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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 16, position 23636239, gene PALB2 (partner and localizer of BRCA2) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAG... | CCAGGTTTGAATCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAG... | pathogenic | 249,989 |
Is chromosome 16, position 23636250, gene PALB2 (partner and localizer of BRCA2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast'] | TCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTA... | TCCTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTA... | pathogenic | 249,992 |
Variant at chromosome 16, position 23636252, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACA... | CTGGCTCTGTGATTTTAATTAAATTAAGTAAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACA... | pathogenic | 249,993 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23636281: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCT... | AAAGTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCT... | pathogenic | 250,001 |
The chromosome 16, position 23636284 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast'] | GTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAG... | GTTATTTTAATCTCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAG... | pathogenic | 250,002 |
A mutation at chromosome position 23636296 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACA... | TCCCTGTACTTTAGTTTCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACA... | pathogenic | 250,003 |
For chromosome 16, position 23636312, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGAT... | TCCTCACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGAT... | pathogenic | 250,006 |
A mutation at chromosome position 23636316 on chromosome 16 in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Colorectal_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition'] | CACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAG... | CACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAG... | pathogenic | 250,007 |
Chromosome 16, position 23636316, gene PALB2 (partner and localizer of BRCA2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAG... | CACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAG... | pathogenic | 250,008 |
The chromosome 16, position 23636317 genetic variant in gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGG... | ACCTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGG... | pathogenic | 250,009 |
Mutation at chromosome 16, position 23636319, within PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast_cancer,_susceptibility_to', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | CTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCT... | CTGTAAAGTGAGAATGAAAATAGATTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCT... | pathogenic | 250,010 |
Does the chromosome 16 mutation at position 23636343 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCTGCACCACGGCACTCCAGCCTGGAC... | TTCTACCTCACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCTGCACCACGGCACTCCAGCCTGGAC... | benign | 250,017 |
Gene PALB2 (partner and localizer of BRCA2) variant at chromosome position 23636352 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCTGCACCACGGCACTCCAGCCTGGACAACAGTGAG... | ACATAGGACTGCTGTGATGATTCAATGAGTTAGTATCTGTACAACATTTAGAAAGTGCCAGGCAAGCTGGACACAGTGGCTCACGTCTGTAATCCCAGCACTTTGAGAGGCTGTGGTGGGAGGATTGTTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACAGGGCAGGACCTCACCTCTACAAAAAATTTTAAAACATTAGCCAGGCATGGTGGTACATGCCAGTAGTCCCAGCTAGTTGGGAGGCTGAGGCAGGAGGAACATTTGAGCCCAGGAGATAGAGGCTGCACCACGGCACTCCAGCCTGGACAACAGTGAG... | benign | 250,019 |
Does the chromosome 16 mutation at position 23637856 within gene PALB2 (partner and localizer of BRCA2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTCGCCCTGGTGAAATTAGGTCTTCTTAGGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCT... | AGTCGCCCTGGTGAAATTAGGTCTTCTTAGGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCT... | pathogenic | 250,030 |
The genetic variant at chromosome 16, position 23637875, affecting gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTCTTCTTAGGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTC... | GGTCTTCTTAGGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTC... | pathogenic | 250,038 |
For chromosome 16, position 23637885, gene PALB2: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Breast_and/or_ovarian_cancer', 'Colorectal_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_disorder', 'Pancreatic_... | GGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTG... | GGAATGTATCAACACCTTTTTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTG... | pathogenic | 250,041 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23637904, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGG... | TTCTGGTTGGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGG... | pathogenic | 250,045 |
Variant in gene PALB2 (partner and localizer of BRCA2), located at chromosome 16 position 23637912: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCT... | GGGCAGTTGGTGGAATTAATACACTGTCTTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCT... | pathogenic | 250,047 |
Variant in PALB2 (partner and localizer of BRCA2), chromosome 16, position 23637940—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast'] | TTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGC... | TTCATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGC... | pathogenic | 250,049 |
