCTACTCCCCAGCCCCTGGCAACTCCCATTCTACTTTCTGCCTCTATGAATTTTACTACTCTAGGTGCCTCATGTAAGGGGAATCATGAAGTAACTGTCTTTTTGTGACTGGCTTCTTTTACTCATAATGTCCTCAGGTTCATCTATATTGTAGTATGTATCAGAATCTCCCTCCTTTTATGGCTAAATAATATTCCATTGTATATATGTAGCATATTTTGTTATGGCCTCATATATGTATCTGTTCATGGACAAGTGGGTTACTTCCACCTTTTGGCTATTGTGAATAGTGCT... | CCGTTAAACAATAACTCCTTATTCTCCCTACTCCCCAGCCCCTGGCAACTCCCATTCTACTTTCTGCCTCTATGAATTTTACTACTCTAGGTGCCTCATGTAAGGGGAATCATGAAGTAACTGTCTTTTTGTGACTGGCTTCTTTTACTCATAATGTCCTCAGGTTCATCTATATTGTAGTATGTATCAGAATCTCCCTCCTTTTATGGCTAAATAATATTCCATTGTATATATGTAGCATATTTTGTTATGGCCTCATATATGTATCTGTTCATGGACAAGTGGGTTACTTCCACCTTTTGGCTATTGTGAATAGTGCT... | pathogenic | 141,332 |
A mutation at chromosome position 325811 on chromosome 9 in gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACTGTCTTTTTGTGACTGGCTTCTTTTACTCATAATGTCCTCAGGTTCATCTATATTGTAGTATGTATCAGAATCTCCCTCCTTTTATGGCTAAATAATATTCCATTGTATATATGTAGCATATTTTGTTATGGCCTCATATATGTATCTGTTCATGGACAAGTGGGTTACTTCCACCTTTTGGCTATTGTGAATAGTGCTGCTACTTGGCATTGTTTTTAAGATACATTCACACACATCATTATACGTGATCCTCACAACAACCAGGAAAATGGAAAGGCAAGCATCCTTACCTTATTTTGCAGATAAATAAATGGAAT... | ACTGTCTTTTTGTGACTGGCTTCTTTTACTCATAATGTCCTCAGGTTCATCTATATTGTAGTATGTATCAGAATCTCCCTCCTTTTATGGCTAAATAATATTCCATTGTATATATGTAGCATATTTTGTTATGGCCTCATATATGTATCTGTTCATGGACAAGTGGGTTACTTCCACCTTTTGGCTATTGTGAATAGTGCTGCTACTTGGCATTGTTTTTAAGATACATTCACACACATCATTATACGTGATCCTCACAACAACCAGGAAAATGGAAAGGCAAGCATCCTTACCTTATTTTGCAGATAAATAAATGGAAT... | benign | 141,334 |
Chromosome 9, position 328045, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases'] | GGGGTTATGTATAAAACAAACCCATTTAAATACATTTTTAACAAGCTTGGATGCGCATGTAAAGCTTCCTCAGTTTGAGAGTTCTTTGCACTGTGAAATAGGCTCATGACTGAAGGGCATCTTACATGGTAGAGGTCTCAATTTGTCACAGAGTTCAGACCTTACCAACTGTAATGTGCTTTTAATGAAAACAGTGACCAAGACCTCTCGTGTGTTTTTAATGTTTAGTCATTTTGTGACTCCTAGAAGAGGACAGCAATAGCAAATCCAGAGTAGGATGGACACTTCTGCCCTTCTTTACCCATAATCATTCTGTATTT... | GGGGTTATGTATAAAACAAACCCATTTAAATACATTTTTAACAAGCTTGGATGCGCATGTAAAGCTTCCTCAGTTTGAGAGTTCTTTGCACTGTGAAATAGGCTCATGACTGAAGGGCATCTTACATGGTAGAGGTCTCAATTTGTCACAGAGTTCAGACCTTACCAACTGTAATGTGCTTTTAATGAAAACAGTGACCAAGACCTCTCGTGTGTTTTTAATGTTTAGTCATTTTGTGACTCCTAGAAGAGGACAGCAATAGCAAATCCAGAGTAGGATGGACACTTCTGCCCTTCTTTACCCATAATCATTCTGTATTT... | pathogenic | 141,340 |
Is the genetic change at chromosome 9, position 377360, within gene DOCK8 (dedicator of cytokinesis 8) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGAATTTAAGGCAAGAAACTGTCTGTAAGACCTACGAAGGTAATGATATATAAACGTATAAAAGAGTCACTTTGAGTAATTAAAGCAGGAGCCGACCTGGCCTAGAAACATGTGGGAAACACTTGGAAAAACTGTGGTGAAAGGGAAAGTAATATCGGGTACTCAAAAGTATTAAAATTTCATGTCTTGTAAAGATATTCTATACTTTGTCCTGACAATTCTGATTAATGGGGAAATTGCTGGGATCTTAATTTATTTTAATTCCTAGAATCCAGAATCATCAATGCTGGTTTGGAACTTAGAGACAGATTACACCGTTC... | GGAATTTAAGGCAAGAAACTGTCTGTAAGACCTACGAAGGTAATGATATATAAACGTATAAAAGAGTCACTTTGAGTAATTAAAGCAGGAGCCGACCTGGCCTAGAAACATGTGGGAAACACTTGGAAAAACTGTGGTGAAAGGGAAAGTAATATCGGGTACTCAAAAGTATTAAAATTTCATGTCTTGTAAAGATATTCTATACTTTGTCCTGACAATTCTGATTAATGGGGAAATTGCTGGGATCTTAATTTATTTTAATTCCTAGAATCCAGAATCATCAATGCTGGTTTGGAACTTAGAGACAGATTACACCGTTC... | benign | 141,399 |
Does the chromosome 9 mutation at position 386433 within gene DOCK8 (dedicator of cytokinesis 8) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ATCAAAATCTCTAGGTTTAGACACAGACACAGTTTCACCCTTACAAATTCCAGCCACTTGACACTGTGTGGTGTGAGGAAGGAAATCTGCAGGCCAGGGTTTGGGGCTGGGCGCCAATACTGCCCCGCTGTGTGGCCATGGGAAAGTCATGTAACTGTGCTGGGCCTCATGTCCTCATCTCTGCAGAGGTCCTGGTCCCTGAATGAACTTAAGAACCATCTACCCTGGGTCTTTTAAAAACACTGGATTTGGCCGGGCACCGTGGCTCATGCCAGTAATCCCAGCACTTTCGGAGGCTGAGGCGGGCAGATCACGAGGTC... | ATCAAAATCTCTAGGTTTAGACACAGACACAGTTTCACCCTTACAAATTCCAGCCACTTGACACTGTGTGGTGTGAGGAAGGAAATCTGCAGGCCAGGGTTTGGGGCTGGGCGCCAATACTGCCCCGCTGTGTGGCCATGGGAAAGTCATGTAACTGTGCTGGGCCTCATGTCCTCATCTCTGCAGAGGTCCTGGTCCCTGAATGAACTTAAGAACCATCTACCCTGGGTCTTTTAAAAACACTGGATTTGGCCGGGCACCGTGGCTCATGCCAGTAATCCCAGCACTTTCGGAGGCTGAGGCGGGCAGATCACGAGGTC... | benign | 141,418 |
