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 |
|---|---|---|---|---|---|
Evaluate if the mutation on chromosome 21 at position 34834550 in RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGG... | GTATAAATGGCCAGTTAGGCAACGAGAGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGG... | pathogenic | 318,339 |
A genetic variant at chromosome 21, position 34834576, affecting gene RUNX1 (RUNX family transcription factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACA... | AGACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACA... | pathogenic | 318,346 |
The chromosome 21, position 34834577 genetic variant in gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACAC... | GACTAAGAAAACAGTCTTCCTTTTGATTTTACACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACAC... | pathogenic | 318,347 |
Variant in RUNX1 (RUNX family transcription factor 1), chromosome 21, position 34834609—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCC... | ACATGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCC... | benign | 318,354 |
Does the variant impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21, position 34834612, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCCCAA... | TGAATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCCCAA... | benign | 318,358 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 34834615, gene RUNX1 (RUNX family transcription factor 1): what disease(s) if pathogenic? | benign | ATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCCCAAAAC... | ATAGATGATGTGAATTAGTTTTCTGAAGATTATGTGAATTAGTTTAAATGACCTTAAAGGCAAGATGAAAGAATCTCCTTGAGAGTTGTATCCTCTTTGGAAGCAAAGTATTGTTTTGCCCCAAGCCCATCTCGCTCACTGAACATACCATTTGACTTAATTTACCATATACGCTTGTATTTTGGAATTTAAAAAAAATCAATGTACACATTTTAAATCATTATTAATGATTATTATGTAACAGGAAACCAGTGGTTTCATGGATCCTCTTCCTAAATACACCTAAATGAACCTATAGATGACAGGCAGCCCCCCAAAAC... | benign | 318,361 |
Is the genetic mutation found on chromosome 21 at position 34859485, within the gene RUNX1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ATGTTACAGGAAATGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTT... | ATGTTACAGGAAATGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTT... | pathogenic | 318,384 |
Is chromosome 21, position 34859489, gene RUNX1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TACAGGAAATGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGT... | TACAGGAAATGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGT... | pathogenic | 318,388 |
A mutation at chromosome position 34859498 on chromosome 21 in gene RUNX1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTT... | TGCTGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTT... | pathogenic | 318,396 |
Located at chromosome 21 position 34859501, the variant affecting gene RUNX1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTG... | TGGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTG... | pathogenic | 318,399 |
A genetic alteration at chromosome 21, position 34859502, in gene RUNX1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGT... | GGCAGTGAGGCAAAACCCAGCCTTCTTTATGCATGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGT... | pathogenic | 318,401 |
Variant in gene RUNX1, located at chromosome 21 position 34859535: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCC... | TGAGGAAATAAGAGAAGTAGAGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCC... | pathogenic | 318,409 |
Variant in RUNX1, chromosome 21, position 34859555—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTG... | AGGGTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTG... | pathogenic | 318,413 |
Considering the genetic mutation at chromosome 21, position 34859558, impacting RUNX1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTGGAA... | GTATACCCAGGGTCACCTGGCTTCGGCTTCTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTGGAA... | pathogenic | 318,414 |
Is the genetic mutation found on chromosome 21 at position 34859587, within the gene RUNX1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTGGAAACCTAAGAAGAGCTCACAGTCATTCCTTA... | CTTCAGGCTGGTCGGCATTTCAACTGTCCCAGAGACGGCTGTTGCTTCTAGTTCTAAATACAGTGGTTCTACAGCCTCCTGAAGGAGCATTTCTCTAAGTTTAGTCACCCTCAAAGTCGATTTTCTTATACCTAACAACTGCCTCCCTCCCAGCCAGGCCCCTTGCCATAATTCAAGCCTGCTTCCTCTTTGGTCCTCTGTGGAGAACAAACTTGCTTTGGTGTTTATGTTCTGTTTAATGCAGGGTTACATTAACGTAGGAATGTCCAGGTTGACATTCCTACTCTGGAAACCTAAGAAGAGCTCACAGTCATTCCTTA... | benign | 318,421 |
A genetic variant on chromosome 21, position 34880553, affects the gene RUNX1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTCTGTTCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGG... | GTCTGTTCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGG... | pathogenic | 318,449 |
Is the genetic variant on chromosome 21, position 34880556, gene RUNX1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TGTTCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTT... | TGTTCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTT... | pathogenic | 318,452 |