Is the genetic mutation found on chromosome 16 at position 23637942, within the gene PALB2 (partner and localizer of BRCA2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCA... | CATTAATTTCTGTAACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCA... | pathogenic | 250,050 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23637955, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | benign | AACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAA... | AACTGGTTCTGGAGAATCTGGAAGTTCAGATTTAAGACTTAAAAGGTGAGTTCTTATTTCAGTTACTGGTGATCTAGCAGGATTTTTGCTACTGATTTCTTCCTGTTCCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAA... | benign | 250,057 |
Considering the variant on chromosome 16, location 23638062, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGT... | CCTTTAGTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGT... | benign | 250,066 |
Variant at chromosome 16, position 23638068, gene PALB2 (partner and localizer of BRCA2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAG... | GTCTTTTCCCAGACAATCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAG... | pathogenic | 250,067 |
Is the genetic mutation found on chromosome 16 at position 23638084, within the gene PALB2 (partner and localizer of BRCA2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'PALB2-related_cancer_predisposition', 'Pancreatic_cancer,_susceptibility_to,_3'] | TCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTAT... | TCTGAGTGAATCAGTGCCAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTAT... | pathogenic | 250,074 |
Determine whether the variant at chromosome 16, position 23638101, in gene PALB2 (partner and localizer of BRCA2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCT... | CAAAGACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCT... | pathogenic | 250,082 |
Variant at chromosome position 23638105, chromosome 16, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATA... | GACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATA... | pathogenic | 250,084 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23638105, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_5', 'Fanconi_anemia_complementation_group_N', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_3'] | GACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATA... | GACACAGTCTCTCTCCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATA... | pathogenic | 250,085 |
Variant chromosome 16, position 23638119, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATAAAATAAAACAAAAA... | CCTGTGAAATAAATGTCCTCTTCTGCTGCTTCTTTCTTCTGCTTGGCAGCTTCTGCTTTTGCTCACCACTAGGGTCACTGACCCTGTGGGGAAAATGTTCTTGGGTGTCATCTGTTCTTTGTATAGGTAATCCTCCTGGGCCATCTCCAGGGTTAAAGGACTCAGGCCCAACATCAAGTGTGATAGATGTCTTTTCTCCAGTTTCTTCATCAAGATGGGTTTTGATGTGTAACTTGTCATAAACACATATTTTATTTTTAGGTTCTGAGGAGGAAAAAAATGTATATAACTTATATTTTTCTTATAAAATAAAACAAAAA... | pathogenic | 250,088 |
Considering the variant on chromosome 16, location 23641099, involving gene PALB2 (partner and localizer of BRCA2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TCAAATTACTGTTCTCTGAAAGCCTAGATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACT... | TCAAATTACTGTTCTCTGAAAGCCTAGATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACT... | benign | 250,098 |
Does the variant impacting PALB2 (partner and localizer of BRCA2) on chromosome 16, position 23641122, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTAGATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGT... | CTAGATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGT... | pathogenic | 250,108 |
Regarding the variant found on chromosome 16 at position 23641126 in gene PALB2 (partner and localizer of BRCA2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGG... | ATTCCCTCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGG... | pathogenic | 250,109 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 23641132, gene PALB2 (partner and localizer of BRCA2): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGG... | TCGTCTCTCTGGCTTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGG... | pathogenic | 250,112 |
Clinical classification of chromosome 16, position 23641145, gene PALB2 (partner and localizer of BRCA2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAG... | TTCTTTGCTTCAAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAG... | pathogenic | 250,120 |
The genetic variant at chromosome 16, position 27573918, affecting gene KATNIP (katanin interacting protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; [] | TGTGGTCAAGGGTTTCTGGGAGCTGCTCATTCTAGCTCCTATCCCAGAGCAGCAAGCCTCAGGAGGTCCTGATAAAATTGGCCTAACAATCAAATCTCTTGATCCCTAAATCCTGGGGGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTTTAACTAATAAACTGGTTTTTAGAGCGTTCAGCAAAATTGAGCAGAAATTACAGAGAGCTCCCATATACCCCTGTCCCCACATACATCTCCCCAACTATCAACACCCCACACTGGGCTGGGTGTGGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGG... | TGTGGTCAAGGGTTTCTGGGAGCTGCTCATTCTAGCTCCTATCCCAGAGCAGCAAGCCTCAGGAGGTCCTGATAAAATTGGCCTAACAATCAAATCTCTTGATCCCTAAATCCTGGGGGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTTTAACTAATAAACTGGTTTTTAGAGCGTTCAGCAAAATTGAGCAGAAATTACAGAGAGCTCCCATATACCCCTGTCCCCACATACATCTCCCCAACTATCAACACCCCACACTGGGCTGGGTGTGGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGTGGGG... | pathogenic | 250,194 |
Does the variant on chromosome 16 at location 27740669 affecting gene KATNIP (katanin interacting protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic | TGTATGTCATGTGGAGAGCTTTGGAATTTATCCCATCATCGGCATGGTTCTGCACCCCGTCGTGTGAAGAAATCATCCGGAGAACTTGTTCTGAGTCCAGAAGTTACCTACAGGCTGCCTTGAGGCAGTGGTCCTCACACGGCATCCTCCTGGCTCCCTTCCAACTGCAGCTGCCGTGAACATGGGACAGTCCCCGCATGTGGACAGTGCCCTGCCTCAGGTGCTCGTGGGGTGCTCTGCCGTGGGAGCACACTCAGCTCGTGCATGTGTTGGGGCATCAGTGCCCTGAGGGCAGCCTTCAACAAGCAGTGGATAAATGT... | TGTATGTCATGTGGAGAGCTTTGGAATTTATCCCATCATCGGCATGGTTCTGCACCCCGTCGTGTGAAGAAATCATCCGGAGAACTTGTTCTGAGTCCAGAAGTTACCTACAGGCTGCCTTGAGGCAGTGGTCCTCACACGGCATCCTCCTGGCTCCCTTCCAACTGCAGCTGCCGTGAACATGGGACAGTCCCCGCATGTGGACAGTGCCCTGCCTCAGGTGCTCGTGGGGTGCTCTGCCGTGGGAGCACACTCAGCTCGTGCATGTGTTGGGGCATCAGTGCCCTGAGGGCAGCCTTCAACAAGCAGTGGATAAATGT... | pathogenic | 250,233 |
