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 |
|---|---|---|---|---|---|
Variant on chromosome 11, at position 108284370, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Cardiac_valvular_dysplasia,_X-linked', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAAT... | CTTGCTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAAT... | pathogenic | 185,045 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 108284374, gene ATM (ATM serine/threonine kinase): what disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTA... | CTATGTTGCCCAAGCTGGTCTTGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTA... | pathogenic | 185,047 |
Clinical significance of chromosome 11, position 108284395, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTAT... | TGAACTCTTGGGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTAT... | pathogenic | 185,053 |
Located at chromosome 11 position 108284405, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATT... | GGCTTAAGCAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATT... | pathogenic | 185,057 |
Variant chromosome 11, position 108284413, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAA... | CAACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAA... | pathogenic | 185,061 |
Variant in gene ATM (ATM serine/threonine kinase), located at chromosome 11 position 108284414: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAAC... | AACCCTCCCTCCTCAGACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAAC... | pathogenic | 185,062 |
Variant chromosome 11, position 108284430, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAACACATTGACTTTTTGGT... | ACTCCCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAACACATTGACTTTTTGGT... | pathogenic | 185,067 |
Variant on chromosome 11, at position 108284434, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAACACATTGACTTTTTGGTTCGT... | CCAAAGCGTTGGGATTACAGGTGTGAACCACCACTGGCCAGTAATTTTACATTAAATCTTCCTTTAAGTATAACCAAATGTTGGAAACTCTTAGCATATTTTTATATTTTTATTTACTTAACATTTATTAAGGGTTTGCTATGTGTCAGATACTGTGCCAGTTGAGTACATTTTCTTAATTATTATTCCCATCTCATAGATGAGGAAATCAAGAAAAGTTGAATGAATGTTGTTTCTAGGTCCTACTCTAAATAATATTAACAAGCATTTAAATGATTTATTTTTTTCATTTTTCTTAACACATTGACTTTTTGGTTCGT... | pathogenic | 185,069 |
The mutation in gene ATM (ATM serine/threonine kinase) at chromosome 11, position 108287478—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ATAATCATTTATATACATTTCCAAAATTTTTTGAAGCAACTTATATTAAAACATACATACAAATTTTTTAAGATAAAAAAGCTGTGGTCACCCCACATTTATGTATGTATTTATTTATTTTGGATATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTT... | ATAATCATTTATATACATTTCCAAAATTTTTTGAAGCAACTTATATTAAAACATACATACAAATTTTTTAAGATAAAAAAGCTGTGGTCACCCCACATTTATGTATGTATTTATTTATTTTGGATATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTT... | benign | 185,088 |
Does the variant on chromosome 11 at location 108287600 affecting gene ATM (ATM serine/threonine kinase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GATATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTAC... | GATATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTAC... | pathogenic | 185,099 |
Does the genetic variant at chromosome 11, position 108287603, 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'] | ATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTAT... | ATAAGTAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTAT... | pathogenic | 185,101 |
The chromosome 11, position 108287608 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'] | TAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTT... | TAAGGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTT... | pathogenic | 185,103 |
Is the genetic mutation found on chromosome 11 at position 108287611, within the gene ATM (ATM serine/threonine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCT... | GGGATAAGTAACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCT... | pathogenic | 185,104 |
Does the genetic variant at chromosome 11, position 108287621, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTC... | ACCAAACTTGGTCAATATTAGATAAACTTCAAGGGACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTC... | pathogenic | 185,106 |
Regarding the variant found on chromosome 11 at position 108287656 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAG... | ACCTTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAG... | pathogenic | 185,119 |
Is the variant located on chromosome 11 at position 108287659, 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'] | TTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTT... | TTTTTTTTTTTTAGTTTCCTAGTTATCTATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTT... | pathogenic | 185,121 |
Mutation found at chromosome 11 position 108287687, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACT... | ATATTGAACCAAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACT... | pathogenic | 185,129 |
Is the genetic change at chromosome 11, position 108287697, within 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'] | AAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAA... | AAGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAA... | pathogenic | 185,132 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108287698 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'] | AGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAAC... | AGAAATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAAC... | pathogenic | 185,134 |
Evaluate this variant at chromosome 11, position 108287701, 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', 'Inherited_breast_cancer_and_ovarian_cancer'] | AATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCT... | AATGGAACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCT... | pathogenic | 185,137 |