Does the chromosome 21 mutation at position 34880559 within gene RUNX1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACT... | TCAAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACT... | pathogenic | 318,456 |
Considering the variant on chromosome 21, location 34880561, involving gene RUNX1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGT... | AAAATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGT... | pathogenic | 318,457 |
Evaluate if the mutation on chromosome 21 at position 34880563 in RUNX1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGC... | AATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGC... | pathogenic | 318,461 |
Does the chromosome 21 mutation at position 34880563 within gene RUNX1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGC... | AATATTGTCTGTTTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGC... | pathogenic | 318,462 |
Determine if the mutation at chromosome 21, position 34880575 in gene RUNX1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAG... | TTATGGCATTTCAATTAATTTTCTCATTCCAGAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAG... | pathogenic | 318,468 |
Gene RUNX1 variant at chromosome position 34880606 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCA... | GAGTATGGGAAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCA... | pathogenic | 318,476 |
Classify the chromosome 21 variant at position 34880615 affecting gene RUNX1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGG... | AAGACAGCCCAGCCTTGGTTGCAGCTATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGG... | pathogenic | 318,477 |
Is chromosome 21, position 34880640, gene RUNX1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTT... | TATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTT... | pathogenic | 318,483 |
Considering the genetic mutation at chromosome 21, position 34880640, impacting RUNX1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTT... | TATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTT... | pathogenic | 318,484 |
For chromosome 21, position 34880641, gene RUNX1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | ATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTT... | ATTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTT... | pathogenic | 318,485 |
A genetic variant at chromosome 21, position 34880642, affecting gene RUNX1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTA... | TTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTA... | pathogenic | 318,486 |
Clinical classification of chromosome 21, position 34880642, gene RUNX1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTA... | TTTTACTTTTTGGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTA... | pathogenic | 318,487 |
A genetic alteration at chromosome 21, position 34880653, in gene RUNX1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACC... | GGGGTTTATGCAAACTCAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACC... | pathogenic | 318,491 |
Chromosome 21, position 34880669, gene RUNX1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCAC... | CAAGGGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCAC... | pathogenic | 318,496 |
Determine if the mutation at chromosome 21, position 34880673 in gene RUNX1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAG... | GGCATACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAG... | pathogenic | 318,498 |
Evaluate if the mutation on chromosome 21 at position 34880678 in RUNX1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCA... | ACTGGCACGAATCCTGCAGCCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCA... | pathogenic | 318,500 |
The chromosome 21, position 34880697 genetic variant in gene RUNX1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | CCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTT... | CCAAATGCAAACACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTT... | pathogenic | 318,504 |
Gene mutation in RUNX1 at chromosome 21, position 34880708—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTTTCTCTAGAAAA... | CACTCCACACCTTGGGGAAACAGTTCACTGTTACCCAAGTAAACACAAGCACCTATTAGTCACCCACTCAAAACAGAAATGGTCAATGAGGGATGCAAGATCAGCCATCAATGCCAGAAAAGAAAGCACACTGCTTTCAAAATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTTTCTCTAGAAAA... | pathogenic | 318,506 |
A genetic alteration at chromosome 21, position 34880849, in gene RUNX1—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTTTCTCTAGAAAAGCAATTCAATGATACTTAGCTATTGATTCCTAACAGCAGAAATCCACAAGAACTGAATTAAGAGAGTTAGCTAGGCCGATGGGCATGGACCAGGCTGTGGGGCCTTTGTTTTTTATTGGCTTCTCACCCACTCTGCCAGCT... | ATCTCATTTTTTTATTATCACTGGTTTACTGTGCATTGCCGGAAAGCCACTACTGAACTTCTTGTGGGAAAATGTCACTGGCACGGATCACTAAATAGTTTTTAAAACTTTTATGACCAAAACCTAACTTGAAGACCCACACAGATGCATAGTATGATGATAACACTTTCTCTAGAAAAGCAATTCAATGATACTTAGCTATTGATTCCTAACAGCAGAAATCCACAAGAACTGAATTAAGAGAGTTAGCTAGGCCGATGGGCATGGACCAGGCTGTGGGGCCTTTGTTTTTTATTGGCTTCTCACCCACTCTGCCAGCT... | benign | 318,514 |
