question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the chromosome 11 mutation at position 95838148 within gene MTMR2 (myotubularin related protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4B1'] | TTGCACTGCATGAATGAAAACTCCCATTGTATATTGTAAGGCACATACCTGTGGTTTCATCCGTGGATTCCACCTTATGTAATATCCCACCCAGAGCTCTAGGTGGCGCATGCTGGCTACTGGATAAAGGACATGATTGGAATAGCTCCCATAGAGAGGATTAGTGAAGTCTTCCAGCTGGCTGTTTATGTAAGACCACAGTGACACAGTCCTTTTAGGAAGATTCTGTAGGCAGGAAAAATAGGTAAAGATTCTCCACCACATAAGCCATTTACACTTTAGATGAAATTTGTGAAGAAGTACTTTGTTGTCATTAAAAT... | TTGCACTGCATGAATGAAAACTCCCATTGTATATTGTAAGGCACATACCTGTGGTTTCATCCGTGGATTCCACCTTATGTAATATCCCACCCAGAGCTCTAGGTGGCGCATGCTGGCTACTGGATAAAGGACATGATTGGAATAGCTCCCATAGAGAGGATTAGTGAAGTCTTCCAGCTGGCTGTTTATGTAAGACCACAGTGACACAGTCCTTTTAGGAAGATTCTGTAGGCAGGAAAAATAGGTAAAGATTCTCCACCACATAAGCCATTTACACTTTAGATGAAATTTGTGAAGAAGTACTTTGTTGTCATTAAAAT... | pathogenic | 182,437 |
Is the genetic variant on chromosome 11, position 95844975, gene MTMR2 (myotubularin related protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4'] | GTACACTTTTTTTTTAATGGCCTGTGTGACAAAACGGGAAATATGTGTTAACTCTTTGCTACTGCATGTAGTATGGTAGGAGATAGCACTTTCTCATCATTTTTACTTGAAAGAAAAATTAATGTATGCATTGTGGTTAGAAAGACTTAAAGACTTTTTTTTTTTGAAAAGGTACAATGTGAATTATCACTGAAAGGAAAACAGCTGACAATATTTGTTGTCAATGAAAAAATTCAAGCTTTTGAGTGAAAACTCAATTTTTGGTGAACTTTTGCCCACCATAATGAGCTTAAAAATACTTGAAGGCTTTTCTGACAAAA... | GTACACTTTTTTTTTAATGGCCTGTGTGACAAAACGGGAAATATGTGTTAACTCTTTGCTACTGCATGTAGTATGGTAGGAGATAGCACTTTCTCATCATTTTTACTTGAAAGAAAAATTAATGTATGCATTGTGGTTAGAAAGACTTAAAGACTTTTTTTTTTTGAAAAGGTACAATGTGAATTATCACTGAAAGGAAAACAGCTGACAATATTTGTTGTCAATGAAAAAATTCAAGCTTTTGAGTGAAAACTCAATTTTTGGTGAACTTTTGCCCACCATAATGAGCTTAAAAATACTTGAAGGCTTTTCTGACAAAA... | pathogenic | 182,442 |
Variant on chromosome 11, at position 95850636, affecting MTMR2 (myotubularin related protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4B1'] | TGAATAAAATATTCTATCTCCTACCTAACTCGTGTAAAATTATACTTCTTAGAGCCCTAATAGAAACAAATTAGGAAAATACTGGAGCAGTAAATTATACAAAATTAAGTGATTATATGACCCACACCTTTGAAACAACAAAACCACCAACTCATAACCAGCAACAAACTACTGAAAGAACAGAAGTTCAGCTTCCTTTCTGACACTGAGAGTCTGGGAAATCGTTTGGCACAATTATAGAATTTACAGTATTTCAAGGGATACCTGTTAAAGATTACTTCTGAAGAGTGGGAATAAGACAGGAACTTTCAATTCAAATT... | TGAATAAAATATTCTATCTCCTACCTAACTCGTGTAAAATTATACTTCTTAGAGCCCTAATAGAAACAAATTAGGAAAATACTGGAGCAGTAAATTATACAAAATTAAGTGATTATATGACCCACACCTTTGAAACAACAAAACCACCAACTCATAACCAGCAACAAACTACTGAAAGAACAGAAGTTCAGCTTCCTTTCTGACACTGAGAGTCTGGGAAATCGTTTGGCACAATTATAGAATTTACAGTATTTCAAGGGATACCTGTTAAAGATTACTTCTGAAGAGTGGGAATAAGACAGGAACTTTCAATTCAAATT... | pathogenic | 182,450 |
The mutation in gene MTMR2 (myotubularin related protein 2) at chromosome 11, position 95861994—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4', 'Charcot-Marie-Tooth_disease_type_4B1'] | TACTCAGAATCATTCTGTTAACCACAGAGTTCTCTGAAAGTACCATGTCAGGGGCCCTACAAATATTTTTGTTTATTGATAACGATCCTGTTCCATGGAAAGAAATTATATTTAAAATGATTAAGATTCAAAATTATCTTCTTTCACATCGTCTTATATTCTATGCACTACTTACTCTTAAACTACAGAAAAGTGATCAGGAAACAGTGTGCTTGACACATGGTTGCCAGCGATTACACTCACAGAGCCCTTCTGACTATAATGGAAAACCACAGGCCAGGCACAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGG... | TACTCAGAATCATTCTGTTAACCACAGAGTTCTCTGAAAGTACCATGTCAGGGGCCCTACAAATATTTTTGTTTATTGATAACGATCCTGTTCCATGGAAAGAAATTATATTTAAAATGATTAAGATTCAAAATTATCTTCTTTCACATCGTCTTATATTCTATGCACTACTTACTCTTAAACTACAGAAAAGTGATCAGGAAACAGTGTGCTTGACACATGGTTGCCAGCGATTACACTCACAGAGCCCTTCTGACTATAATGGAAAACCACAGGCCAGGCACAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGG... | pathogenic | 182,459 |
Variant in gene MTMR2 (myotubularin related protein 2), located at chromosome 11 position 95882497: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGTGGGACTTTCTACATTAGTAAAACTGGAACTGCTAAGAAGAATGAGCATTTGTAGATATTGCTATATTTCTCTCTACTGTGGCTGTTTCAGCACTGTATGAGAATTCCCACTGCCCCACTTTTCAAACAATCCTTGGTATTATCAGACTTGTTAATTGTTTTGATCTGATGAATGTGAAATAAGTTTTCTCAGTTGCTTTAAAAATGACATATCCCTGATTCCCTGATTATAGTGAGGTTTAACATTTTAAAATATATTGGTTAAACATTATGTATATATTTTTCCTTGAATTTCTTGTTCATAGACTTTCTCAACTT... | TGTGGGACTTTCTACATTAGTAAAACTGGAACTGCTAAGAAGAATGAGCATTTGTAGATATTGCTATATTTCTCTCTACTGTGGCTGTTTCAGCACTGTATGAGAATTCCCACTGCCCCACTTTTCAAACAATCCTTGGTATTATCAGACTTGTTAATTGTTTTGATCTGATGAATGTGAAATAAGTTTTCTCAGTTGCTTTAAAAATGACATATCCCTGATTCCCTGATTATAGTGAGGTTTAACATTTTAAAATATATTGGTTAAACATTATGTATATATTTTTCCTTGAATTTCTTGTTCATAGACTTTCTCAACTT... | benign | 182,470 |
Determine if the mutation at chromosome 11, position 101453125 in gene TRPC6 (transient receptor potential cation channel subfamily C member 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGTCAAGTCAATCCAACTTAAAAGACACTGAGGAATCTGAATATCTTTTCTTGAGTCTTCT... | TGCCTGTAATGAAGCTCTTATCAGAATTTTAAAAGCTTTCTTAAAATGCGTTTAATTTCCTTTTTCATCTTCCAACTTAGAAGAAATGCCAATTATTCTAAGTTGGAAGATGAAATTCGAAGAGATGTCAATTCAGTTGCACTTTGATGAAAATCTGACTTCAGGACATTAGTTTGAACCATAAGAGCCACCAGGAGGGTAGTGCCTTTTGCTGAGGAACCCACAGTCATGCCTGTTGAGTTTCCCAAAACTTATATCTTGTCAAGTCAATCCAACTTAAAAGACACTGAGGAATCTGAATATCTTTTCTTGAGTCTTCT... | benign | 182,509 |
A mutation at chromosome position 101488918 on chromosome 11 in gene TRPC6 (transient receptor potential cation channel subfamily C member 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGGAAAACTGTAAAATAGATTTTATCATCATGCTTCAAAGATAAAAACAGTAAAATAGGTTTTGGATAGGAGAAAAAAAATACCTTGACAATGTCCTTTTAATTTGATTATTTGCCTCAATGTTCATAAACAAGGATGGAAAACAGATGCCAGAAAGACATATGGCCAGGGAAGAAGAAATAGTAAAGGAAATCAGTTTAATTAGAATTCAATCAAAATTTAAGAAATGTGTAACTCTAAGGATTGCCAAAAATAGTCTGTGTCAAAGCACCAGACACTCTGGAATACATTATGCTTTCGAACACACTGGTTATGGAAAA... | TGGAAAACTGTAAAATAGATTTTATCATCATGCTTCAAAGATAAAAACAGTAAAATAGGTTTTGGATAGGAGAAAAAAAATACCTTGACAATGTCCTTTTAATTTGATTATTTGCCTCAATGTTCATAAACAAGGATGGAAAACAGATGCCAGAAAGACATATGGCCAGGGAAGAAGAAATAGTAAAGGAAATCAGTTTAATTAGAATTCAATCAAAATTTAAGAAATGTGTAACTCTAAGGATTGCCAAAAATAGTCTGTGTCAAAGCACCAGACACTCTGGAATACATTATGCTTTCGAACACACTGGTTATGGAAAA... | benign | 182,531 |
Mutation found at chromosome 11 position 101504704, gene TRPC6 (transient receptor potential cation channel subfamily C member 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAGCGAAAAGTAGGTAAGAATCTGAGACAGGGTTAGAAGGACCATTTACTTGTCTTGCCCTGTTAGCTGCCAGGTAGCTGGAGGAAAAGCACCTTCCTCTACCTTGGGAGCCAAGCACATACTGAGCGTTTCAGTAACCATTTTCCTCCTTCTAGCCTTTCTGGATAGACTGGACCTGAGGATAGATAGACACATGACATCTGATACTGGGGTGAAACATCAGTGACAGTGGCACCAAGAAGCTGCCCAGGAAAGACTGGGCTGTAATCCCTCAAGAAAAGAGTATAGAAACAAGCATTCTCTCAGCATATAGAAAAAAA... | AAGCGAAAAGTAGGTAAGAATCTGAGACAGGGTTAGAAGGACCATTTACTTGTCTTGCCCTGTTAGCTGCCAGGTAGCTGGAGGAAAAGCACCTTCCTCTACCTTGGGAGCCAAGCACATACTGAGCGTTTCAGTAACCATTTTCCTCCTTCTAGCCTTTCTGGATAGACTGGACCTGAGGATAGATAGACACATGACATCTGATACTGGGGTGAAACATCAGTGACAGTGGCACCAAGAAGCTGCCCAGGAAAGACTGGGCTGTAATCCCTCAAGAAAAGAGTATAGAAACAAGCATTCTCTCAGCATATAGAAAAAAA... | benign | 182,547 |