Variant at chromosome 9, position 399198, gene DOCK8 (dedicator of cytokinesis 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['.', 'Combined_immunodeficiency_due_to_DOCK8_deficiency'] | CCTGGCCAACATGGTGACATGGTGAGACCCTGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTTGTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCA... | CCTGGCCAACATGGTGACATGGTGAGACCCTGTCTCTACTAAAAATATAAAAATTAGCTGAGCATGGTTGTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCA... | pathogenic | 141,438 |
Variant at chromosome 9, position 399266, gene DOCK8 (dedicator of cytokinesis 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGA... | TGTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGA... | benign | 141,441 |
The genetic variant at chromosome 9, position 399267, affecting gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAA... | GTGCATATCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAA... | benign | 141,443 |
Variant in DOCK8 (dedicator of cytokinesis 8), chromosome 9, position 399274—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGC... | TCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGC... | benign | 141,446 |
Gene DOCK8 (dedicator of cytokinesis 8) variant at chromosome 9, position 399274—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGC... | TCTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGC... | benign | 141,447 |
Does the genetic variant at chromosome 9, position 399275, impacting gene DOCK8 (dedicator of cytokinesis 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGCC... | CTGTAATCCCAGCAACTGGGAGGCAGAAGCAAGAGAACTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAATTGCAATATGGACTGTGGTTTAAATGATCATATCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAAGGGTGGTCAGATCACTTGAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATATGGAAAATTAGCC... | benign | 141,448 |
Clinically, how would you classify the variant at chromosome 9, position 405014, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['.'] | TGCAAACTCCGCCTCACAGGTTCAAGCGATTCTCCTTCCTCACCCTCCCGAGTAGCTGGGATTACAGGTGTGTGGCACCACTCCCCGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCTGGCCTCAAGTGATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGAAATGTCTGTCTTGAATGATGTCTCAAGGGACCTATGAAAGATACCCATAGTGGGGCCTTCTTTTAAGTGCCAATGTGTTGTGGGTTCAAGTTCC... | TGCAAACTCCGCCTCACAGGTTCAAGCGATTCTCCTTCCTCACCCTCCCGAGTAGCTGGGATTACAGGTGTGTGGCACCACTCCCCGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCTGGCCTCAAGTGATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCTGAAATGTCTGTCTTGAATGATGTCTCAAGGGACCTATGAAAGATACCCATAGTGGGGCCTTCTTTTAAGTGCCAATGTGTTGTGGGTTCAAGTTCC... | pathogenic | 141,453 |
Is the variant located on chromosome 9 at position 407157, gene DOCK8 (dedicator of cytokinesis 8), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AAGCTATTTCATTTAACTAGCTCAGTTTAATCATGTATTTCCTATAAAGGTTAGTCTTATTAATTTGACAAAAAATCAAACAATTCAAACCAGATCAAGTATGCTACCCTGAAGTTACACCACTAGCTAAGAATTAACAATCTAAGTAATTGGTTTCTCCCCAGGCTCAAGGCTCCCTGATCAGGTTAAGTAAAGCCAAGAATCCAATAAGCCCTATGAAATTTAGAAACTCATAGAAAAGTCTCAAATCTTCCTTTGTCTGACATTAGCCAATTGTTATATTATGCAAATAGAGGATTCCAAAGTAAATAAGTTTTGGA... | AAGCTATTTCATTTAACTAGCTCAGTTTAATCATGTATTTCCTATAAAGGTTAGTCTTATTAATTTGACAAAAAATCAAACAATTCAAACCAGATCAAGTATGCTACCCTGAAGTTACACCACTAGCTAAGAATTAACAATCTAAGTAATTGGTTTCTCCCCAGGCTCAAGGCTCCCTGATCAGGTTAAGTAAAGCCAAGAATCCAATAAGCCCTATGAAATTTAGAAACTCATAGAAAAGTCTCAAATCTTCCTTTGTCTGACATTAGCCAATTGTTATATTATGCAAATAGAGGATTCCAAAGTAAATAAGTTTTGGA... | benign | 141,457 |
Chromosome 9, position 432140, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGGCCAGGAACGATGGCTTTCACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCATTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAGCATGGTGAAATCCTGTCTCTACTATAAATACAAAAATAGCCAGATGTGTTGGCGCATGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGATATTGCAGTGAGCCGAGATTGCCCCATTTCACTCCAGCCTGGACAACAGAGTGAGACTTCATTTCAAAAAATAATAATAATAAAATAAAATAACCAGGTGCAG... | GGGCCAGGAACGATGGCTTTCACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGAGTGGATCATTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAGCATGGTGAAATCCTGTCTCTACTATAAATACAAAAATAGCCAGATGTGTTGGCGCATGCCTGTAATCCAAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGATATTGCAGTGAGCCGAGATTGCCCCATTTCACTCCAGCCTGGACAACAGAGTGAGACTTCATTTCAAAAAATAATAATAATAAAATAAAATAACCAGGTGCAG... | benign | 141,498 |