Determine if the mutation at chromosome 11, position 108287707 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'] | ACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCTTGCCTC... | ACAGCAAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCTTGCCTC... | pathogenic | 185,139 |
The genetic variant at chromosome 11, position 108287712, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCTTGCCTCAAGAA... | AAGTTCCTTAGTTGCTTAGGTGGACCTATTCAGAACTGGTTGTAAGTCTGCAGTCTGAAGGGAAATGGTGAGCAGAGGACTCCTTTCCCAAAGACAGCTGGAACAGAAATAGGCACTCCAGAGGTTATGGAATTTGAGAGAGATACTCAGCCTCTAGCCACTCCCATTCAATCTCCCAGCTTAGTCTTCTGAGCATTCTTAATCTTACTATTCTTTTCTTAATGTATTCAAACCAAAAGACAGCAATTTTTAGAGCCTGAATAGGTTTTGGAGGGAAAAGTAATTACGTTCAACTTCGATTGAAACTCTTGCCTCAAGAA... | pathogenic | 185,142 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108288954, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | benign | TTAAGACTTCACAATTCTCATTCATTTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAA... | TTAAGACTTCACAATTCTCATTCATTTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAA... | benign | 185,156 |
A genetic variant at chromosome 11, position 108288975, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCATTTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGAT... | TCATTTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGAT... | pathogenic | 185,164 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108288979—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAG... | TTAACTAAAGTGCAACATAGCAGACTTATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAG... | pathogenic | 185,167 |
Considering the variant on chromosome 11, location 108289006, involving gene ATM (ATM serine/threonine kinase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTT... | ATTCTTTATATTTAGAGAATTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTT... | pathogenic | 185,174 |
Variant at chromosome 11, position 108289025, 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'] | TTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACC... | TTTGTGTCTTTTGTGAAGCTACCTGTCTATAGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACC... | pathogenic | 185,184 |
Clinical significance of chromosome 11, position 108289055, 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'] | AGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAG... | AGTGGGAAGTAGATTAATGAAAAGTCCAAATCTGTTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAG... | pathogenic | 185,194 |
Chromosome 11, position 108289089, gene ATM (ATM serine/threonine kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAAT... | TTGGGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAAT... | pathogenic | 185,200 |
Variant chromosome 11, position 108289092, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGG... | GGGAGGGTTTTATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGG... | pathogenic | 185,201 |
Determine if the mutation at chromosome 11, position 108289102 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'] | TATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGG... | TATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGG... | pathogenic | 185,203 |
Assess the variant on chromosome 11, position 108289102, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGG... | TATTCTACTATTGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGG... | pathogenic | 185,204 |
Evaluate if the mutation on chromosome 11 at position 108289113 in ATM (ATM serine/threonine kinase) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGGCCTTGTTTGGC... | TGATGAAAGGGGATGTGGATCGCAGCTAGCCTTAGAATTTGGGATGGCACTCAAGTAGAAGTCTGGGAAGAAGTTACGCAGGGAACAAAGATGACATTGTTCGCAGTCCCTGGGAATTCTTAACAGTAAAGTTCTGTAATTGAGACAGAATTCCCAAATAAAGTCAAGAGTAAAATTCAGATAGAGGAGCAGTTATACATCAGTGGGAAATTTGGTTGGCAGAAAAATTACCAGGTCATACAACTTAATGATAGACCTGAAGTCTTATTTAAAATGATTCTCTAAAATTGAAGAATTGGATTAAGGGGGCCTTGTTTGGC... | benign | 185,211 |
For chromosome 11, position 108289587, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AGCTGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAA... | AGCTGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAA... | benign | 185,219 |
Does the genetic variant at chromosome 11, position 108289587, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGCTGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAA... | AGCTGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAA... | benign | 185,220 |
Does the genetic variant at chromosome 11, position 108289590, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTG... | TGTCTTGACGTTCACAGATATAAAATATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTG... | benign | 185,222 |
Variant at chromosome position 108289616, 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'] | ATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCA... | ATTAAATATATTTTAATTTTGTGCCCTTGCAGATTGATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCA... | pathogenic | 185,230 |
Evaluate the clinical significance of the mutation at chromosome 11, position 108289651 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'] | GATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGA... | GATCACTTATTCATTAGTAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGA... | pathogenic | 185,235 |
Assess the variant on chromosome 11, position 108289668, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAAC... | TAATTTACCAGAGATTGTGGTGGAGTTATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAAC... | pathogenic | 185,240 |
