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 |
|---|---|---|---|---|---|
A mutation at chromosome position 12718158 on chromosome 12 in gene CDKN1B (cyclin dependent kinase inhibitor 1B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | TCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTA... | TCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTA... | pathogenic | 192,816 |
Gene CDKN1B (cyclin dependent kinase inhibitor 1B) variant at chromosome position 12718164 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | TCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCC... | TCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCC... | pathogenic | 192,817 |
A genetic variant at chromosome 12, position 12718210, affecting gene CDKN1B (cyclin dependent kinase inhibitor 1B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | AAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGC... | AAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGC... | pathogenic | 192,830 |
A genetic variant on chromosome 12, position 12718225, affects the gene CDKN1B (cyclin dependent kinase inhibitor 1B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | AAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGCCAATGTCCATGGCCT... | AAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGCCAATGTCCATGGCCT... | pathogenic | 192,834 |
Classify the chromosome 12 variant at position 12718247 affecting gene CDKN1B (cyclin dependent kinase inhibitor 1B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | AATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGCCAATGTCCATGGCCTTAACTGTGCTTGGGAAGGAAGA... | AATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTATTTGGCGGCTGGACTCAGGTAGAGGAAACTGCTACAATCCCGGGAAAGAACAGAAAAGTAGAAAGGGACGAGTTCCCACACGCAGCCAATGTCCATGGCCTTAACTGTGCTTGGGAAGGAAGA... | pathogenic | 192,839 |
Determine if the mutation at chromosome 12, position 12718819 in gene CDKN1B (cyclin dependent kinase inhibitor 1B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTCTGGGTTAAGGCTGAGCGAACCATTGCCCACTGCCTCCACCAGCCCCCAGCAAAGGCACGCCGGCGGGGGGGCGCCCAGCCCCCCCAGCAAACGCTCCGCGGCCTCCCCCGCAGACCACGAGGTGGGGGCCGCTGGGGAGGGCCGAGCTGGGGGCAGCTCGCCACCCCGGCTCCTAGCGAGCTGCCGGCGACCTTCGCGGTCCTCTGGTCCAGGTCCCGGCTTCCCGGGCGAGGAGCGGGAGGGAGGTCGGGGCTTAGGCGCCGCGGCGAACCCGCCAACGCAGCGCCGGGCCCCGAACCTCAGGCCCCGCCCCAGGT... | TTCTGGGTTAAGGCTGAGCGAACCATTGCCCACTGCCTCCACCAGCCCCCAGCAAAGGCACGCCGGCGGGGGGGCGCCCAGCCCCCCCAGCAAACGCTCCGCGGCCTCCCCCGCAGACCACGAGGTGGGGGCCGCTGGGGAGGGCCGAGCTGGGGGCAGCTCGCCACCCCGGCTCCTAGCGAGCTGCCGGCGACCTTCGCGGTCCTCTGGTCCAGGTCCCGGCTTCCCGGGCGAGGAGCGGGAGGGAGGTCGGGGCTTAGGCGCCGCGGCGAACCCGCCAACGCAGCGCCGGGCCCCGAACCTCAGGCCCCGCCCCAGGT... | benign | 192,868 |
A mutation at chromosome position 13570026 on chromosome 12 in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTAGAATGCATCTAATTCTAGACAAGCAAAAT... | GGAGAAGACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTAGAATGCATCTAATTCTAGACAAGCAAAAT... | benign | 193,017 |
Classify the chromosome 12 variant at position 13570033 affecting gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTAGAATGCATCTAATTCTAGACAAGCAAAATTCTGAAA... | ACAAGCAGAGAGAGATGGGCAGAGAGATTGATTGATTCCCTAGGGCCCCTCAGATTTACTGATCTCTTGTTGAAGAAAATAAAGAGCAAAGAGGAGTAAGCTTGGATAAAATAAGACCCCCAAATTCAGACTTGCCTTCTTTACACATTGTTTAACGGTGCTTTGATCACTTTAACTCATGTCAGATTTCAATGACCTTTTTCCACTTCACCAGATGCTAGGAAGTAGGAGGAAGTAGGAAGAGGTCCCAGACAAAAGGAAAGTAAAAGAAACCATGTGCCCTAGAATGCATCTAATTCTAGACAAGCAAAATTCTGAAA... | benign | 193,018 |
The chromosome 12, position 13571980 genetic variant in gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTTCAAAGTAAGGTTTAAGTTGGAACTCTGCCAGAATCTAAAGCCTAAATCCCAGGCTGTTCTTTATGTGCTTTTGGGTTGAAAGGAGGAGTTCTTTTCTTCCCACTGGGAATGATGAGAATGTA... | TGCCAATGGTCACCAGCTTGCAGCCTTCATCTCTGCCTGCCATATAGTTCAGCACTGCTGCATCATAGATGAAGGCATCCAGTTTCCTGTACAGGAAAAAAGCAAACAAATCCAATGGAGGAATTTTAGAACAAAACTACCTGTGGGGCCATTAATATGAAGCAGTAGGGTTCCAGAAAACTATGTGGAGAATTGGTTCAAAGTAAGGTTTAAGTTGGAACTCTGCCAGAATCTAAAGCCTAAATCCCAGGCTGTTCTTTATGTGCTTTTGGGTTGAAAGGAGGAGTTCTTTTCTTCCCACTGGGAATGATGAGAATGTA... | benign | 193,033 |
Regarding the variant at chromosome 12 and position 13611772, affecting gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_disability,_autosomal_dominant_6'] | GATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAATATCAGGAAGGCCAAAGGGGAAGTCATAGAATCCTGGCCTGGCTACCTGCATCTAAGGGGAGAAAGGAAGCTGCTTTTGACTTTGATTTCCCCCCACCTAACCTTTGCATAGACAGTGCTTGGGCTTCTGCCCATGTATGTATTGTGACCTCACTGCAATCTCTATTTGCTGATGGTAAAATCTTGCCTGTTGTCTGAATCTCCATGTAGCCCCTCCACTGCAGAAATGAACATCTGCCTGCACAGTTTTAC... | GATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAATATCAGGAAGGCCAAAGGGGAAGTCATAGAATCCTGGCCTGGCTACCTGCATCTAAGGGGAGAAAGGAAGCTGCTTTTGACTTTGATTTCCCCCCACCTAACCTTTGCATAGACAGTGCTTGGGCTTCTGCCCATGTATGTATTGTGACCTCACTGCAATCTCTATTTGCTGATGGTAAAATCTTGCCTGTTGTCTGAATCTCCATGTAGCCCCTCCACTGCAGAAATGAACATCTGCCTGCACAGTTTTAC... | pathogenic | 193,054 |
Is the variant located on chromosome 12 at position 13611861, gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGTCATAGAATCCTGGCCTGGCTACCTGCATCTAAGGGGAGAAAGGAAGCTGCTTTTGACTTTGATTTCCCCCCACCTAACCTTTGCATAGACAGTGCTTGGGCTTCTGCCCATGTATGTATTGTGACCTCACTGCAATCTCTATTTGCTGATGGTAAAATCTTGCCTGTTGTCTGAATCTCCATGTAGCCCCTCCACTGCAGAAATGAACATCTGCCTGCACAGTTTTACAACATATTTGCACAGGTCTTATGATGTAATCTGTGATCCTGATAGCATCTGCTCAGCCAAATAAATCATCAGGGACAACTCATGTTGAA... | AGTCATAGAATCCTGGCCTGGCTACCTGCATCTAAGGGGAGAAAGGAAGCTGCTTTTGACTTTGATTTCCCCCCACCTAACCTTTGCATAGACAGTGCTTGGGCTTCTGCCCATGTATGTATTGTGACCTCACTGCAATCTCTATTTGCTGATGGTAAAATCTTGCCTGTTGTCTGAATCTCCATGTAGCCCCTCCACTGCAGAAATGAACATCTGCCTGCACAGTTTTACAACATATTTGCACAGGTCTTATGATGTAATCTGTGATCCTGATAGCATCTGCTCAGCCAAATAAATCATCAGGGACAACTCATGTTGAA... | benign | 193,062 |
Is the genetic change at chromosome 12, position 13866109, within gene GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability', 'Intellectual_disability,_autosomal_dominant_6'] | TTTCCATTTTGCTTATTTTTCCCACTTCCCTTAGCATGGGCTATTTGTGCTAGTGCCTATTTTCTAACATCTGTACCTGCACCCACGTAAATGGAAGAATATGTTTCTCATATGATACTGGAATGTCTTCACTTAACACTTTTAACTTGACCTTTCCTAGACTGAAGGGAAGCTCTGAAGCAGAAGCTAGTCATCTCTGCCTGCTGCCGACAGGTGGCGGTAACGGTCATGCAAGGTTCCTTTAGTCTCGGCTCAGCTGCTCCACTGCGGAGGTTGTCAACTAGCCAGGCAGCATGCTTGTGGTGTCTGTGCTAGGTTTT... | TTTCCATTTTGCTTATTTTTCCCACTTCCCTTAGCATGGGCTATTTGTGCTAGTGCCTATTTTCTAACATCTGTACCTGCACCCACGTAAATGGAAGAATATGTTTCTCATATGATACTGGAATGTCTTCACTTAACACTTTTAACTTGACCTTTCCTAGACTGAAGGGAAGCTCTGAAGCAGAAGCTAGTCATCTCTGCCTGCTGCCGACAGGTGGCGGTAACGGTCATGCAAGGTTCCTTTAGTCTCGGCTCAGCTGCTCCACTGCGGAGGTTGTCAACTAGCCAGGCAGCATGCTTGTGGTGTCTGTGCTAGGTTTT... | pathogenic | 193,139 |
Considering the genetic mutation at chromosome 12, position 15623289, impacting EPS8 (EGFR pathway substrate 8, signaling adaptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCCCTTCAAGGCTTCTTAAAACAAAGCATGTTGGAATAATGCCAAAAACAATGGAGTTTAAATACAAACAAACAAATTAGTGACTGCTTCCTTCATCAAAAGATTCCACTCCTGAATCACTAGCGGCAGCACTGATTTTTTCCTGTCGTCTTCTCATAATTTCTTGTAACTCGGAGCTGCCACTGCTATCCTGAAAGATAAACAGTTCAGACAAGATAGTTACTGACTTGTGCAGGCTGCAGGTCATATCATGAAATGGCTCAGGATAAAATTCTACTGTGGTTTTCTTCTAGTATCTCTTTAGGAAAGCTAACAGCTCT... | TCCCTTCAAGGCTTCTTAAAACAAAGCATGTTGGAATAATGCCAAAAACAATGGAGTTTAAATACAAACAAACAAATTAGTGACTGCTTCCTTCATCAAAAGATTCCACTCCTGAATCACTAGCGGCAGCACTGATTTTTTCCTGTCGTCTTCTCATAATTTCTTGTAACTCGGAGCTGCCACTGCTATCCTGAAAGATAAACAGTTCAGACAAGATAGTTACTGACTTGTGCAGGCTGCAGGTCATATCATGAAATGGCTCAGGATAAAATTCTACTGTGGTTTTCTTCTAGTATCTCTTTAGGAAAGCTAACAGCTCT... | benign | 193,298 |