A genetic variant at chromosome 21, position 34886854, affecting gene RUNX1 (RUNX family transcription factor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AAATGTTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTT... | AAATGTTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTT... | pathogenic | 318,534 |
Is the chromosome 21, position 34886859 variant in RUNX1 (RUNX family transcription factor 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTG... | TTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTG... | pathogenic | 318,536 |
Evaluate this variant at chromosome 21, position 34886859, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTG... | TTCTCAGGGGATCTGCTTGAACTTTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTG... | pathogenic | 318,537 |
For chromosome 21, position 34886882, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'RUNX1-related_disorder'] | TTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAG... | TTTTTCAAGAGCTCTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAG... | pathogenic | 318,553 |
Variant in RUNX1 (RUNX family transcription factor 1), chromosome 21, position 34886895—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCC... | CTGTATTTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCC... | pathogenic | 318,558 |
Does the genetic variant at chromosome 21, position 34886901, impacting gene RUNX1 (RUNX family transcription factor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1', 'RUNX1-related_disorder'] | TTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAA... | TTGGATTTTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAA... | pathogenic | 318,561 |
The mutation in gene RUNX1 (RUNX family transcription factor 1) at chromosome 21, position 34886908—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAG... | TTTAGTAGCCTATAGATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAG... | pathogenic | 318,563 |
The mutation impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21 at position 34886923: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | ATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAG... | ATTATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAG... | pathogenic | 318,566 |
Variant on chromosome 21, at position 34886925, affecting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAG... | TATCACTCAATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAG... | pathogenic | 318,567 |
Evaluate if the mutation on chromosome 21 at position 34886933 in RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTG... | AATAAAACAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTG... | pathogenic | 318,570 |
Determine if the mutation at chromosome 21, position 34886940 in gene RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGG... | CAAATTAATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGG... | pathogenic | 318,574 |
The mutation impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21 at position 34886946: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCC... | AATTGTTTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCC... | pathogenic | 318,578 |
Regarding the variant found on chromosome 21 at position 34886952 in gene RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | TTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTT... | TTTTAAGTGAATTGCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTT... | pathogenic | 318,581 |
Clinical classification of chromosome 21, position 34886965, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGG... | GCCAAAAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGG... | pathogenic | 318,583 |
Variant on chromosome 21, at position 34886970, affecting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome'] | AAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTT... | AAGTCATTTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTT... | pathogenic | 318,584 |
Evaluate if the mutation on chromosome 21 at position 34886977 in RUNX1 (RUNX family transcription factor 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCC... | TTTAAAAAGGAAACTCTATGGTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCC... | pathogenic | 318,587 |
Evaluate this variant at chromosome 21, position 34886997, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Acute_myeloid_leukemia', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | GTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTA... | GTTATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTA... | pathogenic | 318,594 |
Mutation at chromosome 21, position 34887000, within RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCT... | ATTATGGTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCT... | pathogenic | 318,595 |