Variant at chromosome position 434981, chromosome 9, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTCCCATTTGTCTTTTAACTCCAGCTCCTAGCCTGCTCTATGGTAGGGTCTTAATTAAGTGAGAATGAATGAATGAATGTTTTCTTTTATTCCCTTAGTCTGAGAACCCTATTTCCGGAGTCTGTTTTGCCCTCTCGGGCAATGTTGCATCCTCATTCTCAGAATCTTTTTCCTCTCCTCTACATCAAATCGTTCCTCTCTCATTTCATCTTGACCATACTCCTTTAGTTCCATCATTTATATAGAGGTATTCACCAACAAGACCAATCAAACTATGGGCAGTTTAATAAAGGTCTTCAGTGCCTTCACCCAATGAAATG... | GTCCCATTTGTCTTTTAACTCCAGCTCCTAGCCTGCTCTATGGTAGGGTCTTAATTAAGTGAGAATGAATGAATGAATGTTTTCTTTTATTCCCTTAGTCTGAGAACCCTATTTCCGGAGTCTGTTTTGCCCTCTCGGGCAATGTTGCATCCTCATTCTCAGAATCTTTTTCCTCTCCTCTACATCAAATCGTTCCTCTCTCATTTCATCTTGACCATACTCCTTTAGTTCCATCATTTATATAGAGGTATTCACCAACAAGACCAATCAAACTATGGGCAGTTTAATAAAGGTCTTCAGTGCCTTCACCCAATGAAATG... | benign | 141,513 |
Does the variant impacting DOCK8 (dedicator of cytokinesis 8) on chromosome 9, position 441322, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['.'] | TGTGGTCTCTGAGGACACCCTGTCACCTGACGAGGATGGGGTGTGCGCAGGCCAGTACTTCACCGAGAGTGGCCTGGTAGGCCTCCTGGAGCAGGCCGCGGAGCTCTTCAGCACGGTCAGTGCCCAGAGGGCATCCCGGGGCCTGGCCTCCCATACTCCAGCTGGACTTGGGGTGCTGGGAACACCTGGTCTTAATGGCCCAGTCAGCCCCACTTCCCGAGGACACGTGCCAGGGTGTGCGGGGCAGGGGATGGGCCCGGGGAGGACTTTGATGTATGCAAATTGCATGAGCTTCCCAAGGGAGCTGAGATAACCTTTCA... | TGTGGTCTCTGAGGACACCCTGTCACCTGACGAGGATGGGGTGTGCGCAGGCCAGTACTTCACCGAGAGTGGCCTGGTAGGCCTCCTGGAGCAGGCCGCGGAGCTCTTCAGCACGGTCAGTGCCCAGAGGGCATCCCGGGGCCTGGCCTCCCATACTCCAGCTGGACTTGGGGTGCTGGGAACACCTGGTCTTAATGGCCCAGTCAGCCCCACTTCCCGAGGACACGTGCCAGGGTGTGCGGGGCAGGGGATGGGCCCGGGGAGGACTTTGATGTATGCAAATTGCATGAGCTTCCCAAGGGAGCTGAGATAACCTTTCA... | pathogenic | 141,526 |
Chromosome 9, position 451971, gene DOCK8 (dedicator of cytokinesis 8): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATCAGGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGA... | ATCAGGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGA... | benign | 141,550 |
Gene DOCK8 (dedicator of cytokinesis 8) variant at chromosome position 451975 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | benign | 141,551 |
For chromosome 9, position 451975, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | benign | 141,552 |
Regarding the variant at chromosome 9 and position 451975, affecting gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | benign | 141,553 |
Is the genetic change at chromosome 9, position 451975, within gene DOCK8 (dedicator of cytokinesis 8) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | GGTAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAA... | benign | 141,554 |
Gene mutation in DOCK8 (dedicator of cytokinesis 8) at chromosome 9, position 451977—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,556 |
Evaluate this variant at chromosome 9, position 451977, gene DOCK8 (dedicator of cytokinesis 8): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,557 |
Variant at chromosome 9, position 451977, gene DOCK8 (dedicator of cytokinesis 8): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,558 |
Considering the variant on chromosome 9, location 451977, involving gene DOCK8 (dedicator of cytokinesis 8), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,559 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 451977, gene DOCK8 (dedicator of cytokinesis 8): what disease(s) if pathogenic? | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,560 |
Considering the variant on chromosome 9, location 451977, involving gene DOCK8 (dedicator of cytokinesis 8), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | TAAGCAAAACCAGAGGTGGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATG... | benign | 141,561 |
A genetic variant at chromosome 9, position 451994, affecting gene DOCK8 (dedicator of cytokinesis 8)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATGCTTAGTCATGACCAATT... | GGCAGCTCCTCTGGTTCTTATTATTTAGGTTGTCATTATACGTCTGCACCCTTCTTCCTTGGGGTTGATGAGGACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATGCTTAGTCATGACCAATT... | benign | 141,563 |
