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 |
|---|---|---|---|---|---|
Mutation at chromosome 6, position 152505339, within SYNE1 (spectrin repeat containing nuclear envelope protein 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type', 'Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant'] | GCAGCCTCCTCTTTGTGGAGCATTCTCTCCAAATTACAGTGCTTTGAGCAATCAAGCACTCTTCGAGGGAAACTCTTCGAGGGCCTGAGAAGCCCTCAATCACTGTGATTTTGAAGCTTATAGATATTTATCTAATACAAATGGTAAAAATCAGGCAAATAAATTCATACAGATTTAGTAATTATACATGGAGGTAAGAATGCATAAGTAAAACGTGTTGTAAACAAGTCTTTTAAATATCAATTTTAAAGGCAATAGAAATGATTATATCTTACAGAGCAATTTATAGAGCAGAAAGCAAACCAAATTGCCACAATGAA... | GCAGCCTCCTCTTTGTGGAGCATTCTCTCCAAATTACAGTGCTTTGAGCAATCAAGCACTCTTCGAGGGAAACTCTTCGAGGGCCTGAGAAGCCCTCAATCACTGTGATTTTGAAGCTTATAGATATTTATCTAATACAAATGGTAAAAATCAGGCAAATAAATTCATACAGATTTAGTAATTATACATGGAGGTAAGAATGCATAAGTAAAACGTGTTGTAAACAAGTCTTTTAAATATCAATTTTAAAGGCAATAGAAATGATTATATCTTACAGAGCAATTTATAGAGCAGAAAGCAAACCAAATTGCCACAATGAA... | pathogenic | 114,121 |
Gene SYNE1 (spectrin repeat containing nuclear envelope protein 1) variant at chromosome position 152510290 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_ataxia,_Beauce_type'] | AAGTCATCGCCCCAAACCTCTACAATTTATGCAGCTACAAAAGAAATGGATTTTATTGCTTGCTCACGGGTGGAGAACCCTCAGGCCCAGGATTCTGGACATTGGCCCAGATAAGGAAAGTAAAACTTCCACTGATGTTACCAACATATAAGTTGTAGCAATGACTTTGAGCTGTCACCAGACTCTTGCACATCTTTGAAACCCAACATAGCATGCATGAAACTAAATTAAATGCTGGATAACTCCAACAGCATTAAATTTGAGTTTACTTCAAGCTACTGTTTTATTAAAAGAAAATCAATTTGTTTTTGGTTAATTTA... | AAGTCATCGCCCCAAACCTCTACAATTTATGCAGCTACAAAAGAAATGGATTTTATTGCTTGCTCACGGGTGGAGAACCCTCAGGCCCAGGATTCTGGACATTGGCCCAGATAAGGAAAGTAAAACTTCCACTGATGTTACCAACATATAAGTTGTAGCAATGACTTTGAGCTGTCACCAGACTCTTGCACATCTTTGAAACCCAACATAGCATGCATGAAACTAAATTAAATGCTGGATAACTCCAACAGCATTAAATTTGAGTTTACTTCAAGCTACTGTTTTATTAAAAGAAAATCAATTTGTTTTTGGTTAATTTA... | pathogenic | 114,123 |
Clinical classification of chromosome 6, position 156777940, gene ARID1B: benign or pathogenic? Disease(s) if pathogenic? | benign | GAATTGCAATTTGTTGTTTCTACACTCTATAATGACCCTTGGGTGTGCACCTGATTCCCTCCCCCCGACCCCAATTAGTCACCAGTTTTCCCATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGG... | GAATTGCAATTTGTTGTTTCTACACTCTATAATGACCCTTGGGTGTGCACCTGATTCCCTCCCCCCGACCCCAATTAGTCACCAGTTTTCCCATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGG... | benign | 114,139 |
Evaluate this variant at chromosome 6, position 156778031, gene ARID1B: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAA... | CATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAA... | benign | 114,142 |
The genetic variant at chromosome 6, position 156778031, affecting gene ARID1B: benign or pathogenic? Disease name(s) if pathogenic? | benign | CATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAA... | CATCAATCCTTTTCTATTTAGTCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAA... | benign | 114,143 |
The mutation impacting ARID1B on chromosome 6 at position 156778052: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTT... | TCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTT... | benign | 114,144 |
A genetic variant on chromosome 6, position 156778052, affects the gene ARID1B. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTT... | TCATGTAACATATTTACACTTGGTCAAACAAATAACCACTGCTGCAGTGGAAATGAACTAAAATAGTTTTTATGGAAAGCTGAAGAATGAAATAATTTTGGAAAACTATACTCTACCAAAACCGTAAGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTT... | benign | 114,145 |
Evaluate the clinical significance of the mutation at chromosome 6, position 156778178 in gene ARID1B: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAA... | AGTATTGTTTCTGCCAGGTTTTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAA... | benign | 114,150 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 156778198, gene ARID1B. What disease(s) is it linked to if pathogenic? | benign | TTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGT... | TTAAATGCTTTCTCTCAATGAAAACTGAGTCCACACTAGTACAAGTGGGTCATTGCCTAAGGTTAAGAAGTCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGT... | benign | 114,157 |
The genetic variant at chromosome 6, position 156778268, affecting gene ARID1B: benign or pathogenic? Disease name(s) if pathogenic? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,159 |
Is the genetic change at chromosome 6, position 156778268, within gene ARID1B benign or pathogenic? Name the disease(s) if pathogenic. | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,160 |
Variant chromosome 6, position 156778268, gene ARID1B: benign or pathogenic? Disease(s)? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,161 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 156778268, gene ARID1B: what disease(s) if pathogenic? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,162 |
Chromosome 6, position 156778268, gene ARID1B: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,163 |
Classify the chromosome 6 variant at position 156778268 affecting gene ARID1B as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,164 |