Does the genetic variant at chromosome 16, position 28477815, impacting gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | AAAGGTTAGTTGCTTTAATGAAAAATATTAAGTAAATAAAAGTACTGTTAGGTTCAGATATGGCAAATATAGTAGAAAGGGTAACAATGAAGTATGAGAAACACTAAGTCAGACTCAGTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGCGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCAAGCCACCACACCTGGCTAATTTTTTATATTTTTCGTAGAGACGGGGTTTTGTC... | AAAGGTTAGTTGCTTTAATGAAAAATATTAAGTAAATAAAAGTACTGTTAGGTTCAGATATGGCAAATATAGTAGAAAGGGTAACAATGAAGTATGAGAAACACTAAGTCAGACTCAGTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGCGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCAAGCCACCACACCTGGCTAATTTTTTATATTTTTCGTAGAGACGGGGTTTTGTC... | pathogenic | 250,299 |
A genetic alteration at chromosome 16, position 28477858, in gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | ACTGTTAGGTTCAGATATGGCAAATATAGTAGAAAGGGTAACAATGAAGTATGAGAAACACTAAGTCAGACTCAGTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGCGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCAAGCCACCACACCTGGCTAATTTTTTATATTTTTCGTAGAGACGGGGTTTTGTCACGTTGTGCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCT... | ACTGTTAGGTTCAGATATGGCAAATATAGTAGAAAGGGTAACAATGAAGTATGAGAAACACTAAGTCAGACTCAGTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGCGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCAAGCCACCACACCTGGCTAATTTTTTATATTTTTCGTAGAGACGGGGTTTTGTCACGTTGTGCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCT... | pathogenic | 250,300 |
Clinical classification of chromosome 16, position 28482167, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CCCTGTTGTTGTTTTTTGTAGAGATGAGGTCTCGTGATGTTACCCAGGCTGCTCTCTCAAACTTCTGGGCTCAAGCAATTCTCCCACCTGGCTTATTTTTTTTTTTAATTTTTTGTAGAGGTGGGGGGTCTCACTATGTTGTCCAGTCTGGTCTCAAGCTCCTGGCTTCGAGTGATCCTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGT... | CCCTGTTGTTGTTTTTTGTAGAGATGAGGTCTCGTGATGTTACCCAGGCTGCTCTCTCAAACTTCTGGGCTCAAGCAATTCTCCCACCTGGCTTATTTTTTTTTTTAATTTTTTGTAGAGGTGGGGGGTCTCACTATGTTGTCCAGTCTGGTCTCAAGCTCCTGGCTTCGAGTGATCCTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGT... | pathogenic | 250,310 |
Located at chromosome 16 position 28482308, the variant affecting gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | TCCAGTCTGGTCTCAAGCTCCTGGCTTCGAGTGATCCTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTT... | TCCAGTCTGGTCTCAAGCTCCTGGCTTCGAGTGATCCTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTT... | pathogenic | 250,318 |
Is the genetic mutation found on chromosome 16 at position 28482344, within the gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTG... | CTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTG... | pathogenic | 250,320 |
Evaluate if the mutation on chromosome 16 at position 28482344 in CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTG... | CTCCCACCCTAGCCTCCAAAAGCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTG... | pathogenic | 250,321 |
Assess the variant on chromosome 16, position 28482365, impacting CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cone-rod_dystrophy', 'Neuronal_ceroid_lipofuscinosis_3'] | GCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGA... | GCATTGGGATTACAGGTGTGAGCCACAACACCTAGCCTAAAGTATAATCTCTATTTCTGTATTTTGCTATCACAGAATTGAGTTCCTAAGTCTTTTTTTTTGGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGA... | pathogenic | 250,322 |
The mutation in gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) at chromosome 16, position 28482645—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis_3'] | CACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCAC... | CACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCAC... | pathogenic | 250,330 |
Mutation at chromosome 16, position 28484004, within CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGG... | CAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGG... | pathogenic | 250,335 |
Is the chromosome 16, position 28484066 variant in CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | TGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTG... | TGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTG... | pathogenic | 250,341 |
Variant chromosome 16, position 28486384, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): benign or pathogenic? Disease(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | ATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCT... | ATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCT... | pathogenic | 250,347 |
Considering the genetic mutation at chromosome 16, position 28486401, impacting CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | TTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCT... | TTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCT... | pathogenic | 250,349 |
Is the genetic variant on chromosome 16, position 28486454, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | TGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCT... | TGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCT... | pathogenic | 250,354 |
Classify the chromosome 16 variant at position 28486464 affecting gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | ATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGCTCCCA... | ATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCGCTATGTTGCCCAGGCTGGTCTCAAATTTCTAGCCTCTAGTGGTCCTCCAGCCTCAGCCTCCTAAAGCACTGGGATTACAGCTGTGAGCCACTGTGCTCAGCAGGCCCTTGTTCGGACTGCTGGCTCATACCTAGCGAGTCAGTTCTGTTTTCTGGCCATTATTATTCTAATGGTCGCTCTAGCTCCCA... | pathogenic | 250,357 |