Does the variant impacting EPS8 (EGFR pathway substrate 8, signaling adaptor) on chromosome 12, position 15623289, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCCCTTCAAGGCTTCTTAAAACAAAGCATGTTGGAATAATGCCAAAAACAATGGAGTTTAAATACAAACAAACAAATTAGTGACTGCTTCCTTCATCAAAAGATTCCACTCCTGAATCACTAGCGGCAGCACTGATTTTTTCCTGTCGTCTTCTCATAATTTCTTGTAACTCGGAGCTGCCACTGCTATCCTGAAAGATAAACAGTTCAGACAAGATAGTTACTGACTTGTGCAGGCTGCAGGTCATATCATGAAATGGCTCAGGATAAAATTCTACTGTGGTTTTCTTCTAGTATCTCTTTAGGAAAGCTAACAGCTCT... | TCCCTTCAAGGCTTCTTAAAACAAAGCATGTTGGAATAATGCCAAAAACAATGGAGTTTAAATACAAACAAACAAATTAGTGACTGCTTCCTTCATCAAAAGATTCCACTCCTGAATCACTAGCGGCAGCACTGATTTTTTCCTGTCGTCTTCTCATAATTTCTTGTAACTCGGAGCTGCCACTGCTATCCTGAAAGATAAACAGTTCAGACAAGATAGTTACTGACTTGTGCAGGCTGCAGGTCATATCATGAAATGGCTCAGGATAAAATTCTACTGTGGTTTTCTTCTAGTATCTCTTTAGGAAAGCTAACAGCTCT... | benign | 193,299 |
Classify the chromosome 12 variant at position 15650808 affecting gene EPS8 (EGFR pathway substrate 8, signaling adaptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAGAAGAGAAATGATGACAAATGACTAACTGTGATGACTACCAAAGTTTGCTTAGGGTTCAGAGGAAGTAAGGAAGCTGAGTACTGCCACCCATATTTGTCACTCCAAGTCACCTATGTCTTTCAATCCTAAACAAAAATCATCAGATCCTGAATTACCCAAGTCTTGTTGTAAATGCATTTATTATAGTAGCAATAAAGTATAATAAAGTATCTCTTTTAGGGATGATTACGTTTTTTTGCTTTTTAAGTCACAATTACTTGGCCTCTTTTCCAACAAAATCTCAAGGCATAAAATTCCCTGGAACTGCTAGAATGTGT... | GAGAAGAGAAATGATGACAAATGACTAACTGTGATGACTACCAAAGTTTGCTTAGGGTTCAGAGGAAGTAAGGAAGCTGAGTACTGCCACCCATATTTGTCACTCCAAGTCACCTATGTCTTTCAATCCTAAACAAAAATCATCAGATCCTGAATTACCCAAGTCTTGTTGTAAATGCATTTATTATAGTAGCAATAAAGTATAATAAAGTATCTCTTTTAGGGATGATTACGTTTTTTTGCTTTTTAAGTCACAATTACTTGGCCTCTTTTCCAACAAAATCTCAAGGCATAAAATTCCCTGGAACTGCTAGAATGTGT... | benign | 193,316 |
Evaluate the clinical significance of the mutation at chromosome 12, position 15681305 in gene EPS8 (EGFR pathway substrate 8, signaling adaptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,339 |
A mutation at chromosome position 15681305 on chromosome 12 in gene EPS8 (EGFR pathway substrate 8, signaling adaptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,340 |
Does the variant on chromosome 12 at location 15681305 affecting gene EPS8 (EGFR pathway substrate 8, signaling adaptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,342 |
Evaluate if the mutation on chromosome 12 at position 15681305 in EPS8 (EGFR pathway substrate 8, signaling adaptor) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,343 |
A genetic variant at chromosome 12, position 15681305, affecting gene EPS8 (EGFR pathway substrate 8, signaling adaptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,344 |
Considering the genetic mutation at chromosome 12, position 15681305, impacting EPS8 (EGFR pathway substrate 8, signaling adaptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | TAAAAAACATCAAAGGCTGCTCATTCATTGTAAACAATGCCTAAATTCCTTAGTATAATTCTTCCCAATGTGGTCTACGTTCATTTTTTCAGTCTTATTTCCCAATGCACCACTATGCACTCTCCAGTTAACACCAAATTGCTTGCATCTGATTAATTCATTACACTCATTCTGCAAGTATTTTCTGAGCATAAATTATATACTAGCCACTATGCCAGTAAGCACAGGGAATCCTGAAGTGAACAAGACAAATATGGGCCACCTTCACAGCATTGATAGTCCTGCTTAAAAGGGTTTCATACTGTCTGTAGCATCCTCCG... | benign | 193,345 |
Gene SLCO1B3 variant at chromosome position 20815710 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TACAGTGCTATTGGCCACTAATTCAATGTTAATGAATCAACAGTATATACTAAGGTGTCTTTAAACAAAAACATACATAAAACATTATGTATTAAGTTATGTATTGATCCGTTGATTAAAATATTGTGACCAAAGCCACACAGTCACCTAACACTGTATCTCTTCTAGGAATGATGGATTAATATTTGCAAATTCAGTGTTCCCAGCAACTTTATGGAACATAATTATTGCAAAACGTGAGAATCAATTGTACATATAACCTATATCATACATATTATATAATCAGTATCCTATTACAAATCGGATGCTTATATAGATAA... | TACAGTGCTATTGGCCACTAATTCAATGTTAATGAATCAACAGTATATACTAAGGTGTCTTTAAACAAAAACATACATAAAACATTATGTATTAAGTTATGTATTGATCCGTTGATTAAAATATTGTGACCAAAGCCACACAGTCACCTAACACTGTATCTCTTCTAGGAATGATGGATTAATATTTGCAAATTCAGTGTTCCCAGCAACTTTATGGAACATAATTATTGCAAAACGTGAGAATCAATTGTACATATAACCTATATCATACATATTATATAATCAGTATCCTATTACAAATCGGATGCTTATATAGATAA... | benign | 193,390 |
Variant at chromosome 12, position 20815731, gene SLCO1B3: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTCAATGTTAATGAATCAACAGTATATACTAAGGTGTCTTTAAACAAAAACATACATAAAACATTATGTATTAAGTTATGTATTGATCCGTTGATTAAAATATTGTGACCAAAGCCACACAGTCACCTAACACTGTATCTCTTCTAGGAATGATGGATTAATATTTGCAAATTCAGTGTTCCCAGCAACTTTATGGAACATAATTATTGCAAAACGTGAGAATCAATTGTACATATAACCTATATCATACATATTATATAATCAGTATCCTATTACAAATCGGATGCTTATATAGATAACATTGATATTTACATACTTAG... | TTCAATGTTAATGAATCAACAGTATATACTAAGGTGTCTTTAAACAAAAACATACATAAAACATTATGTATTAAGTTATGTATTGATCCGTTGATTAAAATATTGTGACCAAAGCCACACAGTCACCTAACACTGTATCTCTTCTAGGAATGATGGATTAATATTTGCAAATTCAGTGTTCCCAGCAACTTTATGGAACATAATTATTGCAAAACGTGAGAATCAATTGTACATATAACCTATATCATACATATTATATAATCAGTATCCTATTACAAATCGGATGCTTATATAGATAACATTGATATTTACATACTTAG... | benign | 193,391 |
Determine if the mutation at chromosome 12, position 21174718 in gene SLCO1B1 (solute carrier organic anion transporter family member 1B1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACTCAGCTTTATTGCTAAGACACTAGGTGCAATTATTATGAAAAGTTCCATCATTCATATAGAACGGAGATTTGAGATATCCTCTTCTCTTGTTGGTTTTATTGACGGAAGCTTTGAAATTGGTAACATTTATTTTCTATTTTAATAACCAAACTTGCAAAGTTAAAAAATATATATGCTTTACACCACTGGTTATCAACTGGGGTAAATTTATCTCTCACAGGCAATTTGGCAATAACTAAAAACATTTGTGGTTGTCATAACTGCACAGGGGTTGGGGGCAATGGAAGTGCTACTGGTATCTAAAGGTAGAGGTCAGG... | ACTCAGCTTTATTGCTAAGACACTAGGTGCAATTATTATGAAAAGTTCCATCATTCATATAGAACGGAGATTTGAGATATCCTCTTCTCTTGTTGGTTTTATTGACGGAAGCTTTGAAATTGGTAACATTTATTTTCTATTTTAATAACCAAACTTGCAAAGTTAAAAAATATATATGCTTTACACCACTGGTTATCAACTGGGGTAAATTTATCTCTCACAGGCAATTTGGCAATAACTAAAAACATTTGTGGTTGTCATAACTGCACAGGGGTTGGGGGCAATGGAAGTGCTACTGGTATCTAAAGGTAGAGGTCAGG... | benign | 193,430 |
Does the chromosome 12 mutation at position 21196928 within gene SLCO1B1 (solute carrier organic anion transporter family member 1B1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTTTACTCCTGGCAGAAGTTAAAGCAGGAGCAGGCACATCACATGTTGAGAGAAAGAGCAAGGGGGAGGCAAGGTGCCACACACTTTTTAAGCAATCAGATCTTCTCCTGAGAACTCATACACTATTGCAAGGACAGCACCAAGCAATGAAGGATCAACCCCCATGACCCAAACACCTCCCACCAGGCCCTACCTCCAACATTGGATATTACATTTCAGCAGGAGATTTGAACAAGACAAATACCCAAACCATATCAGCCTCCAAGTCTTCATGGACTGGTATTGTATAGGAGAAAACTTTCTTCATTCAACCCCAGCAG... | TTTTACTCCTGGCAGAAGTTAAAGCAGGAGCAGGCACATCACATGTTGAGAGAAAGAGCAAGGGGGAGGCAAGGTGCCACACACTTTTTAAGCAATCAGATCTTCTCCTGAGAACTCATACACTATTGCAAGGACAGCACCAAGCAATGAAGGATCAACCCCCATGACCCAAACACCTCCCACCAGGCCCTACCTCCAACATTGGATATTACATTTCAGCAGGAGATTTGAACAAGACAAATACCCAAACCATATCAGCCTCCAAGTCTTCATGGACTGGTATTGTATAGGAGAAAACTTTCTTCATTCAACCCCAGCAG... | benign | 193,439 |
A mutation at chromosome position 21449605 on chromosome 12 in gene PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Myofibrillar_myopathy_8'] | TAACAGTTTATTATAATTTCTTTTATTTAACAATCTAGGAAGTTGGCAGCCATCAGCAGTTCTAGTGCTATTTCAGGTGCAGTTGGGAATTCGGGAACTCAGTGGAGCTGTTAGTGTAGCGAACTTTGTATGTAAAATACATGCATACTGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTTGGCGGGTGGATCACGAGGTCAGGAGGTCGAGACCGTCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCGTGGGGGCGGGCGCCTGTAGTCCCAGC... | TAACAGTTTATTATAATTTCTTTTATTTAACAATCTAGGAAGTTGGCAGCCATCAGCAGTTCTAGTGCTATTTCAGGTGCAGTTGGGAATTCGGGAACTCAGTGGAGCTGTTAGTGTAGCGAACTTTGTATGTAAAATACATGCATACTGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTTGGCGGGTGGATCACGAGGTCAGGAGGTCGAGACCGTCCTGGCTAACACGGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCAGGCGTGGGGGCGGGCGCCTGTAGTCCCAGC... | pathogenic | 193,479 |
