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 |
|---|---|---|---|---|---|
Gene mutation in TECTA at chromosome 11, position 121165264—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CACTTAATTCAGAGCCTAAAAACAATGCAGTTAATTAAAATACATTTCAGTGATTTCAGAAACTGTTAACAAGCAAATTCCTAGTCTCTGTTGGAAACTAACAGAAATATTTGTTATTAGTATTTTACTCTGCTGTGTTAATAAGAATACTCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGAGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGTGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGC... | CACTTAATTCAGAGCCTAAAAACAATGCAGTTAATTAAAATACATTTCAGTGATTTCAGAAACTGTTAACAAGCAAATTCCTAGTCTCTGTTGGAAACTAACAGAAATATTTGTTATTAGTATTTTACTCTGCTGTGTTAATAAGAATACTCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGAGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGTGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGC... | benign | 189,540 |
Determine if the mutation at chromosome 11, position 121165382 in gene TECTA is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_12', 'Bilateral_sensorineural_hearing_impairment'] | AGTATTTTACTCTGCTGTGTTAATAAGAATACTCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGAGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGTGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAGAAGAAGAATAAGAATACTTTCAATGACTTTAAAAATTAACTGTTT... | AGTATTTTACTCTGCTGTGTTAATAAGAATACTCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGAGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGTGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAGAAGAAGAATAAGAATACTTTCAATGACTTTAAAAATTAACTGTTT... | pathogenic | 189,542 |
Considering the variant on chromosome 11, location 124869526, involving gene ROBO3 (roundabout guidance receptor 3), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1', 'Inborn_genetic_diseases'] | GTTGCTCACCACGGGGTGTTCCAAAATTGGGAATGGGAGGAGATGGAGGAGAAGAGAAGGGTGAAAAGCAGAGATTTCCATTTGGAAGGGAGGAGATGGAGAAAATTACTCTCCCAAGTGGGACAGAAATCGATCTTCTTGACTCCAGGCAATTAAAATAAACTCAGAACAGCGCCAGCACGGGTCAGCCTGTCCAGCTTTGTCTACAACAGAACTTCTAAGAGGGGGGGCAGGAAATGAAACCCAATCTCACAGGCGGGCTGGAAGCGGGAGGTTCCTGCAGATTTTGGAACAGGGTAGGAAGGGGGGAACAGGGGGAG... | GTTGCTCACCACGGGGTGTTCCAAAATTGGGAATGGGAGGAGATGGAGGAGAAGAGAAGGGTGAAAAGCAGAGATTTCCATTTGGAAGGGAGGAGATGGAGAAAATTACTCTCCCAAGTGGGACAGAAATCGATCTTCTTGACTCCAGGCAATTAAAATAAACTCAGAACAGCGCCAGCACGGGTCAGCCTGTCCAGCTTTGTCTACAACAGAACTTCTAAGAGGGGGGGCAGGAAATGAAACCCAATCTCACAGGCGGGCTGGAAGCGGGAGGTTCCTGCAGATTTTGGAACAGGGTAGGAAGGGGGGAACAGGGGGAG... | pathogenic | 189,732 |
The genetic variant at chromosome 11, position 124876314, affecting gene ROBO3: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | ATGAAATGTAACATCATAAAGCAACCCTCTCCCCCAAAACCATGACACCACGGCAGTTCATACAGTTCTTTCCTGCTATGCCAGGTCTATACTGGTGGCCCGGCCTGGAATAGGAGATCATGTTTGCCTCTCACAGAAGAGACAAGGGAGGAGGAAGGCAGGGAGAGGGGAGGAGGGAAGAAGGAAAGGGAGAGAGGTAGTCATTCATTTTGGCAGCTTCTGACTTCTGAGCCTTTTACCCATAGATAATAATATAGATTATTAAGACTAGAAGGGACCATGGAGGGGCCATCTTCATCTTAGAGATGAGGAACTGAGGC... | ATGAAATGTAACATCATAAAGCAACCCTCTCCCCCAAAACCATGACACCACGGCAGTTCATACAGTTCTTTCCTGCTATGCCAGGTCTATACTGGTGGCCCGGCCTGGAATAGGAGATCATGTTTGCCTCTCACAGAAGAGACAAGGGAGGAGGAAGGCAGGGAGAGGGGAGGAGGGAAGAAGGAAAGGGAGAGAGGTAGTCATTCATTTTGGCAGCTTCTGACTTCTGAGCCTTTTACCCATAGATAATAATATAGATTATTAAGACTAGAAGGGACCATGGAGGGGCCATCTTCATCTTAGAGATGAGGAACTGAGGC... | pathogenic | 189,757 |
Is chromosome 11, position 124876447, gene ROBO3 (roundabout guidance receptor 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Conjugate_gaze_palsy', 'Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1'] | CAGAAGAGACAAGGGAGGAGGAAGGCAGGGAGAGGGGAGGAGGGAAGAAGGAAAGGGAGAGAGGTAGTCATTCATTTTGGCAGCTTCTGACTTCTGAGCCTTTTACCCATAGATAATAATATAGATTATTAAGACTAGAAGGGACCATGGAGGGGCCATCTTCATCTTAGAGATGAGGAACTGAGGCCTTTAAAGGATGCATGTGTAATTATGCTAGCTGGACACCGAGGCCCATGTCTGGAAGCTATTTTCCTGACCAGTCCCCTCCTGACCATGGGGTGTGCTCTGGAGTACTAAGTGGAGCAGGGCAGAGGTAGGAC... | CAGAAGAGACAAGGGAGGAGGAAGGCAGGGAGAGGGGAGGAGGGAAGAAGGAAAGGGAGAGAGGTAGTCATTCATTTTGGCAGCTTCTGACTTCTGAGCCTTTTACCCATAGATAATAATATAGATTATTAAGACTAGAAGGGACCATGGAGGGGCCATCTTCATCTTAGAGATGAGGAACTGAGGCCTTTAAAGGATGCATGTGTAATTATGCTAGCTGGACACCGAGGCCCATGTCTGGAAGCTATTTTCCTGACCAGTCCCCTCCTGACCATGGGGTGTGCTCTGGAGTACTAAGTGGAGCAGGGCAGAGGTAGGAC... | pathogenic | 189,760 |
Gene ROBO3 (roundabout guidance receptor 3) variant at chromosome position 124880551 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGGAGGGGGCAGCAGGAAGGCCAACGGGAAGGTATGGAAGCAGCTGAGCCCTTTCCTTCTCTCCTGCCTCTTTGATCCCAGCTCAGAGCCAGAGGAGTGGTGCCCGCCAATGCCTGAGAGAAGTCACCTGACGGAGCCCAGCTCCAGTGGAGGGTGCCTGGTCACCCCATCCCGAAGGGAAACCCCCTCTCCCACACCTTCCTATGGACAGCAGTCCACAGCCACTCTTACACCCTCACCTCCTGACCCTCCCCAGCCCCCAACTGACATGCCCCATCTCCATCAGATGCCCAGGTAGGGAGGTATATAGTACCTCACTC... | GGGAGGGGGCAGCAGGAAGGCCAACGGGAAGGTATGGAAGCAGCTGAGCCCTTTCCTTCTCTCCTGCCTCTTTGATCCCAGCTCAGAGCCAGAGGAGTGGTGCCCGCCAATGCCTGAGAGAAGTCACCTGACGGAGCCCAGCTCCAGTGGAGGGTGCCTGGTCACCCCATCCCGAAGGGAAACCCCCTCTCCCACACCTTCCTATGGACAGCAGTCCACAGCCACTCTTACACCCTCACCTCCTGACCCTCCCCAGCCCCCAACTGACATGCCCCATCTCCATCAGATGCCCAGGTAGGGAGGTATATAGTACCTCACTC... | benign | 189,766 |
The mutation in gene STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A) at chromosome 11, position 125618352—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TACTAATCCCTAATACTAGGTAAATGGTTGTTAATACTGTATTGTTTAGGTAACAATGACAAGAAAAAAGTCTATCCATCTTCATTACAGATGCAGTCATCTGTTTTTTTGTTTTGTGAATATTTTTGATTAGAGGTTTGTTGAATTTATGGATGTCAAACCCACAGATATGGAAGGCCAACTGTTTTGGTTAATTTGTTACACTGAATTTATTTTTCAAGGTCAAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTG... | TACTAATCCCTAATACTAGGTAAATGGTTGTTAATACTGTATTGTTTAGGTAACAATGACAAGAAAAAAGTCTATCCATCTTCATTACAGATGCAGTCATCTGTTTTTTTGTTTTGTGAATATTTTTGATTAGAGGTTTGTTGAATTTATGGATGTCAAACCCACAGATATGGAAGGCCAACTGTTTTGGTTAATTTGTTACACTGAATTTATTTTTCAAGGTCAAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTG... | benign | 189,859 |
Does the variant impacting STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A) on chromosome 11, position 125618576, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTGTAGACAACCATATCTTTTGAACAATGGGCTCTCCTTGATGCAGTTCCTATCATCATCATCATTATTGTTTTTGAGACAGAGTTTCACTTTGTCACCCAGGCTGGAGTTCAGTGGCACGATGTCTGCTCACTGCAGCCTCTGCTTCCCATGCTCAAGTGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCCAATTT... | AAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTGTAGACAACCATATCTTTTGAACAATGGGCTCTCCTTGATGCAGTTCCTATCATCATCATCATTATTGTTTTTGAGACAGAGTTTCACTTTGTCACCCAGGCTGGAGTTCAGTGGCACGATGTCTGCTCACTGCAGCCTCTGCTTCCCATGCTCAAGTGATCTTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCATGCCCGGCCAATTT... | benign | 189,862 |
Does the genetic variant at chromosome 11, position 125959619, impacting gene CDON (cell adhesion associated, oncogene regulated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ACATACTTTTCAATATGATACAAAGCATGCATCTCAAAGTCATTACTTTAAAAGAGAGCAACACAGGTAAAATTCAATGATAAACTTCACTTCTTGGCAGTACTATAGCTGGAATGAGATCTGTGGCATGATCAGCCCAAGATGGATGCATTGAGTCTTCATAGACTCATTCGACAAAAACACCCAGAAAGAAAGGCTTTTGCTAAGAACACTTCAAAAGGTTTAGAACATTGCAATGTAACTTGCACCCTGGCAGCACCTGTCACCAGACTGTCAGTGCAAAACTGAAAGAAAAACATTAAAAGGAGATCGTGAAATGA... | ACATACTTTTCAATATGATACAAAGCATGCATCTCAAAGTCATTACTTTAAAAGAGAGCAACACAGGTAAAATTCAATGATAAACTTCACTTCTTGGCAGTACTATAGCTGGAATGAGATCTGTGGCATGATCAGCCCAAGATGGATGCATTGAGTCTTCATAGACTCATTCGACAAAAACACCCAGAAAGAAAGGCTTTTGCTAAGAACACTTCAAAAGGTTTAGAACATTGCAATGTAACTTGCACCCTGGCAGCACCTGTCACCAGACTGTCAGTGCAAAACTGAAAGAAAAACATTAAAAGGAGATCGTGAAATGA... | benign | 189,928 |
Variant in CDON (cell adhesion associated, oncogene regulated), chromosome 11, position 125995077—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TATGCTAGAAATGCTACGTCAGAAAGTTCTTTCTTACGCTGCTTTCTTGCAACTTCCCCTCCCCCAATTGACTCAGCTCCTCTTCCACATAACAGTCCGTAAATACCTGAAGGTAGCTATCGTGTTGCTTCTGCTAGTCTTTTTCAACCTGAATATCGTTAGAGATTCCCTTGTTCTTTGTGGACTCCATTCATACATGAATTCAATACTGGCCACCTCACCACTGTAGGGGCTGGACATAGCAGTGGGAGAAAAGGTCCTATGCTCACAAGGGAGTTAACATCTAGTAGAGGAGACAGACTTTAAGCAAATAGTTTCAA... | TATGCTAGAAATGCTACGTCAGAAAGTTCTTTCTTACGCTGCTTTCTTGCAACTTCCCCTCCCCCAATTGACTCAGCTCCTCTTCCACATAACAGTCCGTAAATACCTGAAGGTAGCTATCGTGTTGCTTCTGCTAGTCTTTTTCAACCTGAATATCGTTAGAGATTCCCTTGTTCTTTGTGGACTCCATTCATACATGAATTCAATACTGGCCACCTCACCACTGTAGGGGCTGGACATAGCAGTGGGAGAAAAGGTCCTATGCTCACAAGGGAGTTAACATCTAGTAGAGGAGACAGACTTTAAGCAAATAGTTTCAA... | benign | 189,960 |
Is the genetic mutation found on chromosome 11 at position 126021208, within the gene CDON (cell adhesion associated, oncogene regulated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCAGGCACAAGTGCTACGGCAAGGAAAAGAGCAGACAAAAACCCTGCATGCATGCAGCCGGCATTCCAGTAGGGGTATGTGGGGAGGTCAGAGGAAAAGACAAACAATAATAAACTAACAGAAATATGAATAACACAGTATCAGGTGTGATCAATTCTATAAAGAAAAGCAAAACGAAATAAAGGGGCCAGAGAGCACCAGGCATATTATTTTAGATAGGACCATGAGGGCTATCTTTTCCAAGGAAGTGAAATCTGATGGGGGTCTGAAGGAACTGAGGGAGTGAGGCCTCAGGGTATGGGGCCGTAATTATTTGTATA... | CCAGGCACAAGTGCTACGGCAAGGAAAAGAGCAGACAAAAACCCTGCATGCATGCAGCCGGCATTCCAGTAGGGGTATGTGGGGAGGTCAGAGGAAAAGACAAACAATAATAAACTAACAGAAATATGAATAACACAGTATCAGGTGTGATCAATTCTATAAAGAAAAGCAAAACGAAATAAAGGGGCCAGAGAGCACCAGGCATATTATTTTAGATAGGACCATGAGGGCTATCTTTTCCAAGGAAGTGAAATCTGATGGGGGTCTGAAGGAACTGAGGGAGTGAGGCCTCAGGGTATGGGGCCGTAATTATTTGTATA... | benign | 190,002 |