Evaluate this variant at chromosome 16, position 28487491, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTAGAGCCCGGGAGGCCGAGGCTGCAGTGAGCTGAGATCACACCAGTCACTGCACTCCAGCCTGAGTGACACCATGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGTCGCCATGGTTCAGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCAC... | CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTAGAGCCCGGGAGGCCGAGGCTGCAGTGAGCTGAGATCACACCAGTCACTGCACTCCAGCCTGAGTGACACCATGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGTCGCCATGGTTCAGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCAC... | pathogenic | 250,371 |
Does the genetic variant at chromosome 16, position 28487544, impacting gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGGCCGAGGCTGCAGTGAGCTGAGATCACACCAGTCACTGCACTCCAGCCTGAGTGACACCATGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGTCGCCATGGTTCAGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGC... | AGGCCGAGGCTGCAGTGAGCTGAGATCACACCAGTCACTGCACTCCAGCCTGAGTGACACCATGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAGTCGCCATGGTTCAGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGC... | benign | 250,373 |
Does the chromosome 16 mutation at position 28487665 within gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | AGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGCCATTTGAGATATGGGGAAACTGAGGGTTCAGAGAGGTGGAGTAACTTGTTCAACGCTACAAAGCTAAAAAGTGGCAGCTCCAGGACTCACACCTGGGGCTATCAGAGTCCAGATTCCGCCT... | AGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGCCATTTGAGATATGGGGAAACTGAGGGTTCAGAGAGGTGGAGTAACTTGTTCAACGCTACAAAGCTAAAAAGTGGCAGCTCCAGGACTCACACCTGGGGCTATCAGAGTCCAGATTCCGCCT... | pathogenic | 250,374 |
Classify the chromosome 16 variant at position 28487665 affecting gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa'] | AGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGCCATTTGAGATATGGGGAAACTGAGGGTTCAGAGAGGTGGAGTAACTTGTTCAACGCTACAAAGCTAAAAAGTGGCAGCTCCAGGACTCACACCTGGGGCTATCAGAGTCCAGATTCCGCCT... | AGGCCTGTTGCCCTGGCACTCAGGCAGGCAAGGCTACACATTCGAGGCCAACCTGGTCAACACTGATTAAAAAAAAAAAAAAAAAAAAAAGGAACTAATCAAATAAAGTCCACCCTCATCCTACTTCTAATCACCTTGGGAACCACACTGTGCTGAATGCATTACCCTCATCACCTCCAAGGAAAGCAAGAACAACTGCCATTTGAGATATGGGGAAACTGAGGGTTCAGAGAGGTGGAGTAACTTGTTCAACGCTACAAAGCTAAAAAGTGGCAGCTCCAGGACTCACACCTGGGGCTATCAGAGTCCAGATTCCGCCT... | pathogenic | 250,375 |
Benign or pathogenic: chromosome 16, position 28488644, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) variant? Disease(s) if pathogenic? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | AGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTT... | AGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTT... | pathogenic | 250,391 |
Gene mutation in CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) at chromosome 16, position 28488651—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | GGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTC... | GGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTC... | pathogenic | 250,393 |
Mutation at chromosome 16, position 28489275, within CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTTTGTTCACCTCAATCTCCATCTAATTCATCCATTTTCTCCCATCTCCTCCACTGCCTACCCCTCCAAATTGTCCCAGTCTCCCATCGCCTACTGCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAG... | CTTTGTTCACCTCAATCTCCATCTAATTCATCCATTTTCTCCCATCTCCTCCACTGCCTACCCCTCCAAATTGTCCCAGTCTCCCATCGCCTACTGCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAG... | benign | 250,395 |
Considering the variant on chromosome 16, location 28489316, involving gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | CCATCTCCTCCACTGCCTACCCCTCCAAATTGTCCCAGTCTCCCATCGCCTACTGCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAGGGGGTGAGAAGGGAAGGGAGGGGGAAGGTCGGTCTCTACTC... | CCATCTCCTCCACTGCCTACCCCTCCAAATTGTCCCAGTCTCCCATCGCCTACTGCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAGGGGGTGAGAAGGGAAGGGAGGGGGAAGGTCGGTCTCTACTC... | pathogenic | 250,398 |
Is chromosome 16, position 28489370, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | GCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAGGGGGTGAGAAGGGAAGGGAGGGGGAAGGTCGGTCTCTACTCTCAGCATCTCAGCCATCCCAGCCTCCCCTTTCTCAGCTCCTGCCCACCCTGCCT... | GCTGATAGCCCTAGCAGGCTTCTAAGGGTGACAGAATGAATCCCTTTCCTCTGGGAGGCTGGGGAGACTCTTCCCACAAATGCTCTGATGTGGTTCCTCGGGGCTCCCCATCTGACACAGAACCACACACTCACCACACAGGCTGGTCCCCACAGAATGAGAAAAGGCAACCAGGACGAAGCTTCCAGCAGCACAAATCCCACTGACGAGAACCCGGGGGCTGAGGGGGTGAGAAGGGAAGGGAGGGGGAAGGTCGGTCTCTACTCTCAGCATCTCAGCCATCCCAGCCTCCCCTTTCTCAGCTCCTGCCCACCCTGCCT... | pathogenic | 250,402 |
Variant on chromosome 16, at position 28491741, affecting CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_3'] | GTGAACTGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCACAAAAATAAAAAATAAAAAGGAAGAGGCCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGAGGGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAATATGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCTGGGCGAAGTTGCACATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAACCACTTGAACCCGAAAGGCGGAGGTTGCAGTAAGCCGAGATTG... | GTGAACTGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACCCTGTCACAAAAATAAAAAATAAAAAGGAAGAGGCCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGAGGGGCCGAGGCGGGCGGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAATATGGAGAAACCCCGTCTCTACTAAAAAATACAAAATTAGCTGGGCGAAGTTGCACATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAACCACTTGAACCCGAAAGGCGGAGGTTGCAGTAAGCCGAGATTG... | pathogenic | 250,416 |
Chromosome 16, position 28492313, gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAATCCTGTCTTTACTAAAAATACAAAAAATTAGCTGTGTCTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGGAGCTGAGACAGGAGAATAGCTTGAACCTTGGAGGTGGAGGTTTCAGTGAGCCGAGATTGTGCCACTGCTCTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAATAAAATAAAATTAAAAAAAAAAAAAAAAAAAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACGCGGTGAAAC... | AAATCCTGTCTTTACTAAAAATACAAAAAATTAGCTGTGTCTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGGAGCTGAGACAGGAGAATAGCTTGAACCTTGGAGGTGGAGGTTTCAGTGAGCCGAGATTGTGCCACTGCTCTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAATAAAATAAAATTAAAAAAAAAAAAAAAAAAAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACGCGGTGAAAC... | benign | 250,419 |