Is the genetic mutation found on chromosome 12 at position 21462016, within the gene PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Myofibrillar_myopathy_8'] | ACACACTTAATACCCTAATTGGATAAGGAGATGATTTGCTTTTCCTCATTTTGTTAGATATTTTGATTTTTTAATAGTTGTTAAAGGGCTGTGAAATCTAAATGCTGTAAGAAGCATGCATGCAGTCCTTCGTTACTTTGTGTGATTTCTTTAGAGCATTGGTTTTTGGCTTTCAGTAGGTAGGAGGGGAGCTGGCTGCACGGTGTATCTAATTTTTGTGATGGAAATTACACAAAGTCCCTTCTTCTTGCACCTTCAGATCCTAATATTATATTTTTAACCTGAGAACTTCAACAGTTTAATTCAATAAGCATTTATTG... | ACACACTTAATACCCTAATTGGATAAGGAGATGATTTGCTTTTCCTCATTTTGTTAGATATTTTGATTTTTTAATAGTTGTTAAAGGGCTGTGAAATCTAAATGCTGTAAGAAGCATGCATGCAGTCCTTCGTTACTTTGTGTGATTTCTTTAGAGCATTGGTTTTTGGCTTTCAGTAGGTAGGAGGGGAGCTGGCTGCACGGTGTATCTAATTTTTGTGATGGAAATTACACAAAGTCCCTTCTTCTTGCACCTTCAGATCCTAATATTATATTTTTAACCTGAGAACTTCAACAGTTTAATTCAATAAGCATTTATTG... | pathogenic | 193,504 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 21470350, gene RECQL: what disease(s) if pathogenic? | benign | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | benign | 193,527 |
A genetic variant on chromosome 12, position 21470350, affects the gene RECQL. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | benign | 193,528 |
Is the genetic mutation found on chromosome 12 at position 21470350, within the gene RECQL, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | AGTGTAGAGTGTGTGATAGTGTCATCTGTAGAATTAACGCATGCTGTTGAAACATTTTCTTTGGGACTCTCCCCAATAACATTTTTAGTTATGAAATTTTGTGGCATAAGTTTTCTGCGGCTATTCAAACTTGACACAAAATAACTACCCATTACATTTTCTTTATGATACTCATGACAATAACCTTTTTATCTCTAAATATAGGTTGTACTGCTGGGAAAATACAATGCACAGGGCTTAGGTTCAGATCATGAATTAATGCTGAGATGTACCAAAGGACGAGAATACATCAAAGTCGTCATGCAAAATGGACGAATGAT... | benign | 193,529 |
Evaluate the clinical significance of the mutation at chromosome 12, position 21470951 in gene RECQL: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TAAATTCTAAGTTTGAAATCAGTTCAAAGTTTATTTATAGATATATCTTTCCAATACAACACTGACCGCTTAGATAAAAATCTTAAGTTATTTATTTCTGTGTTTTAAACATAAATATGTTTACTTGTGATTTAGCTTTGGAGCAAATTTAGGTAAGTTATCTACTTAGCCAAATGTACTCTAGTAGACTAGAACCATTCTTTGTGAAATGTCAAAATATGGCTATGGTTTCAGGAACTTTAAAATCGGTTGTATTTTACTTTAAATAGAGATGTAGCAATATCTCGTTTGCTAATATTTATATTGATGACTTACTCCTT... | TAAATTCTAAGTTTGAAATCAGTTCAAAGTTTATTTATAGATATATCTTTCCAATACAACACTGACCGCTTAGATAAAAATCTTAAGTTATTTATTTCTGTGTTTTAAACATAAATATGTTTACTTGTGATTTAGCTTTGGAGCAAATTTAGGTAAGTTATCTACTTAGCCAAATGTACTCTAGTAGACTAGAACCATTCTTTGTGAAATGTCAAAATATGGCTATGGTTTCAGGAACTTTAAAATCGGTTGTATTTTACTTTAAATAGAGATGTAGCAATATCTCGTTTGCTAATATTTATATTGATGACTTACTCCTT... | benign | 193,531 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 21477972, gene RECQL (RecQ like helicase). What disease(s) is it linked to if pathogenic? | benign | AAGGAAAAAAAGAATTATGAAAAATTTCAAGGCCTTGTGCATATATTGACATTTTGGTATAATTCCAGATTTGAGCACCAGCTTCCTTTAAAGCAGAAATGAGCCTGAGCCATCAGTTTTTGTTCCTGTTATCTCTTTTCTCTCTTTAACTTTATCTCCCACTAAACAGTATTTCTCAAACTGATGTCTGTAAGATGCTAACAAATGTGCTATGAATGCAGTGTTCTCCAGATTAATTTTGGGTTAATTTAGATTAATTTGCATGCAAATTAATTTGGAGAACATTGCATTCAACAAAGTTAAATGGGTGTCTCTCTTTA... | AAGGAAAAAAAGAATTATGAAAAATTTCAAGGCCTTGTGCATATATTGACATTTTGGTATAATTCCAGATTTGAGCACCAGCTTCCTTTAAAGCAGAAATGAGCCTGAGCCATCAGTTTTTGTTCCTGTTATCTCTTTTCTCTCTTTAACTTTATCTCCCACTAAACAGTATTTCTCAAACTGATGTCTGTAAGATGCTAACAAATGTGCTATGAATGCAGTGTTCTCCAGATTAATTTTGGGTTAATTTAGATTAATTTGCATGCAAATTAATTTGGAGAACATTGCATTCAACAAAGTTAAATGGGTGTCTCTCTTTA... | benign | 193,602 |
Is the genetic change at chromosome 12, position 21486594, within gene RECQL (RecQ like helicase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | benign | 193,623 |
Does the variant impacting RECQL (RecQ like helicase) on chromosome 12, position 21486594, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | benign | 193,624 |
Is the genetic variant on chromosome 12, position 21486594, gene RECQL (RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | benign | 193,625 |
Is the genetic variant on chromosome 12, position 21486594, gene RECQL (RecQ like helicase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | GGGTAAACTAAAGGAACCAGGGCTTCTTAGAGGTATGGCTGACTCTAGGTCTGGGCAGGAAATGCATAAAATGAACATGGATTATCTTACTGCAAAAGAAAGCAAGGAACAGAAGCAATGGGGTTAAGAGAAAGGATTCAGGAACCAACTTAAAGAGGCTCTCACTGCCCAAGGACAGGACTATTTCAGCATTACATATATACATATTGATATATATATATATATGATTCCAAAGGTGAATCATATTATACGTCAAAGCTTGTAAGTTTATAGTGATACTTGGGGAAAGAAAACCTTAAAAATCTTGTTGACCACCTTTG... | benign | 193,626 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 21539232, gene GYS2 (glycogen synthase 2): what disease(s) if pathogenic? | benign | GACAAAAATAAGACATAAACATCACAACAGTTTCTTGGCTTTCAACGATGTAAATACTATGCATGCACTATCAATTTTTTAAGTAGTTATCTATCTTTTGTAGTCTGGGTGCTATTAAACTTTGATTCATTTTGATTTTGATACCACCAATCTCAAGAGGGATTCATTCAATATATAGCTATTCTTTATTAAGTACTGAAATGTGCTAAGTGTTATATACATATTATTATCATCTTATCTTTTAACAACACTCTGATAAATATGTTTTTTTCAGTACAGAAGAAAATGGAGGGTTAGAGGGGTCAAGTAACTTGCCCAAC... | GACAAAAATAAGACATAAACATCACAACAGTTTCTTGGCTTTCAACGATGTAAATACTATGCATGCACTATCAATTTTTTAAGTAGTTATCTATCTTTTGTAGTCTGGGTGCTATTAAACTTTGATTCATTTTGATTTTGATACCACCAATCTCAAGAGGGATTCATTCAATATATAGCTATTCTTTATTAAGTACTGAAATGTGCTAAGTGTTATATACATATTATTATCATCTTATCTTTTAACAACACTCTGATAAATATGTTTTTTTCAGTACAGAAGAAAATGGAGGGTTAGAGGGGTCAAGTAACTTGCCCAAC... | benign | 193,671 |
Does the variant impacting GYS2 on chromosome 12, position 21558205, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency'] | TCAACCTAGTCTTTTTAATTTTTGTTTTTGTGTTTTTTGTGAGGCGGAGTCTCACTCTGTCACCCATGCTGGAGGGCAGTGGCACAATCGCAGCCTCTACCTCCAGGGCCCAAGCAATCCTCCCACTTATGCCTCCCTAGTAGCTGGTACTACAGGCGTGTACCACCACACCTGGCTAATTTCTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCACCTACCGCAACCTCCCAAAGGGCTGGAATTATAGGTGTGAAGCACCGCACCCAGCCCTCAAC... | TCAACCTAGTCTTTTTAATTTTTGTTTTTGTGTTTTTTGTGAGGCGGAGTCTCACTCTGTCACCCATGCTGGAGGGCAGTGGCACAATCGCAGCCTCTACCTCCAGGGCCCAAGCAATCCTCCCACTTATGCCTCCCTAGTAGCTGGTACTACAGGCGTGTACCACCACACCTGGCTAATTTCTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCACCTACCGCAACCTCCCAAAGGGCTGGAATTATAGGTGTGAAGCACCGCACCCAGCCCTCAAC... | pathogenic | 193,691 |
Determine whether the variant at chromosome 12, position 21560473, in gene GYS2 (glycogen synthase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease'] | GAGATGGCACTAATGATGATGACTAAGTCTTGTGTGTGTGTCAAAGGAAGATATGGGTTGAAGAATCTCCTTTGCATGCTATGAATACATGAAGCTTTTGTTTTCCGCCTGCAGCTACTATATGAGAGACCTGGACTTCTTGATTGCTTCCGGGACTTATTTGGAATATAAAGGTGTCCTGAAGTCTTGACTTAAGATGAACTTTACTGATTTCTTTTAGCAAGGCTGTCCTCCAGTATCTGATTCTTCCCTATTATAACAAGCATTCTGATGCAAGCCTGACACATTTGTTTTATCTCCTTTGTAATAATTCCACTCGA... | GAGATGGCACTAATGATGATGACTAAGTCTTGTGTGTGTGTCAAAGGAAGATATGGGTTGAAGAATCTCCTTTGCATGCTATGAATACATGAAGCTTTTGTTTTCCGCCTGCAGCTACTATATGAGAGACCTGGACTTCTTGATTGCTTCCGGGACTTATTTGGAATATAAAGGTGTCCTGAAGTCTTGACTTAAGATGAACTTTACTGATTTCTTTTAGCAAGGCTGTCCTCCAGTATCTGATTCTTCCCTATTATAACAAGCATTCTGATGCAAGCCTGACACATTTGTTTTATCTCCTTTGTAATAATTCCACTCGA... | pathogenic | 193,703 |
A mutation at chromosome position 21575895 on chromosome 12 in gene GYS2 (glycogen synthase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency'] | GGGCCCAACCTTGCACCTACACCATGTCTTTACTCCTACCATATCCCTCTGGAACTATTGTTCCAAAGTGGGACAGAAATCAGGCCTCTCACCTCTATACTCTAGTGTACTCTGAACAAAGTTGAACTATATGAGCTGTCTTTCAACCCAAGGGAAGCTTTGTCATGAATATTGATTAGCTAAAAGGGCATTTCTGCCATCTGGTTGGCAGATGAAATGTACAGATCAATACTTATCTTTCAGCTTCAGCAATCTGAAAGAAGGGTGAGTAAGAGGGAGGGAGGAAGGAATATTTACCTTATCAAGATGGTTGTAGAAAT... | GGGCCCAACCTTGCACCTACACCATGTCTTTACTCCTACCATATCCCTCTGGAACTATTGTTCCAAAGTGGGACAGAAATCAGGCCTCTCACCTCTATACTCTAGTGTACTCTGAACAAAGTTGAACTATATGAGCTGTCTTTCAACCCAAGGGAAGCTTTGTCATGAATATTGATTAGCTAAAAGGGCATTTCTGCCATCTGGTTGGCAGATGAAATGTACAGATCAATACTTATCTTTCAGCTTCAGCAATCTGAAAGAAGGGTGAGTAAGAGGGAGGGAGGAAGGAATATTTACCTTATCAAGATGGTTGTAGAAAT... | pathogenic | 193,723 |
