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 |
|---|---|---|---|---|---|
Clinical classification of chromosome 11, position 108295012, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTT... | AGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTT... | pathogenic | 185,492 |
Variant at chromosome position 108295028, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTTATAATTTTTTCTTTTT... | GATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTTATAATTTTTTCTTTTT... | pathogenic | 185,498 |
A genetic variant at chromosome 11, position 108295049, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTTATAATTTTTTCTTTTTAAATTATATTTAGGTATTGGA... | GAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACTTTAAAATTATTTCTCTCCTTATAATTTTTTCTTTTTAAATTATATTTAGGTATTGGA... | pathogenic | 185,501 |
Does the variant on chromosome 11 at location 108297304 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CCTCTGCCAGATGATTTCTCTAAACCCAAATATGATCATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTG... | CCTCTGCCAGATGATTTCTCTAAACCCAAATATGATCATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTG... | pathogenic | 185,516 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108297312, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGATGATTTCTCTAAACCCAAATATGATCATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCT... | AGATGATTTCTCTAAACCCAAATATGATCATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCT... | pathogenic | 185,517 |
Is the genetic variant on chromosome 11, position 108297340, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTA... | CATGTTTTTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTA... | pathogenic | 185,527 |
Is the genetic variant on chromosome 11, position 108297347, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGT... | TTCTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGT... | pathogenic | 185,529 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108297349, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGTGA... | CTACTGCCTAAATTTTTTTTTTAAGAGACAGAGTTTTTTTTTTTTTTTAAGAGTCTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGTGA... | pathogenic | 185,530 |
Is the chromosome 11, position 108297403 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGTGAGCCACGGCATCTAGCCATGCTTAAACATTTTTCATTTCTTTTTCTTTTTTTTTA... | CTCACTCTGTCACCTAGGCTGGAGTGTAGTGGCACCATCATAACTTACTATGACCTTGAATTCCTGGGTACAAGGAATTCTCCTGTCTCAGCCTTCTGAATAGCTGGAACAACAGGCACACACCACTACACCTAGCTACTTTATTTATTTTTTTTATTTTTTGTAGGGACAGGGGTCCCACTATGTTGCCTAGGTTGGTCTCGAATTCTTGGCCTCAAGTGATCCTCCTGCCTTAGCCTCACAAAGCATTGGGATTAGAGGTGTGAGCCACGGCATCTAGCCATGCTTAAACATTTTTCATTTCTTTTTCTTTTTTTTTA... | benign | 185,547 |
Variant chromosome 11, position 108299721, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATGCGGTGGTCATCTTTATTATATGAGTGGTTATCTTTATTATATCTTCAAAATAAGTGAGGGTTTGTCATTTGGGATATTGGGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAA... | ATGCGGTGGTCATCTTTATTATATGAGTGGTTATCTTTATTATATCTTCAAAATAAGTGAGGGTTTGTCATTTGGGATATTGGGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAA... | pathogenic | 185,563 |
Is the genetic mutation found on chromosome 11 at position 108299777, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGAGGGTTTGTCATTTGGGATATTGGGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGA... | GTGAGGGTTTGTCATTTGGGATATTGGGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGA... | pathogenic | 185,573 |
Evaluate if the mutation on chromosome 11 at position 108299803 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAA... | GGGAAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAA... | pathogenic | 185,580 |
Variant at chromosome position 108299806, chromosome 11, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAA... | AAATATGAGATGCTAGCTAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAA... | pathogenic | 185,581 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108299823—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCC... | TAAGTTACATGCCTATTTAATTAAAATGTCCCTAAAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCC... | pathogenic | 185,585 |
Benign or pathogenic: chromosome 11, position 108299857, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATA... | AAAAGGCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATA... | pathogenic | 185,598 |
Does the variant on chromosome 11 at location 108299862 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'] | GCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAG... | GCCCCTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAG... | pathogenic | 185,600 |
Does the chromosome 11 mutation at position 108299866 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAA... | CTTTTGTACTTTTCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAA... | pathogenic | 185,602 |
Is the genetic mutation found on chromosome 11 at position 108299878, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAACATCATCTCTAG... | TCTTCCTTAAATATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAACATCATCTCTAG... | pathogenic | 185,604 |
Clinically, how would you classify the variant at chromosome 11, position 108299890, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAACATCATCTCTAGTTTAGGTGTTTA... | ATTCATATAAAATGAAAAGTTAGAGATTTACATATGTGTATAACTTAATTTGAAAATGCCTTGTAAATATTTAGGAAAGTCAGAAATACTTGTTTTTAGAGTTAAGTTGCAAATAAATTGACTGCCGATATATTTTATAAATACATTATAACTGACAGGTACTCAGTGTCTTTTGTTATGTAGCAGACATAAGAATGAAGACTTGGAGGGCTAGATTAAACTTAAATAATTAAAAACCATTCAAGTCCTTTCCTACAGCCATTTGAGGGGAAACCTAATGTAAAATAAGAAGCCAACATCATCTCTAGTTTAGGTGTTTA... | benign | 185,610 |