Evaluate if the mutation on chromosome 16 at position 28902649 in ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | TGTAGTGGGCATGCTGGACCCTCCGCGCAAGGAGGTCACGGGCTCCATCCAGCTGTGCCGTGACGCCGGGATCCGGGTGATCATGATCACTGGGGACAACAAGGGCACAGCCATTGCCATCTGCCGGCGAATTGGCATCTTTGGGGAGAACGAGGAGGTGGCCGATCGCGCCTACACGGGCCGAGAGTTCGACGACCTGCCCCTGGCTGAACAGCGGGAAGCCTGCCGACGTGCCTGCTGCTTCGCCCGTGTGGAGCCCTCGCACAAGTCCAAGATTGTGGAGTACCTGCAGTCCTACGATGAGATCACAGCCATGGTGA... | TGTAGTGGGCATGCTGGACCCTCCGCGCAAGGAGGTCACGGGCTCCATCCAGCTGTGCCGTGACGCCGGGATCCGGGTGATCATGATCACTGGGGACAACAAGGGCACAGCCATTGCCATCTGCCGGCGAATTGGCATCTTTGGGGAGAACGAGGAGGTGGCCGATCGCGCCTACACGGGCCGAGAGTTCGACGACCTGCCCCTGGCTGAACAGCGGGAAGCCTGCCGACGTGCCTGCTGCTTCGCCCGTGTGGAGCCCTCGCACAAGTCCAAGATTGTGGAGTACCTGCAGTCCTACGATGAGATCACAGCCATGGTGA... | pathogenic | 250,513 |
Variant in gene ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1), located at chromosome 16 position 28903058: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | GTAAGATGCAAGAAGGGTGGGGATTCAGACCCCAAGGAAGAGTCTGAAGGAGGATTTGTGGGCTGGGCCTGGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAACAAAACTTTAAAAATAAATTTAGCCTCACAGTGGCACATATTTGTGGTCCTAGCTACTTGGGAGCCTGAGGTGGATCACTTGAGCACAGTTTGAGGGTGCAGAAAGTTATGACTGCACCACTGCACTTCAGCCTGGGCAATAGAGTGAGACCCTGTCTCA... | GTAAGATGCAAGAAGGGTGGGGATTCAGACCCCAAGGAAGAGTCTGAAGGAGGATTTGTGGGCTGGGCCTGGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAACAAAACTTTAAAAATAAATTTAGCCTCACAGTGGCACATATTTGTGGTCCTAGCTACTTGGGAGCCTGAGGTGGATCACTTGAGCACAGTTTGAGGGTGCAGAAAGTTATGACTGCACCACTGCACTTCAGCCTGGGCAATAGAGTGAGACCCTGTCTCA... | pathogenic | 250,522 |
Is the genetic change at chromosome 16, position 29796877, within gene KIF22 (kinesin family member 22) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GCCTCCCAAAGCGCTGGGATTACAGGCATGAACCACTGCGCCCGGCCAAATTCTCAAAAAGCCCAAGGCCCACCCCCAACCTTATTTTACAGACAAGGAAACCAAGGTCCAAGGTCACAAGCTAATAAATGTCAGAGCTGGAATTGAAGTCCACTTCTGTCTGACCAGAGTCTACACTCTACCTCATTACTGACTTCCCCTTCCCCTTAGATTGATCACTGCGCTTCCTTAAGTGCTTCTACATCTGCCATCTTTCTGTTCTCCCAAAACATCCTGTGAAAGCAGGCAGAGGAAGGTCCTGCACATATTTTTGACAAGTC... | GCCTCCCAAAGCGCTGGGATTACAGGCATGAACCACTGCGCCCGGCCAAATTCTCAAAAAGCCCAAGGCCCACCCCCAACCTTATTTTACAGACAAGGAAACCAAGGTCCAAGGTCACAAGCTAATAAATGTCAGAGCTGGAATTGAAGTCCACTTCTGTCTGACCAGAGTCTACACTCTACCTCATTACTGACTTCCCCTTCCCCTTAGATTGATCACTGCGCTTCCTTAAGTGCTTCTACATCTGCCATCTTTCTGTTCTCCCAAAACATCCTGTGAAAGCAGGCAGAGGAAGGTCCTGCACATATTTTTGACAAGTC... | benign | 250,570 |
Assess the variant on chromosome 16, position 29798352, impacting KIF22 (kinesin family member 22): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAGAAAATTCTGGCAGTTCGCTCTCTGGTTTAGGTTTCGGTCAGATGTCAACCCTTTTAATCCTTAGAACAACCCTGTGAGGTGCTGGTCTACTTCACCCTTGGCAATTCAAAACATGTCCTGGGCCAGGCATGGTGGCTCCTGCCTATAATTCCAGCACTTTGGGAGGCTGAGGTAGGAGGATCGCTGGAGCCCAGGAGTTGAAGACAAGCCTGGGTAACCTAGTGAGACTCCATCCCTCTCTCTCTCTTTTTTTTTTTTAAGTGCCCAGCATCACCTGGGAGCTTGTTAGAAATGCAAAATCTCGGGCATCACCCCAG... | CAGAAAATTCTGGCAGTTCGCTCTCTGGTTTAGGTTTCGGTCAGATGTCAACCCTTTTAATCCTTAGAACAACCCTGTGAGGTGCTGGTCTACTTCACCCTTGGCAATTCAAAACATGTCCTGGGCCAGGCATGGTGGCTCCTGCCTATAATTCCAGCACTTTGGGAGGCTGAGGTAGGAGGATCGCTGGAGCCCAGGAGTTGAAGACAAGCCTGGGTAACCTAGTGAGACTCCATCCCTCTCTCTCTCTTTTTTTTTTTTAAGTGCCCAGCATCACCTGGGAGCTTGTTAGAAATGCAAAATCTCGGGCATCACCCCAG... | benign | 250,572 |
Is the chromosome 16, position 29805249 variant in KIF22 (kinesin family member 22) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ATTGAGGACTGTGCTTGAAAAGCCTTTCCCTTCAATATTTGCAGAGGCTTGTTCCACCTCTGGGTAGCCCCCTAATCACAGAAAGCCCTTAATTATGTTAGGCTCCACCTGTCTCCTGGTAACCTCCCACTGGTCCTAGCCCTGCCCTCTGGGGGCTCAGAGCCTTGCATACTCACCCTGGTAACCCACTCCCTTCAGGCTGCCCTGGAGTTGGGTCTGGATCACATCTCCCTGATCCTTTCCAACAGAGGCTTAAGACGAAGCAAAAAGAACTGGAGGCCAAGATGTTGGCCCAGAAGGCTGAGGAAAAGGAGAACCAT... | ATTGAGGACTGTGCTTGAAAAGCCTTTCCCTTCAATATTTGCAGAGGCTTGTTCCACCTCTGGGTAGCCCCCTAATCACAGAAAGCCCTTAATTATGTTAGGCTCCACCTGTCTCCTGGTAACCTCCCACTGGTCCTAGCCCTGCCCTCTGGGGGCTCAGAGCCTTGCATACTCACCCTGGTAACCCACTCCCTTCAGGCTGCCCTGGAGTTGGGTCTGGATCACATCTCCCTGATCCTTTCCAACAGAGGCTTAAGACGAAGCAAAAAGAACTGGAGGCCAAGATGTTGGCCCAGAAGGCTGAGGAAAAGGAGAACCAT... | benign | 250,589 |
A mutation at chromosome position 29813080 on chromosome 16 in gene PRRT2: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | CCCTCTTCCCCACGACAGAAGAAGTTGTGGCCCTGGCCATGTCATCGTGTTCCTGTGTCCCCTGCATGTACCCCACCCTCCACCCCTTCCTTTTGCGCGGACCCCATTACAATAAATTTTAAATAAAATCCTGTTTCTGGCTCTGGATTGAATGAATTGCCCTCACTAAGAACTGCCGCCAACCCCAAGGGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGT... | CCCTCTTCCCCACGACAGAAGAAGTTGTGGCCCTGGCCATGTCATCGTGTTCCTGTGTCCCCTGCATGTACCCCACCCTCCACCCCTTCCTTTTGCGCGGACCCCATTACAATAAATTTTAAATAAAATCCTGTTTCTGGCTCTGGATTGAATGAATTGCCCTCACTAAGAACTGCCGCCAACCCCAAGGGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGT... | pathogenic | 250,592 |
Regarding the variant found on chromosome 16 at position 29813262 in gene PRRT2: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | CCCCAAGGGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGC... | CCCCAAGGGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGC... | pathogenic | 250,598 |
Is chromosome 16, position 29813269, gene PRRT2 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | GGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCAC... | GGTTTCTTCTCGGCCTGGTGTCCGTCAATCCAGCCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCAC... | pathogenic | 250,599 |
Does the variant impacting PRRT2 on chromosome 16, position 29813302, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Seizures,_benign_familial_infantile,_2'] | CCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGC... | CCTTGCTCTGCCCTGTGAGGCTGTGAGGTTCTGGCTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGC... | pathogenic | 250,601 |