Variant on chromosome 12, at position 21575903, affecting GYS2 (glycogen synthase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency'] | CCTTGCACCTACACCATGTCTTTACTCCTACCATATCCCTCTGGAACTATTGTTCCAAAGTGGGACAGAAATCAGGCCTCTCACCTCTATACTCTAGTGTACTCTGAACAAAGTTGAACTATATGAGCTGTCTTTCAACCCAAGGGAAGCTTTGTCATGAATATTGATTAGCTAAAAGGGCATTTCTGCCATCTGGTTGGCAGATGAAATGTACAGATCAATACTTATCTTTCAGCTTCAGCAATCTGAAAGAAGGGTGAGTAAGAGGGAGGGAGGAAGGAATATTTACCTTATCAAGATGGTTGTAGAAATCAATATTT... | CCTTGCACCTACACCATGTCTTTACTCCTACCATATCCCTCTGGAACTATTGTTCCAAAGTGGGACAGAAATCAGGCCTCTCACCTCTATACTCTAGTGTACTCTGAACAAAGTTGAACTATATGAGCTGTCTTTCAACCCAAGGGAAGCTTTGTCATGAATATTGATTAGCTAAAAGGGCATTTCTGCCATCTGGTTGGCAGATGAAATGTACAGATCAATACTTATCTTTCAGCTTCAGCAATCTGAAAGAAGGGTGAGTAAGAGGGAGGGAGGAAGGAATATTTACCTTATCAAGATGGTTGTAGAAATCAATATTT... | pathogenic | 193,724 |
The chromosome 12, position 21604451 genetic variant in gene GYS2 (glycogen synthase 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCATATCACTACTATGAAATGCAGGGAAGTAAAAATTCAAATCATTAAATTTAAAGAAACTATAGTGGCAATGTATTATTAGGAATAAACACAATAATTATCCATCTATATGAAAATCTCAAACCATACCAGGCTATGATAATATTAAAATAAAGATACATTGAAGATGATATCAACTTGTGTAAATCACATTGTGGGGACCTCTCCACAAAAACACTTCCCTTCCCCTTGAAAGGGAAATGATAGAAAATAAGTATTAAAGGCAGCTTAGGGGTTGAAAAACAAATTTTTTCAAAAAAAAATCCATTGAGCATTTTCTA... | TCATATCACTACTATGAAATGCAGGGAAGTAAAAATTCAAATCATTAAATTTAAAGAAACTATAGTGGCAATGTATTATTAGGAATAAACACAATAATTATCCATCTATATGAAAATCTCAAACCATACCAGGCTATGATAATATTAAAATAAAGATACATTGAAGATGATATCAACTTGTGTAAATCACATTGTGGGGACCTCTCCACAAAAACACTTCCCTTCCCCTTGAAAGGGAAATGATAGAAAATAAGTATTAAAGGCAGCTTAGGGGTTGAAAAACAAATTTTTTCAAAAAAAAATCCATTGAGCATTTTCTA... | benign | 193,732 |
Determine whether the variant at chromosome 12, position 21647017, in gene LDHB (lactate dehydrogenase B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGTTACTGTGTCTGTGTAGAAAGAAGTAGACATTAAGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGAGATGCTGTTAATCTGTAACCCTACCCCCACCCCTGCGCTCCCTGAAACATGTGCTGTGTCAACTCAGGGTTAAATGGATTAAGGGCTGTGCAGGATGTGCTTTGTTAAACAAATGCTTGAAGGCACATGCTTGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGAGACACAGTACACTATGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGGTTTC... | TGTTACTGTGTCTGTGTAGAAAGAAGTAGACATTAAGAGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGAGATGCTGTTAATCTGTAACCCTACCCCCACCCCTGCGCTCCCTGAAACATGTGCTGTGTCAACTCAGGGTTAAATGGATTAAGGGCTGTGCAGGATGTGCTTTGTTAAACAAATGCTTGAAGGCACATGCTTGTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGAGACACAGTACACTATGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTGTCCAAGGTTTC... | benign | 193,738 |
Clinical significance of chromosome 12, position 21805251, gene ABCC9: benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAATAATATCTGCTGTGCATTTTCCTTCCAGAAAAATATTAGCTGTTCAATAGCCATATCATGGATGTCTAAAAAAAGAATTTGGCCTCTAAACCCATAAATATAATCTTATAAACATTGCATTGATATTCTAAAATAATATTTACTAGAAAAAAATAAAAATAAAAACATTAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGGCGAGGCGGGCGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGACCAAAATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGG... | CAATAATATCTGCTGTGCATTTTCCTTCCAGAAAAATATTAGCTGTTCAATAGCCATATCATGGATGTCTAAAAAAAGAATTTGGCCTCTAAACCCATAAATATAATCTTATAAACATTGCATTGATATTCTAAAATAATATTTACTAGAAAAAAATAAAAATAAAAACATTAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGGCGAGGCGGGCGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGACCAAAATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGG... | benign | 193,772 |
The genetic variant at chromosome 12, position 21805254, affecting gene ABCC9: benign or pathogenic? Disease name(s) if pathogenic? | benign | TAATATCTGCTGTGCATTTTCCTTCCAGAAAAATATTAGCTGTTCAATAGCCATATCATGGATGTCTAAAAAAAGAATTTGGCCTCTAAACCCATAAATATAATCTTATAAACATTGCATTGATATTCTAAAATAATATTTACTAGAAAAAAATAAAAATAAAAACATTAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGGCGAGGCGGGCGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGACCAAAATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGC... | TAATATCTGCTGTGCATTTTCCTTCCAGAAAAATATTAGCTGTTCAATAGCCATATCATGGATGTCTAAAAAAAGAATTTGGCCTCTAAACCCATAAATATAATCTTATAAACATTGCATTGATATTCTAAAATAATATTTACTAGAAAAAAATAAAAATAAAAACATTAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGGCGAGGCGGGCGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGACCAAAATGAAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGC... | benign | 193,773 |
Clinical significance of chromosome 12, position 21806064, gene ABCC9: benign or pathogenic? Name the disease(s) if pathogenic. | benign | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | benign | 193,778 |
Is the genetic mutation found on chromosome 12 at position 21806064, within the gene ABCC9, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | benign | 193,779 |
For chromosome 12, position 21806064, gene ABCC9: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | GGTGGTGCTCTCCCTTTTATGGGCCTGTTATGAGGAGTTGGTCCTCTAAAAAATCTTACAGTGATTCTTCCATGACAGCTTCATGTATATTAGGGGCGGGTGGGAGCAGGGAATTCTAGGTATCCTAGTGGCCACGTTCACATGAGTGGTTTTGAAATGAAGAATGAGTGAAAGAAATATAAGTCTATAGAAAAGTATTCAGTGAATGTAGAAGAGAAATTAGGTAAGAGGTAACCTAATTAGGAAACCTAACATTTTGTTAAAAATACAAATTATGCTCAAGTAATCTTCCAGATACAGACTAAATAGAACCATCCAAC... | benign | 193,780 |
Mutation found at chromosome 12 position 21812171, gene ABCC9: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TGCTTGATGAATGAATGCATGATCTTAATAGTATAAAAAATTGTCTTGATATCATTATAAAACTTTGTATACATTATATCATATTATCAAGTTTGTTACCTAGCTCCATTGGCTCCAAACTATGCTTAGTATAACCCAAATAGTATCTAGCAAAATATTCCTGCAGGACTGATGCTACATACATACATCTCTATGGGAGCATATTACACTATTTTAGATCAGCTGTGCTGCCATCACCAACAATAGTAGTGTACTGGTCCATTCTCATGCTGCTATAAGGACATACCCGAGACTGGGTAATTTATAAAGAAAGAGGTTTA... | TGCTTGATGAATGAATGCATGATCTTAATAGTATAAAAAATTGTCTTGATATCATTATAAAACTTTGTATACATTATATCATATTATCAAGTTTGTTACCTAGCTCCATTGGCTCCAAACTATGCTTAGTATAACCCAAATAGTATCTAGCAAAATATTCCTGCAGGACTGATGCTACATACATACATCTCTATGGGAGCATATTACACTATTTTAGATCAGCTGTGCTGCCATCACCAACAATAGTAGTGTACTGGTCCATTCTCATGCTGCTATAAGGACATACCCGAGACTGGGTAATTTATAAAGAAAGAGGTTTA... | benign | 193,794 |
Classify the chromosome 12 variant at position 21829072 affecting gene ABCC9 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCATTAATCTGACAGCAGGAAGTGCTAAAGAGCAGAAACAGGAGTCGGTCAGAC... | TCAGGTGTCAGTATTTTGTTTTTTGCAGGTGGAATTCAAGATACAGAGTCTATTATATTTAGACAGGTTCAACTGCTTTTTCACGTGGGGGTTAAAGTATTGGGTTATGAGACAAACTAAACTAAACAATTTTGAGTTTGGCTGCTGTTCCTTTCTAATTTTTCCTGACCTTCCCTTTCTTGGCAGTCTTAAGGCTCTAATATCTTGTCTTCTGGCTATGAGAACAGAGCATATGGTTTGCTTGAAGATTCTTGTTCAACACTTATCCATTAATCTGACAGCAGGAAGTGCTAAAGAGCAGAAACAGGAGTCGGTCAGAC... | benign | 193,822 |
Mutation found at chromosome 12 position 21863070, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CTGAAGAGAACAGGCATCTGTGACAGCTTTGTACCTTTGGGAGAAATGATTTTGAATTTTTAGATCTCAATTAATACATTGTCCATAAACTAAGTGCCAAATTCAATACTTTGGAAGTTGAAATAAAACATTTGCTGAATCACTTATTATATGCCAGCCTCTGCTCTACATTTCTGGATACAAAGATACATAAGTACTACTTCCCCCCCCTTTTTTTTTTTTTTTTGAAGACAGAGTCTTACTCTGTCACCCAAGCTGGAGTTCAGTGGCACGATCTTGGTTCACTGCAACCTCTGCCACCTGGGCTCAAGTGATTCTCC... | CTGAAGAGAACAGGCATCTGTGACAGCTTTGTACCTTTGGGAGAAATGATTTTGAATTTTTAGATCTCAATTAATACATTGTCCATAAACTAAGTGCCAAATTCAATACTTTGGAAGTTGAAATAAAACATTTGCTGAATCACTTATTATATGCCAGCCTCTGCTCTACATTTCTGGATACAAAGATACATAAGTACTACTTCCCCCCCCTTTTTTTTTTTTTTTTGAAGACAGAGTCTTACTCTGTCACCCAAGCTGGAGTTCAGTGGCACGATCTTGGTTCACTGCAACCTCTGCCACCTGGGCTCAAGTGATTCTCC... | benign | 193,899 |