Mutation at chromosome 11, position 102058885, within CFAP300 (cilia and flagella associated protein 300): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['CFAP300-related_disorder', 'Ciliary_dyskinesia,_primary,_38', 'Primary_ciliary_dyskinesia'] | CTGATCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTCCTGGGATTACAGGCCTGAGCCACCGCACCTGGCCCTATTTTTATTTTTTATATGCCTATTTTTATCCTTTGCTGACATGTGCCACCCTCAAACCTTGTGATGATGTCAGCACATTACCCTTCTGACATGAGAAAAGAAAAATAATTATAAAATAAAAAAGAGCTAGCCTGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGTCAGATCACCCAAGGTCAGGAGTTCAAGACTAGCCTAGCCAACATG... | CTGATCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAAAGTCCTGGGATTACAGGCCTGAGCCACCGCACCTGGCCCTATTTTTATTTTTTATATGCCTATTTTTATCCTTTGCTGACATGTGCCACCCTCAAACCTTGTGATGATGTCAGCACATTACCCTTCTGACATGAGAAAAGAAAAATAATTATAAAATAAAAAAGAGCTAGCCTGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGTCAGATCACCCAAGGTCAGGAGTTCAAGACTAGCCTAGCCAACATG... | pathogenic | 182,567 |
A genetic alteration at chromosome 11, position 102943268, in gene MMP13 (matrix metallopeptidase 13)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TATTTTCTGTGACCAGGGCTTAATCCACTCCTGTTGGCTCCGAGAAAACTGTGCGTGCAGAGAGCTGCACTTTTTTTTCTAAACGGGAAGTGAGTTAAACTTGGTAGCTTTTATGGTGGCTATCTTTCTGTTATATATGTTTTCGTGTTTTTATTCTGACATGAGGATATGGAAATCCAGGACAATATTTTTGCTTTAATACAAAAGTTCTCCCAGGATAATTCCAAGAGCAAAATTTGTTACACCAATATAAGATCTTGTCAGTTTCTCCTATTCCAAATACAAGTATGCTATTGGTTCACTTTGAGGAGTTTTTCAAA... | TATTTTCTGTGACCAGGGCTTAATCCACTCCTGTTGGCTCCGAGAAAACTGTGCGTGCAGAGAGCTGCACTTTTTTTTCTAAACGGGAAGTGAGTTAAACTTGGTAGCTTTTATGGTGGCTATCTTTCTGTTATATATGTTTTCGTGTTTTTATTCTGACATGAGGATATGGAAATCCAGGACAATATTTTTGCTTTAATACAAAAGTTCTCCCAGGATAATTCCAAGAGCAAAATTTGTTACACCAATATAAGATCTTGTCAGTTTCTCCTATTCCAAATACAAGTATGCTATTGGTTCACTTTGAGGAGTTTTTCAAA... | benign | 182,662 |
Is the chromosome 11, position 103120677 variant in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCATTTTATGTCTAGCCAGCATGTATTTATCCTGATTTTCTCAGAAATTTGTAAATAGTTGGTTTACTTGAATGAGGTTGCAGACAAGGTGCACCCATTGTATTTGGTTGATAGGTCTCCTGAAACATTTTTAATTTAAAAGTTTCCCCTTTTTTTATGCCATATGGCATTTCTCACCTTGCTATATCAGGACGTATGTGGTATTAGGTTTTCCCATTTTTAGTGCTGTTAAGTTTAATCTGTGAGGGTTCAGGTATGATCAGTCTGATGAATTTATTATAATGCTCTCCAACTTTTAAAAAATGCTTTTAGCAGTCATT... | TCATTTTATGTCTAGCCAGCATGTATTTATCCTGATTTTCTCAGAAATTTGTAAATAGTTGGTTTACTTGAATGAGGTTGCAGACAAGGTGCACCCATTGTATTTGGTTGATAGGTCTCCTGAAACATTTTTAATTTAAAAGTTTCCCCTTTTTTTATGCCATATGGCATTTCTCACCTTGCTATATCAGGACGTATGTGGTATTAGGTTTTCCCATTTTTAGTGCTGTTAAGTTTAATCTGTGAGGGTTCAGGTATGATCAGTCTGATGAATTTATTATAATGCTCTCCAACTTTTAAAAAATGCTTTTAGCAGTCATT... | benign | 182,710 |
Variant at chromosome 11, position 103121028, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TAATTCTGGTGTTTTTTCTGCTTTTATTAGTCATGACTTTTCTATAAGAAGAATTTTTTCTTCAACTTTTTGTTACTTTGAAATATAGTTTGCATAGAAACGGCAGTATAGATAATTGCTTATTTCTTTTTATCACTTTAGAACAATGAACATTAAGTAGATTAGTGTCATAGTAAGTTCCATTGGCAACCAATGAAATGTTTTTTGATAGTGTCATTATGAACCCATAAATTTTTGTATTTTATGTGTTTCAGTCCATTTTAGTTATTATTATTATTATACTCAATTTGTTCAGTTTTTGGGCAGAGAGTGCCCCTTCA... | TAATTCTGGTGTTTTTTCTGCTTTTATTAGTCATGACTTTTCTATAAGAAGAATTTTTTCTTCAACTTTTTGTTACTTTGAAATATAGTTTGCATAGAAACGGCAGTATAGATAATTGCTTATTTCTTTTTATCACTTTAGAACAATGAACATTAAGTAGATTAGTGTCATAGTAAGTTCCATTGGCAACCAATGAAATGTTTTTTGATAGTGTCATTATGAACCCATAAATTTTTGTATTTTATGTGTTTCAGTCCATTTTAGTTATTATTATTATTATACTCAATTTGTTCAGTTTTTGGGCAGAGAGTGCCCCTTCA... | pathogenic | 182,714 |
Clinically, how would you classify the variant at chromosome 11, position 103121037, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'DYNC2H1-related_disorder', 'Jeune_thoracic_dystrophy'] | TGTTTTTTCTGCTTTTATTAGTCATGACTTTTCTATAAGAAGAATTTTTTCTTCAACTTTTTGTTACTTTGAAATATAGTTTGCATAGAAACGGCAGTATAGATAATTGCTTATTTCTTTTTATCACTTTAGAACAATGAACATTAAGTAGATTAGTGTCATAGTAAGTTCCATTGGCAACCAATGAAATGTTTTTTGATAGTGTCATTATGAACCCATAAATTTTTGTATTTTATGTGTTTCAGTCCATTTTAGTTATTATTATTATTATACTCAATTTGTTCAGTTTTTGGGCAGAGAGTGCCCCTTCAAGTTGCCTC... | TGTTTTTTCTGCTTTTATTAGTCATGACTTTTCTATAAGAAGAATTTTTTCTTCAACTTTTTGTTACTTTGAAATATAGTTTGCATAGAAACGGCAGTATAGATAATTGCTTATTTCTTTTTATCACTTTAGAACAATGAACATTAAGTAGATTAGTGTCATAGTAAGTTCCATTGGCAACCAATGAAATGTTTTTTGATAGTGTCATTATGAACCCATAAATTTTTGTATTTTATGTGTTTCAGTCCATTTTAGTTATTATTATTATTATACTCAATTTGTTCAGTTTTTGGGCAGAGAGTGCCCCTTCAAGTTGCCTC... | pathogenic | 182,715 |
Evaluate if the mutation on chromosome 11 at position 103133640 in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | CCATGGTTTAAGATTAGGTGTGCTGGTGACAAATTTGCTTATCTTTCCTTTGTCTGATAATGTTTTCTTGTTTTCCTTTTCCCTCATTCCTGAAGGATATTTTAAATAGATATGAAATGCATATTTGACATTTTTTTTTTAGCACTTTAAACATTTTCCATGTCCTGCTGGCATCCATGATTTCAGCTGACAAACTACTGTCATTTGAATTTGTGTTCCTTTCTGAATAATGTATTGTATCTCTTTGGCTCCATTCAAGATTTCAAAGAATCTTTGTCTTTAGTTTTCAGAAGTTTAATTATTGTCTAGGAAAGCATAGA... | CCATGGTTTAAGATTAGGTGTGCTGGTGACAAATTTGCTTATCTTTCCTTTGTCTGATAATGTTTTCTTGTTTTCCTTTTCCCTCATTCCTGAAGGATATTTTAAATAGATATGAAATGCATATTTGACATTTTTTTTTTAGCACTTTAAACATTTTCCATGTCCTGCTGGCATCCATGATTTCAGCTGACAAACTACTGTCATTTGAATTTGTGTTCCTTTCTGAATAATGTATTGTATCTCTTTGGCTCCATTCAAGATTTCAAAGAATCTTTGTCTTTAGTTTTCAGAAGTTTAATTATTGTCTAGGAAAGCATAGA... | pathogenic | 182,731 |
Located at chromosome 11 position 103152175, the variant affecting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | AAGAGAGGCAAGGGCCAGATTACGAAGATGCTTTTAGAAATTGTAAGAAGTTCGTATTTTATTCTGAGTGTAATAAGAAAGTCTTTAGAGGGCTTTAAGTGGTGGAGTGACACAATGTCTCTGACATTTTGAAGTGATGACTCTAGATGCTCTGTGGAAAATGAATTGGAGGGAGACAATAGTGGTGGACAGGCCAGTTAGTAGGATATTACAATATGATAGACAAGAGATGATGGAAGCTTGTATCATGTAGTGGTAGTGGAGATAGAACTATATCTCCACTGATTGATGATGTATAGGGGTGGGTGTGGTTAGAGGAA... | AAGAGAGGCAAGGGCCAGATTACGAAGATGCTTTTAGAAATTGTAAGAAGTTCGTATTTTATTCTGAGTGTAATAAGAAAGTCTTTAGAGGGCTTTAAGTGGTGGAGTGACACAATGTCTCTGACATTTTGAAGTGATGACTCTAGATGCTCTGTGGAAAATGAATTGGAGGGAGACAATAGTGGTGGACAGGCCAGTTAGTAGGATATTACAATATGATAGACAAGAGATGATGGAAGCTTGTATCATGTAGTGGTAGTGGAGATAGAACTATATCTCCACTGATTGATGATGTATAGGGGTGGGTGTGGTTAGAGGAA... | pathogenic | 182,749 |
Assess the variant on chromosome 11, position 103153461, impacting DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy', 'Short_rib-polydactyly_syndrome'] | TGTCTGTTTTATTATATATGCATACTGATATTTAAAAATGTTTAAATGGATTTTATTGCTTTATTGAATAGTAAAAGTACAGATATTAATTATAGGATACTGTTGTTTTACAGAGCTTTAAAAGCCTTAGAGGCAATTCCAGCAGTTTAGCACCCATTGACCTACACCCAAACTGTTTAACAAACTGTTAGCTATATACAACTTAGGGCACTTCAGTTAAAAACCCTGAATGCATGAGCTTAATTTCACTTCTTTAGTTGTCTGTTTCTTAAGTACCTTTTTTCATGACTTTCCTTCTCTATTAAGTCGGATAATTTAGT... | TGTCTGTTTTATTATATATGCATACTGATATTTAAAAATGTTTAAATGGATTTTATTGCTTTATTGAATAGTAAAAGTACAGATATTAATTATAGGATACTGTTGTTTTACAGAGCTTTAAAAGCCTTAGAGGCAATTCCAGCAGTTTAGCACCCATTGACCTACACCCAAACTGTTTAACAAACTGTTAGCTATATACAACTTAGGGCACTTCAGTTAAAAACCCTGAATGCATGAGCTTAATTTCACTTCTTTAGTTGTCTGTTTCTTAAGTACCTTTTTTCATGACTTTCCTTCTCTATTAAGTCGGATAATTTAGT... | pathogenic | 182,753 |