Chromosome 11, position 108301637, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ACTCGGCCTTAAGGTTAATTCTTGAAGTACAGAAAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTAT... | ACTCGGCCTTAAGGTTAATTCTTGAAGTACAGAAAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTAT... | benign | 185,614 |
Clinical significance of chromosome 11, position 108301651, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAATTCTTGAAGTACAGAAAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATA... | TTAATTCTTGAAGTACAGAAAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATA... | pathogenic | 185,617 |
Clinically, how would you classify the variant at chromosome 11, position 108301670, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGA... | AAAACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGA... | pathogenic | 185,621 |
Is the variant located on chromosome 11 at position 108301672, 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'] | AACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATA... | AACAGCATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATA... | pathogenic | 185,622 |
Determine if the mutation at chromosome 11, position 108301677 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | CATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCA... | CATTATAGTTTTGAAATTAGAAAATTTCAGTTTTATGTATGATCTCTTACCTATGACTCTACTGAAATAGAATTTCTATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCA... | pathogenic | 185,625 |
Clinical significance of chromosome 11, position 108301753, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTT... | TATATGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTT... | pathogenic | 185,643 |
The genetic variant at chromosome 11, position 108301757, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTAT... | TGTAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTAT... | pathogenic | 185,644 |
A genetic variant on chromosome 11, position 108301759, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTA... | TAGAGGCTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTA... | pathogenic | 185,645 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108301765—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCAC... | CTGTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCAC... | pathogenic | 185,649 |
Does the variant on chromosome 11 at location 108301767 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACAT... | GTTGGAAGCTGCTTGGGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACAT... | pathogenic | 185,650 |
Determine whether the variant at chromosome 11, position 108301782, in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACATAATTATTTACCCTAC... | GGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACATAATTATTTACCCTAC... | pathogenic | 185,655 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108301782 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', 'Hereditary_cancer-predisposing_syndrome'] | GGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACATAATTATTTACCCTAC... | GGAGAAGTGGGTCCTATAGATTTCTCTACCATAGCTATACAACATAGTAAAGATGCATCTTATACCAAGGCCCTTAAGTTATTTGAAGATAAAGAACTTCAGTGGACCTTCATAATGCTGACCTACCTGAATAACACACTGGTAGAAGATTGGTGAGTATTTATTGATACCTTATATGTAATCTCAATATGACATTCATGGAGAATGATACTTCACACAAATAGATATTCTCAGTAACTAAAGCTTTGTCCTTTTTTAAATCTCAGTGTCTTTATGAAAATTCTTATATTTTTATTAATTCACATAATTATTTACCCTAC... | pathogenic | 185,656 |
Is the genetic variant on chromosome 11, position 108302840, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TAGTATCTATATTTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTT... | TAGTATCTATATTTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTT... | benign | 185,666 |
Chromosome 11, position 108302847, 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', 'Familial_colorectal_cancer_type_X', 'Hereditary_cancer-predisposing_syndrome'] | TATATTTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAG... | TATATTTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAG... | pathogenic | 185,669 |
Is the genetic mutation found on chromosome 11 at position 108302852, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGT... | TTTATGCTGTCCTTGCTTAATCACTTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGT... | pathogenic | 185,673 |
Variant chromosome 11, position 108302876, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTA... | TTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTA... | pathogenic | 185,676 |
Clinical significance of chromosome 11, position 108302876, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTA... | TTCTAGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTA... | pathogenic | 185,677 |
Chromosome 11, position 108302880, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATG... | AGCCATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATG... | pathogenic | 185,679 |
Clinically, how would you classify the variant at chromosome 11, position 108302884, 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'] | ATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTC... | ATCCGTCTATCCTTGTGTTAACATGTATTAATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTC... | pathogenic | 185,681 |
A mutation at chromosome position 108302913 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', 'Hereditary_cancer-predisposing_syndrome'] | AATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTT... | AATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTT... | pathogenic | 185,686 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108302914—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTT... | ATTCATCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTT... | pathogenic | 185,687 |