The genetic variant at chromosome 11, position 126273445, affecting gene FOXRED1 (FAD dependent oxidoreductase domain containing 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | AGGAAATGTTTGGCCCTCTGACCCTAACTACATCCCACAGACTGGGATGGAAAGGTGTCTGAGATTAAGAAGAAGATCAAGTCGATCCTGCCTGGAAGGTCCTGTGATCTACTGCAAGACACCAGCCACCTGCCTCCCGAGCACTCGGATGTGGTGATCGTGGGAGGTGGGGTGCTTGGCTTGTCTGTGGCCTATTGGCTGAAGAAGCTGGAGAGCAGACGAGGTGCTATTCGAGTGCTAGTGGTGGAACGGGACCACACGGTGAGGTCTGGGGTAGGGCAGAGTCATGAGTGGGGCAAGAAAGATGACTCATTTTATTA... | AGGAAATGTTTGGCCCTCTGACCCTAACTACATCCCACAGACTGGGATGGAAAGGTGTCTGAGATTAAGAAGAAGATCAAGTCGATCCTGCCTGGAAGGTCCTGTGATCTACTGCAAGACACCAGCCACCTGCCTCCCGAGCACTCGGATGTGGTGATCGTGGGAGGTGGGGTGCTTGGCTTGTCTGTGGCCTATTGGCTGAAGAAGCTGGAGAGCAGACGAGGTGCTATTCGAGTGCTAGTGGTGGAACGGGACCACACGGTGAGGTCTGGGGTAGGGCAGAGTCATGAGTGGGGCAAGAAAGATGACTCATTTTATTA... | pathogenic | 190,027 |
Determine whether the variant at chromosome 11, position 126274995, in gene FOXRED1 (FAD dependent oxidoreductase domain containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Leigh_syndrome'] | AACTTTTCTTGTCTTTCCACAGTATTCACAGGCCTCCACTGGGCTCTCAGTAGGTGGGATTTGTCAGCAGTTCTCATTGCCTGAGAACATCCAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAATGTAGGTGCAATGATATCCGGGATGTTGGGGTGGTTACCCCTCCTTTAGCCCAGAGTGGGGAGCAGCCCAGCTAGCAAGGTAGCCAGAGAGCAAGAATGGGTCAGCCAACTAGGAGAGGGGGGCCCTGGCCTTCTTCCTAGTGGTGGTGCCGCAGGTCTGGGGCACTGAGCCTGGGGAGCTGTGGGGG... | AACTTTTCTTGTCTTTCCACAGTATTCACAGGCCTCCACTGGGCTCTCAGTAGGTGGGATTTGTCAGCAGTTCTCATTGCCTGAGAACATCCAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAATGTAGGTGCAATGATATCCGGGATGTTGGGGTGGTTACCCCTCCTTTAGCCCAGAGTGGGGAGCAGCCCAGCTAGCAAGGTAGCCAGAGAGCAAGAATGGGTCAGCCAACTAGGAGAGGGGGGCCCTGGCCTTCTTCCTAGTGGTGGTGCCGCAGGTCTGGGGCACTGAGCCTGGGGAGCTGTGGGGG... | pathogenic | 190,029 |
Is chromosome 11, position 126275000, gene FOXRED1 (FAD dependent oxidoreductase domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_1_deficiency,_nuclear_type_19', 'Mitochondrial_complex_I_deficiency', 'Mitochondrial_complex_I_deficiency,_nuclear_type_1', 'Mitochondrial_disease'] | TTCTTGTCTTTCCACAGTATTCACAGGCCTCCACTGGGCTCTCAGTAGGTGGGATTTGTCAGCAGTTCTCATTGCCTGAGAACATCCAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAATGTAGGTGCAATGATATCCGGGATGTTGGGGTGGTTACCCCTCCTTTAGCCCAGAGTGGGGAGCAGCCCAGCTAGCAAGGTAGCCAGAGAGCAAGAATGGGTCAGCCAACTAGGAGAGGGGGGCCCTGGCCTTCTTCCTAGTGGTGGTGCCGCAGGTCTGGGGCACTGAGCCTGGGGAGCTGTGGGGGAAGAA... | TTCTTGTCTTTCCACAGTATTCACAGGCCTCCACTGGGCTCTCAGTAGGTGGGATTTGTCAGCAGTTCTCATTGCCTGAGAACATCCAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAATGTAGGTGCAATGATATCCGGGATGTTGGGGTGGTTACCCCTCCTTTAGCCCAGAGTGGGGAGCAGCCCAGCTAGCAAGGTAGCCAGAGAGCAAGAATGGGTCAGCCAACTAGGAGAGGGGGGCCCTGGCCTTCTTCCTAGTGGTGGTGCCGCAGGTCTGGGGCACTGAGCCTGGGGAGCTGTGGGGGAAGAA... | pathogenic | 190,030 |
Variant in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1), chromosome 11, position 128839242—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bartter_disease_type_2'] | AGAGGGTCAATGGGAATTTCCATTAAAAAAGAGACTCCAGGTGCAGAGTGTCTTGATCCTAGCAAAGGGATATTTAGAAGCAGATGGGCCTCCACCAAATAACCCAGAAGTAAATACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCA... | AGAGGGTCAATGGGAATTTCCATTAAAAAAGAGACTCCAGGTGCAGAGTGTCTTGATCCTAGCAAAGGGATATTTAGAAGCAGATGGGCCTCCACCAAATAACCCAGAAGTAAATACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCA... | pathogenic | 190,118 |
Gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) variant at chromosome 11, position 128839301—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | TAGCAAAGGGATATTTAGAAGCAGATGGGCCTCCACCAAATAACCCAGAAGTAAATACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTA... | TAGCAAAGGGATATTTAGAAGCAGATGGGCCTCCACCAAATAACCCAGAAGTAAATACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTA... | pathogenic | 190,120 |
Gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) variant at chromosome position 128839739 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Bartter_disease_type_2'] | TCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCA... | TCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCA... | pathogenic | 190,131 |
A genetic alteration at chromosome 11, position 128839739, in gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bartter_disease_type_2'] | TCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCA... | TCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCA... | pathogenic | 190,132 |
The genetic variant at chromosome 11, position 128839826, affecting gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bartter_disease_type_2'] | GTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTT... | GTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTT... | pathogenic | 190,135 |
Evaluate this variant at chromosome 11, position 128912116, gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTAACCATGTTGTGAGGATTAAATCAGCCAATGGATAAAAATTTCCTAGTGCAGTTCCTGGCTTCTGAGTGCTCAGAAATGTTGTCTGTTATTGTTAATTAAAGAGGTCTTTCCCAACTGAATGAGAGTCTTAAAGCTCGTTAAATGGGTTTTGAGGGGACTATCAGACACCTGTATTGCAGGTGTGTGGGTATCTCTTGGAAGTGTGGTAGGCACCCCCACAAACACATTACGCCCTTTGAAGAGCTTTGGGGCCATTAACATCCTGTCCAGTTCCATTTCTTAGAGGACAGGGAATCAAATTTTCTAATGGCGGGCCT... | CTAACCATGTTGTGAGGATTAAATCAGCCAATGGATAAAAATTTCCTAGTGCAGTTCCTGGCTTCTGAGTGCTCAGAAATGTTGTCTGTTATTGTTAATTAAAGAGGTCTTTCCCAACTGAATGAGAGTCTTAAAGCTCGTTAAATGGGTTTTGAGGGGACTATCAGACACCTGTATTGCAGGTGTGTGGGTATCTCTTGGAAGTGTGGTAGGCACCCCCACAAACACATTACGCCCTTTGAAGAGCTTTGGGGCCATTAACATCCTGTCCAGTTCCATTTCTTAGAGGACAGGGAATCAAATTTTCTAATGGCGGGCCT... | benign | 190,196 |
Does the chromosome 11 mutation at position 128916398 within gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CACCCCCAACCACACCTCCCTCAAAGTCAGGGGCCCGCCATTCACTTGTCCTCACGGTTTGGCCTCCTTCCCCTCCCACAACCCGGGCTATGCTTGCTCTGTCCCACAAACTGTAGGGGAGATCCAGGGAGATAGGGCAGGAGACCCTGGCCCACATCTGTCCTGGATGTGGGTGGTTTGGTTGTCAAGCACATGCAGCCAGGTGTGGGCTGGGAATCCATGCCTCAGCTTGAGTAGCACAACTCTGCCGTATCCTGCCTGAGCGGGTTTGAGCAAGCTGCTTACCTTGTCAGCAAAGTGAGGAAAATCAATCTCTTAGG... | CACCCCCAACCACACCTCCCTCAAAGTCAGGGGCCCGCCATTCACTTGTCCTCACGGTTTGGCCTCCTTCCCCTCCCACAACCCGGGCTATGCTTGCTCTGTCCCACAAACTGTAGGGGAGATCCAGGGAGATAGGGCAGGAGACCCTGGCCCACATCTGTCCTGGATGTGGGTGGTTTGGTTGTCAAGCACATGCAGCCAGGTGTGGGCTGGGAATCCATGCCTCAGCTTGAGTAGCACAACTCTGCCGTATCCTGCCTGAGCGGGTTTGAGCAAGCTGCTTACCTTGTCAGCAAAGTGAGGAAAATCAATCTCTTAGG... | benign | 190,201 |
Gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) variant at chromosome 11, position 128917590—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GTTTTCAGGAACGGAGTCCCTACCTTCAACTATTCCAACATCTATTCACTCCAATCTCTAGGAAATGACTTTCAGAATCTTGCATGTCGATTTCTAATTTTCTGCCACCACTACGCCTTGAACTCCTCCAGGGCAAGGACTGTGTCTTATTCAGCTTTACATTTCCACTATGCTTAGCACAAAGTAGATGTTCATGAAATGCTTGATGAGTGATTGGATGGTTGAAGGAATGCATGAATGTATGGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGACTGGATGGGTGGACGATTAGGTA... | GTTTTCAGGAACGGAGTCCCTACCTTCAACTATTCCAACATCTATTCACTCCAATCTCTAGGAAATGACTTTCAGAATCTTGCATGTCGATTTCTAATTTTCTGCCACCACTACGCCTTGAACTCCTCCAGGGCAAGGACTGTGTCTTATTCAGCTTTACATTTCCACTATGCTTAGCACAAAGTAGATGTTCATGAAATGCTTGATGAGTGATTGGATGGTTGAAGGAATGCATGAATGTATGGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGACTGGATGGGTGGACGATTAGGTA... | benign | 190,227 |
For chromosome 12, position 754339, gene WNK1 (WNK lysine deficient protein kinase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GATGGGGTTGAGCGACCCGTGATGACGCTCCCATCAGCCTTTCAGAAGGGACGGTTTCCAAAGAAAACTACAACTCCCACGAGGCATTAGGCTACAGCAACCGCAAGGCATCACGGAAGTCGTAGGCACTTTTCTTCTAGGTCCCGTTCATCCCCGCCAACCCGTAAACTATAAGTCCCAGGGTGCCTCGGGGCTAGCACGCCTGCGCAAAAGCCCCGGAGCGAGTTGGGGGGTGGGGCTGCTCCGGGCGGCGGGGGGCGGGATCCGAGCGGGCTGTGTGGAGGCTTCAGACTCCCGGCGCCATTTAGCGCGGAGAGTTT... | GATGGGGTTGAGCGACCCGTGATGACGCTCCCATCAGCCTTTCAGAAGGGACGGTTTCCAAAGAAAACTACAACTCCCACGAGGCATTAGGCTACAGCAACCGCAAGGCATCACGGAAGTCGTAGGCACTTTTCTTCTAGGTCCCGTTCATCCCCGCCAACCCGTAAACTATAAGTCCCAGGGTGCCTCGGGGCTAGCACGCCTGCGCAAAAGCCCCGGAGCGAGTTGGGGGGTGGGGCTGCTCCGGGCGGCGGGGGGCGGGATCCGAGCGGGCTGTGTGGAGGCTTCAGACTCCCGGCGCCATTTAGCGCGGAGAGTTT... | benign | 190,462 |