Assess the variant on chromosome 16, position 29813336, impacting PRRT2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Inborn_genetic_diseases'] | CTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGG... | CTCCGCCCTCCCCAGGGGCAGCCTTACTGGCGGCAGCACAGATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGG... | pathogenic | 250,603 |
Clinically, how would you classify the variant at chromosome 16, position 29813377, gene PRRT2: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1'] | ATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATC... | ATACAGGGCGGGGCCAAGGCTGTGGCTGTGGAGAGCAAGTTCCAGGTCTCTGGGGAATTCCCAACTCGGACAGGCCCAGAATAGCCCCTGGAGGTTTGAAGAGGCCCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATC... | pathogenic | 250,607 |
Regarding the variant at chromosome 16 and position 29813482, affecting gene PRRT2: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | CCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTT... | CCCGTCAGAAACCCAAACAGAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTT... | pathogenic | 250,611 |
Considering the genetic mutation at chromosome 16, position 29813501, impacting PRRT2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | GAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCA... | GAGCTGCCAGACGGGAATGCCGCCCTCCCCCGTCCACACTCATGGCCGCTGCTCAGCCCCCAGCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCA... | pathogenic | 250,614 |
Benign or pathogenic: chromosome 16, position 29813563, gene PRRT2 variant? Disease(s) if pathogenic? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1'] | GCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGC... | GCCGCATCCCTCCCCACGCGCGTCACGGCCCTGAGGCCATGGTGGGTGGATGCGGCTGCGGAAAGGCTGGGGAGTCCGAGCCCTAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGC... | pathogenic | 250,617 |
Mutation found at chromosome 16 position 29813646, gene PRRT2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | TAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCC... | TAGGACTGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCC... | pathogenic | 250,623 |
Evaluate the clinical significance of the mutation at chromosome 16, position 29813652 in gene PRRT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Inborn_genetic_diseases'] | TGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTC... | TGGGAGCAGCGAGGTAGAGAATGAAAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTC... | pathogenic | 250,625 |
Variant at chromosome 16, position 29813676, gene PRRT2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1', 'Infantile_convulsions_and_choreoathetosis'] | AAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCC... | AAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCC... | pathogenic | 250,627 |
Is the genetic variant on chromosome 16, position 29813676, gene PRRT2, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Episodic_kinesigenic_dyskinesia_1', 'Seizures,_benign_familial_infantile,_2'] | AAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCC... | AAGCTGCACCTGTCCCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCC... | pathogenic | 250,628 |
Variant on chromosome 16, at position 29813690, affecting PRRT2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia_1', 'PRRT2-related_disorder'] | CCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCT... | CCTCATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCT... | pathogenic | 250,629 |
Variant at chromosome position 29813694, chromosome 16, gene PRRT2: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Episodic_kinesigenic_dyskinesia_1', 'Infantile_convulsions_and_choreoathetosis', 'Seizures,_benign_familial_infantile,_2'] | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | pathogenic | 250,630 |
Clinical classification of chromosome 16, position 29813694, gene PRRT2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Convulsions', 'Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1', 'Inborn_genetic_diseases', 'Infantile_convulsions_and_choreoathetosis', 'Neurodevelopmental_delay', 'PRRT2-Associated_Paroxysmal_Movement_Disorders', 'PRRT2-related_disorder', 'PRRT2_insufficiency', 'Paroxysmal_nonkinesi... | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | pathogenic | 250,631 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 29813694, gene PRRT2. What disease(s) is it linked to if pathogenic? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1', 'Inborn_genetic_diseases', 'Infantile_convulsions_and_choreoathetosis', 'PRRT2-associated_paroxysmal_movement_disorder', 'PRRT2-related_disorder', 'Seizures,_benign_familial_infantile,_2'] | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | ATCCTGGGCATGGGCCACTCTGTGTTTACACGGGCTCCTCTGCCCAGCTCCTCCTGCCCCTTGGAATTCCCTTTCCTGTCCCCGCTCCGTCCTTTCCAGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTC... | pathogenic | 250,632 |
The chromosome 16, position 29813791 genetic variant in gene PRRT2: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1'] | AGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCG... | AGGGCCCCTTTTTTGAGCCTTCCAGCGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCG... | pathogenic | 250,642 |
Chromosome 16, position 29813816, gene PRRT2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | CGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGG... | CGCCAGTTTCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGG... | pathogenic | 250,645 |