Determine whether the variant at chromosome 11, position 103154500, in gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Jeune_thoracic_dystrophy'] | CACATGGTTTTTCTTTACTTCCTATCACACCAAGAAGAAACCAATGTCTTTGAAATGTAACATTATTTGTAGGCCTGTGAATGAATCTGTTGCTTACCTACTATGTATGGCTTATTGCTGAAACTCATGTTTTCTTTAATTACTAAATTTATTAGGATATCAGTTTAACTACTCTAATGGAGACCCCAAAAATTGTAGCTTATGTTTCTGTCTCACATTAGACTATAAGCTGCTATGGTGCCTCTGCTTCATAACTTTGTCTGGGTCCTAGGTTTTGTCAATCTTTTTGTCTACCATCTCTAGCGTATTGTCCAGGATGG... | CACATGGTTTTTCTTTACTTCCTATCACACCAAGAAGAAACCAATGTCTTTGAAATGTAACATTATTTGTAGGCCTGTGAATGAATCTGTTGCTTACCTACTATGTATGGCTTATTGCTGAAACTCATGTTTTCTTTAATTACTAAATTTATTAGGATATCAGTTTAACTACTCTAATGGAGACCCCAAAAATTGTAGCTTATGTTTCTGTCTCACATTAGACTATAAGCTGCTATGGTGCCTCTGCTTCATAACTTTGTCTGGGTCCTAGGTTTTGTCAATCTTTTTGTCTACCATCTCTAGCGTATTGTCCAGGATGG... | pathogenic | 182,755 |
Assess the variant on chromosome 11, position 103155311, impacting DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTACTCTGCATTAAATTATTTAAATTTTATTGGCTTATAGATTGAAGTGATGAAAGGAAATGTGAAATCACGTCTTCAGATCTATTATCAAGAACTGGAAAAATTTAAAGCTCGTTGGGACCAACTAAAGCCTGGTGATGATGTTATTGAAACTGGCCAACATAATACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTA... | TTACTCTGCATTAAATTATTTAAATTTTATTGGCTTATAGATTGAAGTGATGAAAGGAAATGTGAAATCACGTCTTCAGATCTATTATCAAGAACTGGAAAAATTTAAAGCTCGTTGGGACCAACTAAAGCCTGGTGATGATGTTATTGAAACTGGCCAACATAATACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTA... | benign | 182,758 |
Does the genetic variant at chromosome 11, position 103155311, impacting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTACTCTGCATTAAATTATTTAAATTTTATTGGCTTATAGATTGAAGTGATGAAAGGAAATGTGAAATCACGTCTTCAGATCTATTATCAAGAACTGGAAAAATTTAAAGCTCGTTGGGACCAACTAAAGCCTGGTGATGATGTTATTGAAACTGGCCAACATAATACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTA... | TTACTCTGCATTAAATTATTTAAATTTTATTGGCTTATAGATTGAAGTGATGAAAGGAAATGTGAAATCACGTCTTCAGATCTATTATCAAGAACTGGAAAAATTTAAAGCTCGTTGGGACCAACTAAAGCCTGGTGATGATGTTATTGAAACTGGCCAACATAATACTCTTGATAAAAGTGCAAAGTTAATAAAAGAGAAAAAAATTGAGTTTGATGATCTTGAAGTCACAAGAAAAAAGCTGGTGTATGTTTTTTCTTTAAAATTGATAGTGCTTATTTTGAAAAAACAATTTATATATCAAGCTAGTAATTTTCTTA... | benign | 182,759 |
The mutation impacting DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) on chromosome 11 at position 103165982: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TGGAACAGTTTACATTCTGAACCATTTTCTCATACATGCCATTTGTATCTTTTTTCATTTTAAGGCAAACTGAAATGTTTCAAAAAAGCTCAAATTCTTAGAGAAAAATATAAGTAATCATCACTGAATAACCAAAGCCATTGTAGAACCAGAGTAGACTGCTTTATTACCACTGAAAATGTTTCCTAGTACTCTGTCAACTTCCAGATAGGATTTATAAATCAACTTAGAATAAAAGACACAGTATACAAAAAGTCTACAAAAGCAATATTGTATAATATTTGGGTTAGGGAAATGACAATTGTGTTGGGAGATATAGT... | TGGAACAGTTTACATTCTGAACCATTTTCTCATACATGCCATTTGTATCTTTTTTCATTTTAAGGCAAACTGAAATGTTTCAAAAAAGCTCAAATTCTTAGAGAAAAATATAAGTAATCATCACTGAATAACCAAAGCCATTGTAGAACCAGAGTAGACTGCTTTATTACCACTGAAAATGTTTCCTAGTACTCTGTCAACTTCCAGATAGGATTTATAAATCAACTTAGAATAAAAGACACAGTATACAAAAAGTCTACAAAAGCAATATTGTATAATATTTGGGTTAGGGAAATGACAATTGTGTTGGGAGATATAGT... | pathogenic | 182,775 |
Variant in gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), located at chromosome 11 position 103173293: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'DYNC2H1-related_disorder', 'Jeune_thoracic_dystrophy'] | TCCTACTTTCATTATTCTTTTTTTTTGGGGGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAATAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTGATCATGTTGGCTAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCACCCCCCTCGGCCTCCCAAAATGCTGGGATTACTGGTGTGAGCCCCACACCCAGCCCATTATTCAT... | TCCTACTTTCATTATTCTTTTTTTTTGGGGGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAATAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTGATCATGTTGGCTAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCACCCCCCTCGGCCTCCCAAAATGCTGGGATTACTGGTGTGAGCCCCACACCCAGCCCATTATTCAT... | pathogenic | 182,792 |
Is the variant located on chromosome 11 at position 103174136, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TTCTAGGTAGCCCAAGAATGTAAGACCAGTTCTAAATTGTTAACATGTTGTTTATGTGATGTTTAAACTCTTCACAAAGAAAAAGAGAAGAAACTATTAAGTGAGAATTACCTGCCTTCAAGATTTAGTTTCTTCTACATTCACTTTTTTTTCTTCTCTTACAAAGAAAGAGTTGTCTTTTCTCCCAACCAGTACTAATCTTTTCACCTGTACTTTGGAATCCTCTTCCCTGGGACCTTATTATCCCTTGTGCTATAGCTTCAGTCTTCCCTCCTCTACCAATTCCTCATTAGGTTTTAAACATAATCACATCTTTTTCA... | TTCTAGGTAGCCCAAGAATGTAAGACCAGTTCTAAATTGTTAACATGTTGTTTATGTGATGTTTAAACTCTTCACAAAGAAAAAGAGAAGAAACTATTAAGTGAGAATTACCTGCCTTCAAGATTTAGTTTCTTCTACATTCACTTTTTTTTCTTCTCTTACAAAGAAAGAGTTGTCTTTTCTCCCAACCAGTACTAATCTTTTCACCTGTACTTTGGAATCCTCTTCCCTGGGACCTTATTATCCCTTGTGCTATAGCTTCAGTCTTCCCTCCTCTACCAATTCCTCATTAGGTTTTAAACATAATCACATCTTTTTCA... | pathogenic | 182,795 |
Gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) variant at chromosome 11, position 103176240—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Jeune_thoracic_dystrophy'] | ACATTAACTTATTTTTAAAAACATAAGCGTTAATTTAGAATAGTTTGAGATTTACAGAAAAGTTGTAGATACAATATTAAGGATTACTGTATACCCTGCCCCAATTTCTACTGTTGTTAACATCTTTCATTAGTGTGGTATATTTGTCACAACTAATGAATCAACTTTGATACATTGTTTTTAAACTAAATTTCCTACTTTATTCAGGTTTTCTCCAGTTTTTACCTGACGTCTTATAACTTTTAATGTGTGTTAAATATTAAATAGTTGTAATATGTAAAGTCCACTTGTTCTTTAACTTCAATGTCCATTGGAATCAC... | ACATTAACTTATTTTTAAAAACATAAGCGTTAATTTAGAATAGTTTGAGATTTACAGAAAAGTTGTAGATACAATATTAAGGATTACTGTATACCCTGCCCCAATTTCTACTGTTGTTAACATCTTTCATTAGTGTGGTATATTTGTCACAACTAATGAATCAACTTTGATACATTGTTTTTAAACTAAATTTCCTACTTTATTCAGGTTTTCTCCAGTTTTTACCTGACGTCTTATAACTTTTAATGTGTGTTAAATATTAAATAGTTGTAATATGTAAAGTCCACTTGTTCTTTAACTTCAATGTCCATTGGAATCAC... | pathogenic | 182,796 |
A genetic variant on chromosome 11, position 103176405, affects the gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Jeune_thoracic_dystrophy'] | TTTGATACATTGTTTTTAAACTAAATTTCCTACTTTATTCAGGTTTTCTCCAGTTTTTACCTGACGTCTTATAACTTTTAATGTGTGTTAAATATTAAATAGTTGTAATATGTAAAGTCCACTTGTTCTTTAACTTCAATGTCCATTGGAATCACCCAGTGGCTTGTTAAAACAGATTATTAGACCCCACCCCCAAAGGTCCTGATTCAGTAGGTGTAGAGTAGAGCCTGATAATTTGTCTTGTCTTGAAACAAGAACAGAAACCTTAGAAACACATGTAGGATTTTCTCTTTCTAAAGCTAGTATATTATGATTAGACT... | TTTGATACATTGTTTTTAAACTAAATTTCCTACTTTATTCAGGTTTTCTCCAGTTTTTACCTGACGTCTTATAACTTTTAATGTGTGTTAAATATTAAATAGTTGTAATATGTAAAGTCCACTTGTTCTTTAACTTCAATGTCCATTGGAATCACCCAGTGGCTTGTTAAAACAGATTATTAGACCCCACCCCCAAAGGTCCTGATTCAGTAGGTGTAGAGTAGAGCCTGATAATTTGTCTTGTCTTGAAACAAGAACAGAAACCTTAGAAACACATGTAGGATTTTCTCTTTCTAAAGCTAGTATATTATGATTAGACT... | pathogenic | 182,798 |