The mutation in gene ABCC9 (ATP binding cassette subfamily C member 9) at chromosome 12, position 21887938—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATATAATATAGATTGATTTCCTGGGAAAAGCTTTCCAAGTTCCAATCAGTTCCAGTCAGGAGACTGATTGTGTTGGTTCACATAAATGGTAAATATATTCATATTTTTTCTAATAGTAACAATTATAACTAACATTAACTTATGACTCACGGTGGAATAATGCTTTTCTACTTTGTGAAATATATTAATTTTTAAGAATTTCTTCAAAATTTTTTAGACACTTCCTTCAAGAAAGTAGTATAATCCAGTCATTGATTTAAATATTATCTAATGGCTAATGGCTCTTAAATTTATATCTCCAATGCTTATGTCTCTTCTTG... | ATATAATATAGATTGATTTCCTGGGAAAAGCTTTCCAAGTTCCAATCAGTTCCAGTCAGGAGACTGATTGTGTTGGTTCACATAAATGGTAAATATATTCATATTTTTTCTAATAGTAACAATTATAACTAACATTAACTTATGACTCACGGTGGAATAATGCTTTTCTACTTTGTGAAATATATTAATTTTTAAGAATTTCTTCAAAATTTTTTAGACACTTCCTTCAAGAAAGTAGTATAATCCAGTCATTGATTTAAATATTATCTAATGGCTAATGGCTCTTAAATTTATATCTCCAATGCTTATGTCTCTTCTTG... | benign | 193,917 |
Chromosome 12, position 21910317, gene ABCC9 (ATP binding cassette subfamily C member 9): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAAAGGACATAATTTTTAGTGCAAATGTAGTATTTCTTAATTATTATATTGTTTATTTGGAAGTCAACGGTATTAGGGTTCTCTAGAGGGACAGAATTAACCATCAAGTCAACCCAGCTGTGACAGTTGGGTTTTACTCTGATTTATTTGGGGAAGGCTAAGTGCTAGGAATGTATTTTTAGTATGATAATCTGTACAACTGATGTCAAACCAATGTATTGCATGAATTTGCAAAGTGGTCCCATGACACTTCCAACCTTTTAAGTAGTCTTCAGATTTTTAAAAGGGCATAAATTTTTTCTTGAAAACGCTGTCACCCA... | GAAAGGACATAATTTTTAGTGCAAATGTAGTATTTCTTAATTATTATATTGTTTATTTGGAAGTCAACGGTATTAGGGTTCTCTAGAGGGACAGAATTAACCATCAAGTCAACCCAGCTGTGACAGTTGGGTTTTACTCTGATTTATTTGGGGAAGGCTAAGTGCTAGGAATGTATTTTTAGTATGATAATCTGTACAACTGATGTCAAACCAATGTATTGCATGAATTTGCAAAGTGGTCCCATGACACTTCCAACCTTTTAAGTAGTCTTCAGATTTTTAAAAGGGCATAAATTTTTTCTTGAAAACGCTGTCACCCA... | benign | 193,945 |
Chromosome 12, position 21910331, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTTAGTGCAAATGTAGTATTTCTTAATTATTATATTGTTTATTTGGAAGTCAACGGTATTAGGGTTCTCTAGAGGGACAGAATTAACCATCAAGTCAACCCAGCTGTGACAGTTGGGTTTTACTCTGATTTATTTGGGGAAGGCTAAGTGCTAGGAATGTATTTTTAGTATGATAATCTGTACAACTGATGTCAAACCAATGTATTGCATGAATTTGCAAAGTGGTCCCATGACACTTCCAACCTTTTAAGTAGTCTTCAGATTTTTAAAAGGGCATAAATTTTTTCTTGAAAACGCTGTCACCCACCATAAATTTGACT... | TTTAGTGCAAATGTAGTATTTCTTAATTATTATATTGTTTATTTGGAAGTCAACGGTATTAGGGTTCTCTAGAGGGACAGAATTAACCATCAAGTCAACCCAGCTGTGACAGTTGGGTTTTACTCTGATTTATTTGGGGAAGGCTAAGTGCTAGGAATGTATTTTTAGTATGATAATCTGTACAACTGATGTCAAACCAATGTATTGCATGAATTTGCAAAGTGGTCCCATGACACTTCCAACCTTTTAAGTAGTCTTCAGATTTTTAAAAGGGCATAAATTTTTTCTTGAAAACGCTGTCACCCACCATAAATTTGACT... | benign | 193,946 |
Mutation found at chromosome 12 position 21910991, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATGGCTCAAAACATCAATTAATGAACTGTATCCATGCAGTTCAAGTATATAATTTATGCCTATATGCCAATGATAATAGCTTAATAGCAGCTGTCTGGGGCCAATGACACGTTTACTGCCTAACTAATTAGGTAGTTTGAGATATCCAATAAAAACAAAAAATTCCTTAAGGTCACCCATGATGCAGTCATTCAGAGACTTTTGGTGCACTTAAAATTACACCATCTAGGCAGCTACCTAATTCACCTTTATATAAGTATATTTTGATAAAATGAGACAAAGTACATCTCAAATCCTACTTTGTGCCAAGCACTGTGCAT... | ATGGCTCAAAACATCAATTAATGAACTGTATCCATGCAGTTCAAGTATATAATTTATGCCTATATGCCAATGATAATAGCTTAATAGCAGCTGTCTGGGGCCAATGACACGTTTACTGCCTAACTAATTAGGTAGTTTGAGATATCCAATAAAAACAAAAAATTCCTTAAGGTCACCCATGATGCAGTCATTCAGAGACTTTTGGTGCACTTAAAATTACACCATCTAGGCAGCTACCTAATTCACCTTTATATAAGTATATTTTGATAAAATGAGACAAAGTACATCTCAAATCCTACTTTGTGCCAAGCACTGTGCAT... | benign | 193,955 |
Variant at chromosome position 21912765, chromosome 12, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CCAAAATGAAAATGGAATGAAAAAACAAAACTGAAGCTACCGCTATTCTTTTCACTGAATGGTATATAGCATTCTTAGGAAACAAATAGTATTCACAGCCTTTACATACCAGCAGAGCTCCACGGAGGTTAATGCCAGTCTCTATGGTTACATAGTAGGAAGCCTGCAAAAATGTCCTTTGCAGAATAAGAGCCAAGAAGAGAAGAACTGCTAGAACGTAAGCGTTTTCAAGAAATTCCTTTGATGAGAGGGTTTCTGAAATCTGGTCCCCAAAGAAAAAAAGTGTCATATTAAAACTCGTCTTTTTATAGACCAGGTGT... | CCAAAATGAAAATGGAATGAAAAAACAAAACTGAAGCTACCGCTATTCTTTTCACTGAATGGTATATAGCATTCTTAGGAAACAAATAGTATTCACAGCCTTTACATACCAGCAGAGCTCCACGGAGGTTAATGCCAGTCTCTATGGTTACATAGTAGGAAGCCTGCAAAAATGTCCTTTGCAGAATAAGAGCCAAGAAGAGAAGAACTGCTAGAACGTAAGCGTTTTCAAGAAATTCCTTTGATGAGAGGGTTTCTGAAATCTGGTCCCCAAAGAAAAAAAGTGTCATATTAAAACTCGTCTTTTTATAGACCAGGTGT... | benign | 193,957 |
Clinical classification of chromosome 12, position 21913072, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? Disease(s) if pathogenic? | benign | ATAGACCAGGTGTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATG... | ATAGACCAGGTGTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATG... | benign | 193,967 |
Mutation found at chromosome 12 position 21913083, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATGGAAGACATATA... | GTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATGGAAGACATATA... | benign | 193,969 |
Clinical classification of chromosome 12, position 21913083, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? Disease(s) if pathogenic? | benign | GTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATGGAAGACATATA... | GTACAGTTTGCATTTATTAAAAGATACATAATATTTAAATACAAAAATTCAATGTATTTATTATACAGCAGTGAAATACAATACAAACCAGGTAAATCCATAAAATCCCTAATTGATTAATGAGTGATGGAAATGCCTAATTGAAGAAAAAAAAGGTAGAATTTATTTTTAAAAAATTAGAATGCATTTCCTGCAAAGGTATATCCAACCTTAGTAAAATGGTAAGCAGCAAATAAAAAGACAAGTTAGTTTACACTCTAATTTGGAAGTAGAAGCTATAAAATTGATAGTTGGCCAGCAAGACCAATGGAAGACATATA... | benign | 193,970 |
Evaluate this variant at chromosome 12, position 21936517, gene ABCC9 (ATP binding cassette subfamily C member 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTAAATTTCTTGATGATGAGCTTTTAAGCAAGCTCAAAACCATTATAGGTCCACCGTTAGCTTGCCACTGAAGAAAAAAATTCAAGGTTGTATGTTAGTAAAATTCTGATCGTTTTCTCCCTAAAGTACTATACAGTTTAGTTACTACGTAGAGTAATACTAGGTCATGTAGAGTAATACTAGGTCATGTAGAGTAATACTAGGTCATATGTGGTGTGCTAGTAGGCCCCACTTTTGTCTTGTTTTGTTCTTTTTTCTCATTTTTTGACTGTAGAAAAAAAGCCCCACCTACTTCAAGAACAAATGGGGGTTTGGGCTTG... | CTAAATTTCTTGATGATGAGCTTTTAAGCAAGCTCAAAACCATTATAGGTCCACCGTTAGCTTGCCACTGAAGAAAAAAATTCAAGGTTGTATGTTAGTAAAATTCTGATCGTTTTCTCCCTAAAGTACTATACAGTTTAGTTACTACGTAGAGTAATACTAGGTCATGTAGAGTAATACTAGGTCATGTAGAGTAATACTAGGTCATATGTGGTGTGCTAGTAGGCCCCACTTTTGTCTTGTTTTGTTCTTTTTTCTCATTTTTTGACTGTAGAAAAAAAGCCCCACCTACTTCAAGAACAAATGGGGGTTTGGGCTTG... | benign | 194,006 |
Does the variant on chromosome 12 at location 25208156 affecting gene KRAS (KRAS proto-oncogene, GTPase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GAAGAAAAAAAAAATCAATGGAATACAAATGAGATGAACTTGTGCAAACTGTAACTTAACATGCCCCACAAAGTTTCTATGTATATATTAGGACAAAATTGTGCAATGGTGACAACAGTTTTGATAACCTATAAAAGTTAGGTTCTAAATTCCTATGCAGTGTGACTCAGTTAAATAGAGCCTAGAATGCCTACTTGGGAACATTCACTCAAATGATACAATATACGTCTGCTATATTCTTCCACAAACATGTTAATGCCTAAGTCTATGTAATTTAGCTTTTTTTAAAAAAACTTCAACAAGGATTTTTGTCTTTAAGG... | GAAGAAAAAAAAAATCAATGGAATACAAATGAGATGAACTTGTGCAAACTGTAACTTAACATGCCCCACAAAGTTTCTATGTATATATTAGGACAAAATTGTGCAATGGTGACAACAGTTTTGATAACCTATAAAAGTTAGGTTCTAAATTCCTATGCAGTGTGACTCAGTTAAATAGAGCCTAGAATGCCTACTTGGGAACATTCACTCAAATGATACAATATACGTCTGCTATATTCTTCCACAAACATGTTAATGCCTAAGTCTATGTAATTTAGCTTTTTTTAAAAAAACTTCAACAAGGATTTTTGTCTTTAAGG... | benign | 194,048 |
Is the genetic change at chromosome 12, position 25209828, within gene KRAS (KRAS proto-oncogene, GTPase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGTGATTAGGTCAAATCCCTTTATGGTATCTGTCAGATTCTCTTGAGCCCTGAGGAAATAAGATGTAGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATT... | AGTGATTAGGTCAAATCCCTTTATGGTATCTGTCAGATTCTCTTGAGCCCTGAGGAAATAAGATGTAGGGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATT... | benign | 194,056 |