Clinical classification of chromosome 21, position 34887006, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'RUNX1-related_disorder'] | GTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGT... | GTTTCTGCTAGAAAGAATTCTGACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGT... | pathogenic | 318,596 |
The mutation in gene RUNX1 (RUNX family transcription factor 1) at chromosome 21, position 34887028—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Thrombocytopenia'] | ACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTT... | ACAGCTCATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTT... | pathogenic | 318,603 |
Does the genetic variant at chromosome 21, position 34887034, impacting gene RUNX1 (RUNX family transcription factor 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | CATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCC... | CATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCC... | pathogenic | 318,606 |
The mutation impacting RUNX1 (RUNX family transcription factor 1) on chromosome 21 at position 34887035: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | ATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCC... | ATAAAAGCAATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCC... | pathogenic | 318,607 |
Evaluate this variant at chromosome 21, position 34887043, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | AATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAAT... | AATATGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAAT... | pathogenic | 318,609 |
Assess the variant on chromosome 21, position 34887047, impacting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1'] | TGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGG... | TGTATAATTTTTCATTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGG... | pathogenic | 318,611 |
Mutation found at chromosome 21 position 34887061, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome', 'Hereditary_thrombocytopenia_and_hematological_cancer_predisposition_syndrome_associated_with_RUNX1', 'Inborn_genetic_diseases'] | TTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGT... | TTTTTTAGAAGAAAATAAATACTTTCATGTAATGGCTTGAGACTCTGAATTGCTCCAATTCCTGAAGATTATTTATTAATCATTTAGTCTTTTAATATATTTGAGTGTGGGTTCCCTGGCAGAGGAGGGAGTTCAGAAGAGACCCTGATTTCCCCCCCAAAAGGAAGCCACAAATCTCTTAGAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGT... | pathogenic | 318,614 |
Chromosome 21, position 34887242, gene RUNX1 (RUNX family transcription factor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGTCATCGCTGAGTCCATTTAGGCAAAGGGTTAGAATGATTTAAAAGTAAAATGGTCTCCCAAACCCAAATCTAAGTAAACGGAGGGAGGGAAAAAAGAGTCAAGCAAGCCACCACGTTCCTTCGTTCCTTCTCCTCATTTCCACCCCCACTAAAAAACAAAACAAACAAAAAAAACTGCTTTT... | GAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGTCATCGCTGAGTCCATTTAGGCAAAGGGTTAGAATGATTTAAAAGTAAAATGGTCTCCCAAACCCAAATCTAAGTAAACGGAGGGAGGGAAAAAAGAGTCAAGCAAGCCACCACGTTCCTTCGTTCCTTCTCCTCATTTCCACCCCCACTAAAAAACAAAACAAACAAAAAAAACTGCTTTT... | benign | 318,620 |
Variant chromosome 21, position 34887242, gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease(s)? | benign | GAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGTCATCGCTGAGTCCATTTAGGCAAAGGGTTAGAATGATTTAAAAGTAAAATGGTCTCCCAAACCCAAATCTAAGTAAACGGAGGGAGGGAAAAAAGAGTCAAGCAAGCCACCACGTTCCTTCGTTCCTTCTCCTCATTTCCACCCCCACTAAAAAACAAAACAAACAAAAAAAACTGCTTTT... | GAGCCCTAGTGCATTGGGGCAGCCAGGTTTTAATGGCCTTTGGTGGTTATCAGCCCGTCTTGCCTCTGCTCTTTATCTGATAGTGACCCCATGGCCCAACCCTGTTGGGTCCCCTCTCAATGCGGGTGCCCTAAAGAGTCATCGCTGAGTCCATTTAGGCAAAGGGTTAGAATGATTTAAAAGTAAAATGGTCTCCCAAACCCAAATCTAAGTAAACGGAGGGAGGGAAAAAAGAGTCAAGCAAGCCACCACGTTCCTTCGTTCCTTCTCCTCATTTCCACCCCCACTAAAAAACAAAACAAACAAAAAAAACTGCTTTT... | benign | 318,621 |
A genetic alteration at chromosome 21, position 34888505, in gene RUNX1 (RUNX family transcription factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTTTGGGTGTTAATCCAGCGGTAGGGGCAGCAGTAAGTTAGCAGACGGGCTGTCTCTGCCGGGCTGGGTTATAACTTTTCCTACTTTGTATCAAAGCTAAGGCCCCTGCCAGGGAGGTCCCGACCGGCTCCCAGTGGATATCTTTGGGGACACCCTGATGTTTTCAGCCCTCCTGGGAGGCCGCCCCAGAAAGCTGAGACGAGTGCCTCCCGAGGGTCGCCACGGCAACACAGCATCCCCCACATCCCAAGCTAGGAAGACCGACCCGGGGCTGCGGGGGCCCCTTTCCAGAATCCGGCCCCGCCCGCCTGGCCGCTGCC... | GTTTGGGTGTTAATCCAGCGGTAGGGGCAGCAGTAAGTTAGCAGACGGGCTGTCTCTGCCGGGCTGGGTTATAACTTTTCCTACTTTGTATCAAAGCTAAGGCCCCTGCCAGGGAGGTCCCGACCGGCTCCCAGTGGATATCTTTGGGGACACCCTGATGTTTTCAGCCCTCCTGGGAGGCCGCCCCAGAAAGCTGAGACGAGTGCCTCCCGAGGGTCGCCACGGCAACACAGCATCCCCCACATCCCAAGCTAGGAAGACCGACCCGGGGCTGCGGGGGCCCCTTTCCAGAATCCGGCCCCGCCCGCCTGGCCGCTGCC... | benign | 318,622 |
A genetic alteration at chromosome 21, position 34888505, in gene RUNX1 (RUNX family transcription factor 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GTTTGGGTGTTAATCCAGCGGTAGGGGCAGCAGTAAGTTAGCAGACGGGCTGTCTCTGCCGGGCTGGGTTATAACTTTTCCTACTTTGTATCAAAGCTAAGGCCCCTGCCAGGGAGGTCCCGACCGGCTCCCAGTGGATATCTTTGGGGACACCCTGATGTTTTCAGCCCTCCTGGGAGGCCGCCCCAGAAAGCTGAGACGAGTGCCTCCCGAGGGTCGCCACGGCAACACAGCATCCCCCACATCCCAAGCTAGGAAGACCGACCCGGGGCTGCGGGGGCCCCTTTCCAGAATCCGGCCCCGCCCGCCTGGCCGCTGCC... | GTTTGGGTGTTAATCCAGCGGTAGGGGCAGCAGTAAGTTAGCAGACGGGCTGTCTCTGCCGGGCTGGGTTATAACTTTTCCTACTTTGTATCAAAGCTAAGGCCCCTGCCAGGGAGGTCCCGACCGGCTCCCAGTGGATATCTTTGGGGACACCCTGATGTTTTCAGCCCTCCTGGGAGGCCGCCCCAGAAAGCTGAGACGAGTGCCTCCCGAGGGTCGCCACGGCAACACAGCATCCCCCACATCCCAAGCTAGGAAGACCGACCCGGGGCTGCGGGGGCCCCTTTCCAGAATCCGGCCCCGCCCGCCTGGCCGCTGCC... | benign | 318,623 |