Clinical significance of chromosome 11, position 108289695, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGT... | ATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGT... | pathogenic | 185,249 |
For chromosome 11, position 108289695, 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'] | ATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGT... | ATTGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGT... | pathogenic | 185,250 |
A genetic variant at chromosome 11, position 108289697, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAA... | TGATGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAA... | pathogenic | 185,253 |
Assess the variant on chromosome 11, position 108289700, impacting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATAT... | TGACGTTACATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATAT... | pathogenic | 185,255 |
Is the genetic mutation found on chromosome 11 at position 108289708, 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'] | CATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACAT... | CATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACAT... | pathogenic | 185,259 |
Variant chromosome 11, position 108289708, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACAT... | CATGAGCCAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACAT... | pathogenic | 185,260 |
Variant on chromosome 11, at position 108289715, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCA... | CAGCAAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCA... | pathogenic | 185,262 |
Variant chromosome 11, position 108289719, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTG... | AAATTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTG... | pathogenic | 185,264 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108289722—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTG... | TTCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTG... | pathogenic | 185,266 |
Mutation at chromosome 11, position 108289723, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGG... | TCTAGTGCCAGTCAGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGG... | pathogenic | 185,267 |
Determine if the mutation at chromosome 11, position 108289736 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'] | AGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTT... | AGAGCACTGACCTCTGTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTT... | pathogenic | 185,271 |
Does the chromosome 11 mutation at position 108289751 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast'] | GTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACAT... | GTGACTTTTCAGGGTATGTACATTTTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACAT... | pathogenic | 185,275 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108289775: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast'] | TTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTAT... | TTAAACTTAGAGAACTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTAT... | pathogenic | 185,284 |
A genetic variant at chromosome 11, position 108289789, affecting gene ATM (ATM serine/threonine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTATCTAGGTCTTGCCTT... | CTAGCTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTATCTAGGTCTTGCCTT... | pathogenic | 185,288 |
Is chromosome 11, position 108289793, gene ATM (ATM serine/threonine kinase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | CTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTATCTAGGTCTTGCCTTTCTA... | CTCTAACTTCACAAGTTTTTAAAGAAGTTTATTGGTTGACACCTTCAATGTCTATTTCAATTTATAGACATCACTCTTTTTAAAAAATTTTCTTTAAAAATAGCCACCTTTGAATTGAGGTAATTACCTATCCTCTTTTACCATAGTCTCCCCACAGTAATTACTCTTTCTAAATTGACCACTTGGTTGGCCAACCCAATAACCTTTTCTTAGTCTTTCTGTAATATTTGAACATTGTGCCATCTGTTGGCCCTTGAAATTTTTTTCTTCATACACATTATTCCTAGTTCTCTTCTCTTTATCTAGGTCTTGCCTTTCTA... | pathogenic | 185,289 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108292596—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTGCGCTCAGGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAAT... | TTGCGCTCAGGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAAT... | benign | 185,302 |
Is the variant located on chromosome 11 at position 108292596, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTGCGCTCAGGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAAT... | TTGCGCTCAGGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAAT... | benign | 185,303 |
Located at chromosome 11 position 108292605, the variant affecting gene ATM (ATM serine/threonine kinase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAG... | GGAGGCAGAGGTTACAGGTTACAGTGAGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAG... | benign | 185,306 |
Regarding the variant found on chromosome 11 at position 108292631 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATAT... | AGCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATAT... | pathogenic | 185,319 |
The chromosome 11, position 108292632 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'] | GCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATT... | GCAAAGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATT... | pathogenic | 185,320 |
Evaluate this variant at chromosome 11, position 108292636, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAG... | AGATTGTGCCACTACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAG... | pathogenic | 185,321 |
Is the genetic variant on chromosome 11, position 108292648, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | TACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCC... | TACACTCCAGCCTGGGAGACAGAGCGAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCC... | pathogenic | 185,328 |