Variant chromosome 16, position 29813824, gene PRRT2: benign or pathogenic? Disease(s)? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Seizure'] | TCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGGGTAACGCG... | TCTGCCGCTCCTTTCTGCAGGCTCCATTCTCTCCAAACCCCACCCTGCTCCTCCTCTGCAGCCTCCCCGCGTCTTGCCCCATCTTCCTTGCCCTCCTGCTCGTAGAGACGCCTCCACCCGGTCCTGCCTGTCTCACTGGTCCCGTCTCCTCGCAGAACCCTCTCCGTTTCCCCCAAATCCCCGTCTCTTCCAGGAATCCCGGTGACCGTTGGCGGGAGGGGCCGGGGACTTAAGAAGGAGGCGTCTCTCCTGGAGGCGCGCGTGAGAAGGGGCAGGGAGGGGGCGCGAGTGGTCCCCGGGCCGGTTGCCTGGGTAACGCG... | pathogenic | 250,646 |
The mutation impacting PRRT2 on chromosome 16 at position 29814364: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Episodic_kinesigenic_dyskinesia'] | GCGTCGAGGTGAGACCCGGGCAGACTGAGGCTGCGGGTAGGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAAT... | GCGTCGAGGTGAGACCCGGGCAGACTGAGGCTGCGGGTAGGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAAT... | pathogenic | 250,656 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 29814373, gene PRRT2: what disease(s) if pathogenic? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Inborn_genetic_diseases'] | TGAGACCCGGGCAGACTGAGGCTGCGGGTAGGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCC... | TGAGACCCGGGCAGACTGAGGCTGCGGGTAGGAGTGGACCGACCGACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCC... | pathogenic | 250,658 |
Benign or pathogenic: chromosome 16, position 29814418, gene PRRT2 variant? Disease(s) if pathogenic? | pathogenic; ['Episodic_kinesigenic_dyskinesia', 'Episodic_kinesigenic_dyskinesia_1', 'PRRT2-related_disorder', 'Seizures,_benign_familial_infantile,_2'] | ACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGA... | ACGGCTGACGCCGGGCGGACTGCACGGGAATGCGGGTGTCTGGAGGGCTGGTGGTGGTGCTGGGCGGGCTGAACCATCGGGAGGAGGCGCCAGCCCACCGAAGGCGAGGGAAGCCCCGGGAGAGGGGCTGACAGGGGATCGAAGGAGATAACCAGGTCCCCCAGAAAGGGGCGGGAGCGTCCTCGCCCTAAACGCGCAGCAAGAAAACCCGCACCGCCTGGGAGCCCAGGGAGGAGGGGAGGATGCAGAGGGAGTGGAATGCGAATGTCGGGTCCTCTGCCCAGTCGGCCTGTCGGAGTGCTATTTGCACAGCTCGTTGA... | pathogenic | 250,661 |
The mutation impacting TBX6 (T-box transcription factor 6) on chromosome 16 at position 30086589: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Spondylocostal_dysostosis_5'] | ATGCTCTGGTCCCACGGGCCTCTGGTGGACTTGGGGAGGGGCCAGGCTGCTCACCCTCAAGGGGCAGCGCTGGCAGCCAGAGAAGCCTGAGGACATCCCTCTCCATCCCTCCCTTTCCGCATCAGACACCACAGGCTGGGGCGTGAGCCCCCGAGGAGCCGGCTACCTATTTGGCAGTGACGTGGTGGCCCAGTTCAACGCAGCCAATGACATTGACATGATCTGCCGTGCCCACCAACTGGTGATGGAAGGTTACAAGTGGCACTTCAATGAGACGGTGCTCACTGTGTGGTCGGCACCCAACTACTGCTACCGGTGAG... | ATGCTCTGGTCCCACGGGCCTCTGGTGGACTTGGGGAGGGGCCAGGCTGCTCACCCTCAAGGGGCAGCGCTGGCAGCCAGAGAAGCCTGAGGACATCCCTCTCCATCCCTCCCTTTCCGCATCAGACACCACAGGCTGGGGCGTGAGCCCCCGAGGAGCCGGCTACCTATTTGGCAGTGACGTGGTGGCCCAGTTCAACGCAGCCAATGACATTGACATGATCTGCCGTGCCCACCAACTGGTGATGGAAGGTTACAAGTGGCACTTCAATGAGACGGTGCTCACTGTGTGGTCGGCACCCAACTACTGCTACCGGTGAG... | pathogenic | 250,741 |
Does the variant on chromosome 16 at location 30086868 affecting gene TBX6 (T-box transcription factor 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GCTCACTGTGTGGTCGGCACCCAACTACTGCTACCGGTGAGCCGGCTGGGCCGGGCTGGGATGGGCGGGCATCTGAGCCGAGCTGCTCCTGACCCTGCTGCCCCGCCTTCCAGCTGTGGGAATGTGGCAGCCATCTTGGAGCTGGACGAGCATCTCCAGAAAGATTTCATCATCTTTGAGGCTGCTCCCCAAGAGACACGGGGCATCCCCTCCAAGAAGCCCGTGGCCGACTACTTCCTGTGACCCCGCCCGGCCCCTGCCCCCTCCAACCCTTCTGGCCCTCGCACCACTGTGACTCTGCCATCTTCCTCAGACGGAGG... | GCTCACTGTGTGGTCGGCACCCAACTACTGCTACCGGTGAGCCGGCTGGGCCGGGCTGGGATGGGCGGGCATCTGAGCCGAGCTGCTCCTGACCCTGCTGCCCCGCCTTCCAGCTGTGGGAATGTGGCAGCCATCTTGGAGCTGGACGAGCATCTCCAGAAAGATTTCATCATCTTTGAGGCTGCTCCCCAAGAGACACGGGGCATCCCCTCCAAGAAGCCCGTGGCCGACTACTTCCTGTGACCCCGCCCGGCCCCTGCCCCCTCCAACCCTTCTGGCCCTCGCACCACTGTGACTCTGCCATCTTCCTCAGACGGAGG... | benign | 250,744 |
Variant at chromosome 16, position 30089193, gene TBX6 (T-box transcription factor 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['TBX6-related_disorder'] | TTCTGCCCCATCTCCACTCTCAGCCTCTCTCTGGAATCCTCTTCTGTCCCCTCTTCACGGGCTGAACCTGTCCTTTTTCTTTTCATTTTTAAAATTTGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCACAGGTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCTTTCCATCTCAGCCTCCGAAAGTGCTGGGACTACAGGCATGAGCCACCAAACCTATCCTTGCCTCACTGCAAGCGCAAGTTCCTCAAGGAAGTCCTCCCTGACCTCCGAGAGCACACACCCCTCCCT... | TTCTGCCCCATCTCCACTCTCAGCCTCTCTCTGGAATCCTCTTCTGTCCCCTCTTCACGGGCTGAACCTGTCCTTTTTCTTTTCATTTTTAAAATTTGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCACAGGTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCTTTCCATCTCAGCCTCCGAAAGTGCTGGGACTACAGGCATGAGCCACCAAACCTATCCTTGCCTCACTGCAAGCGCAAGTTCCTCAAGGAAGTCCTCCCTGACCTCCGAGAGCACACACCCCTCCCT... | pathogenic | 250,748 |
The chromosome 16, position 30725021 genetic variant in gene SRCAP (Snf2 related CREBBP activator protein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CATGGTGAATAATACAGGCGTGGTGAAGATTGTAGTGAGACAAGCCCCTCGGGATGGACTGACTCCTGTTCCTCCATTGGCCCCAGCACCCCGGCCTCCGAGCTCTGGGCTTCCAGCTGTGTTGAATCCACGCCCCACGTTAACCCCTGGCCGGCTACCCACACCTACTCTGGGTACTGCTCGAGCCCCCATGCCCACACCCACTCTGGTGAGGCCTCTTCTCAAGCTGGTCCACAGTCCTTCACCTGAAGTCAGTGGTGAGTCCAGGTGGCTGAGGCCAGAAATCCTTGCCAGGAATGGAGACGAGATGGGGTCGCCTC... | CATGGTGAATAATACAGGCGTGGTGAAGATTGTAGTGAGACAAGCCCCTCGGGATGGACTGACTCCTGTTCCTCCATTGGCCCCAGCACCCCGGCCTCCGAGCTCTGGGCTTCCAGCTGTGTTGAATCCACGCCCCACGTTAACCCCTGGCCGGCTACCCACACCTACTCTGGGTACTGCTCGAGCCCCCATGCCCACACCCACTCTGGTGAGGCCTCTTCTCAAGCTGGTCCACAGTCCTTCACCTGAAGTCAGTGGTGAGTCCAGGTGGCTGAGGCCAGAAATCCTTGCCAGGAATGGAGACGAGATGGGGTCGCCTC... | benign | 250,860 |