Assess the variant on chromosome 21, position 34892914, impacting RUNX1 (RUNX family transcription factor 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CAAGGGAAACCTTTTCGCCTGGTCTCCAATGCATTTCCCCGAGATCCCACCCAGGGCTCCTGGGGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAG... | CAAGGGAAACCTTTTCGCCTGGTCTCCAATGCATTTCCCCGAGATCCCACCCAGGGCTCCTGGGGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAG... | benign | 318,626 |
Chromosome 21, position 34892937, gene RUNX1 (RUNX family transcription factor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCCAATGCATTTCCCCGAGATCCCACCCAGGGCTCCTGGGGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAGTTGGTCCCAGCCTTGCATGCACC... | CTCCAATGCATTTCCCCGAGATCCCACCCAGGGCTCCTGGGGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAGTTGGTCCCAGCCTTGCATGCACC... | benign | 318,631 |
The genetic variant at chromosome 21, position 34892977, affecting gene RUNX1 (RUNX family transcription factor 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAGTTGGTCCCAGCCTTGCATGCACCGAGTTTAGCCGTCAGAGGCAGCGTCGTGGGAGCTGCTCAG... | GGCCACCCCCACGTGCATCCCCCGGAACCCCCGAGATGCGGGAGGGAGCACGAGGGTGTGGCGGCTCCAAAAGTAGGCTTTTGACTCCAGGGGAAATAGCAGACTCGGGTGATTTGCCCCTCGGAAAGGTCCAGGGAGGCTCCTCTGGGTCTCGGGCCGCTTGCCTAAAACCCTAAACCCCGCGACGGGGGCTGCGAGTCGGACTCGGGCTGCGGTCTCCCAGGAGGGAGTCAAGTTCCTTTATCGAGTAAGGAAAGTTGGTCCCAGCCTTGCATGCACCGAGTTTAGCCGTCAGAGGCAGCGTCGTGGGAGCTGCTCAG... | benign | 318,638 |
Located at chromosome 21 position 35049115, the variant affecting gene RUNX1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAGGAGAGCCCCAGGGGCCAGCACTGCACACTGAAACCCAACCTATTGCTCAATGGAATGCTTAAAAATTTCCTGAATCTGCCTTCCTGAGTTGATAAAATAGGAAACAATACACGTTCTGAGGGGGTACTGAAAGCAGAGTAAAGCCAGGAAGATCTTTTTTTTCTGTTATTCTATACAAATATTGCTTCCTCTGCTTGTTAGCAGCCCAGAGGAAATGCAGCCAGGGAGCCGTTTGCAGCTTTTCACCAGTGGCCGGTGTCTCTGTGTTACCAACCAAACGACGCTGCAAGACTAGTGACTAACGCACGTCTGCATGA... | AAGGAGAGCCCCAGGGGCCAGCACTGCACACTGAAACCCAACCTATTGCTCAATGGAATGCTTAAAAATTTCCTGAATCTGCCTTCCTGAGTTGATAAAATAGGAAACAATACACGTTCTGAGGGGGTACTGAAAGCAGAGTAAAGCCAGGAAGATCTTTTTTTTCTGTTATTCTATACAAATATTGCTTCCTCTGCTTGTTAGCAGCCCAGAGGAAATGCAGCCAGGGAGCCGTTTGCAGCTTTTCACCAGTGGCCGGTGTCTCTGTGTTACCAACCAAACGACGCTGCAAGACTAGTGACTAACGCACGTCTGCATGA... | benign | 318,663 |
Variant on chromosome 21, at position 36461294, affecting CLDN14: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | AGGAGGCACCAAGTCAGGAGAGCGTTAGCAGGCCTCAGGCCTTGTTGATTCCGGGGCTCTGGGCTGTGGGCTGCTTGGCCTGCCCTTTCGACACCAGTTCTCAAGCCTCTTGACCACTGTACTAGAGCCTCCCTGGCACTGATACCAGGGTCTCAGCAGGCCATTCAAGCGAGCCTGGCCAGCTGGCTACTGCGGCTCTTCCCTGCATGCAGTGACTGCTGGAACCCTGACTCCCAGACTGCAGAGAATAGAGGGACTTCACGTGACAGCCCCTCTGTGTGTAGGTCTCAGGCCAAGCCCTTCCATGGAGTGAGCTGTTT... | AGGAGGCACCAAGTCAGGAGAGCGTTAGCAGGCCTCAGGCCTTGTTGATTCCGGGGCTCTGGGCTGTGGGCTGCTTGGCCTGCCCTTTCGACACCAGTTCTCAAGCCTCTTGACCACTGTACTAGAGCCTCCCTGGCACTGATACCAGGGTCTCAGCAGGCCATTCAAGCGAGCCTGGCCAGCTGGCTACTGCGGCTCTTCCCTGCATGCAGTGACTGCTGGAACCCTGACTCCCAGACTGCAGAGAATAGAGGGACTTCACGTGACAGCCCCTCTGTGTGTAGGTCTCAGGCCAAGCCCTTCCATGGAGTGAGCTGTTT... | pathogenic | 318,693 |
Is the genetic change at chromosome 21, position 36754236, within gene HLCS (holocarboxylase synthetase) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTCTCCTGCGTGAGGGAGGAGCGCCTGCTGGAAAGCACAGAGCACAGCAGTATGCCCGGAACATCTCCATAGCCTTTGACAAGGCCACACTTCATTAGTTTTAATTTGCAGAAAGGAAATTAAATGATAACATTTTTTCCCAAAGCAGAGTGTCCAGAATAGGACTTCAGCTTAAAACAAAACATAGCATGTTTTTCATTAAATAACCCCCAAAGAAATTCAAAAAGTGATGATGGCAGCTCTGAGAGAGGGCTTGCCTTATATTACAAAGTCTGAGAAATGAAACCTACATCGTTAGCCTCGAGATCTTTGTCCCTGAT... | GTCTCCTGCGTGAGGGAGGAGCGCCTGCTGGAAAGCACAGAGCACAGCAGTATGCCCGGAACATCTCCATAGCCTTTGACAAGGCCACACTTCATTAGTTTTAATTTGCAGAAAGGAAATTAAATGATAACATTTTTTCCCAAAGCAGAGTGTCCAGAATAGGACTTCAGCTTAAAACAAAACATAGCATGTTTTTCATTAAATAACCCCCAAAGAAATTCAAAAAGTGATGATGGCAGCTCTGAGAGAGGGCTTGCCTTATATTACAAAGTCTGAGAAATGAAACCTACATCGTTAGCCTCGAGATCTTTGTCCCTGAT... | benign | 318,721 |
Considering the genetic mutation at chromosome 21, position 36756731, impacting HLCS (holocarboxylase synthetase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | CATCTGCGGTGATGGCTGGAACCACTTCCTCACCTCCCAGCGCTTTTAAGAAACACTGTGCAACTCTAGGTTTTTTGGCTGAGATTGGAGGAAAATAGGCCGAGTTGGCAAACAATGTTTTATCTTATAAAACAAAGTTGGCTCATATCAGCCACAAGTGAAACTCATCCTGATCCTACTTCTTTTGAATATTTTCCAAATGTACTCAAGTCACGTCCTTCTTAACAGCTTTCGAAGTATAGAATTTTCTCAAGTTTTTATTTTGAAGAATTTTAAATCTAAAGAAAAGCTGAAAGAATAGTGCAACAAACCTCATATTC... | CATCTGCGGTGATGGCTGGAACCACTTCCTCACCTCCCAGCGCTTTTAAGAAACACTGTGCAACTCTAGGTTTTTTGGCTGAGATTGGAGGAAAATAGGCCGAGTTGGCAAACAATGTTTTATCTTATAAAACAAAGTTGGCTCATATCAGCCACAAGTGAAACTCATCCTGATCCTACTTCTTTTGAATATTTTCCAAATGTACTCAAGTCACGTCCTTCTTAACAGCTTTCGAAGTATAGAATTTTCTCAAGTTTTTATTTTGAAGAATTTTAAATCTAAAGAAAAGCTGAAAGAATAGTGCAACAAACCTCATATTC... | pathogenic | 318,734 |