Variant on chromosome 11, at position 108292673, affecting ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTG... | GAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTG... | pathogenic | 185,336 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108292702, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome'] | AAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCAC... | AAAAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCAC... | pathogenic | 185,346 |
A mutation at chromosome position 108292704 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'] | AAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGC... | AAAAAAAAAAAAGAAAATTATCCAAGTATGATGATATGCGCCTGTAGTTCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGC... | pathogenic | 185,348 |
Is the chromosome 11, position 108292752 variant in ATM (ATM serine/threonine kinase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTC... | TCTAGCTACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTC... | pathogenic | 185,360 |
Is the variant located on chromosome 11 at position 108292758, 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'] | TACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGA... | TACTTAGGAGGCTGAGGTAGGAGGATGGCTTGAGCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGA... | pathogenic | 185,362 |
Does the chromosome 11 mutation at position 108292791 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | GCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCC... | GCTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCC... | pathogenic | 185,373 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108292792, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG... | CTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG... | pathogenic | 185,374 |
Does the genetic variant at chromosome 11, position 108292792, 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'] | CTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG... | CTCAAGAGTTTGAGGCTGCCAGTGAGCCTTGATTGCACCACTGCATTCATGCCTGGGCAACAGAGTGAGACTTTCACTCAATTAAAAAAAAAAAAAAAAGCACTACTTCTCCAATTCTAGAAATCTTAAGAAGGATCTTCAACATTTTAATACTAATATTCTAGCTATTGATGGCCTCAAATAAATGTTACTATAGAATTGGGGTTGTTCGGCCGGGTGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG... | pathogenic | 185,375 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108293305—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['ATM-related_disorder', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAACAAAACAAGAATTGGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGT... | AAACAAAACAAGAATTGGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGT... | pathogenic | 185,389 |
Clinically, how would you classify the variant at chromosome 11, position 108293312, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGAATTGGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATT... | ACAAGAATTGGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATT... | pathogenic | 185,391 |
A genetic variant on chromosome 11, position 108293321, 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'] | GGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAG... | GGGGTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAG... | pathogenic | 185,394 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 108293324, gene ATM (ATM serine/threonine kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGT... | GTTGTTCAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGT... | pathogenic | 185,395 |
Does the variant on chromosome 11 at location 108293330 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'] | CAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACA... | CAATTTAGCATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACA... | pathogenic | 185,399 |
Does the genetic variant at chromosome 11, position 108293338, impacting gene ATM (ATM serine/threonine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGT... | CATCTCTGATCTTTTCCATTGATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGT... | pathogenic | 185,401 |
Is the genetic variant on chromosome 11, position 108293358, 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'] | GATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGT... | GATTTTAATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGT... | pathogenic | 185,404 |
Variant in ATM (ATM serine/threonine kinase), chromosome 11, position 108293364—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTC... | AATGAGATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTC... | pathogenic | 185,406 |
Does the chromosome 11 mutation at position 108293369 within gene ATM (ATM serine/threonine kinase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGA... | GATTTCTATTTTTTAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGA... | pathogenic | 185,411 |
Is the variant located on chromosome 11 at position 108293382, gene ATM (ATM serine/threonine kinase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCT... | TAAGGTCTTTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCT... | pathogenic | 185,416 |
Variant at chromosome 11, position 108293390, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGT... | TTTTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGT... | pathogenic | 185,417 |
Considering the genetic mutation at chromosome 11, position 108293392, impacting ATM (ATM serine/threonine kinase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGT... | TTTATTGTGGTAAACTATATAACATAAAATTTTTTATTTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGT... | pathogenic | 185,418 |