Gene DOCK8 (dedicator of cytokinesis 8) variant at chromosome position 452067 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['.', 'Combined_immunodeficiency_due_to_DOCK8_deficiency'] | ACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATGCTTAGTCATGACCAATTCACGCAGAGTAATTGCAGGGCTTGAGACTCACCTACAAATGCCTATAGGAGAGAAGGAAAAGGATCTAGAACA... | ACTTTGATCCATAGACAAACACAGAAATGTTCCTACACTTAACCTGAACACCTGTAAGGTTTAGAAGACTTTTAGGAAACCTCTTCCCTTTCATGTAACAACCCCAGGTAAAAAAGAAATCCTAGAGATGAGTGGACCAGGCTTTAAGGAGTACCACTTTCTCAGAGGAGTCTCCACTTCGGGGCCAGACCTGACAATATGATGCAAATCTGGAGTCATGTTGAAGAATGCTTAGTCATGACCAATTCACGCAGAGTAATTGCAGGGCTTGAGACTCACCTACAAATGCCTATAGGAGAGAAGGAAAAGGATCTAGAACA... | pathogenic | 141,565 |
Does the chromosome 9 mutation at position 740769 within gene KANK1 (KN motif and ankyrin repeat domains 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AAGGAGGTTTTGAGGATCTTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAAC... | AAGGAGGTTTTGAGGATCTTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAAC... | benign | 141,683 |
The mutation in gene KANK1 (KN motif and ankyrin repeat domains 1) at chromosome 9, position 740787—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAACAGCATAGAGCAAAGGGCA... | TTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAACAGCATAGAGCAAAGGGCA... | benign | 141,684 |
The chromosome 9, position 740787 genetic variant in gene KANK1 (KN motif and ankyrin repeat domains 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAACAGCATAGAGCAAAGGGCA... | TTCTTGCTGCAGTTCAGCTGCATTCAAAAGTGAGAGGTGTATGCCTGGTAAGAAGCATGTCTCACGTTCCCTCCTGAGCTGAATCATGCGGGCTTGGCCGGTTTGCACTCAGGAGGCAGAGTGCTGCTTACAGGCCCAGGGTCACAGCCTTGGTGCGTGTGGACCACTTGATTTGACCTTACTCCATGACTGCTGTCCTTGCAGAAGTGTGTGGTTAGTCAAGATGGGGACTAAGCAAAGCCACCTTAACAGATGGTCAAATGATCACCATTCTCACCAAAATATACTGTTATTGGGGAAACAGCATAGAGCAAAGGGCA... | benign | 141,685 |
Variant on chromosome 9, at position 2039764, affecting SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTTTGTGAGAACTGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGAT... | CTTTGTGAGAACTGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGAT... | benign | 141,771 |
Clinically, how would you classify the variant at chromosome 9, position 2039776, gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,772 |
Does the chromosome 9 mutation at position 2039776 within gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,773 |
Considering the variant on chromosome 9, location 2039776, involving gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,774 |
Considering the genetic mutation at chromosome 9, position 2039776, impacting SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,775 |
Is the variant located on chromosome 9 at position 2039776, gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,776 |
A genetic variant at chromosome 9, position 2039776, affecting gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,778 |
Variant at chromosome 9, position 2039776, gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,779 |
The mutation in gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2) at chromosome 9, position 2039776—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,780 |
Is the genetic mutation found on chromosome 9 at position 2039776, within the gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | TGTGACACGATTACATTTATTAAAGGGCAGAGACTTTTCATCTATGTATGTAATGCCATATTCTGGGACACCTTTGACTTGATTAATTGGCACTTTGTTTCAGCTCAAGGACACCTTTTGGATTGCTTTAGGCCACTTTGTTCTTTCCTTCATCTTGGAGCTCCCTCCAACAATGTTCAGTCATATGTCTTTCTAGGAATTCTATGGCCAAGCTATGCAGGTCATCTCCTGAAATAAGTCCCTTGAGGTTTTTTGTGCATTTTGATTTTTCTTCCCCAGAAAAGTGTTCTTCAATTTCCCATTTAGATCTCTTATAAACC... | benign | 141,781 |
A mutation at chromosome position 2056861 on chromosome 9 in gene SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TATTGTTACAAAGATATAAAGATATAAATATAGTAAAATAGTGAATCTTTTAGACCAACAGCTTACAACTAAAAATGATGAAGATGAACTGCTTATTATTCTGGTTTTCTCTTCTGTATATGGGAAAGAGTTTTTCCTCCTGTACTATGGGTTACAAAGTCAGAGTTATGGCGTTTTGTTACCATGGATGAAAAACCTTGGGAACAAGTGGGGTAGCTCATGTTTGCTTTTATGACTCCAAGGAAAAACCAGAAGGTAGTGGATTGGAGCTTCTTTGTAAGCACAGATGTAAAGTGCTTGCCACGACTGTGAAAATAATT... | TATTGTTACAAAGATATAAAGATATAAATATAGTAAAATAGTGAATCTTTTAGACCAACAGCTTACAACTAAAAATGATGAAGATGAACTGCTTATTATTCTGGTTTTCTCTTCTGTATATGGGAAAGAGTTTTTCCTCCTGTACTATGGGTTACAAAGTCAGAGTTATGGCGTTTTGTTACCATGGATGAAAAACCTTGGGAACAAGTGGGGTAGCTCATGTTTGCTTTTATGACTCCAAGGAAAAACCAGAAGGTAGTGGATTGGAGCTTCTTTGTAAGCACAGATGTAAAGTGCTTGCCACGACTGTGAAAATAATT... | benign | 141,812 |
Gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2) variant at chromosome 9, position 2717744—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cone_dystrophy_with_supernormal_rod_response', 'Retinal_dystrophy'] | AGGTGAAGCCTTTTCTAATACTACACAACACCCAGAAATCATAAAATAAAGATTTTTACATGGAAAAAATATTAAAGTTAAAACCGAAAAAAGGTGCAATCCATATCACAAGTAAAGGGTCTTTTTTCATAATGTATTAAGCTCTCCTACAAATCAATAAGAAAAATGTAAACAACTCAGTGGAAAATATAGGCAAAGTCGATGAACAGACAGTTCCCAGAAAAAGAAATAGCTTTTAATCACATGAAAAAGTGTTCAATCACATTTATAAGAAATACAAATTAACCCACACATCATTTTTCACTTACAAAATTGGTAGA... | AGGTGAAGCCTTTTCTAATACTACACAACACCCAGAAATCATAAAATAAAGATTTTTACATGGAAAAAATATTAAAGTTAAAACCGAAAAAAGGTGCAATCCATATCACAAGTAAAGGGTCTTTTTTCATAATGTATTAAGCTCTCCTACAAATCAATAAGAAAAATGTAAACAACTCAGTGGAAAATATAGGCAAAGTCGATGAACAGACAGTTCCCAGAAAAAGAAATAGCTTTTAATCACATGAAAAAGTGTTCAATCACATTTATAAGAAATACAAATTAACCCACACATCATTTTTCACTTACAAAATTGGTAGA... | pathogenic | 142,050 |
The genetic variant at chromosome 9, position 2717754, affecting gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | TTTTCTAATACTACACAACACCCAGAAATCATAAAATAAAGATTTTTACATGGAAAAAATATTAAAGTTAAAACCGAAAAAAGGTGCAATCCATATCACAAGTAAAGGGTCTTTTTTCATAATGTATTAAGCTCTCCTACAAATCAATAAGAAAAATGTAAACAACTCAGTGGAAAATATAGGCAAAGTCGATGAACAGACAGTTCCCAGAAAAAGAAATAGCTTTTAATCACATGAAAAAGTGTTCAATCACATTTATAAGAAATACAAATTAACCCACACATCATTTTTCACTTACAAAATTGGTAGAGTTAAAAAAG... | TTTTCTAATACTACACAACACCCAGAAATCATAAAATAAAGATTTTTACATGGAAAAAATATTAAAGTTAAAACCGAAAAAAGGTGCAATCCATATCACAAGTAAAGGGTCTTTTTTCATAATGTATTAAGCTCTCCTACAAATCAATAAGAAAAATGTAAACAACTCAGTGGAAAATATAGGCAAAGTCGATGAACAGACAGTTCCCAGAAAAAGAAATAGCTTTTAATCACATGAAAAAGTGTTCAATCACATTTATAAGAAATACAAATTAACCCACACATCATTTTTCACTTACAAAATTGGTAGAGTTAAAAAAG... | pathogenic | 142,051 |
Is the chromosome 9, position 2718719 variant in KCNV2 (potassium voltage-gated channel modifier subfamily V member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy'] | TGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATTGCCTTAATCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAA... | TGCATCTTTTGTTATCCTTGCATGTTTATATCCCCAACAAAACCAAGAGTTCTTTGACTGCTACAACTGTGTCTCCATCGTGTTTGCATATCCAGCATTTGCACATTGCCTTAATCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAA... | pathogenic | 142,082 |
Chromosome 9, position 2718833, gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cone_dystrophy_with_supernormal_rod_response'] | TCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAAAAAGGAGAGAGAGAAGCTGAAGCTGACTCAAAGATCCGACTGGACCTGAACAGTGCCCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAA... | TCATGAAAAGGGTTTTTTTTTTTTTTTTAAAGTGATGTTTTGAAGGATGAAGAAGACCCTTTTTTTTTGGGTGGAAGTCAGGCTCCCTTTAAATATGGCCTAATATTGCTGAGCAGGGTTGTGAGGCCCTAAAAACGTCTTCCTACCATTCCTGGAATTCTACCTTGAAACATGTCTCTATCCTTTAAGAGAAAGGGAGGAGATAAAAAGGAGAGAGAGAAGCTGAAGCTGACTCAAAGATCCGACTGGACCTGAACAGTGCCCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAA... | pathogenic | 142,085 |
Chromosome 9, position 2719095, gene KCNV2 (potassium voltage-gated channel modifier subfamily V member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cone_dystrophy', 'Retinal_dystrophy'] | CCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAAGGAGATGGCTTTAGATCTTATATGCTCTAAACGAAGAGTTACGCTGAGAGGGAAACTGACTTGTCATGAAGTCAGCTTTGTTCCGTTGCTATGTGTCATCCCTGCTAATGGTGAGTTTACCTAGGGCAGAGGCTACCATCTCAACCATGAAGCTGAAGACACAGGCATCCGTATTCTATAGCTAATTCAGTTGATTTCATCTCAGCACACATACACTGAGCGCTTCCTAAGAGCGAGGTTGACCGACATTTTTATTAGCAAT... | CCCAGGGAGAATCCATTTGAAAAAAAAAAAAAAATGTGATCATGTGAATGGACAAGAAGGAGATGGCTTTAGATCTTATATGCTCTAAACGAAGAGTTACGCTGAGAGGGAAACTGACTTGTCATGAAGTCAGCTTTGTTCCGTTGCTATGTGTCATCCCTGCTAATGGTGAGTTTACCTAGGGCAGAGGCTACCATCTCAACCATGAAGCTGAAGACACAGGCATCCGTATTCTATAGCTAATTCAGTTGATTTCATCTCAGCACACATACACTGAGCGCTTCCTAAGAGCGAGGTTGACCGACATTTTTATTAGCAAT... | pathogenic | 142,088 |