Variant on chromosome 21, at position 36759738, affecting HLCS (holocarboxylase synthetase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | GGTCTCAGATTTTAAAACAATATACTGGCTATTAAAATACAAAGCAATTGTCAATTACCTCTGGAAAAAAAACAAGTAACTACAGCAACAGGGGCAGGACTTGCAGTTGCTCACGTATTCATTCATTCAATACATACAGGATCTGAAGCACCTACTGAACGTTCGTAAGGCATTAAATCAAGTGCTGTACAGCACTGAAAATTCTCCCGTGTTCAGAAAACTGGAATTCCTAGGAGGAGTAGCAACACTCACTACTGGCCACTTAGGCTATGTCCTTCTAAGGACCGGTGAGCACCCTGCTGGCTGCTCTGAATCCCCAA... | GGTCTCAGATTTTAAAACAATATACTGGCTATTAAAATACAAAGCAATTGTCAATTACCTCTGGAAAAAAAACAAGTAACTACAGCAACAGGGGCAGGACTTGCAGTTGCTCACGTATTCATTCATTCAATACATACAGGATCTGAAGCACCTACTGAACGTTCGTAAGGCATTAAATCAAGTGCTGTACAGCACTGAAAATTCTCCCGTGTTCAGAAAACTGGAATTCCTAGGAGGAGTAGCAACACTCACTACTGGCCACTTAGGCTATGTCCTTCTAAGGACCGGTGAGCACCCTGCTGGCTGCTCTGAATCCCCAA... | pathogenic | 318,741 |
Is chromosome 21, position 36765158, gene HLCS (holocarboxylase synthetase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Holocarboxylase_synthetase_deficiency', 'Inborn_genetic_diseases'] | TGCCTCCCGAGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCACCCATCACCATGTCTGGCTACTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCCTCCTCAACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGGACTTTCTATTTTGATTGCTTCCTGCTAGACAGAATGCACAGCTCAGGTGCTCAAGGCCGGGCACCTGAAGCCCTGTAATGGTGTGATGCCCCCAAACCATCAGATATGCAAGGATGC... | TGCCTCCCGAGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCACCCATCACCATGTCTGGCTACTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCCTCCTCAACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGGACTTTCTATTTTGATTGCTTCCTGCTAGACAGAATGCACAGCTCAGGTGCTCAAGGCCGGGCACCTGAAGCCCTGTAATGGTGTGATGCCCCCAAACCATCAGATATGCAAGGATGC... | pathogenic | 318,752 |
Mutation at chromosome 21, position 36896882, within HLCS (holocarboxylase synthetase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | CCTAAGGCAGAGGTTTTTTTTTTTTTAAGTTTAATATCAAAAGTGAACTTCCTGATATCCAAGAATATTAAGGCAATATATTTATACAGGTTCTTTTTTCACCCAAAAACACAGGCTGGACAGCGTGTGGTGAAGCCCAGCCCTCTGCGGATGTGCGGGAGCCTCAGCCTGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAG... | CCTAAGGCAGAGGTTTTTTTTTTTTTAAGTTTAATATCAAAAGTGAACTTCCTGATATCCAAGAATATTAAGGCAATATATTTATACAGGTTCTTTTTTCACCCAAAAACACAGGCTGGACAGCGTGTGGTGAAGCCCAGCCCTCTGCGGATGTGCGGGAGCCTCAGCCTGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAG... | pathogenic | 318,764 |
Clinically, how would you classify the variant at chromosome 21, position 36896982, gene HLCS (holocarboxylase synthetase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | ACCCAAAAACACAGGCTGGACAGCGTGTGGTGAAGCCCAGCCCTCTGCGGATGTGCGGGAGCCTCAGCCTGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTT... | ACCCAAAAACACAGGCTGGACAGCGTGTGGTGAAGCCCAGCCCTCTGCGGATGTGCGGGAGCCTCAGCCTGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTT... | pathogenic | 318,765 |
Evaluate if the mutation on chromosome 21 at position 36897051 in HLCS (holocarboxylase synthetase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAA... | TGTCCGCACTCTCAGGGCGTGTGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAA... | pathogenic | 318,766 |
Variant on chromosome 21, at position 36897092, affecting HLCS (holocarboxylase synthetase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | GCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTC... | GCTGCCCTCTTGGTGACGCGCTGCCCTCTTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTC... | pathogenic | 318,767 |
Classify the chromosome 21 variant at position 36897120 affecting gene HLCS (holocarboxylase synthetase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTCCATCTAAAAGAACAGGCTTTTTCCTTTT... | TTGGTGACACGCTGCCTGGCCACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTCCATCTAAAAGAACAGGCTTTTTCCTTTT... | pathogenic | 318,771 |
Gene mutation in HLCS (holocarboxylase synthetase) at chromosome 21, position 36897140—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTCCATCTAAAAGAACAGGCTTTTTCCTTTTCTACTGGGAATCAATGGATG... | CACGAGCTCCAGGACCACACTTCCAAGGTTCCCAGGTGGCAATGACACGAAATATTCTTCAGTATTCTCCACAGAAACAACAAAAATGGCCTGGAAGTACCCGTATTTTTCTATCTGAACTTCACCTCCCCAAATCTTTTGTTCAATAACTTGTCTCATTTTTTTATTCAGAAAATGTAACTATCGCGAGTTACCCCTTCGATATAATGAAGTCTTCGCTTGAGTAACAAAGGATTATTACAGAGTTTGCAACAAGCAAGTGATGACTGTTCCATCTAAAAGAACAGGCTTTTTCCTTTTCTACTGGGAATCAATGGATG... | benign | 318,773 |
Does the variant impacting HLCS (holocarboxylase synthetase) on chromosome 21, position 36930243, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TTGTATTCCAAGAAAACATCATATAAAACCTTGACTTCTGCCATTTCCTTCTACAGCAGATTCAAGGACACCTAAGCAGAGTTAATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTG... | TTGTATTCCAAGAAAACATCATATAAAACCTTGACTTCTGCCATTTCCTTCTACAGCAGATTCAAGGACACCTAAGCAGAGTTAATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTG... | benign | 318,776 |