A genetic variant at chromosome 12, position 25250767, affecting gene KRAS—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGGATCCCTCACCGAGAGTTAGAAAAGCTAGTAAGGAGTGGACTGGACTCGAATCCAACAATTTTGTAATGGAAGAAAATTCATTTTTATTTTTCATAAAACTGAATTACCATCTACCATCTCTTAAAAGCAAATATACTGTGGATGGCTACAGTCTCAAAGTAAACTATTGTTAGCAACCATATTTGATATCTGTAGTCTATAACATGCAGAGTCAGCATTTTGGACCTCAGTCACTTCAGTGACACCAGTTTTATGGTTAATTCTGAGCTGATAATTACAAATAGACCTTTCCCATTTATAACTTATTTGTAAAATGA... | GGGATCCCTCACCGAGAGTTAGAAAAGCTAGTAAGGAGTGGACTGGACTCGAATCCAACAATTTTGTAATGGAAGAAAATTCATTTTTATTTTTCATAAAACTGAATTACCATCTACCATCTCTTAAAAGCAAATATACTGTGGATGGCTACAGTCTCAAAGTAAACTATTGTTAGCAACCATATTTGATATCTGTAGTCTATAACATGCAGAGTCAGCATTTTGGACCTCAGTCACTTCAGTGACACCAGTTTTATGGTTAATTCTGAGCTGATAATTACAAATAGACCTTTCCCATTTATAACTTATTTGTAAAATGA... | benign | 194,124 |
Regarding the variant at chromosome 12 and position 27963664, affecting gene PTHLH (parathyroid hormone like hormone): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic | AAATATGTGCAGTAAGCCAGAATTTATAGGGTTTGTTACCCTTTAGAGATCCATTAGATGTTTGCAGGATAGGTCATTCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTT... | AAATATGTGCAGTAAGCCAGAATTTATAGGGTTTGTTACCCTTTAGAGATCCATTAGATGTTTGCAGGATAGGTCATTCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTT... | pathogenic | 194,156 |
A genetic alteration at chromosome 12, position 30669257, in gene IPO8 (importin 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['IPO8-related_disorder'] | GCAGTTAGTTCATGTGTATTATCCCATTTAATCCTCCCAGCACTATTATCATCACCCGTTTGACAGCTGAAAGCACTGAATTTTAGAGAGGTTAAGTAACCTGTCCACAGTCACACAGCAGGTAAGTGACCAAACCAGCATTCACACCCACGCTATCTTAACATCAAAGCCTGAGCTCTTGTTAGTTCTTACCAAATCAAAAAACATTATTGGGGGAAGTGAGGAGATGTTGGTTAAAGAGTAGATAAAAAGAATAAACTAAAACATTATTATTAATCAGTCAATACATTTAGATAGGAATGCTTTGTTTCACGTAAATA... | GCAGTTAGTTCATGTGTATTATCCCATTTAATCCTCCCAGCACTATTATCATCACCCGTTTGACAGCTGAAAGCACTGAATTTTAGAGAGGTTAAGTAACCTGTCCACAGTCACACAGCAGGTAAGTGACCAAACCAGCATTCACACCCACGCTATCTTAACATCAAAGCCTGAGCTCTTGTTAGTTCTTACCAAATCAAAAAACATTATTGGGGGAAGTGAGGAGATGTTGGTTAAAGAGTAGATAAAAAGAATAAACTAAAACATTATTATTAATCAGTCAATACATTTAGATAGGAATGCTTTGTTTCACGTAAATA... | pathogenic | 194,168 |
Mutation found at chromosome 12 position 31087926, gene DDX11 (DEAD/H-box helicase 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ATGGGGTGGGGGGCTGCACCTGATGATGAGTCCCGTGTGTCCTGTGACATCCTGGCCACCACATCTGTCGGAGGGTAACTGCAAGACCAGAGACCCTCCATGGATATTCCTGAAGGTTCATCCCCGGCCTTCACAGTCTGTCTGCAGGGCGCCTTCTGATGCCACCTCCAGCCGCCATCCACCAGACGCCAGCTTCCCCGCTGCCCTGAACTTCCTCCAGCGCACCAGGCCTTCCTCTGTCCTGTCTGAGGATTTGCTCATGCAACGTGCTGTGGCCAAACACCCTGCCCTCCTCCCTTGGCAGATGTCTTCCTCTCCTT... | ATGGGGTGGGGGGCTGCACCTGATGATGAGTCCCGTGTGTCCTGTGACATCCTGGCCACCACATCTGTCGGAGGGTAACTGCAAGACCAGAGACCCTCCATGGATATTCCTGAAGGTTCATCCCCGGCCTTCACAGTCTGTCTGCAGGGCGCCTTCTGATGCCACCTCCAGCCGCCATCCACCAGACGCCAGCTTCCCCGCTGCCCTGAACTTCCTCCAGCGCACCAGGCCTTCCTCTGTCCTGTCTGAGGATTTGCTCATGCAACGTGCTGTGGCCAAACACCCTGCCCTCCTCCCTTGGCAGATGTCTTCCTCTCCTT... | benign | 194,185 |
A genetic alteration at chromosome 12, position 32602140, in gene FGD4 (FYVE, RhoGEF and PH domain containing 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CTATGCTCTTTGAAAGAATGAGTTTATGGGTCACATATTCATTTTTGAAGGAATTTCACCATAAGCCAAAATCAAATGATATGAAGTTTGTACCTTTGAAACAACTTTCTTCCTTATGGGAATTACAGACCTGAAATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAA... | CTATGCTCTTTGAAAGAATGAGTTTATGGGTCACATATTCATTTTTGAAGGAATTTCACCATAAGCCAAAATCAAATGATATGAAGTTTGTACCTTTGAAACAACTTTCTTCCTTATGGGAATTACAGACCTGAAATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAA... | benign | 194,252 |
Mutation found at chromosome 12 position 32602274, gene FGD4 (FYVE, RhoGEF and PH domain containing 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4H'] | AATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATGTAACAGAATGGCAATTAAGAGGTATAGTAGCCCTAGTGAAGTATAGCTAAGACTGAA... | AATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATGTAACAGAATGGCAATTAAGAGGTATAGTAGCCCTAGTGAAGTATAGCTAAGACTGAA... | pathogenic | 194,255 |
Does the variant impacting FGD4 (FYVE, RhoGEF and PH domain containing 4) on chromosome 12, position 32602314, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | TATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATGTAACAGAATGGCAATTAAGAGGTATAGTAGCCCTAGTGAAGTATAGCTAAGACTGAAGGTTTGGGTTTTTGTTTTTTGTTTTTCTTTCTTTCTTTCT... | TATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATGTAACAGAATGGCAATTAAGAGGTATAGTAGCCCTAGTGAAGTATAGCTAAGACTGAAGGTTTGGGTTTTTGTTTTTTGTTTTTCTTTCTTTCTTTCT... | pathogenic | 194,256 |
Clinical classification of chromosome 12, position 32608103, gene FGD4 (FYVE, RhoGEF and PH domain containing 4): benign or pathogenic? Disease(s) if pathogenic? | benign | TTGACCTTAGGAAACGCTCCTAAATTATCTGAGCCACAGTTTCTTCATGTAAAATATTTGGGATCAGTAATACTTTCCTTGATGTACGTAATAGATTTTGGGAAAACCCAATGAGATATTTAAATTTATATAATTAATATCTTAAACTTTATTAAGGAAAGCTATTCTCTCAGCTTCTATGCCAATTTCAGGCCCTTATTATTTTCTTCCTGGTCTATAATAACAACTTCCAAACTAGTTTCCCCCGTCCCCCTAAAGCCACACTGCAGTAGATTAATCTAATAGAGCTCAGATCTAATGATACAACTGTCATGCACAAA... | TTGACCTTAGGAAACGCTCCTAAATTATCTGAGCCACAGTTTCTTCATGTAAAATATTTGGGATCAGTAATACTTTCCTTGATGTACGTAATAGATTTTGGGAAAACCCAATGAGATATTTAAATTTATATAATTAATATCTTAAACTTTATTAAGGAAAGCTATTCTCTCAGCTTCTATGCCAATTTCAGGCCCTTATTATTTTCTTCCTGGTCTATAATAACAACTTCCAAACTAGTTTCCCCCGTCCCCCTAAAGCCACACTGCAGTAGATTAATCTAATAGAGCTCAGATCTAATGATACAACTGTCATGCACAAA... | benign | 194,260 |
Determine if the mutation at chromosome 12, position 32619753 in gene FGD4 (FYVE, RhoGEF and PH domain containing 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | CTTCTTTTTTCAGTATCTGGGGAAACCCAAAGAGAAGTAATTATTTGTGAAAGGTGGTGGTGGCTTTTGCTACAGGAACAAGGTTCATGGAGGGAACAGGGCTAGCTACTTGGTTTCTTCCTATATATGACATAATCTTCTTTGTAAGCAATGTTTTCTATCGTGCGGGAGCTCCCACCTTCACCTATGCGAAGAGGAAAAGGATATTTATTGACTAGCATCATATTGTGATCAGAACTATTTTAAGATTCATATAGGATTTTTGACAGTTTAGAATGTGAAGTCCCATTTAGGGAGAATATAATAGAGGGGATGTAGTC... | CTTCTTTTTTCAGTATCTGGGGAAACCCAAAGAGAAGTAATTATTTGTGAAAGGTGGTGGTGGCTTTTGCTACAGGAACAAGGTTCATGGAGGGAACAGGGCTAGCTACTTGGTTTCTTCCTATATATGACATAATCTTCTTTGTAAGCAATGTTTTCTATCGTGCGGGAGCTCCCACCTTCACCTATGCGAAGAGGAAAAGGATATTTATTGACTAGCATCATATTGTGATCAGAACTATTTTAAGATTCATATAGGATTTTTGACAGTTTAGAATGTGAAGTCCCATTTAGGGAGAATATAATAGAGGGGATGTAGTC... | pathogenic | 194,268 |
The mutation in gene FGD4 (FYVE, RhoGEF and PH domain containing 4) at chromosome 12, position 32633660—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | CTTCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGGGCTTCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGTGATTGCAAGCATGAGCCACCATGTCTGGCCCAAACAGCTTTTTTATCAGGGTAAGACTTTTAAAAATCTGTCACTGAGTTTGATTGAAATGATTTTTGATATTGGCATACTTGCCTTCAGTAAGCAAAGAAAAAATGTGTTTGCATGTGCATTGTCAA... | CTTCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGGGCTTCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGTGATTGCAAGCATGAGCCACCATGTCTGGCCCAAACAGCTTTTTTATCAGGGTAAGACTTTTAAAAATCTGTCACTGAGTTTGATTGAAATGATTTTTGATATTGGCATACTTGCCTTCAGTAAGCAAAGAAAAAATGTGTTTGCATGTGCATTGTCAA... | pathogenic | 194,290 |
Variant at chromosome 12, position 32633660, gene FGD4 (FYVE, RhoGEF and PH domain containing 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4H'] | CTTCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGGGCTTCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGTGATTGCAAGCATGAGCCACCATGTCTGGCCCAAACAGCTTTTTTATCAGGGTAAGACTTTTAAAAATCTGTCACTGAGTTTGATTGAAATGATTTTTGATATTGGCATACTTGCCTTCAGTAAGCAAAGAAAAAATGTGTTTGCATGTGCATTGTCAA... | CTTCTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGGGCTTCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGTGATTGCAAGCATGAGCCACCATGTCTGGCCCAAACAGCTTTTTTATCAGGGTAAGACTTTTAAAAATCTGTCACTGAGTTTGATTGAAATGATTTTTGATATTGGCATACTTGCCTTCAGTAAGCAAAGAAAAAATGTGTTTGCATGTGCATTGTCAA... | pathogenic | 194,291 |