A genetic variant at chromosome 9, position 4125757, affecting gene GLIS3 (GLIS family zinc finger 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Neonatal_diabetes_mellitus_with_congenital_hypothyroidism'] | AGCCTATGTTTATTGTATATGTTTGACTATAACTGGAAGGATGTATATCAAAATTCCACCCATGGTCGTCTCTGGGGACAGAATTCAGGATGACTGTCATTTAGTGCTTGGTACTTTTCCATGTTTTCCACATTTTCTACAGTGAATAAGAATTACATCTTCAGGAAAAACAATACATTTTGCAGCTTTTCATAGGGCAGCATCTCTCAAACTGGACAGTTCATGCCCCCTTTTCCACTTCCATCCACTCCCAGCATGCCCCCAATGTATAAAACGCTAAGCTGATTCTCTCTCCATCTTCTCTTTATCTCCAGTAAAAT... | AGCCTATGTTTATTGTATATGTTTGACTATAACTGGAAGGATGTATATCAAAATTCCACCCATGGTCGTCTCTGGGGACAGAATTCAGGATGACTGTCATTTAGTGCTTGGTACTTTTCCATGTTTTCCACATTTTCTACAGTGAATAAGAATTACATCTTCAGGAAAAACAATACATTTTGCAGCTTTTCATAGGGCAGCATCTCTCAAACTGGACAGTTCATGCCCCCTTTTCCACTTCCATCCACTCCCAGCATGCCCCCAATGTATAAAACGCTAAGCTGATTCTCTCTCCATCTTCTCTTTATCTCCAGTAAAAT... | pathogenic | 142,169 |
Is the genetic variant on chromosome 9, position 6534735, gene GLDC (glycine decarboxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glycine_encephalopathy'] | TAAGTCTCCAGGATAGCCTCTATGACATCTGCAAACTTGCCACATTAAAAGTTAAAGTTCCTAAAACTTTCTACGCAAAACACAAAATGGCTCCCAATCCAGGCAACTGGCACATGTGGAAGCAGAATACCAAAGCAAATCCGTCTTCCAACCATCAGCTTCGACTCCCTCCAGCTACTGTATTTACATTTACCTTGACAGAGATTACAGAGATATACACAGTATATAAAACTCCTACTTGAGGCTGGGGTGGGAGATGAAATCTTTCTTGCTTATCAAATGCTCTGGGGAGAGGCATCAAATCAGTCCTTTAAACTTAG... | TAAGTCTCCAGGATAGCCTCTATGACATCTGCAAACTTGCCACATTAAAAGTTAAAGTTCCTAAAACTTTCTACGCAAAACACAAAATGGCTCCCAATCCAGGCAACTGGCACATGTGGAAGCAGAATACCAAAGCAAATCCGTCTTCCAACCATCAGCTTCGACTCCCTCCAGCTACTGTATTTACATTTACCTTGACAGAGATTACAGAGATATACACAGTATATAAAACTCCTACTTGAGGCTGGGGTGGGAGATGAAATCTTTCTTGCTTATCAAATGCTCTGGGGAGAGGCATCAAATCAGTCCTTTAAACTTAG... | pathogenic | 142,280 |
Chromosome 9, position 6550887, gene GLDC (glycine decarboxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycine_encephalopathy'] | TCTCAAAGGTATCTTTGCTCTCCCTTCTCACAGCTTAAAATCATGTTGTTTTCATAGTTAAAAAGAAAATATAACTACATCCTACTGAAGCAGCCCCCTCCTCCTTCACTACCTGCAAACATGGAATCCTTTTCCCCTCTCCTTCCCGACCTCCATCCACATCTCAGCCCATTTTAAACACCCAGCGTCTGCCTCACCATTGTGCCCAAACTACTTTCAAAGGCTACCAAAGGCTTCCTAATTGTTATAGACAAAGGTTCCTTTTAAGACTCATAATTTAAAATCAGATGTCAATCATACCTCAGTAAAAGCAGAAAAAA... | TCTCAAAGGTATCTTTGCTCTCCCTTCTCACAGCTTAAAATCATGTTGTTTTCATAGTTAAAAAGAAAATATAACTACATCCTACTGAAGCAGCCCCCTCCTCCTTCACTACCTGCAAACATGGAATCCTTTTCCCCTCTCCTTCCCGACCTCCATCCACATCTCAGCCCATTTTAAACACCCAGCGTCTGCCTCACCATTGTGCCCAAACTACTTTCAAAGGCTACCAAAGGCTTCCTAATTGTTATAGACAAAGGTTCCTTTTAAGACTCATAATTTAAAATCAGATGTCAATCATACCTCAGTAAAAGCAGAAAAAA... | pathogenic | 142,310 |
Mutation at chromosome 9, position 6553398, within GLDC (glycine decarboxylase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glycine_encephalopathy'] | TTGTCCCTAGTAGAGGCTGCTTATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAA... | TTGTCCCTAGTAGAGGCTGCTTATGTTTAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAA... | pathogenic | 142,315 |
Clinically, how would you classify the variant at chromosome 9, position 6553425, gene GLDC (glycine decarboxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glycine_encephalopathy'] | TAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGA... | TAAAAACTGCTCAATCTTGTCCTGGTAGTTAAGAGTCCCTGTGATCATAAGGGATACACATCATCACTGCAAAGAGCTTCAAATCAAGACTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGA... | pathogenic | 142,318 |
For chromosome 9, position 6553514, gene GLDC (glycine decarboxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | benign | 142,322 |
Does the variant on chromosome 9 at location 6553514 affecting gene GLDC (glycine decarboxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | benign | 142,323 |
The mutation in gene GLDC (glycine decarboxylase) at chromosome 9, position 6553514—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | CTGCACCAATTCTTATGGCCTACTTTCTTCCCAGAGTACCTCACATGTGATGGAGTTGGCATATATATTAAATACATAACTAATGTAAAGAGAATGAGAGAGCACCAAATAAAACAACAGTAGTACTTTGGTATCATTAAGGGGGTCCAAAGTAAAAAGGGGCCACATTGCTCCAGGCTGGTCAAAGAAGGGTTCCTAGATTAAGAGCCAGAACTTGGCTAGAAACTTAGAAATAAGTAGAATTCGGATAGGGAAAGAGAAAGGAGAAGGTATACCAGGTGAGAAGAATGGCAGAAATGAAGGCGTGGAAGGGGAGGGCA... | benign | 142,324 |