The mutation in gene HLCS (holocarboxylase synthetase) at chromosome 21, position 36930266—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TAAAACCTTGACTTCTGCCATTTCCTTCTACAGCAGATTCAAGGACACCTAAGCAGAGTTAATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTGAGCCATGATTGCACCACTACACT... | TAAAACCTTGACTTCTGCCATTTCCTTCTACAGCAGATTCAAGGACACCTAAGCAGAGTTAATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTGAGCCATGATTGCACCACTACACT... | pathogenic | 318,778 |
A genetic variant at chromosome 21, position 36930327, affecting gene HLCS (holocarboxylase synthetase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | ATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTGAGCCATGATTGCACCACTACACTCCAGCCTGGGCAACAGAGCAAGACCCTGCCTCAAAAACTAAAAATAAACATTAAGAAATGA... | ATAAACATTAAGAGGCCGGGAGCGCCATGCCTGTAATCCCAACACTTTGGAAAGCCAAGGCAGGCAGATTGCTTGAACTCGGGAGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAGTATTAAAAATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTCGGGGGGCTGAGGTGGGAGGATCGCTTGAGCTTGGGAGGTGGAGGCTGCAGTGAGCCATGATTGCACCACTACACTCCAGCCTGGGCAACAGAGCAAGACCCTGCCTCAAAAACTAAAAATAAACATTAAGAAATGA... | pathogenic | 318,780 |
Variant in HLCS (holocarboxylase synthetase), chromosome 21, position 36936467—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | CCACTGCTGCCATGTGCTAAGCTAAACAAGAAAACAAAATCTTTTAAAATCCCTTTTAAAGATTTTCTGTGGACAACTTCATGGCAAATTCCTGGTCCATTTGACAGTCAAATGTCAGCATTAATCCACAGCCTTAAGTTTTCCCTGCAAACTTGATCAGTACAGCGAGCATACAAACATTTCCTCTCTTTCTTTATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAG... | CCACTGCTGCCATGTGCTAAGCTAAACAAGAAAACAAAATCTTTTAAAATCCCTTTTAAAGATTTTCTGTGGACAACTTCATGGCAAATTCCTGGTCCATTTGACAGTCAAATGTCAGCATTAATCCACAGCCTTAAGTTTTCCCTGCAAACTTGATCAGTACAGCGAGCATACAAACATTTCCTCTCTTTCTTTATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAG... | pathogenic | 318,786 |
Variant on chromosome 21, at position 36936596, affecting HLCS (holocarboxylase synthetase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | AGCCTTAAGTTTTCCCTGCAAACTTGATCAGTACAGCGAGCATACAAACATTTCCTCTCTTTCTTTATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACC... | AGCCTTAAGTTTTCCCTGCAAACTTGATCAGTACAGCGAGCATACAAACATTTCCTCTCTTTCTTTATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACC... | pathogenic | 318,790 |
Is the chromosome 21, position 36936662 variant in HLCS (holocarboxylase synthetase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | ATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATT... | ATTATTATGAATGGCAAAGGCATCAAATCTGCAGCTTACTCGGCTGGGACACCAGTGCCTAGGGTGCAGCTGTGTTCTGCCCTTGAAATACTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATT... | pathogenic | 318,793 |
Variant at chromosome position 36936752, chromosome 21, gene HLCS (holocarboxylase synthetase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | CTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTG... | CTTTACCTCCTCTTATTGGGTTACATCATTACTAGATTTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTG... | pathogenic | 318,796 |
Is the chromosome 21, position 36936789 variant in HLCS (holocarboxylase synthetase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGA... | TTATTACAAAGGTGAAGACTATGAAATTGAACAGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGA... | pathogenic | 318,797 |
Evaluate if the mutation on chromosome 21 at position 36936821 in HLCS (holocarboxylase synthetase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | AGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACA... | AGGGAAAGAGGAAACTAACCAGCCTGTGATAATATTTATTTTTTGATCTCAGTAAGGTATCACAGAGACACAGGCCTGTGGAGAAAACAGTGACCCTGTCACACAGAAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACA... | pathogenic | 318,800 |
Clinically, how would you classify the variant at chromosome 21, position 36936927, gene HLCS (holocarboxylase synthetase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | AAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACAAGTCTGTGCTCAGGGGTGGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTA... | AAGACTGGAAGTCATTTAAAATCAAAAATGACATTCTAATCCTCTGAATCTGATTTGTGAAGCTGCATCATATTGCCTTTTTTTTCTAGGGCAATGCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACAAGTCTGTGCTCAGGGGTGGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTA... | pathogenic | 318,803 |
Considering the genetic mutation at chromosome 21, position 36937022, impacting HLCS (holocarboxylase synthetase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | GCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACAAGTCTGTGCTCAGGGGTGGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCT... | GCACTGCAGTATCAAATTTTATGATAGTAATGGGGTCAATTTAAATGGTGCAGCAAGCAGATTTGCTATGTAACTCGGAGAAATGGATCACAACAGTGCCAAATCAATTTTCTAGTACAAGTCTGTGCTCAGGGGTGGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCT... | pathogenic | 318,808 |
Is the chromosome 21, position 36937158 variant in HLCS (holocarboxylase synthetase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | GGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCA... | GGTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCA... | pathogenic | 318,810 |