The chromosome 11, position 108302928 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATG... | TTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATG... | pathogenic | 185,690 |
Determine if the mutation at chromosome 11, position 108302931 in gene ATM (ATM serine/threonine kinase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCAC... | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCAC... | pathogenic | 185,691 |
A genetic alteration at chromosome 11, position 108302937, in gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAAT... | TTTTTTTTTTTTGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAAT... | pathogenic | 185,692 |
For chromosome 11, position 108302948, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGAC... | TGAGACAGGGTCTCGCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGAC... | pathogenic | 185,695 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome position 108302962 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAAT... | GCTCTATCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAAT... | pathogenic | 185,697 |
The genetic variant at chromosome 11, position 108302968, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGG... | TCACCCAGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGG... | pathogenic | 185,699 |
Evaluate this variant at chromosome 11, position 108302974, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Carcinoma_of_colon', 'Familial_cancer_of_breast'] | AGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAG... | AGGCTGGAGCGCAGTGGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAG... | pathogenic | 185,702 |
Chromosome 11, position 108302989, gene ATM (ATM serine/threonine kinase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGT... | GGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGT... | pathogenic | 185,705 |
Evaluate if the mutation on chromosome 11 at position 108302989 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | GGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGT... | GGCATGATAATACATCATAGATCATAGCTGACTGTAACCCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGT... | pathogenic | 185,706 |
A genetic variant on chromosome 11, position 108303027, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGG... | CCCAAATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGG... | pathogenic | 185,713 |
A genetic variant on chromosome 11, position 108303031, affects the gene ATM (ATM serine/threonine kinase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGGGACT... | AATTCTTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGGGACT... | benign | 185,716 |
Evaluate if the mutation on chromosome 11 at position 108303037 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGGGACTTTAGCA... | TGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAATGTGCAAAGTTTATGTGCTTGAGCCACACCACACTCAGCCAGTTCATCTCATTTTTTAAATGTATATCAAGGTATATCAAGCACAGTTTTTGAAGAGAGTGCCACAGAAAATTTGCGAGCATTAAATGTTTCATTCATTTCATAGTAATTCGAAATTGGTTTTTCTGAAACAGATGCACAGAAATATTAGTGTGACTTCAACTTAAGAATACTAGGAAGCAGGTACAAGTTTTTTGTATTTTTCTTTAACAGGGAAAAACTTTAGATCTTCAAGGGACTTTAGCA... | benign | 185,717 |
Located at chromosome 11 position 108304673, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AGAGTAGAACCTAATTTTTCTGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACAT... | AGAGTAGAACCTAATTTTTCTGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACAT... | pathogenic | 185,730 |
Does the genetic variant at chromosome 11, position 108304686, 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', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTCTGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACA... | ATTTTTCTGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACA... | pathogenic | 185,734 |
Gene ATM (ATM serine/threonine kinase) variant at chromosome 11, position 108304693—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTT... | TGCTGCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTT... | pathogenic | 185,736 |
Located at chromosome 11 position 108304697, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | GCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGC... | GCCTAAAGCAGCAGTTTTTGCCATACCACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGC... | pathogenic | 185,738 |
Benign or pathogenic: chromosome 11, position 108304723, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAAT... | CACTCTGCCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAAT... | pathogenic | 185,747 |
Variant at chromosome 11, position 108304730, 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', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAAT... | CCTCTTGTATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAAT... | pathogenic | 185,749 |
Evaluate this variant at chromosome 11, position 108304738, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | ATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAAT... | ATAAACATAAATGTTTTCATCTTAAAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAAT... | pathogenic | 185,755 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108304762: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAA... | AAAGGTAAACATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAA... | pathogenic | 185,764 |