Regarding the variant at chromosome 9 and position 6556165, affecting gene GLDC (glycine decarboxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1'] | TTTCCCAAGATGATTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAA... | TTTCCCAAGATGATTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAA... | pathogenic | 142,341 |
A genetic alteration at chromosome 9, position 6556168, in gene GLDC (glycine decarboxylase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycine_encephalopathy'] | CCCAAGATGATTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAACTG... | CCCAAGATGATTTGATTTCAGTGTAAAAAGTTATCCACAGCTAAGAAATATTCCTTCAGTCCTACTCTGGCTTCATCCAATTATTTCTAGTAACCAGGTTTGTTTCTTCCTTACTTATGTGTTACTTATCTCAACACCTTACATCTAATTCACTTTCAATGGAACCATTAGCTGATTTTAAAAAAGAAAAAAAAAATGCTAGGAAATCCAAAAGTCCGAAAGGCACTTTCTAGTGCCAATATTCCAGTTACAATACGTATGCTCAGGTGAAGTTCCCTATTCATTATTCTGTTAATAAACCTGCTGTCTATGTGCAACTG... | pathogenic | 142,342 |
Is the chromosome 9, position 6565410 variant in GLDC (glycine decarboxylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glycine_encephalopathy'] | TGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTAATCATTCCTTAGAAAGCTG... | TGCAAACACTGCTTTCTGCGGCCTCTCCGCCAAGCAGTGGAGGAGTCGGGTGGAGATGTCACACAGGACAGGCTGCCCCTTTCCAGCATCCCCAGGCTCCTGGGCACCTCGTGGTGAAAGATACTAATGAAGAGGAACTCCAGAGACGACCTCAGAACATGGAAGCCATGAGGGAAAAACAGACAGGAGAGAATCTGGCATTGTTTTACTGGCTGGACACCTGGAGCTCCAAAGTTTCCTTTCTGATTCTGTGAAAGTGCCGAGACTCTCAGGTCCCAAGAGCAATTATAGTTCTAAACTAATCATTCCTTAGAAAGCTG... | pathogenic | 142,358 |
Clinically, how would you classify the variant at chromosome 9, position 6604591, gene GLDC (glycine decarboxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['GLDC-related_disorder', 'Glycine_encephalopathy', 'Glycine_encephalopathy_1'] | GGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCAGGATTACTGATTTTTAGACTGTACTCTGAGACACCAAGATATATACAATAAGTCTAGGAATTTTGAAAGAAAATTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACA... | GGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCAGGATTACTGATTTTTAGACTGTACTCTGAGACACCAAGATATATACAATAAGTCTAGGAATTTTGAAAGAAAATTTTGCAGGAATTTCCCAGACAAATACAATAATGGTGACTGGGAGGATTAAGTTTCACTCTGAACTTCTTAGGAGACACAGGAAAAGTGGAAATATACGACAAAATTGAAAAGACTTGGCTCTCTGTGGATTCTACA... | pathogenic | 142,427 |
A genetic variant at chromosome 9, position 6605144, affecting gene GLDC (glycine decarboxylase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycine_encephalopathy'] | CAGGCACCTGTAATCTCAGTTACTTGGGAGGCTGAGGCTCAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAAAATAAAAAAAAAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAG... | CAGGCACCTGTAATCTCAGTTACTTGGGAGGCTGAGGCTCAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAAAATAAAAAAAAAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAG... | pathogenic | 142,438 |
Gene mutation in GLDC (glycine decarboxylase) at chromosome 9, position 6605198—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycine_encephalopathy'] | CCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAAAATAAAAAAAAAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAGCCTGAGCAATATGGTGAAACCCTGTTTTTACAAAAAATTTAAAAAATTAGTTGG... | CCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAAAATAAAAAAAAAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAGCCTGAGCAATATGGTGAAACCCTGTTTTTACAAAAAATTTAAAAAATTAGTTGG... | pathogenic | 142,443 |
Does the genetic variant at chromosome 9, position 6605290, impacting gene GLDC (glycine decarboxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAGCCTGAGCAATATGGTGAAACCCTGTTTTTACAAAAAATTTAAAAAATTAGTTGGACACAGTGGCCACGTTTACACCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTTGGTCTCAAAATAAATAAATAAATAAATAAATAAAAT... | AAAAAACAAATCACACAAATTTTTAAAAACAATACAGTGTAACAACCATTGCATAACATTAGGTGTTAATAAGATGATTTAAAGTATACAGAGGCCAGGCATGGTGGCTTACACCTGGTAATCCGAGCATTTTGGGAGGCTGGGGTGGGCAGATCACTTGAGCCCTAAGACCAGCCTGAGCAATATGGTGAAACCCTGTTTTTACAAAAAATTTAAAAAATTAGTTGGACACAGTGGCCACGTTTACACCACTGCACTCCAGCCTGGGTGATGGAGTGAGACTTGGTCTCAAAATAAATAAATAAATAAATAAATAAAAT... | benign | 142,445 |
Benign or pathogenic: chromosome 9, position 6645371, gene GLDC (glycine decarboxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Glycine_encephalopathy'] | CAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATT... | CAGCAGCCCTCAGCATAGCCTGAGCAGCCAACCTGAAGCAGATAGGCTCCATACCTCAAATGTCCACCTTCAAACAAAATAAAGCTTGCCATCTGCACACTAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATT... | pathogenic | 142,483 |