Does the chromosome 6 mutation at position 156778268 within gene ARID1B classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,165 |
Variant in ARID1B, chromosome 6, position 156778268—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,166 |
The mutation in gene ARID1B at chromosome 6, position 156778268—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,167 |
Located at chromosome 6 position 156778268, the variant affecting gene ARID1B—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,168 |
Chromosome 6, position 156778268, gene ARID1B: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | TCTTGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACC... | benign | 114,169 |
Variant in ARID1B, chromosome 6, position 156778271—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCAT... | TGCTTTTTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCAT... | benign | 114,170 |
Variant on chromosome 6, at position 156778277, affecting ARID1B: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGT... | TTAAAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGT... | benign | 114,171 |
Is chromosome 6, position 156778280, gene ARID1B variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGC... | AAATGTTACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGC... | benign | 114,172 |
Considering the variant on chromosome 6, location 156778286, involving gene ARID1B, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | TACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCT... | TACTAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCT... | benign | 114,174 |
Variant at chromosome position 156778289, chromosome 6, gene ARID1B: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGC... | TAGGGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGC... | benign | 114,175 |
Is the genetic mutation found on chromosome 6 at position 156778292, within the gene ARID1B, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,176 |
Does the genetic variant at chromosome 6, position 156778292, impacting gene ARID1B, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,177 |
A genetic variant at chromosome 6, position 156778292, affecting gene ARID1B—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,178 |
Variant in ARID1B, chromosome 6, position 156778292—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,179 |
Mutation found at chromosome 6 position 156778292, gene ARID1B: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | pathogenic | 114,180 |
Mutation at chromosome 6, position 156778292, within ARID1B: benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,182 |
Variant on chromosome 6, at position 156778292, affecting ARID1B: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,183 |
Is the variant located on chromosome 6 at position 156778292, gene ARID1B, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,184 |
Variant at chromosome position 156778292, chromosome 6, gene ARID1B: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | GGGACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACC... | benign | 114,185 |
For chromosome 6, position 156778295, gene ARID1B: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAG... | ACAATGCACATATTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAG... | benign | 114,186 |
Clinical classification of chromosome 6, position 156778307, gene ARID1B: benign or pathogenic? Disease(s) if pathogenic? | benign | TTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAGAGTTAAATGTTC... | TTGAAAACATTAATAACAATGCAAATATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAGAGTTAAATGTTC... | benign | 114,188 |
Does the genetic variant at chromosome 6, position 156778333, impacting gene ARID1B, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | ATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAGAGTTAAATGTTCATGTGAAAGTTGGCGCAGAAAACACC... | ATTAAAAACATTATAAAATGTTAATAGACACCAATTTTTAAGAGAACAAAGTATGGAACATTTCTACATTAGGACTAGAGTTGACTGTTTTATATTATTATTGAAGTTATATTTATTAAATATAATGTCTATAATATTTTAGTTTCGTTCCACATCTCTTTGAAATGAATGTATATCGAGAGGGTTAACTGTGCACACGAAGCTCTGAAACATGATGAAAGGTGTCATATAGATTTATGAAGATACGAGCTAACCCATAGCTGTCGCTGTTCTGGCACCAAGAGTTAAATGTTCATGTGAAAGTTGGCGCAGAAAACACC... | benign | 114,191 |
The chromosome 6, position 156778737 genetic variant in gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACACTGACAAACCTACATACGTGTTTAAGGTGCCTTCAAAAAGAGTTATGTAAACATTCTCTTTGGGGCGGGTGCAGTCAGTCATAAGCATTTATTGAGTACCTACTGGGTACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAG... | ACACTGACAAACCTACATACGTGTTTAAGGTGCCTTCAAAAAGAGTTATGTAAACATTCTCTTTGGGGCGGGTGCAGTCAGTCATAAGCATTTATTGAGTACCTACTGGGTACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAG... | benign | 114,206 |
For chromosome 6, position 156778847, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | benign | 114,209 |
The mutation impacting ARID1B (AT-rich interaction domain 1B) on chromosome 6 at position 156778847: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | benign | 114,210 |