The genetic variant at chromosome 12, position 865142, affecting gene WNK1 (WNK lysine deficient protein kinase 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAATAAGTAACTTGTCACTGTACAGCACTTGTTTAGTGAGATCTTTAAGCAGACAGATTTTCCCCTTCTCAGAAAGCTTTTAATCTAAACTTTGTGGAATTCTTGCTCTTCTTTAAATGAAAATCTTTCTCTGTTAAGAAAATACTTCTGCTTGTTCGATTTTTTATCCTACAGCTTGGAATAAAAGATGTTCATTTGTTTCAGAGTCCGTTTAATCCTGCTTTGGCTAGGTCTCAAAATGAATGGCCACAGTAACACAAATAAAAAACTAATATACTAACTTTTTAAAACAATCTACTTTCTGTCTTTAAAATAATTGA... | AAATAAGTAACTTGTCACTGTACAGCACTTGTTTAGTGAGATCTTTAAGCAGACAGATTTTCCCCTTCTCAGAAAGCTTTTAATCTAAACTTTGTGGAATTCTTGCTCTTCTTTAAATGAAAATCTTTCTCTGTTAAGAAAATACTTCTGCTTGTTCGATTTTTTATCCTACAGCTTGGAATAAAAGATGTTCATTTGTTTCAGAGTCCGTTTAATCCTGCTTTGGCTAGGTCTCAAAATGAATGGCCACAGTAACACAAATAAAAAACTAATATACTAACTTTTTAAAACAATCTACTTTCTGTCTTTAAAATAATTGA... | benign | 190,490 |
Chromosome 12, position 865189, gene WNK1 (WNK lysine deficient protein kinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AGCAGACAGATTTTCCCCTTCTCAGAAAGCTTTTAATCTAAACTTTGTGGAATTCTTGCTCTTCTTTAAATGAAAATCTTTCTCTGTTAAGAAAATACTTCTGCTTGTTCGATTTTTTATCCTACAGCTTGGAATAAAAGATGTTCATTTGTTTCAGAGTCCGTTTAATCCTGCTTTGGCTAGGTCTCAAAATGAATGGCCACAGTAACACAAATAAAAAACTAATATACTAACTTTTTAAAACAATCTACTTTCTGTCTTTAAAATAATTGAGGGTAGAATAGAAGAACTTTATAAAGACTGCACAGAAAATATATTTC... | AGCAGACAGATTTTCCCCTTCTCAGAAAGCTTTTAATCTAAACTTTGTGGAATTCTTGCTCTTCTTTAAATGAAAATCTTTCTCTGTTAAGAAAATACTTCTGCTTGTTCGATTTTTTATCCTACAGCTTGGAATAAAAGATGTTCATTTGTTTCAGAGTCCGTTTAATCCTGCTTTGGCTAGGTCTCAAAATGAATGGCCACAGTAACACAAATAAAAAACTAATATACTAACTTTTTAAAACAATCTACTTTCTGTCTTTAAAATAATTGAGGGTAGAATAGAAGAACTTTATAAAGACTGCACAGAAAATATATTTC... | benign | 190,492 |
Variant at chromosome position 868993, chromosome 12, gene WNK1 (WNK lysine deficient protein kinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neuropathy,_hereditary_sensory_and_autonomic,_type_2A', 'Pseudohypoaldosteronism_type_2C'] | GAAATGTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCGTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATTGTCACTGCACTCCAGCCTGGGCGAAAGAGGAAGACTCCATCTCAAAAAAAAGAAAAAAGAAATTTCATGGTTATGCAACTCTTATTTATGATCAGAAAAATGGACATTTTGTGATTTAACTCTGTAACATGTTTCATGTAGTAAAAATATAATAAAACTATTAATCATCTAGCTTGGGAGAGATAGG... | GAAATGTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCGTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATTGTCACTGCACTCCAGCCTGGGCGAAAGAGGAAGACTCCATCTCAAAAAAAAGAAAAAAGAAATTTCATGGTTATGCAACTCTTATTTATGATCAGAAAAATGGACATTTTGTGATTTAACTCTGTAACATGTTTCATGTAGTAAAAATATAATAAAACTATTAATCATCTAGCTTGGGAGAGATAGG... | pathogenic | 190,512 |
Variant chromosome 12, position 878367, gene WNK1 (WNK lysine deficient protein kinase 1): benign or pathogenic? Disease(s)? | benign | GAATGGCATGAACCTGGGAGGCGGAACTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCGTGTCAAAAAAAAAGAATACATTATCAGAAATAATTAAATAGGAATAAACCAAACATGACTGCTGTTGCCATTATATTTTAGCATTCTTTTGGTGATTTTAATTGACATAAATATAAGAAGAGCAAAAATATTATTTGTAGATTATCACCTAACAAAATCTAAGACACTTATCAAGGTGGCAAGATACATAATAAATGTACAAATAAATAGCTTATCTTTATACCAGCAGTAACC... | GAATGGCATGAACCTGGGAGGCGGAACTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCGTGTCAAAAAAAAAGAATACATTATCAGAAATAATTAAATAGGAATAAACCAAACATGACTGCTGTTGCCATTATATTTTAGCATTCTTTTGGTGATTTTAATTGACATAAATATAAGAAGAGCAAAAATATTATTTGTAGATTATCACCTAACAAAATCTAAGACACTTATCAAGGTGGCAAGATACATAATAAATGTACAAATAAATAGCTTATCTTTATACCAGCAGTAACC... | benign | 190,520 |
Variant in gene WNK1 (WNK lysine deficient protein kinase 1), located at chromosome 12 position 878379: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCTGGGAGGCGGAACTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCGTGTCAAAAAAAAAGAATACATTATCAGAAATAATTAAATAGGAATAAACCAAACATGACTGCTGTTGCCATTATATTTTAGCATTCTTTTGGTGATTTTAATTGACATAAATATAAGAAGAGCAAAAATATTATTTGTAGATTATCACCTAACAAAATCTAAGACACTTATCAAGGTGGCAAGATACATAATAAATGTACAAATAAATAGCTTATCTTTATACCAGCAGTAACCAATTAGTCGTAT... | CCTGGGAGGCGGAACTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCGTGTCAAAAAAAAAGAATACATTATCAGAAATAATTAAATAGGAATAAACCAAACATGACTGCTGTTGCCATTATATTTTAGCATTCTTTTGGTGATTTTAATTGACATAAATATAAGAAGAGCAAAAATATTATTTGTAGATTATCACCTAACAAAATCTAAGACACTTATCAAGGTGGCAAGATACATAATAAATGTACAAATAAATAGCTTATCTTTATACCAGCAGTAACCAATTAGTCGTAT... | benign | 190,521 |
Evaluate if the mutation on chromosome 12 at position 885406 in WNK1 (WNK lysine deficient protein kinase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGACACTAATTAGACTGACATCACATTTCTTTTACAGGTGAACAATGACTTTATTCTAGCAATAGAGAGAGAGTCGTTTGTGGATCAAGTGCGAGAAATTATTGAAAAAGCTGATGAAATGCTCAGTGAGGATGTCAGTGTGGAACCAGAGGGTGATCAGGGATTGGAGAGTCTACAAGGAAAGGATGACTATGGCTTTTCAGGTTCTCAGGTAGGTTCACCACTCCCATAGTGAAACTTTGTTGATTTAAAATATTTTCATAGTTCTAAATTTGCTATGCAAAATGTCCAGTGATATCACCTGACACCCATGACCGACA... | TGACACTAATTAGACTGACATCACATTTCTTTTACAGGTGAACAATGACTTTATTCTAGCAATAGAGAGAGAGTCGTTTGTGGATCAAGTGCGAGAAATTATTGAAAAAGCTGATGAAATGCTCAGTGAGGATGTCAGTGTGGAACCAGAGGGTGATCAGGGATTGGAGAGTCTACAAGGAAAGGATGACTATGGCTTTTCAGGTTCTCAGGTAGGTTCACCACTCCCATAGTGAAACTTTGTTGATTTAAAATATTTTCATAGTTCTAAATTTGCTATGCAAAATGTCCAGTGATATCACCTGACACCCATGACCGACA... | benign | 190,564 |
Mutation found at chromosome 12 position 894591, gene WNK1 (WNK lysine deficient protein kinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AAAGTGCCACCGATTGCAAATATAAATGAAAAACTGGGGAAATATATATATTTGTGGGAGGGGGAGGGGTATGTGTAGTCATATCACAAAAAGAACTCGTTTTGCTAATACAAAGAGTTCCTAAAATTCAACATGAACCAAAAAACAATCAAAAGATAACAGAAAAGGAAACTTAGACATGAAAATATTTAATGTCCGTAATGATAGAAACACAAAGTAAGGCTACAAGTGATAGCAATTCCCACCTCTCATTGGTAAATTCAGGGGTCTAATAGCCACCAGTGACTTGGTACAGCCTCTGGGGGGATCAGTTTATAATA... | AAAGTGCCACCGATTGCAAATATAAATGAAAAACTGGGGAAATATATATATTTGTGGGAGGGGGAGGGGTATGTGTAGTCATATCACAAAAAGAACTCGTTTTGCTAATACAAAGAGTTCCTAAAATTCAACATGAACCAAAAAACAATCAAAAGATAACAGAAAAGGAAACTTAGACATGAAAATATTTAATGTCCGTAATGATAGAAACACAAAGTAAGGCTACAAGTGATAGCAATTCCCACCTCTCATTGGTAAATTCAGGGGTCTAATAGCCACCAGTGACTTGGTACAGCCTCTGGGGGGATCAGTTTATAATA... | benign | 190,589 |
The chromosome 12, position 2549878 genetic variant in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GTTGGAACCAGCACAGGCAGTGCCTTGATTTAGAAGGTGCTGTCGTTATTTCCAGTGCCCAGGCCTGCCCCTCCGATTTTGTCTGTCTTTCCAGGCCTAGCACCACCACCTCCACAGCACTGTACTCACACATAAGGCTCTGGGAACGAAGTGTCACAAAGTCACAGAACTTTTTCTACGTGGCCTAGCCCTTCAAACAAGGATGTCTGGAGGGTAGAGAGCTAAAAACTAAAAATAAAAAATAAAAAAAACCTTTGGGCTGAGATGGCTGGAGATAGATGGGTTGGAAGACTGAGAGTGCTTCCATTTTATGGCTTCCT... | GTTGGAACCAGCACAGGCAGTGCCTTGATTTAGAAGGTGCTGTCGTTATTTCCAGTGCCCAGGCCTGCCCCTCCGATTTTGTCTGTCTTTCCAGGCCTAGCACCACCACCTCCACAGCACTGTACTCACACATAAGGCTCTGGGAACGAAGTGTCACAAAGTCACAGAACTTTTTCTACGTGGCCTAGCCCTTCAAACAAGGATGTCTGGAGGGTAGAGAGCTAAAAACTAAAAATAAAAAATAAAAAAAACCTTTGGGCTGAGATGGCTGGAGATAGATGGGTTGGAAGACTGAGAGTGCTTCCATTTTATGGCTTCCT... | benign | 190,862 |
Mutation at chromosome 12, position 2556990, within CACNA1C (calcium voltage-gated channel subunit alpha1 C): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCCCCATGAACCTAAAATTCTGCTCACAATCCCGGAGGATAGCAACAATAGCAACAAAATCAGTCTTCAAGTGTGGTGCCCAGGCTTATCCATCCAGACCTGTAACAAAGCAGACAAGAAGGCTCTGTCCATTTCGTGCTCAGAATGTGCCCGGATGCCACAGAAGGACCTGTAGTCCACGACTGTGCTTGAAGCAGGACCTCCTTTCCCAGCACCCCCAGCGCCAATCCTGCTTCCCAGGGTCATTTCCCTTGGAGACGAACACTCAGGATTAGGTTTCCCCAGAGGGGAGCTTTTCAGAGCCCACTTGCACTTGTGAC... | TCCCCATGAACCTAAAATTCTGCTCACAATCCCGGAGGATAGCAACAATAGCAACAAAATCAGTCTTCAAGTGTGGTGCCCAGGCTTATCCATCCAGACCTGTAACAAAGCAGACAAGAAGGCTCTGTCCATTTCGTGCTCAGAATGTGCCCGGATGCCACAGAAGGACCTGTAGTCCACGACTGTGCTTGAAGCAGGACCTCCTTTCCCAGCACCCCCAGCGCCAATCCTGCTTCCCAGGGTCATTTCCCTTGGAGACGAACACTCAGGATTAGGTTTCCCCAGAGGGGAGCTTTTCAGAGCCCACTTGCACTTGTGAC... | benign | 190,879 |
A genetic variant on chromosome 12, position 2584592, affects the gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGG... | TCAGCTCAAGCATGTGTGGGGAAAGTCAGAGATCTTTGGGCCAAAAAGCCCTTTTAGTCACCCTTCAAATAATATTATGCCAATAGCCAGGCATTTTGTCTAAGGACAGTTCAATAGCTCAGAGCCCCTGGGGAGGAGAATTGGGGGCCAGGAGGAGGGAAAGAAGTGAAAGGGAAATTTTGGACAATTTTGTTGACGTAGTGGGGCAGGGCAGGGTGGTTTTGGGTTTGCTGTTGGTCTAACGCTGTGTCCCTTATTGGTGGGAATGTGTCATTCAGATCCTGACCGGGGAGGACTGGAATTCGGTGATGTATGATGGG... | pathogenic | 190,945 |
Classify the chromosome 12 variant at position 2597221 affecting gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTACATTGCTGTCAAGATGAGATGGTGTACAAGACACTTTGGCATTTAGGAACCTAGCATTTTTGGTGCTATCACTGAGTGCCTAGAAGCTCAGTTGGGTAATTGTGCTGGGGCATGGAAGTGAATTGCACATTTAAAGCTATTACACAGGAGCAGATCACCTACAGAGAGCCGGTTTGGCTGGCCTCTCAGCATAC... | GAAGGCCTGGGTTGAAGCCCTGACTCTCCCACACTAAGGCTGTGTTTCTGGGCAAGCCTCTCCTACTTGGGTTTCAGTGTTCTTACCTGTGAAATGAAGATGATGACACCCATCCCTTCCTTCCTACATTGCTGTCAAGATGAGATGGTGTACAAGACACTTTGGCATTTAGGAACCTAGCATTTTTGGTGCTATCACTGAGTGCCTAGAAGCTCAGTTGGGTAATTGTGCTGGGGCATGGAAGTGAATTGCACATTTAAAGCTATTACACAGGAGCAGATCACCTACAGAGAGCCGGTTTGGCTGGCCTCTCAGCATAC... | benign | 190,988 |
The mutation in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) at chromosome 12, position 2608721—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGGCAGGCCAGGCGTGAAGGAAGATGGGAGATCCCAGAGTAAACTCCTTCTCCTCCTCTCTCAGGGGCAACTA... | GGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGGCAGGCCAGGCGTGAAGGAAGATGGGAGATCCCAGAGTAAACTCCTTCTCCTCCTCTCTCAGGGGCAACTA... | benign | 191,048 |