Benign or pathogenic: chromosome 11, position 108293429, gene ATM (ATM serine/threonine kinase) variant? Disease(s) if pathogenic? | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | TTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAA... | TTTCGCCATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAA... | pathogenic | 185,426 |
Clinically, how would you classify the variant at chromosome 11, position 108293436, 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'] | ATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTT... | ATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTT... | pathogenic | 185,430 |
Mutation found at chromosome 11 position 108293436, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | ATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTT... | ATTAAATGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTT... | pathogenic | 185,432 |
Gene mutation in ATM (ATM serine/threonine kinase) at chromosome 11, position 108293442—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATG... | TGGCCAGTTCAGTAGCATCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATG... | pathogenic | 185,433 |
Does the genetic variant at chromosome 11, position 108293459, 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'] | TCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAG... | TCAATTACATTTCCATTGTTGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAG... | pathogenic | 185,438 |
Mutation at chromosome 11, position 108293478, within ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTT... | TGTGCAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTT... | pathogenic | 185,448 |
Is the genetic change at chromosome 11, position 108293482, within gene ATM (ATM serine/threonine kinase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTTGCAG... | CAACCATCACCACTGTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTTGCAG... | benign | 185,451 |
For chromosome 11, position 108293496, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTTGCAGATTGGCTTTATGCT... | GTCTATGTCCAAACTTTCATTATCTCAAACTGAACCTCTCTACTCATTCCACAATAACTCCACATTCCTCCTCCCCACTGGCCATTGAGAAACTAATCTATTTTCTGTCTCAATGAATTTGCCTATTGTAGATATTTTAATCTAGAGTTGTACAATATATGTCCTTTTGTGTCTTGCCTTGTGTGGTCACTGAAAACTTTGTACCTTAGCTTGTGTTTAGATAGTGTTTGATAGAGATTTCCTTGGATACCAAGAGTGTTGGGATGAGGAAGCATGAGAGGAGAAAACTTTTCCTAGTGTTTGCAGATTGGCTTTATGCT... | benign | 185,454 |
Variant at chromosome 11, position 108294913, gene ATM (ATM serine/threonine kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | benign | 185,459 |
Does the variant impacting ATM (ATM serine/threonine kinase) on chromosome 11, position 108294913, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | benign | 185,460 |
Evaluate this variant at chromosome 11, position 108294913, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | TATGTTTATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATC... | benign | 185,462 |
Clinically, how would you classify the variant at chromosome 11, position 108294920, gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | ATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACG... | ATTTGGTATAATTGGTGATTTTATTGAGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACG... | benign | 185,464 |
Is the genetic variant on chromosome 11, position 108294946, 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'] | AGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAG... | AGAATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAG... | pathogenic | 185,468 |
Clinical significance of chromosome 11, position 108294948, gene ATM (ATM serine/threonine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast'] | AATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGT... | AATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGT... | pathogenic | 185,470 |
Regarding the variant at chromosome 11 and position 108294949, affecting gene ATM (ATM serine/threonine kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTT... | ATATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTT... | pathogenic | 185,471 |
The mutation impacting ATM (ATM serine/threonine kinase) on chromosome 11 at position 108294951: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['ATM-related_disorder', 'Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAA... | ATTTTTTGTAAAATGATTGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAA... | pathogenic | 185,472 |
For chromosome 11, position 108294968, gene ATM (ATM serine/threonine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTAT... | TGGAAAAATATTCTTAATGAATTAACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTAT... | pathogenic | 185,476 |
Determine whether the variant at chromosome 11, position 108294991, 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'] | AACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTAC... | AACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTAC... | pathogenic | 185,484 |
Regarding the variant found on chromosome 11 at position 108294992 in gene ATM (ATM serine/threonine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Ataxia-telangiectasia_syndrome', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACT... | ACCTTTGTAATCAATTACAGAGCACTTGGTACTTTTGATAGTTTTATCTACTGTGCTGAAGTAGAGAGGTAGTCAAAACTAGGGATAGCAGTTCGCAACGTTATGGTGGTATTTGAGTTACTACTTATATAAACTGTTTCATTAATATTGGCATTTTTTTTAACCTCAGTACCCATCTTGTAGTAGTACCTTACATAGTTATTGAATTATTTGAAAACACAGAAACTAAAAGCTGGGTATCTTAGACGTAATTAGAACATTTAATCTGATCTAGGTTAATAGATTTTATCATTTATTACAGTAAGTTTTGTTGGCTTACT... | pathogenic | 185,485 |
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