Does the chromosome 12 mutation at position 32737163 within gene DNM1L (dynamin 1 like) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAGTTCTGTTACACTGACAAGGTCATATGTGATATGATTTCAGATTAGTATTTTTCTACAAATGAATAGGTTTCTGGTTTTAATGACTGTGCCAGAGAACTTTATGTGGATATTTTCATTTAATCTTTACCATACCCTGAGGGCAGATCATGTCATTAACAGATTAGGACACTAGGGCTTCAAAATAGTTGGTAAGCTGTCCAGTTAGCAAAGCAGGTACTCCACATCTGCTGGGGTCCAGGAGCAGCTCAGATCATAACTGGTTAGTAACAGACTAGGGTGAGAATTCTAGATACCGTGGCCTTTTGCTTTGTATCCCT... | TAGTTCTGTTACACTGACAAGGTCATATGTGATATGATTTCAGATTAGTATTTTTCTACAAATGAATAGGTTTCTGGTTTTAATGACTGTGCCAGAGAACTTTATGTGGATATTTTCATTTAATCTTTACCATACCCTGAGGGCAGATCATGTCATTAACAGATTAGGACACTAGGGCTTCAAAATAGTTGGTAAGCTGTCCAGTTAGCAAAGCAGGTACTCCACATCTGCTGGGGTCCAGGAGCAGCTCAGATCATAACTGGTTAGTAACAGACTAGGGTGAGAATTCTAGATACCGTGGCCTTTTGCTTTGTATCCCT... | benign | 194,366 |
Variant on chromosome 12, at position 32737169, affecting DNM1L (dynamin 1 like): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGTTACACTGACAAGGTCATATGTGATATGATTTCAGATTAGTATTTTTCTACAAATGAATAGGTTTCTGGTTTTAATGACTGTGCCAGAGAACTTTATGTGGATATTTTCATTTAATCTTTACCATACCCTGAGGGCAGATCATGTCATTAACAGATTAGGACACTAGGGCTTCAAAATAGTTGGTAAGCTGTCCAGTTAGCAAAGCAGGTACTCCACATCTGCTGGGGTCCAGGAGCAGCTCAGATCATAACTGGTTAGTAACAGACTAGGGTGAGAATTCTAGATACCGTGGCCTTTTGCTTTGTATCCCTGTTCAA... | TGTTACACTGACAAGGTCATATGTGATATGATTTCAGATTAGTATTTTTCTACAAATGAATAGGTTTCTGGTTTTAATGACTGTGCCAGAGAACTTTATGTGGATATTTTCATTTAATCTTTACCATACCCTGAGGGCAGATCATGTCATTAACAGATTAGGACACTAGGGCTTCAAAATAGTTGGTAAGCTGTCCAGTTAGCAAAGCAGGTACTCCACATCTGCTGGGGTCCAGGAGCAGCTCAGATCATAACTGGTTAGTAACAGACTAGGGTGAGAATTCTAGATACCGTGGCCTTTTGCTTTGTATCCCTGTTCAA... | benign | 194,367 |
Assess the variant on chromosome 12, position 32737861, impacting DNM1L (dynamin 1 like): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATTTCAACAAAAAACAAAAACAAAATCATTGTGAGGCTTTAACTTATATTTTTTTGCAAGTTGGACTGTGTTCATGAAATACTTCCTACTTAGGAGCAATTGTGACTTTAACCTAAATAGTTTCTACTTTATCTGATGCTGCCTGTGAGAGATCCATCATTAATTAACATCTACAGATTTCTATATCTTCATAATCTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGC... | GTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATTTCAACAAAAAACAAAAACAAAATCATTGTGAGGCTTTAACTTATATTTTTTTGCAAGTTGGACTGTGTTCATGAAATACTTCCTACTTAGGAGCAATTGTGACTTTAACCTAAATAGTTTCTACTTTATCTGATGCTGCCTGTGAGAGATCCATCATTAATTAACATCTACAGATTTCTATATCTTCATAATCTTTTTTTTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGC... | benign | 194,371 |
Is the genetic change at chromosome 12, position 32740054, within gene DNM1L (dynamin 1 like) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAACAATACACTGAATAGAAGAATATTAATATGGGATACTGTGCTAAGGTCAGATCACTTTAGTCTAATATATATTTTAAAATTATATAACAATGCAATGCATAGTTTATATTGTTGACATGCTTTTGCTTGCAATATAGAAGATGCACACAGAAAAAGTAATTTAAAGAGGAAATTATCCTGCACTTTTTGAATTTCAACCCATTGGTATTTAAATTTTGCTTGTTAAATTGCATGTTTTAACATATCTTTTAACAGTTAATTCAGGACAGCAGAAGAGAAACTAAAAATGTGAGTCTCTTGCTTCAGAATGGAAATGT... | AAACAATACACTGAATAGAAGAATATTAATATGGGATACTGTGCTAAGGTCAGATCACTTTAGTCTAATATATATTTTAAAATTATATAACAATGCAATGCATAGTTTATATTGTTGACATGCTTTTGCTTGCAATATAGAAGATGCACACAGAAAAAGTAATTTAAAGAGGAAATTATCCTGCACTTTTTGAATTTCAACCCATTGGTATTTAAATTTTGCTTGTTAAATTGCATGTTTTAACATATCTTTTAACAGTTAATTCAGGACAGCAGAAGAGAAACTAAAAATGTGAGTCTCTTGCTTCAGAATGGAAATGT... | benign | 194,376 |
Considering the genetic mutation at chromosome 12, position 32740389, impacting DNM1L (dynamin 1 like): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCACTGAAACACTGTCTATACCACCATTAAAGAACCTGTTTGTGTAGTGGTATCTATCTCTTGTCTGTGTTATGTTCTTAATGTTCCTTTTATCTAACCTGTGGAAGATGGCATTAAACGTTGTTTTAATTAGTAACAATAATAGGCTTTCTCACTGTTTTGTTACCTTCAAGAATAGTTTTAAATTTAGTATTTTGGTAGGAAATTCAGAGATTTCCTAGATTTCAGAGATGGAATTGTATTTTTGGACATTTCCTTTCCTCTTTAAAGATCTTGAGATCTGTTCAGTACTAATAGATCTAATGCTTCTTTCTTATGCT... | TCACTGAAACACTGTCTATACCACCATTAAAGAACCTGTTTGTGTAGTGGTATCTATCTCTTGTCTGTGTTATGTTCTTAATGTTCCTTTTATCTAACCTGTGGAAGATGGCATTAAACGTTGTTTTAATTAGTAACAATAATAGGCTTTCTCACTGTTTTGTTACCTTCAAGAATAGTTTTAAATTTAGTATTTTGGTAGGAAATTCAGAGATTTCCTAGATTTCAGAGATGGAATTGTATTTTTGGACATTTCCTTTCCTCTTTAAAGATCTTGAGATCTGTTCAGTACTAATAGATCTAATGCTTCTTTCTTATGCT... | benign | 194,379 |
The chromosome 12, position 32754022 genetic variant in gene YARS2 (tyrosyl-tRNA synthetase 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | CGTTATCACTGCCTTCAGTATTTAGTACAGTAATGTGCTGTATGTGCTTCTACCCTGGGAGCAACAGGGTACACTGTATAGCCTAAGTGTGTAGTAGGCTATGCTATCTATGTTTGTGCAGGGACACTCTACGATATTTGCAATGATGAAATCACCTAACAACACACTTCCCAGAATGTATCCCTATTGTTAAGTGATATATGACTATAATATCATCCTATATGTATTCTCTTTTTCTTTGGTGAAATATATATAACACACAGAAAAAAGTACATTATTCACAAAGATATAGCTTAATGAATCATAAAACATCTATGTAA... | CGTTATCACTGCCTTCAGTATTTAGTACAGTAATGTGCTGTATGTGCTTCTACCCTGGGAGCAACAGGGTACACTGTATAGCCTAAGTGTGTAGTAGGCTATGCTATCTATGTTTGTGCAGGGACACTCTACGATATTTGCAATGATGAAATCACCTAACAACACACTTCCCAGAATGTATCCCTATTGTTAAGTGATATATGACTATAATATCATCCTATATGTATTCTCTTTTTCTTTGGTGAAATATATATAACACACAGAAAAAAGTACATTATTCACAAAGATATAGCTTAATGAATCATAAAACATCTATGTAA... | pathogenic | 194,412 |
Gene mutation in PKP2 (plakophilin 2) at chromosome 12, position 32792375—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCAAAACTGTTCATTCACAGAAGAACCTCCCTGAGAGGTGTTCACAAATTGTAAAGTAGTGAGGTGTTTGCAAACAGAGTGAACAAAGCAGCACATGGAAATCAAACGTAGTCTGTCTTTTCACAGTCACAGAATCACCCAATAATATACTAAAATCTAACCGCAGCTAACACGTCTGCATGTGTCTTCATTTTTATGGTCAGGTCACCATCTAGTCCCACCATTCTCACAGGAAATGTCTCTTGGTAAAAATTTAGGATTTTAATTAAGGGGAAAATATAACTAATTACAAAGTATCAAACCCTTAGTAATTGAAGTTT... | TCAAAACTGTTCATTCACAGAAGAACCTCCCTGAGAGGTGTTCACAAATTGTAAAGTAGTGAGGTGTTTGCAAACAGAGTGAACAAAGCAGCACATGGAAATCAAACGTAGTCTGTCTTTTCACAGTCACAGAATCACCCAATAATATACTAAAATCTAACCGCAGCTAACACGTCTGCATGTGTCTTCATTTTTATGGTCAGGTCACCATCTAGTCCCACCATTCTCACAGGAAATGTCTCTTGGTAAAAATTTAGGATTTTAATTAAGGGGAAAATATAACTAATTACAAAGTATCAAACCCTTAGTAATTGAAGTTT... | benign | 194,433 |
The genetic variant at chromosome 12, position 32792602, affecting gene PKP2 (plakophilin 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia'] | CACAGGAAATGTCTCTTGGTAAAAATTTAGGATTTTAATTAAGGGGAAAATATAACTAATTACAAAGTATCAAACCCTTAGTAATTGAAGTTTATAAGGTTAAATCCTCAAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTG... | CACAGGAAATGTCTCTTGGTAAAAATTTAGGATTTTAATTAAGGGGAAAATATAACTAATTACAAAGTATCAAACCCTTAGTAATTGAAGTTTATAAGGTTAAATCCTCAAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTG... | pathogenic | 194,440 |
Gene mutation in PKP2 (plakophilin 2) at chromosome 12, position 32792666—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_9'] | AAGTATCAAACCCTTAGTAATTGAAGTTTATAAGGTTAAATCCTCAAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTGGAAAAAGACATATAAATTCTCTCCAGTATTTTAAAAATTGGTATCTAAATAATTTCATTTTGAA... | AAGTATCAAACCCTTAGTAATTGAAGTTTATAAGGTTAAATCCTCAAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTGGAAAAAGACATATAAATTCTCTCCAGTATTTTAAAAATTGGTATCTAAATAATTTCATTTTGAA... | pathogenic | 194,442 |
Is the variant located on chromosome 12 at position 32792711, gene PKP2 (plakophilin 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia', 'Ventricular_tachycardia'] | AAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTGGAAAAAGACATATAAATTCTCTCCAGTATTTTAAAAATTGGTATCTAAATAATTTCATTTTGAACTAGGTTAGCAACCTAAGTTGTCTTCATTCAGCTTTTAAAATTGA... | AAATTTTATGTCAATCATACCATATATTCCAAGATACACAAATAAACCAGATATACACAGACGCCAATGCAAGCAACACTACTTTGGTCTCATTTTGTATTTAATATTATCGAAGGCTTTATTAATGCCTTAAAAAACACAAAAAGTTCTGAACACACATTTATTATCTGGAGGAATAAATGCACTCCAAATGCTTATCATCAGAACTCTGGAAAAAGACATATAAATTCTCTCCAGTATTTTAAAAATTGGTATCTAAATAATTTCATTTTGAACTAGGTTAGCAACCTAAGTTGTCTTCATTCAGCTTTTAAAATTGA... | pathogenic | 194,449 |