The genetic variant at chromosome 11, position 103184901, affecting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | ATTTGTTTTCGTTTTCTCAAACTTTTTCTTTTCTGACTTTGTAAGAATGAAAAATGGAGGAATAGGGATTTGTGAGGATAGCGATGCAAGTGAGGTGGGTTTTCCTGGAGGCCTAGGAAAGGGAACACTCCCATTAGCTCCTAGTCTGACTGAGCTGTCTCCTCCTTTGTGCTTCTGTAGCAACATACAGCATCTACCAACTATGTTATAATTGTCTGTTTACATTAAACTATAAGCACCTTGAAGGCAAGGACCAAGCTTATCACACTCTTCATTGTGTCCTCAGAACCAAGTATGATATTAAGTGATAGCAAATGAAT... | ATTTGTTTTCGTTTTCTCAAACTTTTTCTTTTCTGACTTTGTAAGAATGAAAAATGGAGGAATAGGGATTTGTGAGGATAGCGATGCAAGTGAGGTGGGTTTTCCTGGAGGCCTAGGAAAGGGAACACTCCCATTAGCTCCTAGTCTGACTGAGCTGTCTCCTCCTTTGTGCTTCTGTAGCAACATACAGCATCTACCAACTATGTTATAATTGTCTGTTTACATTAAACTATAAGCACCTTGAAGGCAAGGACCAAGCTTATCACACTCTTCATTGTGTCCTCAGAACCAAGTATGATATTAAGTGATAGCAAATGAAT... | pathogenic | 182,819 |
The genetic variant at chromosome 11, position 103187496, affecting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TAAATATTTTCTTTAATATATGTTAAAGTTGTATTACAGTCAAGTTGTTTATAAAGCTGAATTCTAAATAATAAGTGATTTTTTTTCCAATTGACCTCTACTGAAATTATTGGACATTTATTCCTTTGGGTTGGCTCTAACATTAACAGCTTTTTTTTCTCATTTTGCTGCTTCTTTGATAGTGTCATTTACTGCTTTCTCTATTCCGTCTCCCTTTCCATGGCTGTCCTGTTGCCTCTGTTGCCAGATGCTTCTCATTGTTACCACTCAGTGACATACTATATGCTGCTTTTAAGCACATACTCTCTTGTCAAAGTTCC... | TAAATATTTTCTTTAATATATGTTAAAGTTGTATTACAGTCAAGTTGTTTATAAAGCTGAATTCTAAATAATAAGTGATTTTTTTTCCAATTGACCTCTACTGAAATTATTGGACATTTATTCCTTTGGGTTGGCTCTAACATTAACAGCTTTTTTTTCTCATTTTGCTGCTTCTTTGATAGTGTCATTTACTGCTTTCTCTATTCCGTCTCCCTTTCCATGGCTGTCCTGTTGCCTCTGTTGCCAGATGCTTCTCATTGTTACCACTCAGTGACATACTATATGCTGCTTTTAAGCACATACTCTCTTGTCAAAGTTCC... | pathogenic | 182,830 |
Clinically, how would you classify the variant at chromosome 11, position 103200102, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TATTAAAAAGGTATAATATGAATCATTAATTGGAACTGGGATTTGGTCATTATAGTCTTTTAAAAATATTTATTGTAAATATTTAGAGGGCATGAATATGATAGATTGTAGAATAGGCAAAGCTGGTTCTTATCTTTTGGAATTTAGTCCATTGTGGCGGATGTAACGAGATGTGCCTGTACTTACATAGATATGTGTAAAATTGCTAAGATACATTTTGGGCAAAGGTATGTTGGAAATATTAATGAGGTTTAATATTAATCAGGAAATTACTCTGGAGCAGTGGTTGTCAAACTTTAGAGAGCATTAGAGTCATGTAG... | TATTAAAAAGGTATAATATGAATCATTAATTGGAACTGGGATTTGGTCATTATAGTCTTTTAAAAATATTTATTGTAAATATTTAGAGGGCATGAATATGATAGATTGTAGAATAGGCAAAGCTGGTTCTTATCTTTTGGAATTTAGTCCATTGTGGCGGATGTAACGAGATGTGCCTGTACTTACATAGATATGTGTAAAATTGCTAAGATACATTTTGGGCAAAGGTATGTTGGAAATATTAATGAGGTTTAATATTAATCAGGAAATTACTCTGGAGCAGTGGTTGTCAAACTTTAGAGAGCATTAGAGTCATGTAG... | pathogenic | 182,859 |
Evaluate the clinical significance of the mutation at chromosome 11, position 103209947 in gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | ACCATGGAATTTAAGTTGGTAAGGTGGTAAATTAGGATAGGAAGATGGTGAATGACAGTGAAGAGGTGGTCAAATTGGTAGATAGTAGGTTTCAGTGGAGTTTCAGGATTTTGATGTTGGAAGGGAGTAAGCTGGGAAGACAGGAATATAGTGATAGAAGAATGGGATGTTTGAAAGTGAGATTATGGAAGGATTTCACTTAGTGATAATTACAAAATCTCATGATTTGACTGTGTAGGTGAGTGGCTGACAAAAGGTTGGTGGCTAAGAGGAGAAGAGGCAACCAAGGAATTGAGACATGAGGGTATTAGAGGGATTAT... | ACCATGGAATTTAAGTTGGTAAGGTGGTAAATTAGGATAGGAAGATGGTGAATGACAGTGAAGAGGTGGTCAAATTGGTAGATAGTAGGTTTCAGTGGAGTTTCAGGATTTTGATGTTGGAAGGGAGTAAGCTGGGAAGACAGGAATATAGTGATAGAAGAATGGGATGTTTGAAAGTGAGATTATGGAAGGATTTCACTTAGTGATAATTACAAAATCTCATGATTTGACTGTGTAGGTGAGTGGCTGACAAAAGGTTGGTGGCTAAGAGGAGAAGAGGCAACCAAGGAATTGAGACATGAGGGTATTAGAGGGATTAT... | pathogenic | 182,866 |
For chromosome 11, position 103236478, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['DYNC2H1-related_disorder', 'Jeune_thoracic_dystrophy'] | GTACTCCTTAGAATTTTCTTTGAATTTACCTTCACCAGGACAGTAATTTTAGGATTTGACACTGTTGGCTATTTATTTTTTCTTGAAATATTTTATTATTTTGACTTTTTAGTGTTGTCTCTTGTTTTTTCTTGGTTTATTTCTGAAATCAGTTAAGCTTCCTTTCCTTTCCTGATCCTCCTCATCTGCTCATCCAGTAATGTTGATTGTCCTTGTTATTCTCTTCCACAGCAGCTTTTTCTGCAACTGCCTTGGGGGTTATCTCATCCCTTCATAATATCACCTACACCTTCATAATGACCAGAGCTACATTTCCAGAC... | GTACTCCTTAGAATTTTCTTTGAATTTACCTTCACCAGGACAGTAATTTTAGGATTTGACACTGTTGGCTATTTATTTTTTCTTGAAATATTTTATTATTTTGACTTTTTAGTGTTGTCTCTTGTTTTTTCTTGGTTTATTTCTGAAATCAGTTAAGCTTCCTTTCCTTTCCTGATCCTCCTCATCTGCTCATCCAGTAATGTTGATTGTCCTTGTTATTCTCTTCCACAGCAGCTTTTTCTGCAACTGCCTTGGGGGTTATCTCATCCCTTCATAATATCACCTACACCTTCATAATGACCAGAGCTACATTTCCAGAC... | pathogenic | 182,896 |
Evaluate this variant at chromosome 11, position 103245379, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ATTATAAAAGCCAAAAAGAATGCTGCAAATGACATCAGCTTGAGACTAAAGCTCTTGCTTAGCATAATGTTAGTACAGATATTCTGTGTTATTTTGTGTTAAGTAGGACTGTACTCTCTATACTCTGGCTAAATGTAATTACCTAATATTAACTCCTGGTCACTGAAGATTTGTTAATATGGCTTGTGATGCAGCTAAAAACTGTATTTTTGTTTCTTTTTCATGGTTGTATATTTGTGTTCTCCAAAGCTTGAGAGAAAAGATCATTTAGTAATTGATTTATAATTTCTAGAAAACTATTTCCATTTAAATGAAAGCTT... | ATTATAAAAGCCAAAAAGAATGCTGCAAATGACATCAGCTTGAGACTAAAGCTCTTGCTTAGCATAATGTTAGTACAGATATTCTGTGTTATTTTGTGTTAAGTAGGACTGTACTCTCTATACTCTGGCTAAATGTAATTACCTAATATTAACTCCTGGTCACTGAAGATTTGTTAATATGGCTTGTGATGCAGCTAAAAACTGTATTTTTGTTTCTTTTTCATGGTTGTATATTTGTGTTCTCCAAAGCTTGAGAGAAAAGATCATTTAGTAATTGATTTATAATTTCTAGAAAACTATTTCCATTTAAATGAAAGCTT... | benign | 182,905 |
Assess the variant on chromosome 11, position 103253270, impacting DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGAAATGTGACATCTTTCTATTCAGTTGTCTTATTTATCATTATGAAATGTTCTTCTTTATCTCTATAAATGTTTCAAGCTTTAGAGTCTGATATTAGAGTGGTTACACAAACTTTTTGGACTAGTATTTACATGGTATATACTTTGCCATTCTTTAACTTTCAACTTTTTTGTTGGGTTTTTTAAAAAATATTTTATTGTGCATATTTAAGATTTACAGCATTATATTATGAGATACATATATATCATAAAATGCTTTTCTGTCGTAAAGCAAATTAACATATCTATCAATTTACACAGCTAGCCCCCTTTTTGTGTGT... | GGAAATGTGACATCTTTCTATTCAGTTGTCTTATTTATCATTATGAAATGTTCTTCTTTATCTCTATAAATGTTTCAAGCTTTAGAGTCTGATATTAGAGTGGTTACACAAACTTTTTGGACTAGTATTTACATGGTATATACTTTGCCATTCTTTAACTTTCAACTTTTTTGTTGGGTTTTTTAAAAAATATTTTATTGTGCATATTTAAGATTTACAGCATTATATTATGAGATACATATATATCATAAAATGCTTTTCTGTCGTAAAGCAAATTAACATATCTATCAATTTACACAGCTAGCCCCCTTTTTGTGTGT... | benign | 182,907 |
Variant in DYNC2H1 (dynein cytoplasmic 2 heavy chain 1), chromosome 11, position 103253346—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | AAGCTTTAGAGTCTGATATTAGAGTGGTTACACAAACTTTTTGGACTAGTATTTACATGGTATATACTTTGCCATTCTTTAACTTTCAACTTTTTTGTTGGGTTTTTTAAAAAATATTTTATTGTGCATATTTAAGATTTACAGCATTATATTATGAGATACATATATATCATAAAATGCTTTTCTGTCGTAAAGCAAATTAACATATCTATCAATTTACACAGCTAGCCCCCTTTTTGTGTGTCAAGAGCAGCTAAACTCTACTCCTTTAGCACAACATCCCAAATGCAATAGTTTTGTTACCTACAGTCCTCATGTTG... | AAGCTTTAGAGTCTGATATTAGAGTGGTTACACAAACTTTTTGGACTAGTATTTACATGGTATATACTTTGCCATTCTTTAACTTTCAACTTTTTTGTTGGGTTTTTTAAAAAATATTTTATTGTGCATATTTAAGATTTACAGCATTATATTATGAGATACATATATATCATAAAATGCTTTTCTGTCGTAAAGCAAATTAACATATCTATCAATTTACACAGCTAGCCCCCTTTTTGTGTGTCAAGAGCAGCTAAACTCTACTCCTTTAGCACAACATCCCAAATGCAATAGTTTTGTTACCTACAGTCCTCATGTTG... | pathogenic | 182,911 |
A genetic variant at chromosome 11, position 103282214, affecting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | ACCCCTGACTTGAAGTGTCTCTAAGATGTAGAAAGCAATCTGAATAGTAATTTCTTACATCGATAAAAAAGTAGGTCATATGAAGACAGAATAGAGATTTTTGTGTGCCAAATTTTAACGACTATGCTTTTCCAAAGACACAAATTTTTAAAAGGCAAGATAATATCTGTTATTCTTTGCAGGCTGATCAGTTGATGTTCGCTTTGCATTTTGTTCGAGGCATGCATCCTGAACTTTTTCAAGAAAATGTAAGTCAAATTAAAGGAGAGAAATTTTACAGTAACATAGAAATTTGTTAATGGGTGGATTTATGTTTAGAT... | ACCCCTGACTTGAAGTGTCTCTAAGATGTAGAAAGCAATCTGAATAGTAATTTCTTACATCGATAAAAAAGTAGGTCATATGAAGACAGAATAGAGATTTTTGTGTGCCAAATTTTAACGACTATGCTTTTCCAAAGACACAAATTTTTAAAAGGCAAGATAATATCTGTTATTCTTTGCAGGCTGATCAGTTGATGTTCGCTTTGCATTTTGTTCGAGGCATGCATCCTGAACTTTTTCAAGAAAATGTAAGTCAAATTAAAGGAGAGAAATTTTACAGTAACATAGAAATTTGTTAATGGGTGGATTTATGTTTAGAT... | pathogenic | 182,935 |