Benign or pathogenic: chromosome 21, position 36937159, gene HLCS (holocarboxylase synthetase) variant? Disease(s) if pathogenic? | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | GTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAG... | GTAAAATTCACTCTTCAAAACTGAAATATGGCTCTAGGAAGTCGGGTTTTTAAGTGGATTTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAG... | pathogenic | 318,811 |
Does the chromosome 21 mutation at position 36937218 within gene HLCS (holocarboxylase synthetase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGA... | TTTCTGAGAATATGCAGTTACTATAGTTACAATATTTGCAGAGAAAAAGATAAGAGGAACATTTATTACGCCTCCAAAAGCTAATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGA... | pathogenic | 318,814 |
Chromosome 21, position 36937301, gene HLCS (holocarboxylase synthetase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | ATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGG... | ATTCATGTGGCCTGCAGCACTGCAGGAAACCTGCTTGGGCTGTACGTGTTCATCTGTCCTAATGTCCAAATTCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGG... | pathogenic | 318,816 |
Variant at chromosome 21, position 36937372, gene HLCS (holocarboxylase synthetase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Holocarboxylase_synthetase_deficiency'] | TCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGGAACTCTTCTGGACAAAATATCTACATCTGCGTAGTTTTCTCATTAGAGCATCAAATCCTTTAGGGCAAGTG... | TCCTTAATTTTAAGCATCTCTGCTTGAGTATTATCTTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGGAACTCTTCTGGACAAAATATCTACATCTGCGTAGTTTTCTCATTAGAGCATCAAATCCTTTAGGGCAAGTG... | pathogenic | 318,819 |
Clinical classification of chromosome 21, position 36937407, gene HLCS (holocarboxylase synthetase): benign or pathogenic? Disease(s) if pathogenic? | benign | TTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGGAACTCTTCTGGACAAAATATCTACATCTGCGTAGTTTTCTCATTAGAGCATCAAATCCTTTAGGGCAAGTGAATGTTCATCTAACTCTAATGAAAACCTTTTCCCC... | TTAAGAACAAGTGAGTCGGCTTTAGAATAGTAAAGAAACAAATATATACTCTGGAAAAAAATGTTTGGCCAGAAAATTCAAGAAACTTAGCTTCCAGGAGAACTGGAAAAAGACAAGGCATTACAAAATGAAAACAAAACAAAAAAGGAAACAATTCTCTATCTCAATAAAAAGATCCCTATAATAAAACAAAATCGATTACACTTATCTTGGGAACTCTTCTGGACAAAATATCTACATCTGCGTAGTTTTCTCATTAGAGCATCAAATCCTTTAGGGCAAGTGAATGTTCATCTAACTCTAATGAAAACCTTTTCCCC... | benign | 318,822 |
Does the chromosome 21 mutation at position 37065602 within gene PIGP (phosphatidylinositol glycan anchor biosynthesis class P) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_55', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | ATGTAAGGGAGTCCAATCATGTAAGGGAGTCATTCTCGACCCTGGCTGCATATTGGAAGCATCTGGAAGATGTTAAAAAATTACCCCTGCCTGTGCTCTACTCCAGACCAATGAATCAACATTTTCTGGAGGTAGGCATAGGCACTGTTTTTTTTTCCCCTTTTTATTGAGGTGTAACTTGCATCAGAAGCAGAAATCTTAATAACTTAATGATTTTTTAAAAACATGTATTACCTCCATGTAACCATAACCACCACCCAGATCAAGATGTAGGGCATTTTCAATTCACCAGCAGGCTCCTTCATGCCTCCTCCTAGATA... | ATGTAAGGGAGTCCAATCATGTAAGGGAGTCATTCTCGACCCTGGCTGCATATTGGAAGCATCTGGAAGATGTTAAAAAATTACCCCTGCCTGTGCTCTACTCCAGACCAATGAATCAACATTTTCTGGAGGTAGGCATAGGCACTGTTTTTTTTTCCCCTTTTTATTGAGGTGTAACTTGCATCAGAAGCAGAAATCTTAATAACTTAATGATTTTTTAAAAACATGTATTACCTCCATGTAACCATAACCACCACCCAGATCAAGATGTAGGGCATTTTCAATTCACCAGCAGGCTCCTTCATGCCTCCTCCTAGATA... | pathogenic | 318,849 |
Does the genetic variant at chromosome 21, position 37472868, impacting gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome'] | AGTTCTTTTAAAAAGTGAACAAGGTTGTTTTACAGAATTGAATTGAATGAAAGTATTTTTGACTATGAATGATGAAATGTTTAGAAAAGTTGGCCATCTTTCACCACAGTTGTACTATCCTTTTACTTATTTAATAAACATTATTAATCATGTAGATTGGGAAAGTTAAGGACCTCACTGTAATGGGGAGAGACAGAAGAGAATCTAAAGTCTGAAAGCAATGCTAGGGGCAGTTGACATTCCAGCTTCAGCAGGGGTAGAGGACTTGAGATTTGTATTTTAGAAAGGTCACTTTAGCCATGTTATTGAGTAGATCCAGA... | AGTTCTTTTAAAAAGTGAACAAGGTTGTTTTACAGAATTGAATTGAATGAAAGTATTTTTGACTATGAATGATGAAATGTTTAGAAAAGTTGGCCATCTTTCACCACAGTTGTACTATCCTTTTACTTATTTAATAAACATTATTAATCATGTAGATTGGGAAAGTTAAGGACCTCACTGTAATGGGGAGAGACAGAAGAGAATCTAAAGTCTGAAAGCAATGCTAGGGGCAGTTGACATTCCAGCTTCAGCAGGGGTAGAGGACTTGAGATTTGTATTTTAGAAAGGTCACTTTAGCCATGTTATTGAGTAGATCCAGA... | pathogenic | 318,881 |
Does the chromosome 21 mutation at position 37472869 within gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Inborn_genetic_diseases'] | GTTCTTTTAAAAAGTGAACAAGGTTGTTTTACAGAATTGAATTGAATGAAAGTATTTTTGACTATGAATGATGAAATGTTTAGAAAAGTTGGCCATCTTTCACCACAGTTGTACTATCCTTTTACTTATTTAATAAACATTATTAATCATGTAGATTGGGAAAGTTAAGGACCTCACTGTAATGGGGAGAGACAGAAGAGAATCTAAAGTCTGAAAGCAATGCTAGGGGCAGTTGACATTCCAGCTTCAGCAGGGGTAGAGGACTTGAGATTTGTATTTTAGAAAGGTCACTTTAGCCATGTTATTGAGTAGATCCAGAA... | GTTCTTTTAAAAAGTGAACAAGGTTGTTTTACAGAATTGAATTGAATGAAAGTATTTTTGACTATGAATGATGAAATGTTTAGAAAAGTTGGCCATCTTTCACCACAGTTGTACTATCCTTTTACTTATTTAATAAACATTATTAATCATGTAGATTGGGAAAGTTAAGGACCTCACTGTAATGGGGAGAGACAGAAGAGAATCTAAAGTCTGAAAGCAATGCTAGGGGCAGTTGACATTCCAGCTTCAGCAGGGGTAGAGGACTTGAGATTTGTATTTTAGAAAGGTCACTTTAGCCATGTTATTGAGTAGATCCAGAA... | pathogenic | 318,882 |
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