Mutation found at chromosome 12 position 2651799, gene CACNA1C (calcium voltage-gated channel subunit alpha1 C): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AACTCTTGACACTTGCAGCTAAAGTTCTCCACTTAAGCTTGTTCTTTTTTTTCTCCTTTCTCGAACACGGTGGAACTGACAGCTGAGTTATAAAATCCTAAGCCTCCTCTGCATACTCCTCTGGGGAAACACAACCTCCTTTTAAGGAGTGAAAATAGAAGTTCAAGCAGATACACAGGTGATAGAAATACAGAGATTAAGGTCATCAAAGGCTTCAGAACACACAGGCAGGGAAGAGCCCAGGGCAGGACAGGGCTGCTGCCTGCAGCTCTTGACCCAGCCCCTCAGGTACCCGTGCAGCAGGTCCCGAGTCCCACCTG... | AACTCTTGACACTTGCAGCTAAAGTTCTCCACTTAAGCTTGTTCTTTTTTTTCTCCTTTCTCGAACACGGTGGAACTGACAGCTGAGTTATAAAATCCTAAGCCTCCTCTGCATACTCCTCTGGGGAAACACAACCTCCTTTTAAGGAGTGAAAATAGAAGTTCAAGCAGATACACAGGTGATAGAAATACAGAGATTAAGGTCATCAAAGGCTTCAGAACACACAGGCAGGGAAGAGCCCAGGGCAGGACAGGGCTGCTGCCTGCAGCTCTTGACCCAGCCCCTCAGGTACCCGTGCAGCAGGTCCCGAGTCCCACCTG... | benign | 191,104 |
Is the genetic change at chromosome 12, position 2669106, within gene CACNA1C benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTAGGCTAGAGGGGTTCGGCGTTCTTTTCCTGGAGTTGGAAGGCCATTAGAAAGCCCAGGCATTGACTTCAGGGGTCTTTGAGTCCTAAAATTTTTCATAAAATCACTAAAATACAAAGTTTACCAGGGAGAGGATTTCTCACTTTAATCAGATTCCTTAGTGAGACCATGACCCAAAAAAAAAGTGTCGTTTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAG... | CTAGGCTAGAGGGGTTCGGCGTTCTTTTCCTGGAGTTGGAAGGCCATTAGAAAGCCCAGGCATTGACTTCAGGGGTCTTTGAGTCCTAAAATTTTTCATAAAATCACTAAAATACAAAGTTTACCAGGGAGAGGATTTCTCACTTTAATCAGATTCCTTAGTGAGACCATGACCCAAAAAAAAAGTGTCGTTTCCTTTTCTCCCTCCCCTCCACCATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAG... | benign | 191,159 |
Clinical classification of chromosome 12, position 2669338, gene CACNA1C: benign or pathogenic? Disease(s) if pathogenic? | benign | CTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAGAGGGCTGGAGAGAGGAGGAAACTCAGATGGCAGGAGGATTCGGCTCTGTGAGAATCCACTCATGGAAAACGCAGATTGAGGGAACATAGAACCTTCTACTTGTGCTCTGTTTACTGAGTTTCTTCTCATTTGTGCCTCCACTTTGCTCCAAAAACAAACAAACAACAACAACAACAAAAACAGATTTTAAGAGATTTCCAAGGGCATAGAAAATATCAGAAAAGAGCATAAA... | CTTTTCTCCCTCCTCTCCACCGTGGCCATTCCGTGCTCCTTGTTGGGGCAATAATGAGCTGACAGAGAGCTGGGGGAAGGGAGACCAGAGGGCTGGAGAGAGGAGGAAACTCAGATGGCAGGAGGATTCGGCTCTGTGAGAATCCACTCATGGAAAACGCAGATTGAGGGAACATAGAACCTTCTACTTGTGCTCTGTTTACTGAGTTTCTTCTCATTTGTGCCTCCACTTTGCTCCAAAAACAAACAAACAACAACAACAACAAAAACAGATTTTAAGAGATTTCCAAGGGCATAGAAAATATCAGAAAAGAGCATAAA... | benign | 191,160 |
Determine whether the variant at chromosome 12, position 2682532, in gene CACNA1C is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCCTGCATCGTGCCTGGCCACGCTTCACTGTGCTGCTCTTCCAGAGTAGGAGAGTGGCTCCCAGCAGGCTGCACAGCCCCCCAGCATGCCAGGTTCTTGACATGCTCGCCCTCCAGCTCAGAAAATAATAGAGAAGTAGCAGCTTCCCTCTAAACCCCTGGAAAAGTGTCCATCCAAGGAGCAGGCACACCTGCCGCTGGCCTGCCTGTCCCTGCAGAGGGCCCATTTCAAGAGGGCTGCATGCAAGCCCATGGGACTCAGGCATTTAATTGTGTCAGACGACAGGCCAGTTAAAAGGACCATCTCCCTGTCTGCTTTCC... | CCCTGCATCGTGCCTGGCCACGCTTCACTGTGCTGCTCTTCCAGAGTAGGAGAGTGGCTCCCAGCAGGCTGCACAGCCCCCCAGCATGCCAGGTTCTTGACATGCTCGCCCTCCAGCTCAGAAAATAATAGAGAAGTAGCAGCTTCCCTCTAAACCCCTGGAAAAGTGTCCATCCAAGGAGCAGGCACACCTGCCGCTGGCCTGCCTGTCCCTGCAGAGGGCCCATTTCAAGAGGGCTGCATGCAAGCCCATGGGACTCAGGCATTTAATTGTGTCAGACGACAGGCCAGTTAAAAGGACCATCTCCCTGTCTGCTTTCC... | benign | 191,250 |
Variant at chromosome 12, position 4372578, gene FGF23 (fibroblast growth factor 23): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTC... | AGGGGGTCCCGCTCCGAGTCGTCCTCGGCGCTCCGGGTGTGCCGCCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTC... | benign | 191,392 |
Clinical classification of chromosome 12, position 4912121, gene KCNA1 (potassium voltage-gated channel subfamily A member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Episodic_ataxia_type_1', 'Inborn_genetic_diseases'] | GATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGC... | GATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGC... | pathogenic | 191,470 |
Benign or pathogenic: chromosome 12, position 5949034, gene VWF (von Willebrand factor) variant? Disease(s) if pathogenic? | pathogenic; ['VWF-related_disorder'] | TTCAGCTTTTTTCTTGACGGTAAAATGACATATCAGTAAACATGAGAAGTTCAAGCTAGCAAGACACAGGCAGTTGGAAAATCAACCACCTATGCTGCAGTGGTAGCCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAA... | TTCAGCTTTTTTCTTGACGGTAAAATGACATATCAGTAAACATGAGAAGTTCAAGCTAGCAAGACACAGGCAGTTGGAAAATCAACCACCTATGCTGCAGTGGTAGCCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAA... | pathogenic | 191,528 |
Clinical impact (benign or pathogenic) of the variant at chromosome 12, location 5969275, gene VWF (von Willebrand factor): what disease(s) if pathogenic? | pathogenic; ['von_Willebrand_disease_type_3', 'von_Willebrand_disorder'] | ATAAGCCTGGCAAATACTGTGTTTATTCTGAAAACTCAGGAAGAAAATGTTTGCAACTTATAAAACTAAAATTATAATTATTTCTGAGGCATGCAGTTTGGGTGGGTGATTTTTAGTCTCTTCTTTATTATTGTCAATTATTGTTTATAATCAGAAAATAATGAGAGATTTATTTATTTAAAGACCGCAGTGAGGTCCCACTGCCTGGGTCCCACACGCGTCCAGTCCATGCCCTCGGTCCCCATTGAGCCTCTCTTACCAGGGGGCAGGGGTTGCAGGTGGTCTTCCTGCACTCCAGCTTGAATCCAGAGATGACCCCC... | ATAAGCCTGGCAAATACTGTGTTTATTCTGAAAACTCAGGAAGAAAATGTTTGCAACTTATAAAACTAAAATTATAATTATTTCTGAGGCATGCAGTTTGGGTGGGTGATTTTTAGTCTCTTCTTTATTATTGTCAATTATTGTTTATAATCAGAAAATAATGAGAGATTTATTTATTTAAAGACCGCAGTGAGGTCCCACTGCCTGGGTCCCACACGCGTCCAGTCCATGCCCTCGGTCCCCATTGAGCCTCTCTTACCAGGGGGCAGGGGTTGCAGGTGGTCTTCCTGCACTCCAGCTTGAATCCAGAGATGACCCCC... | pathogenic | 191,548 |
Clinically, how would you classify the variant at chromosome 12, position 6016196, gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['von_Willebrand_disease_type_3'] | GAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGTGAGAGATGATGGGGACTCGGATTGAGGTGACC... | GAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGTGAGAGATGATGGGGACTCGGATTGAGGTGACC... | pathogenic | 191,600 |
The chromosome 12, position 6016619 genetic variant in gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['von_Willebrand_disorder'] | ATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGG... | ATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGCTTTGGACGGTTAAATGACTTGCTCTGG... | pathogenic | 191,606 |
Is the genetic change at chromosome 12, position 6018805, within gene VWF (von Willebrand factor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_von_Willebrand_disease', 'von_Willebrand_disease_type_2'] | TATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACC... | TATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACC... | pathogenic | 191,622 |
For chromosome 12, position 6018826, gene VWF (von Willebrand factor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Von_Willebrand_disease_type_2A'] | CCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGA... | CCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGA... | pathogenic | 191,623 |
Evaluate this variant at chromosome 12, position 6019004, gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['von_Willebrand_disorder'] | TGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCT... | TGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCT... | pathogenic | 191,627 |
A mutation at chromosome position 6019193 on chromosome 12 in gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_von_Willebrand_disease', 'VWF-related_disorder', 'von_Willebrand_disease_type_1', 'von_Willebrand_disease_type_2', 'von_Willebrand_disease_type_2M'] | CAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAAC... | CAGCAGGCATAGGCTTCCTCGGTAAGAAGGGGCCACCATTCTTCTAGAAATGAGTAAAATACTGGCCTGGCAATACAAGGAGACTGCAAAAGGAAATGGAGCGGCAGCCCCTCCCTGGACAATGAGCTGCTGTGTCCTCAGATCTTGCAGGGCAGGTGAACATACTGTGATTCTTCCAGCTATAAATGCCTAGTGCTCCTGTTAGTGTCTGAGCACATCTGAGATTTGATGAAATGATGTAATTGTTGTTTTCCTCAGCAGAAATATTACAAGAATTTAAATAAATCTATGGCCGTGAATAAAAACAAAAACAAAGAAAC... | pathogenic | 191,636 |
Is the variant located on chromosome 12 at position 6019584, gene VWF (von Willebrand factor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['von_Willebrand_disease_type_2'] | CACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTC... | CACCGAATAAAGATGTTCAGGAACTAGGAATGGATTAGACGCCAGTGTCAGTAAAAGGTAGTAGTAACAGCAGTGGGAGCAAGCATTTTTTTTTGAGCACTTGTCATGTGCCAGATACTATTTTAAGCAAGTAGGTGCTATTATTATCCCCATTTTATAGATGAGGATACACAAAGATGTGTATCCTTTGTATAGATGATATACAAAGAGGTTAAGTATTTGCCTCATCCTTTGTATAGACGATATACAAAGAGGTTAAGTATTTGCCCAAAATTACCCAGCTAGCAAGTAGCAGAGATAAGATTCAAACTAAGGCAGTC... | pathogenic | 191,666 |
Mutation at chromosome 12, position 6025644, within VWF (von Willebrand factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['von_Willebrand_disease_type_1'] | AGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAG... | AGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCCAGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGGAGCAGGTGTCGTAAATGCAGACATCCAGATATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGGTGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAG... | pathogenic | 191,700 |