Mutation found at chromosome 11 position 103283017, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | GACCATTTCTTGTCTGCTTACAATTTTAAAAAAAAAGCTATTTGCAAGTAATTTTTCTCATTATGATGCTGTTATCATAAAGTGAGATTCCAGTAGCCAGGGTGTCAAGGGATGGTATATGGACAGTGCAACTTTGACTTACTTTACTCTACTTAGTCAAATTTTAACTATTTTCTGGTTCCTTTCATTTGAATATAATAGTTAAAATAATGCAGACCATTCACAGTTCATATGTTCTCCCTTTGTTTTTCTCTGACTCCACATGCACTGACATGTATAGTTTCTGCTGAATTTATTAATTTGGTCCAGTTTATTCCTGC... | GACCATTTCTTGTCTGCTTACAATTTTAAAAAAAAAGCTATTTGCAAGTAATTTTTCTCATTATGATGCTGTTATCATAAAGTGAGATTCCAGTAGCCAGGGTGTCAAGGGATGGTATATGGACAGTGCAACTTTGACTTACTTTACTCTACTTAGTCAAATTTTAACTATTTTCTGGTTCCTTTCATTTGAATATAATAGTTAAAATAATGCAGACCATTCACAGTTCATATGTTCTCCCTTTGTTTTTCTCTGACTCCACATGCACTGACATGTATAGTTTCTGCTGAATTTATTAATTTGGTCCAGTTTATTCCTGC... | pathogenic | 182,936 |
Is the genetic change at chromosome 11, position 103286279, within gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Jeune_thoracic_dystrophy'] | TCACTTTGCTCCTTGGCTATAAATTTCCACTTGCCTATGCTATATTCAAAATTGAGCCCTGCTCTGTACTGAAGTCTCTTTTCGCCTATTGCTTCCTCTATTGTAATAGTCCTGAAAAAAAATCTGTTTTTAATGCTTTAACTACTGACAAGCTCTGGTTTTTTGTTCATACCAGTGGAATGACAGGTGTATTAAGAGACTCTGCCATGAACAAACTTACATTGTAGAGAGCATATCAAATAATTACCTTGTCATAATGGTTGACAGTATACAAGGTAGCCAAATACATGATGATAATATAATGTGTAGCACACCTACAT... | TCACTTTGCTCCTTGGCTATAAATTTCCACTTGCCTATGCTATATTCAAAATTGAGCCCTGCTCTGTACTGAAGTCTCTTTTCGCCTATTGCTTCCTCTATTGTAATAGTCCTGAAAAAAAATCTGTTTTTAATGCTTTAACTACTGACAAGCTCTGGTTTTTTGTTCATACCAGTGGAATGACAGGTGTATTAAGAGACTCTGCCATGAACAAACTTACATTGTAGAGAGCATATCAAATAATTACCTTGTCATAATGGTTGACAGTATACAAGGTAGCCAAATACATGATGATAATATAATGTGTAGCACACCTACAT... | pathogenic | 182,943 |
Is the genetic change at chromosome 11, position 103304736, within gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATCAGTTAATGAATTGTATTGTACTAATGAGATATATAGATTGATGGTTGGGTTCAGTCTTCTCTTGCATTGTGGTCTCAATTTACAGTACAGCTACAGGCCTGTATTGTGGTCTCAATTTACAACACAGATGTTAAATGTGGTAATCAGGGTACCTACCTCATAGCATTGTAATAAGAAGATGATATCATACGTGGAAAACATTTAGAAAAATGCCCGGCACCTTAAGCATAAAACAGATGTTGGCTATTACTAGTATATTATTTTAGAGTAGAAAAACTTTAATGTATTATGAGATTACAACTCACCTGGGTATTCTC... | ATCAGTTAATGAATTGTATTGTACTAATGAGATATATAGATTGATGGTTGGGTTCAGTCTTCTCTTGCATTGTGGTCTCAATTTACAGTACAGCTACAGGCCTGTATTGTGGTCTCAATTTACAACACAGATGTTAAATGTGGTAATCAGGGTACCTACCTCATAGCATTGTAATAAGAAGATGATATCATACGTGGAAAACATTTAGAAAAATGCCCGGCACCTTAAGCATAAAACAGATGTTGGCTATTACTAGTATATTATTTTAGAGTAGAAAAACTTTAATGTATTATGAGATTACAACTCACCTGGGTATTCTC... | benign | 182,954 |
Clinical significance of chromosome 11, position 103399673, gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | TGGCTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGACAGGTTGATCACTTGAGTCCTGGAGTTTGAGACCAGCCTGGGCAACATGGCAAATACCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGATGGGTGCCTGTATTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCGAGGCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATT... | TGGCTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGACAGGTTGATCACTTGAGTCCTGGAGTTTGAGACCAGCCTGGGCAACATGGCAAATACCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGATGGGTGCCTGTATTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCGAGGCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATT... | pathogenic | 182,979 |
A genetic variant on chromosome 11, position 103399879, affects the gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATTGTAGATAAATGGAATCTTGCTTCAATGATCTAAGTTTGAGTGTTTTTGTTCTATTAAGTGACAGTGCAAACAATGCTATCAACTTAATAAAATGGATTAAAATCCACAAAATATACTTTGAAACAAACTAAATTAGTACTTGTTAATCTTGCTTGGTATATGATTGATAAATATTTAAATACCACATATTATTTACTTCCAGGAAC... | GCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATTGTAGATAAATGGAATCTTGCTTCAATGATCTAAGTTTGAGTGTTTTTGTTCTATTAAGTGACAGTGCAAACAATGCTATCAACTTAATAAAATGGATTAAAATCCACAAAATATACTTTGAAACAAACTAAATTAGTACTTGTTAATCTTGCTTGGTATATGATTGATAAATATTTAAATACCACATATTATTTACTTCCAGGAAC... | benign | 182,982 |
A genetic variant at chromosome 11, position 103455192, affecting gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'DYNC2H1-related_disorder', 'Jeune_thoracic_dystrophy'] | AGAAGGGACTAGAGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAAC... | AGAAGGGACTAGAGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAAC... | pathogenic | 182,988 |
A mutation at chromosome position 103455204 on chromosome 11 in gene DYNC2H1 (dynein cytoplasmic 2 heavy chain 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Asphyxiating_thoracic_dystrophy_3', 'Jeune_thoracic_dystrophy'] | AGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAACACATTTGCATTA... | AGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAACACATTTGCATTA... | pathogenic | 182,989 |
A genetic variant at chromosome 11, position 108121635, affecting gene ACAT1 (acetyl-CoA acetyltransferase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGA... | AGTTTTCTGAGTCATTTCTTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGA... | pathogenic | 183,032 |
Evaluate this variant at chromosome 11, position 108121653, gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGACAGGGTGCTATATTAAAA... | TTTAACAATTCAACTTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGACAGGGTGCTATATTAAAA... | pathogenic | 183,033 |
Does the variant impacting ACAT1 (acetyl-CoA acetyltransferase 1) on chromosome 11, position 108121667, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGACAGGGTGCTATATTAAAAAATTACCCTGGCCG... | TTTTTCAGTTAGAAATATCTGTTTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACAAAGTTTAAACACTGACATACAATGTAATGACTTCCTTTCAATAATTCTCGAAGCAGCCCAGTATGAAAAATATTTGTCTTTGGCCTCTGGTAGAAGGGAAAGGTGTGAGTGTGACATTCCAAGGAAGGAGGTAGGCCTTGGTGAGCTGTTGAATAGAGAGGTTCTTCGGTGCAGGAATCACAGGGGACTTTAAGGGACAAACCTGGAGTGATGGGGAAATTAAAGACAGGGTGCTATATTAAAAAATTACCCTGGCCG... | pathogenic | 183,034 |
Variant on chromosome 11, at position 108131914, affecting ACAT1 (acetyl-CoA acetyltransferase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | CAGATACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAGGAGTTCTGGTTTATTTTTTATTTTTATATATGAAAATTTTCAAACAAAATAAATTGCAACTGACCCTGCCAGAACCCAAGCTAGAAAATCACTAACCAAAGCCATCTTTTGCCTCTTGTGGTGTGCCATGGTCTATTTCTCCTGTCTCTGAGTATATATGTTGCATTCTTTTGCTTCTCAGTGTATTCATGGCTTTTCTCTTTGTTCTAACCGCTGCTTTTCTGTGGCATTGGCTGGTCAGCTCCAGCCCCTTTTGACTTTTCAGTCCCAGTCCCCA... | CAGATACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAGGAGTTCTGGTTTATTTTTTATTTTTATATATGAAAATTTTCAAACAAAATAAATTGCAACTGACCCTGCCAGAACCCAAGCTAGAAAATCACTAACCAAAGCCATCTTTTGCCTCTTGTGGTGTGCCATGGTCTATTTCTCCTGTCTCTGAGTATATATGTTGCATTCTTTTGCTTCTCAGTGTATTCATGGCTTTTCTCTTTGTTCTAACCGCTGCTTTTCTGTGGCATTGGCTGGTCAGCTCCAGCCCCTTTTGACTTTTCAGTCCCAGTCCCCA... | pathogenic | 183,035 |