Mutation found at chromosome 11 position 108304771, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAA... | CATTGCCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAA... | pathogenic | 185,767 |
Is the variant located on chromosome 11 at position 108304776, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGT... | CCTCCAGATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGT... | pathogenic | 185,769 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108304782—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATA... | GATTTAGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATA... | pathogenic | 185,772 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108304787—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATT... | AGTTTTAACTGTATTTAGCTTTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATT... | pathogenic | 185,773 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108304807: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTA... | TTATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTA... | pathogenic | 185,782 |
Regarding the variant found on chromosome 11 at position 108304809 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ATM-related_cancer_predisposition', 'Ataxia-telangiectasia_syndrome', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATC... | ATTCAGAAAGATTTGTTATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATC... | pathogenic | 185,783 |
Variant at chromosome 11, position 108304825, 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', 'Hereditary_cancer-predisposing_syndrome'] | TATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGAT... | TATACTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGAT... | pathogenic | 185,791 |
For chromosome 11, position 108304829, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | CTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTG... | CTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTG... | pathogenic | 185,793 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108304829—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTG... | CTCATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTG... | pathogenic | 185,794 |
Is the genetic variant on chromosome 11, position 108304831, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCA... | CATTTTGTGTAGGAAAGGTACAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCA... | pathogenic | 185,796 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108304851—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCACATCATCTTCACATAATATC... | CAATGATTTCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCACATCATCTTCACATAATATC... | pathogenic | 185,803 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108304859, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | benign | TCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCACATCATCTTCACATAATATCACCCCCAC... | TCCACTTCTCTTATTTACATTTTCTAATCCCTTTCTTTCTAGTTTTTAGAAGTACCCAGATTTGACAAAGAAAACCCTTTTGAAGGCCTGGATGATATAAATCTGTGGATTCCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTTTTGGACAGTGGAGGCACAAAATGTGAAATTCTTCAATTATTAAAGCCAATGTGTGAAGTAAGAAGATTAATTAGTCTGATATAATTCCTTGTTTATGACCTGTTTATCTAAAGAGTGCTGTGATACTGCACATCATCTTCACATAATATCACCCCCAC... | benign | 185,807 |
The chromosome 11, position 108307900 genetic variant in gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CACAGATCTTTATTGTTAACTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGC... | CACAGATCTTTATTGTTAACTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGC... | pathogenic | 185,814 |
Evaluate this variant at chromosome 11, position 108307907, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTTATTGTTAACTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGC... | CTTTATTGTTAACTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGC... | pathogenic | 185,815 |
Assess the variant on chromosome 11, position 108307919, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast'] | CTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCT... | CTGTCTTTATTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCT... | pathogenic | 185,821 |
Considering the genetic mutation at chromosome 11, position 108307928, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGG... | TTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGG... | pathogenic | 185,823 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108307928 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', 'Hereditary_cancer-predisposing_syndrome'] | TTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGG... | TTATATATTATTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGG... | pathogenic | 185,824 |
Is chromosome 11, position 108307938, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAA... | TTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAA... | pathogenic | 185,830 |
For chromosome 11, position 108307938, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAA... | TTAATGTGTTTTATATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAA... | pathogenic | 185,831 |