Evaluate the clinical significance of the mutation at chromosome 12, position 6044294 in gene VWF (von Willebrand factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['VWF-related_disorder', 'von_Willebrand_disease_type_1'] | CTGTCAAGTCCTCAGAAGAATGCAGAATCCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAA... | CTGTCAAGTCCTCAGAAGAATGCAGAATCCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAA... | pathogenic | 191,719 |
The chromosome 12, position 6044297 genetic variant in gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Abnormal_bleeding', 'Hereditary_von_Willebrand_disease', 'von_Willebrand_disease_type_1', 'von_Willebrand_disease_type_2', 'von_Willebrand_disease_type_3'] | TCAAGTCCTCAGAAGAATGCAGAATCCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATA... | TCAAGTCCTCAGAAGAATGCAGAATCCGTGACCCCTTCCCCAAGCCCTTAGTGACATCCCACAACCCTGCCCCTTCACAAGGGACAGACTGGACAGAGGAACACCCCGAGGGATGATGTCTGCACCATCAGATGGGCCCAAACAGGGTGTTTCCAGGCCCAGCTCCATTTTCTTTGTGTTATGGCCAAGAACACGTGTCCCGTGCTGCAGGCGGCACGCTGCGCACCCTTAATAAATTACACGGACTTCTCTGCTCTCTCGAATCTGGCCGCAATAATTTGCACACTCGCCGGCATCGTAAGGAAGCAGTTGTGAAAATA... | pathogenic | 191,720 |
Evaluate if the mutation on chromosome 12 at position 6052797 in VWF (von Willebrand factor) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CAGGAGTTCGAGACCAGCCTGACATGGCGAAACCCCGTCTCTACTAAAATACAAAAATTAGCGGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGATGAGGCAAGAGAATCGCTTGAACCCCAGAGGTGGAGGTTGCAGCGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAATTCAGTCTCAAAAAAAAAAAAAAGAAGTGAACATGGATTGAATGTTAGACGTTATTAAGGAATTATTGTTCATGTTCAGGTTAATAATGGTACCTTTACTTTTTTAATCGTTTATTTATTGA... | CAGGAGTTCGAGACCAGCCTGACATGGCGAAACCCCGTCTCTACTAAAATACAAAAATTAGCGGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGATGAGGCAAGAGAATCGCTTGAACCCCAGAGGTGGAGGTTGCAGCGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAATTCAGTCTCAAAAAAAAAAAAAAGAAGTGAACATGGATTGAATGTTAGACGTTATTAAGGAATTATTGTTCATGTTCAGGTTAATAATGGTACCTTTACTTTTTTAATCGTTTATTTATTGA... | benign | 191,733 |
Regarding the variant found on chromosome 12 at position 6057920 in gene VWF (von Willebrand factor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic | TCAAGCAATCCTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCT... | TCAAGCAATCCTCTTGCCTCAACCTCCCAAGTAGCTGGGACTACACCTACATTTTAATTTCTAAACACATCTACTTTACCCTAAAAAACAGAATATCCACTATGCCTTATTCTTAACAGAATATACTCGTCACTTCTATGCCTACTATGATTCTACCATTGGAAACAAGTCTTCTCTGCCAAGAAAGCAGCTTTTTAAAACCCTAGCCAAGTACACGTCCTCCAGAAAGCCTTCCTTGGTTTTCCCTGCCCTGAATCTACTCATCCTTTCACTTAGTAGGATAGGTATCTAGTAGGGCGGCCATTTCCATCTGTGACTCT... | pathogenic | 191,737 |
Is the genetic change at chromosome 12, position 6065216, within gene VWF (von Willebrand factor) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Von_Willebrand_disease_type_2A'] | CAATGACTTAGGGGCAGATGGGGTGGCCATGAGGTTTAAGGGGGTGTCAGGAGGAAGGGTGATCAAGGTGGACAGAGCGCAAATAGGGTCCCCCAGGAAGAAGCCTCTGCACCCCCCGCTATGACCTGCCATTCCCCCTACTGCCACAGGAGGGAGGCAGAGGCTCCTGCATCCTGGGCTGTAGGCAGGTGCCCTGGAGCAGAGGGGGATCTCTTTAGCATTGACACCACGACATCTGAATGTGCCTGGGACACTCTGCCACTGCACACCACCTCATGTCTGAGCGATGCTGTGTACGACACTGAATACAGCAATTGTTG... | CAATGACTTAGGGGCAGATGGGGTGGCCATGAGGTTTAAGGGGGTGTCAGGAGGAAGGGTGATCAAGGTGGACAGAGCGCAAATAGGGTCCCCCAGGAAGAAGCCTCTGCACCCCCCGCTATGACCTGCCATTCCCCCTACTGCCACAGGAGGGAGGCAGAGGCTCCTGCATCCTGGGCTGTAGGCAGGTGCCCTGGAGCAGAGGGGGATCTCTTTAGCATTGACACCACGACATCTGAATGTGCCTGGGACACTCTGCCACTGCACACCACCTCATGTCTGAGCGATGCTGTGTACGACACTGAATACAGCAATTGTTG... | pathogenic | 191,750 |
The chromosome 12, position 6073623 genetic variant in gene VWF (von Willebrand factor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | AAGAAAGAAAAAAAAACTACCTGATCCCCCTGAAAATCTACTCAGATACCAAGAAGTCAAATTCCTACCCCACACACAGTGAGTGGCAGAGAGCAAGAGAGCGATATGGAAATGGGTAGCTCCCAGCCCAGAAGTGTGGTGGGCGGTGGCCGACTGAGAACCTGGGGGCTCAGTGCACACAGAAGGCTGCTAAGATAGCAAAGGGAGGAGGCCTGGGGACCAAACGAGTTGTCCCTGCTGTGCAGGAGACTGGCAAAGCCAGCCAGAGGTGACATCCAGGGGTGCTTCTTGAGATGACAGAAGCCAGGCTGGGCCTGGCC... | AAGAAAGAAAAAAAAACTACCTGATCCCCCTGAAAATCTACTCAGATACCAAGAAGTCAAATTCCTACCCCACACACAGTGAGTGGCAGAGAGCAAGAGAGCGATATGGAAATGGGTAGCTCCCAGCCCAGAAGTGTGGTGGGCGGTGGCCGACTGAGAACCTGGGGGCTCAGTGCACACAGAAGGCTGCTAAGATAGCAAAGGGAGGAGGCCTGGGGACCAAACGAGTTGTCCCTGCTGTGCAGGAGACTGGCAAAGCCAGCCAGAGGTGACATCCAGGGGTGCTTCTTGAGATGACAGAAGCCAGGCTGGGCCTGGCC... | pathogenic | 191,758 |
Clinical classification of chromosome 12, position 6123146, gene VWF (von Willebrand factor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_von_Willebrand_disease', 'VWF-related_disorder', 'von_Willebrand_disorder'] | GGAATCCTCCCCCACACCAGGGCTAAGCTCAGCCAGCCCTCCCTCTGAAGTCCTCCCTGCAGTGCCCAGAACTCACCAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCGCAAAGCTGTACATGCTCCCATCAAAGGTGTTGACGAAGTCACTTCCGAAAAGGCTGCATCGGGCCGTGGATGACCTGCCGCGAGTTCCTTCTGCACAAAGGGTCCCTGGAGGGAGAGGCCACAGGTTGGGCTGGTGATCTCAGGGCACAACTGGGACCATCAGCTCAAACCTCTCTGGCCTCGT... | GGAATCCTCCCCCACACCAGGGCTAAGCTCAGCCAGCCCTCCCTCTGAAGTCCTCCCTGCAGTGCCCAGAACTCACCAATAATCGAGAAGGAGCGTTTCTGGCAGCCCCCTGCCAGGAGGTAACTGCAGTATCCCGCAAAGCTGTACATGCTCCCATCAAAGGTGTTGACGAAGTCACTTCCGAAAAGGCTGCATCGGGCCGTGGATGACCTGCCGCGAGTTCCTTCTGCACAAAGGGTCCCTGGAGGGAGAGGCCACAGGTTGGGCTGGTGATCTCAGGGCACAACTGGGACCATCAGCTCAAACCTCTCTGGCCTCGT... | pathogenic | 191,770 |
Benign or pathogenic: chromosome 12, position 6329759, gene TNFRSF1A (TNF receptor superfamily member 1A) variant? Disease(s) if pathogenic? | benign | GAGTCCTCAGGGGAGGAGGAAGAAGAGGGGCCTCTGTTCCTGAAAGCTGGCCACACATCCCTGCGCCCAATGCGGGCTGAGGACATGCTCAGAGAGATCCGGGAGGAGCTGGCCAGCCAAAGGATTGAGGGGGCCGAGGAGCCCCGGGACAGCAGGCCACGGAAGCTGACTCGGGCCCAGCTGCAGAGGATGCGGGGGCCCCACATCATTCAGCTGGACACCCCTCTGTCCGCATCGTAAGTGCTGGAGGGAAGCTGGCCTGGGAGGGGGCAGACGGGGATGTCTGTATGGTGGTGGGGTGTAGTATAGAAAGAGGGCAA... | GAGTCCTCAGGGGAGGAGGAAGAAGAGGGGCCTCTGTTCCTGAAAGCTGGCCACACATCCCTGCGCCCAATGCGGGCTGAGGACATGCTCAGAGAGATCCGGGAGGAGCTGGCCAGCCAAAGGATTGAGGGGGCCGAGGAGCCCCGGGACAGCAGGCCACGGAAGCTGACTCGGGCCCAGCTGCAGAGGATGCGGGGGCCCCACATCATTCAGCTGGACACCCCTCTGTCCGCATCGTAAGTGCTGGAGGGAAGCTGGCCTGGGAGGGGGCAGACGGGGATGTCTGTATGGTGGTGGGGTGTAGTATAGAAAGAGGGCAA... | benign | 191,782 |
Is the genetic variant on chromosome 12, position 6333881, gene TNFRSF1A (TNF receptor superfamily member 1A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAA... | TCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGCAGGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGATTAATGGAAAATAAATAGTTTTGTGTCAGACGTGTTGTAGGTTTTGTTTGTTTCTTTGTTTTTGGTTCTCACAAATTCACCAAATGAATGTCATTATGCTTACTTTAAATATAAGAAATCTAA... | benign | 191,813 |
Does the chromosome 12 mutation at position 6346853 within gene SCNN1A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGACTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTATAGGCATGTGCCATCATGCCCGGCTAATTTTTTGTATTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCAATGTCCTATTTTTAATGTTATAAGGTATTTCTAATAGTCTGTGCAAAGCGCCAAAGCCGTGACACATAGCCTGGTACAAAAGGAGAATATTTTTCAATATTTA... | TGACTCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTATAGGCATGTGCCATCATGCCCGGCTAATTTTTTGTATTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCAATGTCCTATTTTTAATGTTATAAGGTATTTCTAATAGTCTGTGCAAAGCGCCAAAGCCGTGACACATAGCCTGGTACAAAAGGAGAATATTTTTCAATATTTA... | benign | 191,826 |
Chromosome 12, position 6349211, gene SCNN1A (sodium channel epithelial 1 subunit alpha): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_2', 'Liddle_syndrome_3', 'Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive'] | ATGGTTGGGGAAACTTTCAGGCTGAGGAAATATCTCAAGCAGACATGTAGAGGTATGAAAGACACAGGGCAGAGGTGCCGGGGCATGGCTCTGTGAGGGCACGGGTATGAGGCTAGAGGAGCCCTGGGTCTGCCTTTACTTACCCGGGTCTGCTCTAGCCCTAGCCCTCGGGAGTCAGGGAAGGGGAATTGCCTAAGTAACAAAGGGGGCTTTTGGGTGGGGTTTCCCACCCAAGTTCAAGAGGAGGAGCAGACATCTGTGCTACTGGAGAGCAGTGTGGCCAGGCCAGTCGGGGGCTGGCTTAAGCCGTCGCTGGGCAG... | ATGGTTGGGGAAACTTTCAGGCTGAGGAAATATCTCAAGCAGACATGTAGAGGTATGAAAGACACAGGGCAGAGGTGCCGGGGCATGGCTCTGTGAGGGCACGGGTATGAGGCTAGAGGAGCCCTGGGTCTGCCTTTACTTACCCGGGTCTGCTCTAGCCCTAGCCCTCGGGAGTCAGGGAAGGGGAATTGCCTAAGTAACAAAGGGGGCTTTTGGGTGGGGTTTCCCACCCAAGTTCAAGAGGAGGAGCAGACATCTGTGCTACTGGAGAGCAGTGTGGCCAGGCCAGTCGGGGGCTGGCTTAAGCCGTCGCTGGGCAG... | pathogenic | 191,841 |
The chromosome 12, position 6363586 genetic variant in gene SCNN1A (sodium channel epithelial 1 subunit alpha): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GAGACCAGCCTGACCAACATGGACGTTGACCAACGTCTCTACTAAAAATAAAAAAATTAGCCAGGCGTGGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGACCCCAGGAGGTGAAGGTTGCAGACAGCCGAGATCGCGCCATTGCACTCCAGCCTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAGAAAAACAAAAAAGACCAAGATCCATGCTTCCAGCCTTTGGTTTCTCAAAGCCCCAGTCTTCCCAAGGCATCCTGTGAGGCCACTTCCCTCAGATCCAGCAGTGCA... | GAGACCAGCCTGACCAACATGGACGTTGACCAACGTCTCTACTAAAAATAAAAAAATTAGCCAGGCGTGGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGACCCCAGGAGGTGAAGGTTGCAGACAGCCGAGATCGCGCCATTGCACTCCAGCCTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAGAAAAACAAAAAAGACCAAGATCCATGCTTCCAGCCTTTGGTTTCTCAAAGCCCCAGTCTTCCCAAGGCATCCTGTGAGGCCACTTCCCTCAGATCCAGCAGTGCA... | benign | 191,853 |