The chromosome 11, position 108131917 genetic variant in gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | ATACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAGGAGTTCTGGTTTATTTTTTATTTTTATATATGAAAATTTTCAAACAAAATAAATTGCAACTGACCCTGCCAGAACCCAAGCTAGAAAATCACTAACCAAAGCCATCTTTTGCCTCTTGTGGTGTGCCATGGTCTATTTCTCCTGTCTCTGAGTATATATGTTGCATTCTTTTGCTTCTCAGTGTATTCATGGCTTTTCTCTTTGTTCTAACCGCTGCTTTTCTGTGGCATTGGCTGGTCAGCTCCAGCCCCTTTTGACTTTTCAGTCCCAGTCCCCACCG... | ATACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGTCCAGGAGTTCTGGTTTATTTTTTATTTTTATATATGAAAATTTTCAAACAAAATAAATTGCAACTGACCCTGCCAGAACCCAAGCTAGAAAATCACTAACCAAAGCCATCTTTTGCCTCTTGTGGTGTGCCATGGTCTATTTCTCCTGTCTCTGAGTATATATGTTGCATTCTTTTGCTTCTCAGTGTATTCATGGCTTTTCTCTTTGTTCTAACCGCTGCTTTTCTGTGGCATTGGCTGGTCAGCTCCAGCCCCTTTTGACTTTTCAGTCCCAGTCCCCACCG... | pathogenic | 183,036 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108133832, gene ACAT1 (acetyl-CoA acetyltransferase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AAAACTTGGAAATAAAAGCATAAGGATGCAGGAAGAAACCACTATAACCTTATCACTGAGAAATATAAAATGATATAGTTTAATATTTTTTACATTATAACATTATAAATATTTATATTACAGGAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACTTTGAAGGTAAGTAATTTAAATTGTGCTTTAAAATTTCCAGAATTTAAAGGAAATGTCAATAAAAATGCATATACTTATGATTTGGATACATGTGAAAGTCAAAGCAGGATTATGTAACAGTTAGGAATAGCTAACTATTCAAATATTCAGTTAAA... | AAAACTTGGAAATAAAAGCATAAGGATGCAGGAAGAAACCACTATAACCTTATCACTGAGAAATATAAAATGATATAGTTTAATATTTTTTACATTATAACATTATAAATATTTATATTACAGGAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACTTTGAAGGTAAGTAATTTAAATTGTGCTTTAAAATTTCCAGAATTTAAAGGAAATGTCAATAAAAATGCATATACTTATGATTTGGATACATGTGAAAGTCAAAGCAGGATTATGTAACAGTTAGGAATAGCTAACTATTCAAATATTCAGTTAAA... | pathogenic | 183,038 |
Determine whether the variant at chromosome 11, position 108134200, in gene ACAT1 (acetyl-CoA acetyltransferase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TGTTGCTTCCTTATAGTCTGCTACAAAACAACATTCCCTCTAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAG... | TGTTGCTTCCTTATAGTCTGCTACAAAACAACATTCCCTCTAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAG... | benign | 183,044 |
The genetic variant at chromosome 11, position 108134232, affecting gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | ATTCCCTCTAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCA... | ATTCCCTCTAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCA... | pathogenic | 183,045 |
A genetic variant at chromosome 11, position 108134240, affecting gene ACAT1 (acetyl-CoA acetyltransferase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCAAGAGAGCT... | TAGAACTGGGCAGTGTTCTTCTTTTACTCACAGGGACTCGCATTGTATTGTGTGTGGTACAAGCAGAGACTGTATAGAAGATCCTAGAAGAGAGGGAGTGGACCAGTTGGGAATTAGACAAGGAGGGCCATTACAGCATCTCCTAGGACCTTCTGAAGAGTCTCTGTTTTGTAAGGGTCACTAAAGTGACTTAGTTAAGATCTTCTATCAAAATCTAAGCAACCATTCTGTTATTTATCTCTAAACTTAATAGGAGATTGTGGAAGACAAGTGTAAGGAGAGAACTGTCACAGTGCTGTTTTATAGTATTCAAGAGAGCT... | pathogenic | 183,046 |
Is the genetic variant on chromosome 11, position 108135172, gene ACAT1 (acetyl-CoA acetyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GCAGTCAGCCAAGATCATACCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGC... | GCAGTCAGCCAAGATCATACCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGC... | pathogenic | 183,049 |
Mutation found at chromosome 11 position 108135182, gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AAGATCATACCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGCCACTGCATTC... | AAGATCATACCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGCCACTGCATTC... | pathogenic | 183,050 |
Regarding the variant found on chromosome 11 at position 108135219 in gene ACAT1 (acetyl-CoA acetyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGCCACTGCATTCCAGCCTGGGCAGCTGAGCAAGACCCTGTCTCAAAAAC... | TGAGACTCCATCTCAAATTACATATAAAAAAAGAAATTCTGGCCCTGGCTCTGTCCTAGTTAAGTGGTATTGCCCCACCTAGGATACAGGTCTTGATTCCTAGCCAGAGTTCCTTTCAGTAAGGGACCCTCTTAGAGTTGTTTATTATGCAGTTAACAAGAGTAAAGTGGCTGAGTGTGGTGGCTCATACCCTTAATCCTAGCACTTTGGTAGGCTGAGGCAGAAGGATTGCTTGAGCTGAGGAGTTTGAGCTGCAATGAGCTATGATTGTGCCACTGCATTCCAGCCTGGGCAGCTGAGCAAGACCCTGTCTCAAAAAC... | pathogenic | 183,053 |
Evaluate if the mutation on chromosome 11 at position 108138905 in ACAT1 (acetyl-CoA acetyltransferase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GTATGCCTGATTAAAGACTGTAAGAAGATATTATTGGCTTTATGTTTACATTAATGTTTTATATTAAACTGTTTTTAACTAGCCCTTATAATGCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAA... | GTATGCCTGATTAAAGACTGTAAGAAGATATTATTGGCTTTATGTTTACATTAATGTTTTATATTAAACTGTTTTTAACTAGCCCTTATAATGCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAA... | pathogenic | 183,060 |
Chromosome 11, position 108138950, gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TTACATTAATGTTTTATATTAAACTGTTTTTAACTAGCCCTTATAATGCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTA... | TTACATTAATGTTTTATATTAAACTGTTTTTAACTAGCCCTTATAATGCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTA... | pathogenic | 183,066 |
Mutation at chromosome 11, position 108138997, within ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTAAGAGAAATGTAGGTGTTTTACATGTTGGTGGATGGGGAAAGTGCAGA... | GCAAGTGATTTTTTTTTGTTGACTTGTAAAGTAGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTAAGAGAAATGTAGGTGTTTTACATGTTGGTGGATGGGGAAAGTGCAGA... | pathogenic | 183,067 |
Considering the genetic mutation at chromosome 11, position 108139029, impacting ACAT1 (acetyl-CoA acetyltransferase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTAAGAGAAATGTAGGTGTTTTACATGTTGGTGGATGGGGAAAGTGCAGAGGTATGTGTGTGAAATGTGCATGGTGTCTCTG... | AGTAACAAGTTGATTAATATTTATTAAACTTATATATGCCAGTTGCCAAGGATGTAAAAATATGACAGGGTGTCTGGCCTCAAAGGAGCATAGTCTAGTGGGAAGACTTGACATGTAAACATATAATAATATTAAAAGCATTGCATAGTAATTGGGGAACACAAAGGAGGAGAAACTGTTTCAAGAAAGGATAGAAATAAATGGTCAAGGCAGACATGAAGTAGTGTTCTGATTAGTTTTAAGAGAAATGTAGGTGTTTTACATGTTGGTGGATGGGGAAAGTGCAGAGGTATGTGTGTGAAATGTGCATGGTGTCTCTG... | pathogenic | 183,069 |
A mutation at chromosome position 108140130 on chromosome 11 in gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCAAACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTT... | AGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCAAACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTT... | pathogenic | 183,074 |