Variant in gene GLDC (glycine decarboxylase), located at chromosome 9 position 6645471: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycine_encephalopathy'] | TAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAA... | TAGATCCTTTCTATCATAGCAACAAAATAAAACAGCTGCTCTCTCTTCATTTGACTCTAGAAGAAAAAGAGATAAGTATCTCCATGATTGAAAGTGAGATAACCAGATGAGATTTTTTTTAAGAGCTCAGCCTGTGCCCTTGACTTATGGATTGTCCCCCCACCCCATGGAAGTCAAATACCCACATAAAAATACCCCTGAAAAGCAATCTTGGACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAA... | pathogenic | 142,487 |
The mutation in gene GLDC at chromosome 9, position 6645684—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTCGTGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGACGGATTGCCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGAAGAAACCCTGTCTCTAATAAAAATATAAAAATGAGCCTGGTGTGGTGGTGCGCCCCTGTAATCCCAGCTAGTCAAGAGGCTGAGGCAGGAGAATTGCTTGAA... | GACCATTAAAAATATTTTAAACCTAAAATAAAATTCTAAGAAAGTCTATGACTAAACTGACCTTTCTTAAACAAATGTAAATCTTATTTGTGTGTTTTTCTAGAAAAACCATTCGGGGTAGGGCACAGTGACTCGTGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGACGGATTGCCTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGAAGAAACCCTGTCTCTAATAAAAATATAAAAATGAGCCTGGTGTGGTGGTGCGCCCCTGTAATCCCAGCTAGTCAAGAGGCTGAGGCAGGAGAATTGCTTGAA... | benign | 142,491 |
Is the chromosome 9, position 12695544 variant in TYRP1 (tyrosinase related protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic | TATGGGGAGTGGGTGGACACGTGCCAAAACTCCATTAGTGTAAGGGACTTTAAATCACAGAAATTAACTTGCTGGAAATCTGTTCCCAATTCTTCCTTCAGCTCCAAGGTTAAATTAAATGTAATTAATGATGGTGACCTGCTAATTCATGCTTTTGATAACTGATATCTAGTATGTATATATATATAAACAAAATGACGAGGACAGGGAATTTAATTATTTGGGTATCACACATGCAGGTGTTATATATGCCAAATTTTAAAGGTAAAATTTGTGTGAAATGTCACACTTTTATTATTTGTGTGAAATGTCATTTTACA... | TATGGGGAGTGGGTGGACACGTGCCAAAACTCCATTAGTGTAAGGGACTTTAAATCACAGAAATTAACTTGCTGGAAATCTGTTCCCAATTCTTCCTTCAGCTCCAAGGTTAAATTAAATGTAATTAATGATGGTGACCTGCTAATTCATGCTTTTGATAACTGATATCTAGTATGTATATATATATAAACAAAATGACGAGGACAGGGAATTTAATTATTTGGGTATCACACATGCAGGTGTTATATATGCCAAATTTTAAAGGTAAAATTTGTGTGAAATGTCACACTTTTATTATTTGTGTGAAATGTCATTTTACA... | pathogenic | 142,527 |
A genetic alteration at chromosome 9, position 12698521, in gene TYRP1 (tyrosinase related protein 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['MELANESIAN_BLOND_HAIR', 'Oculocutaneous_albinism_type_3'] | GTATATTTATATCAAAGCACCATGTTGTACACCTAAAATATGTAAAATTTGAAAAAAAGTTGAAAAATATCAAAATAATTATATCAGTCAGGCAATATTTTTAGTGAAAAGACATTGGCTTTTTATTTGGCACAAAGTGAACCTCAACTCAAGCAGTTATTTCATGCTTATTTTCTAAGCAGATAAGCTTCAAACATATTAAAGTATCTAGTTACGTAGATTCTTTACTCTTATTTCTTTTACCAACTGCTCTGTTCCTTGAGAAAAATATGGAAATTTTAAAATAAAAGTTTAAGTTGTTAGATCTCAACTAGGAAATC... | GTATATTTATATCAAAGCACCATGTTGTACACCTAAAATATGTAAAATTTGAAAAAAAGTTGAAAAATATCAAAATAATTATATCAGTCAGGCAATATTTTTAGTGAAAAGACATTGGCTTTTTATTTGGCACAAAGTGAACCTCAACTCAAGCAGTTATTTCATGCTTATTTTCTAAGCAGATAAGCTTCAAACATATTAAAGTATCTAGTTACGTAGATTCTTTACTCTTATTTCTTTTACCAACTGCTCTGTTCCTTGAGAAAAATATGGAAATTTTAAAATAAAAGTTTAAGTTGTTAGATCTCAACTAGGAAATC... | pathogenic | 142,534 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 12702410, gene TYRP1. What disease(s) is it linked to if pathogenic? | pathogenic; ['MELANESIAN_BLOND_HAIR', 'Oculocutaneous_albinism_type_3', 'TYRP1-related_disorder'] | TTCAAAATTAATGCGCCAAACTTGGTGGATTGAAAATAGTTAATATTTTATTGCAGCTAACGTTCTTCCAGCCACCAAAATACCATCTTTGAATCAACATAGAAAAACACTGTTCTTTATTCACAGTACTTCTCAAATATATTTTCTTCTTCAGACATGGGCAACTTTCCATTTATTTTTATGTGGAAATTCCACAGGACTTTGGTCCATAGGATGTTAGGTGCAATGGCAGAGTTTGTCCATATGCAAACAAATTTAAGAATCACTGGAATAAAAAACAAACTGGTTTATTTTTTATATAAACTAGTTTCTTTACTGTC... | TTCAAAATTAATGCGCCAAACTTGGTGGATTGAAAATAGTTAATATTTTATTGCAGCTAACGTTCTTCCAGCCACCAAAATACCATCTTTGAATCAACATAGAAAAACACTGTTCTTTATTCACAGTACTTCTCAAATATATTTTCTTCTTCAGACATGGGCAACTTTCCATTTATTTTTATGTGGAAATTCCACAGGACTTTGGTCCATAGGATGTTAGGTGCAATGGCAGAGTTTGTCCATATGCAAACAAATTTAAGAATCACTGGAATAAAAAACAAACTGGTTTATTTTTTATATAAACTAGTTTCTTTACTGTC... | pathogenic | 142,538 |
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