Is the genetic mutation found on chromosome 12 at position 6363620, within the gene SCNN1A (sodium channel epithelial 1 subunit alpha), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_2', 'Liddle_syndrome_3', 'Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive'] | GTCTCTACTAAAAATAAAAAAATTAGCCAGGCGTGGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGACCCCAGGAGGTGAAGGTTGCAGACAGCCGAGATCGCGCCATTGCACTCCAGCCTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAGAAAAACAAAAAAGACCAAGATCCATGCTTCCAGCCTTTGGTTTCTCAAAGCCCCAGTCTTCCCAAGGCATCCTGTGAGGCCACTTCCCTCAGATCCAGCAGTGCAGGGAGCAGCAGGAGTTCGTAGGGCGCTCTCTGGG... | GTCTCTACTAAAAATAAAAAAATTAGCCAGGCGTGGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGACCCCAGGAGGTGAAGGTTGCAGACAGCCGAGATCGCGCCATTGCACTCCAGCCTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAGAAAAACAAAAAAGACCAAGATCCATGCTTCCAGCCTTTGGTTTCTCAAAGCCCCAGTCTTCCCAAGGCATCCTGTGAGGCCACTTCCCTCAGATCCAGCAGTGCAGGGAGCAGCAGGAGTTCGTAGGGCGCTCTCTGGG... | pathogenic | 191,855 |
Mutation at chromosome 12, position 6445439, within CD27: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Lymphoproliferative_syndrome_2'] | GGCTCAGCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCA... | GGCTCAGCGAACTGCAAGTCCCTGTTCGACAAGTTTCTTCCTAAAGGTCCCCAGTTCCTCATGATTCTTCTGAGGGTCTCATCCACCCTCCCAGGGCCTGCAGTCAGCTAGCCACCCCACTGCCCCATGCCTGCAGTGAACACATTTACCACAACCTGGAAATGGCTGGTGACAGAAAAGTCCTCACGGCCACAACACTCTCTGCGGTGGGAATTCAGGTGCCTTGCCTGATGGTGACAAAGCTGGTTTTGCATAAACAGCTCTCTGAATCACACCCAAATGTGGCTTCTGACTTGAGTGGACCCCCATGAAGAGCTGCA... | pathogenic | 191,877 |
Variant on chromosome 12, at position 6450309, affecting CD27: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lymphoproliferative_syndrome_2'] | AGGGCTCCCCGGGTCCCCACAAGTGTCTGCCCTAAGGCCCACCAGGCTTTCTTGCAGCCTGTCCCACATCTGGGTGTCACTGCCTTCCTCTGAATCACCCTCCTCTCAAACCAGCCGCCAGCGAGCCCAGCCCAGCCCAGCTAGTGCCCTACCACACCCGCCCCCAGGATAATTAACACCCAGCCACCCAGCATCGGACCTCTACACTTGAGCAAAATGTATATTTTAAAGGCAAATTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA... | AGGGCTCCCCGGGTCCCCACAAGTGTCTGCCCTAAGGCCCACCAGGCTTTCTTGCAGCCTGTCCCACATCTGGGTGTCACTGCCTTCCTCTGAATCACCCTCCTCTCAAACCAGCCGCCAGCGAGCCCAGCCCAGCCCAGCTAGTGCCCTACCACACCCGCCCCCAGGATAATTAACACCCAGCCACCCAGCATCGGACCTCTACACTTGAGCAAAATGTATATTTTAAAGGCAAATTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA... | pathogenic | 191,882 |
Gene VAMP1 variant at chromosome 12, position 6464889—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Myasthenic_syndrome,_congenital,_25,_presynaptic', 'Spastic_ataxia_1', 'Spastic_paraplegia', 'VAMP1-related_disorder'] | CCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATG... | CCCTTGGGCAGGACGAAGGGAATGTGGGAAACAAGGGCGAAAGGAAAGGAAGGATGGTTTTGAGCAATGAAATGCTGCTGCATGGAAAGTGGGCATCCAGACCCTGCCCAGCATGGCCTCAGCCTCTTCCTGTTCGTGGACCGAGGGAAGAAGGAATAAAGGGCCATGGGCATTCTCCGCTCTGTTCCCAGCCTGCCCTCCTCCCCTTGCACCTGGGCTTATCCCACATTAATAGCCCATCCTGAAGCTCAGCAATTGCCCCGAAGATAGGCTGAGCAGATCCCATCCTCAGGTTCCACTGTCTATACACACAAACCATG... | pathogenic | 191,895 |
Gene mutation in NCAPD2 (non-SMC condensin I complex subunit D2) at chromosome 12, position 6526306—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Microcephaly_21,_primary,_autosomal_recessive'] | CAGAGCAAGGAGGGAGGGCATTTCAAACAGAACCCAAGAAAGAGCACAGTTCACATTGTAGAACAAAGAAGACTGTGTTCTGGTTCAAATTATCTGGAAAAGACCAGGCGCGATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGATTACCTGAGGTCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGCGAAACCCCACCTTTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAGTTGCTTGAACCCAGGA... | CAGAGCAAGGAGGGAGGGCATTTCAAACAGAACCCAAGAAAGAGCACAGTTCACATTGTAGAACAAAGAAGACTGTGTTCTGGTTCAAATTATCTGGAAAAGACCAGGCGCGATGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGATTACCTGAGGTCTGAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGCGAAACCCCACCTTTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAGTTGCTTGAACCCAGGA... | pathogenic | 191,908 |
Variant at chromosome 12, position 6593406, gene CHD4 (chromodomain helicase DNA binding protein 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTC... | GACAAAGTCCCAAAAGAACTACACAGAAAAGGAGATGCACAAGAAGTTACAGTCCAAAGATATAAGCAAATGAGGATTCCTGAAACTAAACAACTCCTTCTCTCTCACCATTGAAGCGGTCAATGGCCTCTTGCCGCATGTTCCCAGTGATTCCACCATCGATGCGTTCGTATTTATAACCTTCATGTTCCAAGAAATCCTCTAGCAGGTCTAGCATCTTGGTCATCTGCAAAAGAAGCACGGTTTAATTATGGAAGAGTCAGATGGTAATCCCTTTCCTTAGGTCACTAAGGGTTGTCTATGACTGTTCCCTAAAGCTC... | benign | 191,951 |
Benign or pathogenic: chromosome 12, position 6800214, gene CD4 (CD4 molecule) variant? Disease(s) if pathogenic? | benign | ACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGGCAAGAACTTTTTAAAAGTGCATCTTGCG... | ACTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGGCAAGAACTTTTTAAAAGTGCATCTTGCG... | benign | 191,977 |
Evaluate the clinical significance of the mutation at chromosome 12, position 6844092 in gene GNB3 (G protein subunit beta 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGACAGCATCTTTTCTTTCTTAGTGATGCATCTTAGATTGGATTAAATATGTTAATAGTGAACACTTTTTATGAGCCAGATACTGGGCTAAGCTGCATAAATACCTGATTTCATTGAATTTTCATGATATCTCTGTAAGGTAGGTGCTATGATAAGCCTCATTTTACACCTTGAGTAAACAGACTCAGGGAGGTGAAGCAACTTGCCCAAGATAACAAAGCAGGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCCCTTTGGGAGACTGACGTGAAAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAA... | TTGACAGCATCTTTTCTTTCTTAGTGATGCATCTTAGATTGGATTAAATATGTTAATAGTGAACACTTTTTATGAGCCAGATACTGGGCTAAGCTGCATAAATACCTGATTTCATTGAATTTTCATGATATCTCTGTAAGGTAGGTGCTATGATAAGCCTCATTTTACACCTTGAGTAAACAGACTCAGGGAGGTGAAGCAACTTGCCCAAGATAACAAAGCAGGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCCCTTTGGGAGACTGACGTGAAAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAA... | benign | 191,998 |
Variant in GNB3 (G protein subunit beta 3), chromosome 12, position 6844092—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTGACAGCATCTTTTCTTTCTTAGTGATGCATCTTAGATTGGATTAAATATGTTAATAGTGAACACTTTTTATGAGCCAGATACTGGGCTAAGCTGCATAAATACCTGATTTCATTGAATTTTCATGATATCTCTGTAAGGTAGGTGCTATGATAAGCCTCATTTTACACCTTGAGTAAACAGACTCAGGGAGGTGAAGCAACTTGCCCAAGATAACAAAGCAGGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCCCTTTGGGAGACTGACGTGAAAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAA... | TTGACAGCATCTTTTCTTTCTTAGTGATGCATCTTAGATTGGATTAAATATGTTAATAGTGAACACTTTTTATGAGCCAGATACTGGGCTAAGCTGCATAAATACCTGATTTCATTGAATTTTCATGATATCTCTGTAAGGTAGGTGCTATGATAAGCCTCATTTTACACCTTGAGTAAACAGACTCAGGGAGGTGAAGCAACTTGCCCAAGATAACAAAGCAGGCCGGGCGCAGTGGTTCACGCCTGTAATCCCAGCCCTTTGGGAGACTGACGTGAAAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAA... | benign | 191,999 |
Considering the variant on chromosome 12, location 6936728, involving gene ATN1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGAAAGGCCAGATCATAGTGCTTATGAGAGCAGTTCTGTCTATAATATGCCAGAGAGATTCTTAGAGCTTTGACAGACCACCAGATGACCAGGCAGGGCCAAAGGGGACCAGAAGAGTTGGGGGATTCTAGTCTCTGGGTGAGAAGTCTTAGTCGGAGGAACAAATAAATCTTAAGGAAAATGCAGAAGTGGTCTTTCTTTTTTATTGTTTTTTTTTGTTTGTTTGTTTTTGAGACAGTTTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAACAATTGT... | AGAAAGGCCAGATCATAGTGCTTATGAGAGCAGTTCTGTCTATAATATGCCAGAGAGATTCTTAGAGCTTTGACAGACCACCAGATGACCAGGCAGGGCCAAAGGGGACCAGAAGAGTTGGGGGATTCTAGTCTCTGGGTGAGAAGTCTTAGTCGGAGGAACAAATAAATCTTAAGGAAAATGCAGAAGTGGTCTTTCTTTTTTATTGTTTTTTTTTGTTTGTTTGTTTTTGAGACAGTTTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAACAATTGT... | benign | 192,034 |
Is the genetic variant on chromosome 12, position 6936728, gene ATN1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGAAAGGCCAGATCATAGTGCTTATGAGAGCAGTTCTGTCTATAATATGCCAGAGAGATTCTTAGAGCTTTGACAGACCACCAGATGACCAGGCAGGGCCAAAGGGGACCAGAAGAGTTGGGGGATTCTAGTCTCTGGGTGAGAAGTCTTAGTCGGAGGAACAAATAAATCTTAAGGAAAATGCAGAAGTGGTCTTTCTTTTTTATTGTTTTTTTTTGTTTGTTTGTTTTTGAGACAGTTTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAACAATTGT... | AGAAAGGCCAGATCATAGTGCTTATGAGAGCAGTTCTGTCTATAATATGCCAGAGAGATTCTTAGAGCTTTGACAGACCACCAGATGACCAGGCAGGGCCAAAGGGGACCAGAAGAGTTGGGGGATTCTAGTCTCTGGGTGAGAAGTCTTAGTCGGAGGAACAAATAAATCTTAAGGAAAATGCAGAAGTGGTCTTTCTTTTTTATTGTTTTTTTTTGTTTGTTTGTTTTTGAGACAGTTTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCATTGCAACCTCCGCCTCCTGGGTTCAAACAATTGT... | benign | 192,035 |