Mutation found at chromosome 11 position 108140198, gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTTTTTTTTTTTTTCTTTTGAGGAGTCTTGCTCTGCCCCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCT... | GGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTTTTTTTTTTTTTCTTTTGAGGAGTCTTGCTCTGCCCCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCT... | pathogenic | 183,077 |
The mutation impacting ACAT1 (acetyl-CoA acetyltransferase 1) on chromosome 11 at position 108140205: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTTTTTTTTTTTTTCTTTTGAGGAGTCTTGCTCTGCCCCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACAGCA... | TTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCAGCCCGCTTTGGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGTGCCCAGCCAGATTTCTGGTATTCTTATTAATGTCTGGTTGTGAACTTTTGAGACAGAGCCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAATCTCCGCCTCTACTTTTTTTTTTTTTCTTTTGAGGAGTCTTGCTCTGCCCCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACAGCA... | pathogenic | 183,078 |
Variant chromosome 11, position 108141622, gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AAGAGTCAAACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCT... | AAGAGTCAAACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCT... | pathogenic | 183,081 |
The mutation in gene ACAT1 (acetyl-CoA acetyltransferase 1) at chromosome 11, position 108141625—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AGTCAAACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCC... | AGTCAAACTCCGTCTCAAAAAAAGACATGAGTGAAAAGTGACCTGGTATAGAAAGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCC... | pathogenic | 183,082 |
Is the genetic variant on chromosome 11, position 108141678, gene ACAT1 (acetyl-CoA acetyltransferase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | AGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGC... | AGAAATATATATGTGTGTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGC... | pathogenic | 183,084 |
Variant on chromosome 11, at position 108141694, affecting ACAT1 (acetyl-CoA acetyltransferase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTT... | GTGTGTATATATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTT... | pathogenic | 183,086 |
Is chromosome 11, position 108141704, gene ACAT1 (acetyl-CoA acetyltransferase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | ATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTTAAGAAACGTT... | ATATATGTTATTATTATTTTTTTGAAATGGTGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTTAGCTCACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTTAAGAAACGTT... | pathogenic | 183,088 |
A mutation at chromosome position 108141783 on chromosome 11 in gene ACAT1 (acetyl-CoA acetyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTTAAGAAACGTTAACTATTAAACACTATAAGTTAGGCAAAGTTAATAGATATTTTCTAAATTATGCAAAGTTAACTTTAAAATATTTCAAC... | ACTGCAGCCTCCGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCACGTGCCCCCATGCCCGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCCGGCCTAAGAAATATATTTTAAGAAACGTTAACTATTAAACACTATAAGTTAGGCAAAGTTAATAGATATTTTCTAAATTATGCAAAGTTAACTTTAAAATATTTCAAC... | benign | 183,089 |
A genetic variant on chromosome 11, position 108142513, affects the gene ACAT1 (acetyl-CoA acetyltransferase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TACGGTATTTTAAATTGAAAAGGGATTTACTAGAAGGTTACCGGGAGTGCCTCCAAGAACTGAAGGATGAACAGTAGCAACCATTCAGCTCTGGGAACTTCAGGGATTGGAACTGGGTGTTCACTACTACTAAGACATGCTCTCTTGGCTTCTCACACCTGCAGGCTTTTGTGCTTTATTCTCTCAGCCTTTCTAAAGTTGCTGCCTCTACCTCTAGGGTCACATATATAGGGTTCTCAAAAAGGAGAGACTTTCTCACCAGTTCCAGCAGAATAAATCCACAATGAAGACTCATTAACTTGCTTTAGGTTACAATTCTA... | TACGGTATTTTAAATTGAAAAGGGATTTACTAGAAGGTTACCGGGAGTGCCTCCAAGAACTGAAGGATGAACAGTAGCAACCATTCAGCTCTGGGAACTTCAGGGATTGGAACTGGGTGTTCACTACTACTAAGACATGCTCTCTTGGCTTCTCACACCTGCAGGCTTTTGTGCTTTATTCTCTCAGCCTTTCTAAAGTTGCTGCCTCTACCTCTAGGGTCACATATATAGGGTTCTCAAAAAGGAGAGACTTTCTCACCAGTTCCAGCAGAATAAATCCACAATGAAGACTCATTAACTTGCTTTAGGTTACAATTCTA... | pathogenic | 183,096 |
Gene ACAT1 (acetyl-CoA acetyltransferase 1) variant at chromosome position 108146222 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | CCATGTCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTG... | CCATGTCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTG... | pathogenic | 183,110 |
The mutation in gene ACAT1 (acetyl-CoA acetyltransferase 1) at chromosome 11, position 108146226—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GTCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAG... | GTCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAG... | pathogenic | 183,111 |
Does the variant impacting ACAT1 (acetyl-CoA acetyltransferase 1) on chromosome 11, position 108146227, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | TCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAGT... | TCTTCTCCTGAAAAGAGTAAGAGCAACAAGGATAACAAACAAAAAAAAAAAAATAAAGAACAGCTCACAAACTACATCTTCAGTAGAACAGGTAAAACTACACATCTGAATTACTTGTAAGTATCATACAGAACTCACACACCTGGTGTGGTAACCACAAAGCGGAGGGAATGCTGGCTGATGGTTCCAGATCTAGAATGGAAAGCAACTAGTCACTCCCCAGGAGAGGACTCCATTCTGAAAGGGAACAGCTGGCAGCAGGTCTTCAGAGTAAATAGTAAAACTAGAGACAGAAAACCTACATATTCCAAATTGTCAGT... | pathogenic | 183,112 |
Determine if the mutation at chromosome 11, position 108147347 in gene ACAT1 (acetyl-CoA acetyltransferase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Deficiency_of_acetyl-CoA_acetyltransferase'] | GTAACATTTATAAAGCAGAAACTGCAGGGGATGCATTAATATCACTAATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGAACCAAGCAACACACAATCAGTAAAGCAGAGCTTAAGAATATATAAAGCATTA... | GTAACATTTATAAAGCAGAAACTGCAGGGGATGCATTAATATCACTAATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGAACCAAGCAACACACAATCAGTAAAGCAGAGCTTAAGAATATATAAAGCATTA... | pathogenic | 183,126 |
Considering the genetic mutation at chromosome 11, position 108147394, impacting ACAT1 (acetyl-CoA acetyltransferase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGAACCAAGCAACACACAATCAGTAAAGCAGAGCTTAAGAATATATAAAGCATTATGTGCCCCTAAATAGAAAATGTACCTTTTCAAATATCTGTGGAAAGA... | ATATTAGAAACTAATATACCTCTTTCATTAACAGTCAAGAACATAGAAATGGCTGGGTGCAGTGGCGCTCGCCTGTAATCCCAGCGCTTTGGGAGGCAGATCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGGGCCATGACTGTGCCATTCCACTTCAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAATAAATCAACAACAACAAAAAAGAATATAGAACCAAGCAACACACAATCAGTAAAGCAGAGCTTAAGAATATATAAAGCATTATGTGCCCCTAAATAGAAAATGTACCTTTTCAAATATCTGTGGAAAGA... | benign | 183,127 |
Does the chromosome 11 mutation at position 108227631 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCTACCTCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATT... | CCTACCTCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATT... | pathogenic | 183,228 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108227637, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCG... | TCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCG... | pathogenic | 183,231 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108227637—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast'] | TCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCG... | TCAGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCG... | pathogenic | 183,232 |