Clinical classification of chromosome 11, position 108307951, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAG... | TATGCAAACATAAAGCTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAG... | pathogenic | 185,833 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108307966 in gene ATM (ATM serine/threonine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATC... | CTAGGTGCAAATTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATC... | pathogenic | 185,835 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108307977, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATCCTGTGATCCTA... | TTCACTTGTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATCCTGTGATCCTA... | pathogenic | 185,839 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108307984—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATCCTGTGATCCTACTAGATT... | GTTGTACTTAAAGACCAATCAATTCTAATACAAATGTTGATTTAATGTGATATTTTGCCACAACTAATCTGCTCCTCCCAATCCTTCCAGTCACTTCAGCAAAGGTTGTGATTACTCAGTTCTTCCAATTGTTTCTTTTAGTTTTACTGCTACAACCTTCATTTGACATGACTCTAATGTCATTTAGACTTCAGTTTGCTATGCTTTATATTTTATGTATTTTATTTTCTGTTGGCTAACAGCAATTACAAATCTACTATTTGGAAAAATATAAATTATAAACATAGACATAGATGCCCATCCTGTGATCCTACTAGATT... | benign | 185,841 |
Variant chromosome 11, position 108310137, gene ATM: benign or pathogenic? Disease(s)? | benign | GTTATATTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTA... | GTTATATTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTA... | benign | 185,852 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108310139, gene ATM: what disease(s) if pathogenic? | benign | TATATTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACT... | TATATTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACT... | benign | 185,853 |
Does the variant on chromosome 11 at location 108310143 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGT... | TTTAATTTGTGTGATATTTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGT... | benign | 185,855 |
Variant in ATM, chromosome 11, position 108310160—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATC... | TTATATCTCCTTGCAGTAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATC... | pathogenic | 185,865 |
Determine if the mutation at chromosome 11, position 108310176 in gene ATM is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGC... | TAATCCATATTCAGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGC... | pathogenic | 185,870 |
Is the genetic change at chromosome 11, position 108310188, within gene ATM benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTT... | AGGATAGCAGTTTGGTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTT... | pathogenic | 185,874 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108310202, gene ATM: what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTC... | GTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTC... | pathogenic | 185,879 |
Considering the genetic mutation at chromosome 11, position 108310202, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTC... | GTTAAATCAGTGTCAAGAACTCTCAATTCTAGTACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTC... | pathogenic | 185,880 |
A genetic variant at chromosome 11, position 108310235, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTT... | ACCAGCTGTACCAGTAACCATGTTACCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTT... | pathogenic | 185,887 |
Regarding the variant at chromosome 11 and position 108310260, affecting gene ATM: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTA... | CCTTTGTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTA... | pathogenic | 185,894 |
A mutation at chromosome position 108310265 on chromosome 11 in gene ATM: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGT... | GTTAAATTATGCAGCCTTCTTGGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGT... | pathogenic | 185,898 |
Does the variant on chromosome 11 at location 108310286 affecting gene ATM have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | GGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAAT... | GGCTCCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAAT... | pathogenic | 185,905 |
Clinical significance of chromosome 11, position 108310290, gene ATM: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGAT... | CCAATTTATTTCATCTATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGAT... | pathogenic | 185,907 |
Considering the genetic mutation at chromosome 11, position 108310305, impacting ATM: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGATGGTCTGACTGATGAG... | TATGTTAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGATGGTCTGACTGATGAG... | pathogenic | 185,911 |
Evaluate if the mutation on chromosome 11 at position 108310310 in ATM is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGATGGTCTGACTGATGAGTACTG... | TAGGGATAGGAGCAAGTGTTTTTCCAAGTTACATTTAGCTGTATTACCCCTCTTTTTACTTTTCTCTTTGCTTTAGTTCTAAGAAGTAAATAGAGTTGTGTAAATGTCTTCTTTATGTATCTTTATTTTAAGATGTAAGTTTCTTTACTGTGTGCAGTGGTCTCAAAATCTGTGGCAATACTGTGCTGTGACAATGTTTATTTTCTTGTTTCTGGTAAATTGTTTTATAGTATAGTATCTTTGTTCCTGTTATTTCTCATGAGATTTTTAACAGTGCATACAGAAATTGCTAGAATGGATGGTCTGACTGATGAGTACTG... | pathogenic | 185,913 |
A genetic alteration at chromosome 11, position 108312392, in gene ATM—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AAAATTAATGTTGGCATTGTCTCAATAAGGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTA... | AAAATTAATGTTGGCATTGTCTCAATAAGGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTA... | benign | 185,923 |
A genetic variant at chromosome 11, position 108312404, affecting gene ATM—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGCATTGTCTCAATAAGGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGA... | GGCATTGTCTCAATAAGGGTATATAGTAAAGATTTATTTTGCCTCCTGTTCCCCATTTAAAAGATATTTTAGATAGAAATTTTGTTTTAAAGTGAAATTATAATAAATTTTTAAAAAGGAATATGTAATTCCTGTTCTGAAATAATAGGAATGCTTATTACTTAGGTATTATAAAAATTTAACAGATAGCAAATTCCTATAGGACAGAGTCCATACTTAATTTTCTGTATATTCCCCATAATAGCCCTAGCATTGAGAACTTAATTTAAGGGTGATAAATATTTTTCAAATGATTAAATTATTTCCTAACTTCAGTCAGA... | benign | 185,927 |
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