The chromosome 12, position 6939122 genetic variant in gene ATN1 (atrophin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Congenital_hypotonia,_epilepsy,_developmental_delay,_and_digital_anomalies'] | CCGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCC... | CCGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCC... | pathogenic | 192,040 |
Mutation at chromosome 12, position 6939139, within ATN1 (atrophin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_hypotonia,_epilepsy,_developmental_delay,_and_digital_anomalies', 'Dentatorubral-pallidoluysian_atrophy'] | CACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCC... | CACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACCGTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGAAAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGGTCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCAGGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCGGGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCC... | pathogenic | 192,041 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 12, position 6943848, gene C12orf57. What disease(s) is it linked to if pathogenic? | pathogenic; ['Aicardi-Goutieres_syndrome_9'] | ACCATGGCTCCTACATTGGACCTTGGAGCACCCCCACCCTCCCCCCACCGTGCCCTTGGCCTGCCACCCAGAGCCAAGAGGGTGCTGCTCAGTTGCAGGGCCTCCGCAGCTGGACAGAGAGTGGGGGAGGGAGGGACAGACAGAAGGCCAAGGCCCGATGTGGTGTGCAGAGGTGGGGAGGTGGCGAGGATGGGGACAGAAAGCGCACAGAATCTTGGACCAGGTCTCTCTTCCTTGTCCCCCCTGCTTTTCTCCTCCCCCATGCCCAACCCCTGTGGCCGCCGCCCCTCCCCTGCCCCGTTGGTGTGATTATTTCATCT... | ACCATGGCTCCTACATTGGACCTTGGAGCACCCCCACCCTCCCCCCACCGTGCCCTTGGCCTGCCACCCAGAGCCAAGAGGGTGCTGCTCAGTTGCAGGGCCTCCGCAGCTGGACAGAGAGTGGGGGAGGGAGGGACAGACAGAAGGCCAAGGCCCGATGTGGTGTGCAGAGGTGGGGAGGTGGCGAGGATGGGGACAGAAAGCGCACAGAATCTTGGACCAGGTCTCTCTTCCTTGTCCCCCCTGCTTTTCTCCTCCCCCATGCCCAACCCCTGTGGCCGCCGCCCCTCCCCTGCCCCGTTGGTGTGATTATTTCATCT... | pathogenic | 192,046 |
Regarding the variant at chromosome 12 and position 6944186, affecting gene C12orf57 (chromosome 12 open reading frame 57): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GCGTAGCATCGTGTGCCACCCCTGCCCCTCCCCGATCCCTGTGTGCGCGCCCCCTCTGCAATGTATGCCCCTTGCCCCTTCCCCACACTAATAATTTATATATATAAATATCTATATGACGCTCTTAAAAAAACATCCCAACCAAAACCAACCAAACAAAAACATCCTCACAACTCCCCAGGAACATGGCTGTGACTATTCTTTGCGGGATATGGGGGTGAGGCTGGGTCTCAGTGCAGCGGTGCTTAGAGAGAACTGCAGCCAGGGCCTGGCAGGGAAGCGGGAAGAGACCAGACCTTCTTAAGGAACGGGGTGTGGGG... | GCGTAGCATCGTGTGCCACCCCTGCCCCTCCCCGATCCCTGTGTGCGCGCCCCCTCTGCAATGTATGCCCCTTGCCCCTTCCCCACACTAATAATTTATATATATAAATATCTATATGACGCTCTTAAAAAAACATCCCAACCAAAACCAACCAAACAAAAACATCCTCACAACTCCCCAGGAACATGGCTGTGACTATTCTTTGCGGGATATGGGGGTGAGGCTGGGTCTCAGTGCAGCGGTGCTTAGAGAGAACTGCAGCCAGGGCCTGGCAGGGAAGCGGGAAGAGACCAGACCTTCTTAAGGAACGGGGTGTGGGG... | benign | 192,065 |
Variant at chromosome position 6944604, chromosome 12, gene C12orf57 (chromosome 12 open reading frame 57): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Temtamy_syndrome'] | TGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTA... | TGGGCAGGACCGCTGCGCGCCAGTGGAGGCCTCGGTCTGGGCTCTGTGGCTTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTA... | pathogenic | 192,068 |
Is the genetic variant on chromosome 12, position 6944654, gene C12orf57 (chromosome 12 open reading frame 57), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTAGAGGCCTGGGACAGGCCCACCTCTGACGTGGTCAGTTCTAGGAATCTATT... | TTATGCCTGTGAGACGCGGGTGGATTGCTTGAGCCCAGGAGTTGGAAACCAGCTTGGGCAACATAGAGAAACCCCATCTTAAGACAAAATCAGCTGGGGGTTGTGGTGCACTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGGGTCGAGGCTACAGTGAGTCATGATCGCACCACTGCACTCTAGCCTGGGTGACAGAGCAAGGCCCTATCTCAAAACAAACAAACAAAAGACACCCCAACCAACCAAACACTAGAGGCCTGGGACAGGCCCACCTCTGACGTGGTCAGTTCTAGGAATCTATT... | benign | 192,070 |
Does the genetic variant at chromosome 12, position 7065079, impacting gene C1S (complement C1s), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CGTTTTACGGGGTTTGCTGCATACTATGTTGCCACAGGTAAGGCTCACCCTTCTGCATGTGCCTTATTGACCCAGCTAAAAGATTAGAAATGAGAAATCCACTGAGCAACACATTGAATGAGGATTCTGTTCGTAATTCTTATAAAAAGTGTTGACTTGGCCTGGGTCGCTCCATAAATCACTTTTGTGAAATTCAAATGCATGATCATATCTTAGTGGTGATGATGATCATGGTAATAACACATAGTACATAATAAACAGCAATTTGTTGAGAGCCACTATAAACTGGGTATGTATTGGGGATTGGGGATTTTTCCTAT... | CGTTTTACGGGGTTTGCTGCATACTATGTTGCCACAGGTAAGGCTCACCCTTCTGCATGTGCCTTATTGACCCAGCTAAAAGATTAGAAATGAGAAATCCACTGAGCAACACATTGAATGAGGATTCTGTTCGTAATTCTTATAAAAAGTGTTGACTTGGCCTGGGTCGCTCCATAAATCACTTTTGTGAAATTCAAATGCATGATCATATCTTAGTGGTGATGATGATCATGGTAATAACACATAGTACATAATAAACAGCAATTTGTTGAGAGCCACTATAAACTGGGTATGTATTGGGGATTGGGGATTTTTCCTAT... | benign | 192,095 |
Clinically, how would you classify the variant at chromosome 12, position 7190512, gene PEX5 (peroxisomal biogenesis factor 5): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Peroxisome_biogenesis_disorder_2A_(Zellweger)', 'Peroxisome_biogenesis_disorder_2B', 'Rhizomelic_chondrodysplasia_punctata_type_5'] | GGCGAAAAGGCAAGGAAAAGGAGAAATGTTGCACAGTCTTATGGTCTGTCCCCTGCCATTCTGTTCCCCTGAGGTGTCAGAGCAGCTTCTCTGTCTTCCCAGGGATGAGTTTACACAGACATTCCCTGTGGCCCCCTGAGGCCTCCACCTCTGAAATCTGCAGAACAGCCAGGAAACAAGCCCGGCCCATGGCGCCACCTGCTGCCTGCCTGCCTCCGCTCATGCACCCTGGGCTGGGATGGTACTTCTGTTCGTCTGGCATTATTGCCCTTGGTCATTTACCGGCAGCCCTGGGCCCCTCCTTGCTCTTCTCCATGACA... | GGCGAAAAGGCAAGGAAAAGGAGAAATGTTGCACAGTCTTATGGTCTGTCCCCTGCCATTCTGTTCCCCTGAGGTGTCAGAGCAGCTTCTCTGTCTTCCCAGGGATGAGTTTACACAGACATTCCCTGTGGCCCCCTGAGGCCTCCACCTCTGAAATCTGCAGAACAGCCAGGAAACAAGCCCGGCCCATGGCGCCACCTGCTGCCTGCCTGCCTCCGCTCATGCACCCTGGGCTGGGATGGTACTTCTGTTCGTCTGGCATTATTGCCCTTGGTCATTTACCGGCAGCCCTGGGCCCCTCCTTGCTCTTCTCCATGACA... | pathogenic | 192,134 |
Is the variant located on chromosome 12 at position 7199209, gene PEX5 (peroxisomal biogenesis factor 5), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | ATATAATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATGTAATAATTATATGTCATATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATATAATGTAATCATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAATAATTATATATATGTCATATACAATGTAATTATATGTCATATACAATGTAATTATGTTATATATAATGTAATAATTATATATGTTATATATA... | ATATAATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATGTAATAATTATATGTCATATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATATAATGTAATCATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAATAATTATATATATGTCATATACAATGTAATTATATGTCATATACAATGTAATTATGTTATATATAATGTAATAATTATATATGTTATATATA... | benign | 192,139 |
Is the genetic change at chromosome 12, position 7202270, within gene PEX5 (peroxisomal biogenesis factor 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Abnormality_of_metabolism/homeostasis', 'Peroxisome_biogenesis_disorder_2B'] | CAGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCTCACATCTCAGACGATGGGTGGTCGGGCAGAGACGCTCCTCACTTCCTCGATGGGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGATGGGGTGGCGGCCAGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGC... | CAGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCTCACATCTCAGACGATGGGTGGTCGGGCAGAGACGCTCCTCACTTCCTCGATGGGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGATGGGGTGGCGGCCAGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGC... | pathogenic | 192,144 |
Gene PEX5 (peroxisomal biogenesis factor 5) variant at chromosome position 7203528 on chromosome 12: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Peroxisome_biogenesis_disorder_2A_(Zellweger)', 'Peroxisome_biogenesis_disorder_2B', 'Rhizomelic_chondrodysplasia_punctata_type_5'] | TTTACCTTGTTCCCTTCTTAATTTTGAGCCTGCTACTATCCCATCTGTATGCAAAGATATGTTTGGGAAAGGGAGAGCTAGAAGGATGTAGCTAGTACTTTCACACTCCTGCCCAAATGTCCTTCTATAATGCAAATTGGAGTTTGTAGGTTCTCAACAGGAGAATGGAGTTCCCTCACAGGAACTGTCATTGTCATGGGCTAGGAGTGGGGAGTAGCATGGGGAGGGTGATGGCAGACTAATGTGTAAAATTAGTTCTTACCCGTTCCAGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGAC... | TTTACCTTGTTCCCTTCTTAATTTTGAGCCTGCTACTATCCCATCTGTATGCAAAGATATGTTTGGGAAAGGGAGAGCTAGAAGGATGTAGCTAGTACTTTCACACTCCTGCCCAAATGTCCTTCTATAATGCAAATTGGAGTTTGTAGGTTCTCAACAGGAGAATGGAGTTCCCTCACAGGAACTGTCATTGTCATGGGCTAGGAGTGGGGAGTAGCATGGGGAGGGTGATGGCAGACTAATGTGTAAAATTAGTTCTTACCCGTTCCAGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGAC... | pathogenic | 192,151 |
Regarding the variant at chromosome 12 and position 7209608, affecting gene PEX5 (peroxisomal biogenesis factor 5): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GAGGCCCTCAGCTTCTCTGCCTGCTGGTTGTCATCCTCACATCCCTGCTGTTCTGACGGTGCCACCTCTCAGTCCATCTCTCACGTGCTTTTCTTGTAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGTGAGTGACTCCATAGTCTCATTTCTGGCTAGAGACTGCTTCCTCCATCTTGAGAAAGGCCCCAAGGAGAGTAGTGC... | GAGGCCCTCAGCTTCTCTGCCTGCTGGTTGTCATCCTCACATCCCTGCTGTTCTGACGGTGCCACCTCTCAGTCCATCTCTCACGTGCTTTTCTTGTAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGTGAGTGACTCCATAGTCTCATTTCTGGCTAGAGACTGCTTCCTCCATCTTGAGAAAGGCCCCAAGGAGAGTAGTGC... | benign | 192,163 |