Chromosome 11, position 108227639, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGG... | AGTCTCCCCAGTAGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGG... | pathogenic | 183,234 |
Variant at chromosome 11, position 108227651, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACAT... | AGCTAGGATTGCAGGCACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACAT... | pathogenic | 183,237 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108227666: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAG... | CACATGCTACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAG... | pathogenic | 183,240 |
Chromosome 11, position 108227673, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGT... | TACCACACCTGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGT... | pathogenic | 183,243 |
Considering the genetic mutation at chromosome 11, position 108227688, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGAT... | ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGAT... | pathogenic | 183,249 |
Clinically, how would you classify the variant at chromosome 11, position 108227692, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGAT... | TTGTATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGAT... | pathogenic | 183,253 |
Considering the variant on chromosome 11, location 108227695, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGG... | TATTTTTAGTAGAGACGGGGTTTCACGATGTTGGCCAGGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGG... | pathogenic | 183,254 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108227732 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATAT... | GGCTGGCTGGTCTCGAACTCCTGACCTCGTGGAACGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATAT... | benign | 183,260 |
Mutation at chromosome 11, position 108227773, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTT... | CTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTT... | pathogenic | 183,266 |
Variant at chromosome 11, position 108227790, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACAT... | CTGGGATTACAGGCATGAGCCACCACGCCTAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACAT... | pathogenic | 183,271 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108227819—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTAT... | TAGCCCCGGTAGTCAGCTCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTAT... | pathogenic | 183,280 |
A genetic variant at chromosome 11, position 108227836, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGAT... | TCTTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGAT... | pathogenic | 183,284 |
Chromosome 11, position 108227838, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCA... | TTACTGAGAATATTCAAAGACAGGGCATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCA... | pathogenic | 183,288 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108227864 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTC... | ATTCATTTTGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTC... | pathogenic | 183,297 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108227872—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTT... | TGTAAGAGACATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTT... | pathogenic | 183,299 |
Does the chromosome 11 mutation at position 108227881 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTTTCTTTTCTA... | CATTCCTTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTTTCTTTTCTA... | pathogenic | 183,302 |
Does the variant on chromosome 11 at location 108227887 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTTTCTTTTCTATTTTAC... | TTCCTTCATAGGAAGATTGGACCTGGTCTTTTAGTTCCTCCCAATTTTGAGATTCTGTGAGATTGAATCGGGGCAGAGAAACATACTTAATCTTGAAAGATTAAGTAGAATTTAGATGGATGGATAGGAGAAGGACTTTCCCTACCTTTTTACTTCTTGAGATATAGTTATTTGTAGGTATAATATACATAAATATATGTATTTTTTCTCTGTTTACAGACATTCATAGTTTAATAAAAAACTTCTTTGTATTATATAAAGGTTTAGATCAGAACTAGTAAAACAGAATGCTGTTTCTTTTTTTTTCTTTTCTATTTTAC... | pathogenic | 183,303 |
Regarding the variant found on chromosome 11 at position 108229166 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATT... | GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATT... | benign | 183,313 |
Does the genetic variant at chromosome 11, position 108229183, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCCTGAGTAGCTGGGATTACAGGCGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAAT... | CTCCTGAGTAGCTGGGATTACAGGCGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAAT... | pathogenic | 183,321 |
Chromosome 11, position 108229207, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAAT... | CGCGCGCCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAAT... | pathogenic | 183,327 |
Is the variant located on chromosome 11 at position 108229219, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAAT... | AGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAAT... | pathogenic | 183,331 |
Variant on chromosome 11, at position 108229225, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCA... | GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCA... | pathogenic | 183,333 |
Variant at chromosome 11, position 108229231, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAA... | TTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAA... | pathogenic | 183,335 |
A mutation at chromosome position 108229278 on chromosome 11 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGC... | GTCGAACTCCTGACCTTGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGC... | pathogenic | 183,350 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108229301, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATA... | CTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATA... | pathogenic | 183,358 |
Mutation at chromosome 11, position 108229307, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATA... | CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGTGTAAATTATACTTTTATTTTAATCCTGCTACTACTGCAAGCAAGGCAAACATTTTTGTGTTACAGCATTACTTGTATAGATTTTAAGAAAATCTCATTTTAAATACGGAAATGTTAAGAAAAATTATTGTGCCTTTGACCAGAATGTGCCTCTAATTGTACAGTTAAATCTAACTATAAATACTGCAGTATAAAATAATTATATACACATTTTTTCACACCTCTTTCTCTCTATATATGCATATATACATATACATATATATACCTATA... | pathogenic | 183,360 |
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