Variant chromosome 16, position 30725049, gene SRCAP (Snf2 related CREBBP activator protein): benign or pathogenic? Disease(s)? | pathogenic; ['Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities', 'Floating-Harbor_syndrome', 'Neurodevelopmental_disorder', 'SRCAP-related_disorder'] | ATTGTAGTGAGACAAGCCCCTCGGGATGGACTGACTCCTGTTCCTCCATTGGCCCCAGCACCCCGGCCTCCGAGCTCTGGGCTTCCAGCTGTGTTGAATCCACGCCCCACGTTAACCCCTGGCCGGCTACCCACACCTACTCTGGGTACTGCTCGAGCCCCCATGCCCACACCCACTCTGGTGAGGCCTCTTCTCAAGCTGGTCCACAGTCCTTCACCTGAAGTCAGTGGTGAGTCCAGGTGGCTGAGGCCAGAAATCCTTGCCAGGAATGGAGACGAGATGGGGTCGCCTCAAGGTTTCTTAGTTTTAGTACAGGTTTT... | ATTGTAGTGAGACAAGCCCCTCGGGATGGACTGACTCCTGTTCCTCCATTGGCCCCAGCACCCCGGCCTCCGAGCTCTGGGCTTCCAGCTGTGTTGAATCCACGCCCCACGTTAACCCCTGGCCGGCTACCCACACCTACTCTGGGTACTGCTCGAGCCCCCATGCCCACACCCACTCTGGTGAGGCCTCTTCTCAAGCTGGTCCACAGTCCTTCACCTGAAGTCAGTGGTGAGTCCAGGTGGCTGAGGCCAGAAATCCTTGCCAGGAATGGAGACGAGATGGGGTCGCCTCAAGGTTTCTTAGTTTTAGTACAGGTTTT... | pathogenic | 250,861 |
The mutation impacting SRCAP (Snf2 related CREBBP activator protein) on chromosome 16 at position 30737414: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAAAGCATTTCTTATATCCACCTCACCATCTAATCCTCAAAATTATTTCCTTTTCATTAGTATTTCCACTTAAGAGAAGTGTTTAAGTTGGTGCAAAAATAATTGCAGTTTTTGACATTACTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCACGGAGTCTTGCTCTTTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCCTCCACCTCCCGGGTTCAAGTGA... | TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAAAGCATTTCTTATATCCACCTCACCATCTAATCCTCAAAATTATTTCCTTTTCATTAGTATTTCCACTTAAGAGAAGTGTTTAAGTTGGTGCAAAAATAATTGCAGTTTTTGACATTACTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCACGGAGTCTTGCTCTTTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTACAGCCTCCACCTCCCGGGTTCAAGTGA... | pathogenic | 250,885 |
Gene mutation in SRCAP (Snf2 related CREBBP activator protein) at chromosome 16, position 30739012—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCGCCTGACCTGGAAGCTGCTAATTTCTACTCACTCTCTACTCTGCTTGCCTCCTCCTGACCACTTTTGGACCCTGTTGTTGTAGGAGCAAGTGGAAGCTGCCCGCAAAGACCTGGACCAAGCCAAGGAGGAGGTGTTCCGCCTACCCCAAGAGGAGGAGGAGGGGCCGGGGGCTGGGGATGAGAGTTCCTGTGGGACTGGTGGAGGCACCCACCGGCGCAGTAAAAAGGCCAAAGCCCCTGAGAGGCCGGGGACTCGTGTCAGTGAGCGTCTTCGTGGAGCCCGGGCTGAGACTCAAGGGGCAAACCACACTCCTGTCA... | GCGCCTGACCTGGAAGCTGCTAATTTCTACTCACTCTCTACTCTGCTTGCCTCCTCCTGACCACTTTTGGACCCTGTTGTTGTAGGAGCAAGTGGAAGCTGCCCGCAAAGACCTGGACCAAGCCAAGGAGGAGGTGTTCCGCCTACCCCAAGAGGAGGAGGAGGGGCCGGGGGCTGGGGATGAGAGTTCCTGTGGGACTGGTGGAGGCACCCACCGGCGCAGTAAAAAGGCCAAAGCCCCTGAGAGGCCGGGGACTCGTGTCAGTGAGCGTCTTCGTGGAGCCCGGGCTGAGACTCAAGGGGCAAACCACACTCCTGTCA... | benign | 250,919 |
Variant in gene PHKG2 (phosphorylase kinase catalytic subunit gamma 2), located at chromosome 16 position 30753236: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease_IXc'] | GAGCGGCTGAGTCCTGAGCAGCTGGAGGAGGTGCGGGAAGCCACACGGCGAGAGACACACATCCTTCGCCAGGTCGCCGGCCACCCCCACATCAGTGAGGCTGTCTTCCTTGCTCCTGTTAGCAGACGACCCCCCACCTCCTGCTGGCCCTGCCCATAGCCCACTTCCGCCAACATTGCCTCCACACCTCTCCTCCCTTCATTCCACTAAAGAGTGGCCATCCGTTGGGCGCCCACTGCCTCCTCTGGTTCTCCTTTCTTCCCAGTAACAGCCCGCTGCTGTCCCAGGGTGGCCAAGCCCCGTTAATGTGCATCCACTCC... | GAGCGGCTGAGTCCTGAGCAGCTGGAGGAGGTGCGGGAAGCCACACGGCGAGAGACACACATCCTTCGCCAGGTCGCCGGCCACCCCCACATCAGTGAGGCTGTCTTCCTTGCTCCTGTTAGCAGACGACCCCCCACCTCCTGCTGGCCCTGCCCATAGCCCACTTCCGCCAACATTGCCTCCACACCTCTCCTCCCTTCATTCCACTAAAGAGTGGCCATCCGTTGGGCGCCCACTGCCTCCTCTGGTTCTCCTTTCTTCCCAGTAACAGCCCGCTGCTGTCCCAGGGTGGCCAAGCCCCGTTAATGTGCATCCACTCC... | pathogenic | 250,951 |
Chromosome 16, position 30756390, gene PHKG2 (phosphorylase kinase catalytic subunit gamma 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease_IXc', 'Inborn_genetic_diseases'] | TTTTAGTAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTGTCGGCACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTG... | TTTTAGTAGAGATGGAATTTCACAATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCTGTCCCAGCCTCCAGAAGTGCTGGGATTACAGGTGTGAGCACTGTGCCTTGTCGGCACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTG... | pathogenic | 250,957 |
Does the chromosome 16 mutation at position 30756516 within gene PHKG2 (phosphorylase kinase catalytic subunit gamma 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glycogen_storage_disease_IXc'] | ACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTGGATGTTGTACTTTAAAACCCTTTGGCTTCCACATGTACTTTTCCCGTTTGTGGAATCATCTTTGCCTCTGCCCACTGCATCCTCTCCTTGGCTTGGGTAATTCAGGCTTCACTTTAAACCTCCAGG... | ACCAGTCTTTATATGGCTTATTCCCCTAAATCCTCTCCACAGCCCTGTGTGACAGACAGTATTTGTGTCTCTTTTTTTATAGATTGGCTCAAAGAGGTGAGATGACTGCTCTAGGGTCCTAATGCTAGGATTTGAACTTGGACAGTCTGACTCCAGAGTTAATACTCTTAACCTGTGGACCCACATGTCTGGTGGATGTTGTACTTTAAAACCCTTTGGCTTCCACATGTACTTTTCCCGTTTGTGGAATCATCTTTGCCTCTGCCCACTGCATCCTCTCCTTGGCTTGGGTAATTCAGGCTTCACTTTAAACCTCCAGG... | pathogenic | 250,958 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 30979875, gene SETD1A (SET domain containing 1A, histone lysine methyltransferase): what disease(s) if pathogenic? | benign | CCTGTTGGCGCTGAGCGGGGAAGCCAGTTGTGAAGCCAGTGAGTCCGTGGGCTGCAGTTCAGAGCATGAGCTCAACCCACATGGCCTGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCAT... | CCTGTTGGCGCTGAGCGGGGAAGCCAGTTGTGAAGCCAGTGAGTCCGTGGGCTGCAGTTCAGAGCATGAGCTCAACCCACATGGCCTGGGAGCAGAGCTTGTTCTGTCATCTGGTAACTGACCACATCTCTGTGCCTCAGTTTTCCTGTCTGTAAGATAGGACCCTCTGCTGGGTACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGCTTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCAT... | benign | 250,998 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 31184190, gene FUS (FUS RNA binding protein). What disease(s) is it linked to if pathogenic? | benign | ACCATGCCCGGCTAATTTTTTGTATTTTTATTAGAGATGGGGCTTCACCATGTTGGTCAGGCCAGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAACTGCTGGGATTACAGGCATGATCCACCGTGCCTGGCCTACGTGGTCCTTTTTATTCATCAGTGCTTGAGTTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGC... | ACCATGCCCGGCTAATTTTTTGTATTTTTATTAGAGATGGGGCTTCACCATGTTGGTCAGGCCAGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAACTGCTGGGATTACAGGCATGATCCACCGTGCCTGGCCTACGTGGTCCTTTTTATTCATCAGTGCTTGAGTTAAGGAATTTAGCTTTAATTCAACTCTTTCAGAGTGGCAGCTGAAGATAATGTGATTGTATTTTTCTTTTGCAGATTATACCCAACAAGCAACCCAAAGGTGAGTGCTATTTTTGGGCTTCCAGAGTTTGTAGAGGGC... | benign | 251,094 |
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