Clinical significance of chromosome 12, position 32796095, gene PKP2 (plakophilin 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAA... | TAAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAA... | benign | 194,457 |
Regarding the variant at chromosome 12 and position 32796095, affecting gene PKP2 (plakophilin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TAAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAA... | TAAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAA... | benign | 194,458 |
Variant in gene PKP2 (plakophilin 2), located at chromosome 12 position 32796096: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAA... | AAACATAAAACCAAAACCAGAGAGTGCAAAGATGTACGGAGAAGAGCATGGTGTGTTCCTTCAAGAGTGAAAAGTCTTTCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAA... | benign | 194,459 |
Considering the genetic mutation at chromosome 12, position 32796174, impacting PKP2 (plakophilin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype'] | TCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACAC... | TCTCCTCCATACTAGCCTGGCAGGGAGGAGCAGTCAAATCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACAC... | pathogenic | 194,469 |
A genetic variant at chromosome 12, position 32796218, affecting gene PKP2 (plakophilin 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic | CTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGG... | CTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGG... | pathogenic | 194,475 |
Does the genetic variant at chromosome 12, position 32796260, impacting gene PKP2 (plakophilin 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9'] | ACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTA... | ACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTA... | pathogenic | 194,479 |
Chromosome 12, position 32796284, gene PKP2 (plakophilin 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiovascular_phenotype', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia'] | AAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTT... | AAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTT... | pathogenic | 194,480 |
Clinical significance of chromosome 12, position 32796308, gene PKP2 (plakophilin 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAA... | AACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAA... | benign | 194,486 |
Clinical significance of chromosome 12, position 32796308, gene PKP2 (plakophilin 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAA... | AACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAA... | benign | 194,487 |
Variant on chromosome 12, at position 32796317, affecting PKP2 (plakophilin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAAAGTAATTGC... | AAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAAAGTAATTGC... | benign | 194,489 |
Is the genetic variant on chromosome 12, position 32796318, gene PKP2 (plakophilin 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAAAGTAATTGCA... | AGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAGACAGGGCATGTGAGGACTCACAAGTGGACACTCGGAAATAAACAAGTAACAGAGTAGCTCACCCCTTATCTTGCTAAGCTACCAGAAGTTTCCAAAAGTAATTGCA... | benign | 194,490 |
A genetic variant on chromosome 12, position 32802420, affects the gene PKP2 (plakophilin 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy'] | GGCACTGAATGATATGTCATCATAATACCTGGACCTGATTGACAGGTAAGACATACCTTTTGCTCACAGGCCTGAACACTTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCA... | GGCACTGAATGATATGTCATCATAATACCTGGACCTGATTGACAGGTAAGACATACCTTTTGCTCACAGGCCTGAACACTTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCA... | pathogenic | 194,494 |
Evaluate this variant at chromosome 12, position 32802427, gene PKP2 (plakophilin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy'] | AATGATATGTCATCATAATACCTGGACCTGATTGACAGGTAAGACATACCTTTTGCTCACAGGCCTGAACACTTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTA... | AATGATATGTCATCATAATACCTGGACCTGATTGACAGGTAAGACATACCTTTTGCTCACAGGCCTGAACACTTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTA... | pathogenic | 194,495 |
A genetic alteration at chromosome 12, position 32802499, in gene PKP2 (plakophilin 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9'] | TTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTAAGCTCTCAGTGGATGCTATTATCAGAAGTCTCCCTCCTTTTAGTAAGTTAAACTACAGAATGAAAGGCCTTG... | TTTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTAAGCTCTCAGTGGATGCTATTATCAGAAGTCTCCCTCCTTTTAGTAAGTTAAACTACAGAATGAAAGGCCTTG... | pathogenic | 194,498 |
Determine whether the variant at chromosome 12, position 32802500, in gene PKP2 (plakophilin 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy', 'Cardiovascular_phenotype', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia', 'PKP2-related_disorder'] | TTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTAAGCTCTCAGTGGATGCTATTATCAGAAGTCTCCCTCCTTTTAGTAAGTTAAACTACAGAATGAAAGGCCTTGA... | TTCCTTTTGACTGTGGTTCAAGCACACAGCATACTGTGGAGAGCTCAGCGTTCATCTAAAGCCAGAGTGCTGTAGTTTCAGTCCTGGTTCTGCTACTTTACAGCTCTATGGCCTGAGCAAGCTACTTAATGTCTCTATTTGTTTTTCCCTAAGTTGCAATGTGGGATAATAATGTCTACGTCACAGGGTTGTTCTGAGGGAACGAGTCAATGCATGTTAATTGTATTGCAGTACTGCGCATGTGGTAAGCTCTCAGTGGATGCTATTATCAGAAGTCTCCCTCCTTTTAGTAAGTTAAACTACAGAATGAAAGGCCTTGA... | pathogenic | 194,500 |
Variant chromosome 12, position 32821400, gene PKP2 (plakophilin 2): benign or pathogenic? Disease(s)? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiomyopathy'] | GGCTTCATATTTGTCCCATGCTGCTAATGATTTTCTCTTATAAATCTCCAATCAAGTCCAATTCTAACAACCTTGGGTATGAATCAGTATCAGTTTAGTGTAAGCTTCCATTTAGGGATGGCCTATTAGGCCCCTTAGGTATGACTTGGGCTCTTTATGGACCTGGTACCTTAAATTTTTCCTAGTACTTTAAATTTCTGTTTTTCATCCCAGTAAGACTATTACCCAACACAGGGATTTGTCTTATTTACTGCTGTGTAACCTACACCATAACTGCTAGTGTCTGTTATGTAATATGCTCAAAAGAATGTTTGTTCAGC... | GGCTTCATATTTGTCCCATGCTGCTAATGATTTTCTCTTATAAATCTCCAATCAAGTCCAATTCTAACAACCTTGGGTATGAATCAGTATCAGTTTAGTGTAAGCTTCCATTTAGGGATGGCCTATTAGGCCCCTTAGGTATGACTTGGGCTCTTTATGGACCTGGTACCTTAAATTTTTCCTAGTACTTTAAATTTCTGTTTTTCATCCCAGTAAGACTATTACCCAACACAGGGATTTGTCTTATTTACTGCTGTGTAACCTACACCATAACTGCTAGTGTCTGTTATGTAATATGCTCAAAAGAATGTTTGTTCAGC... | pathogenic | 194,519 |
Classify the chromosome 12 variant at position 32821487 affecting gene PKP2 (plakophilin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_9', 'Cardiac_arrhythmia', 'Cardiomyopathy', 'Cardiovascular_phenotype'] | TATCAGTTTAGTGTAAGCTTCCATTTAGGGATGGCCTATTAGGCCCCTTAGGTATGACTTGGGCTCTTTATGGACCTGGTACCTTAAATTTTTCCTAGTACTTTAAATTTCTGTTTTTCATCCCAGTAAGACTATTACCCAACACAGGGATTTGTCTTATTTACTGCTGTGTAACCTACACCATAACTGCTAGTGTCTGTTATGTAATATGCTCAAAAGAATGTTTGTTCAGCAAATGAATGTAGGAACTAGGTAATACACTAATATTGAGAGATTAAGTGGCATAAATATCCCTGTATCCTCAGAAAAATGAAAGCACC... | TATCAGTTTAGTGTAAGCTTCCATTTAGGGATGGCCTATTAGGCCCCTTAGGTATGACTTGGGCTCTTTATGGACCTGGTACCTTAAATTTTTCCTAGTACTTTAAATTTCTGTTTTTCATCCCAGTAAGACTATTACCCAACACAGGGATTTGTCTTATTTACTGCTGTGTAACCTACACCATAACTGCTAGTGTCTGTTATGTAATATGCTCAAAAGAATGTTTGTTCAGCAAATGAATGTAGGAACTAGGTAATACACTAATATTGAGAGATTAAGTGGCATAAATATCCCTGTATCCTCAGAAAAATGAAAGCACC... | pathogenic | 194,527 |
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