Variant in MFAP5 (microfibril associated protein 5), chromosome 12, position 8650606—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | ATTAAATAGAAAAATGAGATCCAATCATTCAGTATACATTTACGTGCTTACTATGGGCAAACAGCTAACTTTAGGAAGTCCCTTGAGATACTTGAAAGTGCCTAGAGTCCCAAATACCCATCCTCAATCTCAAGGTGCTTCCCTTGCAGGTGGCTTGCACAAAGCCAATGGGGGCACACAGCAAGTTTCCTTCTGCGAAGTTAACTACAGCTCTTACTCAGGAACTCAGCACAAAGCGGGCTGCTGAGTCAGAAATGGCTTTGTCTGTGGTGTTTTCACCAACCACAGCCATCGTTCGGGGCTGGCCATGGGGAAGGTGA... | ATTAAATAGAAAAATGAGATCCAATCATTCAGTATACATTTACGTGCTTACTATGGGCAAACAGCTAACTTTAGGAAGTCCCTTGAGATACTTGAAAGTGCCTAGAGTCCCAAATACCCATCCTCAATCTCAAGGTGCTTCCCTTGCAGGTGGCTTGCACAAAGCCAATGGGGGCACACAGCAAGTTTCCTTCTGCGAAGTTAACTACAGCTCTTACTCAGGAACTCAGCACAAAGCGGGCTGCTGAGTCAGAAATGGCTTTGTCTGTGGTGTTTTCACCAACCACAGCCATCGTTCGGGGCTGGCCATGGGGAAGGTGA... | benign | 192,258 |
Evaluate if the mutation on chromosome 12 at position 8829787 in A2ML1 is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTGGGCAGACTTTCCAGGTATTTGAAGGGACTTGGGTGTCGTAATCTAAGTGTTTGGACTCTGCAGTTCATCTGCATTAGGGAGGACCCCATGCTCAGTATCTCTGTGGCTCTTGAAGGCTCATAGAGGTACCTCCTTGATGGTCTTGGATAAGATCTGGAAGAATTCCAGATTACCAGGAGGAGACTCCTGTTCTCTTCCCTTACTTTCTCCAAAACAAACAGAGTTTCTCTCTTTGTGCTGAGCTGCCTGGAGAGAGGGGTGACACAAGCACCCCTGTGGCCACCAGCATTGGGACTGCACTGGGTCAGATCTGAAGC... | TTGGGCAGACTTTCCAGGTATTTGAAGGGACTTGGGTGTCGTAATCTAAGTGTTTGGACTCTGCAGTTCATCTGCATTAGGGAGGACCCCATGCTCAGTATCTCTGTGGCTCTTGAAGGCTCATAGAGGTACCTCCTTGATGGTCTTGGATAAGATCTGGAAGAATTCCAGATTACCAGGAGGAGACTCCTGTTCTCTTCCCTTACTTTCTCCAAAACAAACAGAGTTTCTCTCTTTGTGCTGAGCTGCCTGGAGAGAGGGGTGACACAAGCACCCCTGTGGCCACCAGCATTGGGACTGCACTGGGTCAGATCTGAAGC... | benign | 192,306 |
Is the chromosome 12, position 8843328 variant in A2ML1 (alpha-2-macroglobulin like 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TAGTTTGCACCAACCTAATATTTCACTTTACCTCATACTCAAGCTTACTCCAAACCTAATTCTAATCCGTAATGATCTTTGTCCTTCAGATAAGAGTTAGGGGCCATGATGACTCCTTCCTCAAGAACCATCTAGTGTTTCTGGTGATTTATGGCACAAATGGAACCTTCAACCAGACCCTGGTTACTGATAACAATGGCCTAGCTCCCTTTACCTTGGAGACATCCGGTTGGAATGGGACAGACGTTTCTCTGGAGGTAAGCATGGACGGAGGACCAGCTTCCTAGAAAGGAAGGCTTCCCTGAAGGAAAACTTCAGAA... | TAGTTTGCACCAACCTAATATTTCACTTTACCTCATACTCAAGCTTACTCCAAACCTAATTCTAATCCGTAATGATCTTTGTCCTTCAGATAAGAGTTAGGGGCCATGATGACTCCTTCCTCAAGAACCATCTAGTGTTTCTGGTGATTTATGGCACAAATGGAACCTTCAACCAGACCCTGGTTACTGATAACAATGGCCTAGCTCCCTTTACCTTGGAGACATCCGGTTGGAATGGGACAGACGTTTCTCTGGAGGTAAGCATGGACGGAGGACCAGCTTCCTAGAAAGGAAGGCTTCCCTGAAGGAAAACTTCAGAA... | benign | 192,370 |
The genetic variant at chromosome 12, position 8854849, affecting gene A2ML1 (alpha-2-macroglobulin like 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATTCTCCTGCCAAGCCTCCCAAGTAGCTAGGATTACAGTCGCGTGCCACCCTACCCGGCTAATTTTTGTACTTTTAGTAGAGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCTGGCCTTTTATTTTTTTTTAGAGAGACAAGATCTTACTCTGTCACCTAAGCTGGAGTACAGTGGTGTGGTCATTGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCTCACCTAGGCCTCCGG... | ATTCTCCTGCCAAGCCTCCCAAGTAGCTAGGATTACAGTCGCGTGCCACCCTACCCGGCTAATTTTTGTACTTTTAGTAGAGGTGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCTGGCCTTTTATTTTTTTTTAGAGAGACAAGATCTTACTCTGTCACCTAAGCTGGAGTACAGTGGTGTGGTCATTGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCGATCCTCTCACCTAGGCCTCCGG... | benign | 192,445 |
Clinically, how would you classify the variant at chromosome 12, position 8857942, gene A2ML1 (alpha-2-macroglobulin like 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GCAACCATTTTCAAAACTGAGGAATTTGGGTATAGTTTAGGGAAGATACAACCATATTTACAATAGGCAGCACACTTACTGTTTGGGGCAAGGGAGGAAGTGGGTTGAAAAGCATGAACGTAGAAATCATATCTAACCTGTCATTTAATAGCCATGTGACCCTGAACAAGTTAGTGAACAGTTCTGGGCCTTCTTTCCTCTTCTGTAAAACAGTGATAATAACCTACCTCTCAGACTGGTGTAAAGATTAAATGCAATATAAAGTCCCCAGCACAATATCTAGCATGTAGTAGGAGCCCTATGAATGTTAGGCTCTTTCT... | GCAACCATTTTCAAAACTGAGGAATTTGGGTATAGTTTAGGGAAGATACAACCATATTTACAATAGGCAGCACACTTACTGTTTGGGGCAAGGGAGGAAGTGGGTTGAAAAGCATGAACGTAGAAATCATATCTAACCTGTCATTTAATAGCCATGTGACCCTGAACAAGTTAGTGAACAGTTCTGGGCCTTCTTTCCTCTTCTGTAAAACAGTGATAATAACCTACCTCTCAGACTGGTGTAAAGATTAAATGCAATATAAAGTCCCCAGCACAATATCTAGCATGTAGTAGGAGCCCTATGAATGTTAGGCTCTTTCT... | benign | 192,468 |
Assess the variant on chromosome 12, position 8868367, impacting A2ML1 (alpha-2-macroglobulin like 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAAAAAAAAAAAGCACCAAGTTTAAATATGGTAATGACTTAATTGAAACTTAAAAAAATTATATGGTACTATGCCTCCCTGTTTCAGGGAAATTCTTGGCCAAAGATCACAAAATACTCCTTCTTGCTCGGTCCTGAATAATTATAATATATAATAATATTTTTGGAAAGCAGTGGGTGAAATGTTTACAACTCTCAGTGACAGGTATATGTCAGAATCCTTTTTCAATGAAATCCTTGGCTATCACAAGAAGTCATATATCATATATTACCCACACTGGTTTTTCAGCTGACAGTGAGGTCCCTTTCTTTGAATTGTC... | AAAAAAAAAAAAAGCACCAAGTTTAAATATGGTAATGACTTAATTGAAACTTAAAAAAATTATATGGTACTATGCCTCCCTGTTTCAGGGAAATTCTTGGCCAAAGATCACAAAATACTCCTTCTTGCTCGGTCCTGAATAATTATAATATATAATAATATTTTTGGAAAGCAGTGGGTGAAATGTTTACAACTCTCAGTGACAGGTATATGTCAGAATCCTTTTTCAATGAAATCCTTGGCTATCACAAGAAGTCATATATCATATATTACCCACACTGGTTTTTCAGCTGACAGTGAGGTCCCTTTCTTTGAATTGTC... | benign | 192,526 |
Located at chromosome 12 position 11869573, the variant affecting gene ETV6 (ETS variant transcription factor 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Thrombocytopenia_5'] | AACAATATTTTTGTTCAGTGATCATATGATAGATGAGATCTAGTAGAACTTTCAAAAAAGAAAAAAGTCCGCATTTTCTTCTTAACCCTGTGTAAAACTTAAAACCACTATGTCTGTCTCTGTTTACTGACCCTATCAAATTACGGAATTCACTTTATGTGTTCTTCATATATGTATATTATCTTAATGGACAAAGGTGATATGTTTGACTTGCTTTACTTAGAACTGTGGACAATTCTTTGACCAGAACAAGGACAGCAAGCATGCACATCCTTTTGGTGAGACTGCCCTGGGAACAGATGTGGCCAGAGAGAGTTCAT... | AACAATATTTTTGTTCAGTGATCATATGATAGATGAGATCTAGTAGAACTTTCAAAAAAGAAAAAAGTCCGCATTTTCTTCTTAACCCTGTGTAAAACTTAAAACCACTATGTCTGTCTCTGTTTACTGACCCTATCAAATTACGGAATTCACTTTATGTGTTCTTCATATATGTATATTATCTTAATGGACAAAGGTGATATGTTTGACTTGCTTTACTTAGAACTGTGGACAATTCTTTGACCAGAACAAGGACAGCAAGCATGCACATCCTTTTGGTGAGACTGCCCTGGGAACAGATGTGGCCAGAGAGAGTTCAT... | pathogenic | 192,660 |
Considering the genetic mutation at chromosome 12, position 12717859, impacting CDKN1B (cyclin dependent kinase inhibitor 1B): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | AAAAGGAGAGGGTTAAACCACAGGGTCCCGAGGGTCCCTTCCAGCTGTCACATTCTGGAGCGTATGAGATGAGGTAGGCACACAAAGTGGACAAGATGTGGCTAAGAAAACAAGCTACACATCAAGCTCATCTGTAGCATAGGTGCTTAAGAAAACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTC... | AAAAGGAGAGGGTTAAACCACAGGGTCCCGAGGGTCCCTTCCAGCTGTCACATTCTGGAGCGTATGAGATGAGGTAGGCACACAAAGTGGACAAGATGTGGCTAAGAAAACAAGCTACACATCAAGCTCATCTGTAGCATAGGTGCTTAAGAAAACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTC... | pathogenic | 192,738 |
Is chromosome 12, position 12717986, gene CDKN1B (cyclin dependent kinase inhibitor 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | TCATCTGTAGCATAGGTGCTTAAGAAAACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCT... | TCATCTGTAGCATAGGTGCTTAAGAAAACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCT... | pathogenic | 192,769 |
Is chromosome 12, position 12718012, gene CDKN1B (cyclin dependent kinase inhibitor 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Multiple_endocrine_neoplasia_type_4'] | AACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTT... | AACTTTGCTGCTGTGTAATATTAGAACGGAAGGTTGGTTTCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTT... | pathogenic | 192,774 |
For chromosome 12, position 12718051, gene CDKN1B (cyclin dependent kinase inhibitor 1B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | TCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGA... | TCCAGTAAAATGCATTAACTTTGGCTCAAACCAAGATGATGGGTACCGGGCATGGGGGTGGGGAGGCAGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGA... | pathogenic | 192,783 |
Is chromosome 12, position 12718118, gene CDKN1B (cyclin dependent kinase inhibitor 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | AGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCT... | AGTTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCT... | pathogenic | 192,802 |
Chromosome 12, position 12718120, gene CDKN1B (cyclin dependent kinase inhibitor 1B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | TTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGT... | TTGAAGATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGT... | pathogenic | 192,803 |
Chromosome 12, position 12718125, gene CDKN1B (cyclin dependent kinase inhibitor 1B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Multiple_endocrine_neoplasia_type_4'] | GATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTAT... | GATCCACTGAGCTTTGTCTCAGGGCAGCCCTGCTCATCGTCCTACTTTACCTTCCACCACGGTGCTCAAGCCCACACTGAGAGAGAAATTTCCAGCTGCAAAAGGGAGAAGAGAAACGCTGGAATACTAGTATCGGACGTTAGGACATGGTTGTGGTGTTTTAAAAATCATTTCATCATCTGGAGTTTGACCCCGAGGGGAGTATTTTCACCCTTCAGCCCTCTGAAAGCATTCACTAGCATCTGAATATTGTTCTGAGTTTGTTGGAGCAGTGAAATCTGGTGAGAGAGAAGGGTGGAGGAAGGAAGGAGCTGTTGTAT... | pathogenic | 192,807 |
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