Located at chromosome 6 position 156778847, the variant affecting gene ARID1B (AT-rich interaction domain 1B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | benign | 114,211 |
The chromosome 6, position 156778847 genetic variant in gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | benign | 114,212 |
Chromosome 6, position 156778847, gene ARID1B (AT-rich interaction domain 1B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | TACAGGCCATAGGGCTCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACG... | benign | 114,213 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 156778862, gene ARID1B (AT-rich interaction domain 1B): what disease(s) if pathogenic? | benign | TCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGA... | TCTCTGACCGGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGA... | benign | 114,214 |
Is chromosome 6, position 156778871, gene ARID1B (AT-rich interaction domain 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | benign | 114,216 |
Does the variant on chromosome 6 at location 156778871 affecting gene ARID1B (AT-rich interaction domain 1B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | benign | 114,217 |
Is the variant located on chromosome 6 at position 156778871, gene ARID1B (AT-rich interaction domain 1B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | GGGGCTAACCTTCATTTCAAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGC... | benign | 114,218 |
Mutation at chromosome 6, position 156778889, within ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,220 |
The mutation impacting ARID1B (AT-rich interaction domain 1B) on chromosome 6 at position 156778889: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,221 |
Is the genetic mutation found on chromosome 6 at position 156778889, within the gene ARID1B (AT-rich interaction domain 1B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,222 |
Gene mutation in ARID1B (AT-rich interaction domain 1B) at chromosome 6, position 156778889—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,223 |
Assess the variant on chromosome 6, position 156778889, impacting ARID1B (AT-rich interaction domain 1B): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,224 |
Does the variant on chromosome 6 at location 156778889 affecting gene ARID1B (AT-rich interaction domain 1B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,225 |
Regarding the variant at chromosome 6 and position 156778889, affecting gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | AAATCTTTCCTAATTTTGCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGG... | benign | 114,226 |
For chromosome 6, position 156778906, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGC... | GCAGTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGC... | benign | 114,228 |
Gene ARID1B (AT-rich interaction domain 1B) variant at chromosome position 156778909 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGC... | GTTGGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGC... | benign | 114,229 |
Mutation at chromosome 6, position 156778912, within ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGC... | GGAAGAAGTTGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGC... | benign | 114,230 |
Gene mutation in ARID1B (AT-rich interaction domain 1B) at chromosome 6, position 156778921—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGC... | TGTGGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGC... | benign | 114,231 |
Chromosome 6, position 156778924, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGC... | GGGAATTACGCCGATGGCCCGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGC... | benign | 114,232 |
Determine if the mutation at chromosome 6, position 156778943 in gene ARID1B (AT-rich interaction domain 1B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCC... | CGAAATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCC... | benign | 114,233 |
Chromosome 6, position 156778946, gene ARID1B (AT-rich interaction domain 1B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGG... | AATCAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGG... | benign | 114,234 |
Is the genetic mutation found on chromosome 6 at position 156778949, within the gene ARID1B (AT-rich interaction domain 1B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCC... | CAAGGCAGAGGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCC... | benign | 114,235 |
Mutation found at chromosome 6 position 156778958, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | benign | 114,237 |
Variant on chromosome 6, at position 156778958, affecting ARID1B (AT-rich interaction domain 1B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | pathogenic | 114,238 |
Is chromosome 6, position 156778958, gene ARID1B (AT-rich interaction domain 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Coffin-Siris_syndrome_1'] | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | pathogenic | 114,239 |
Gene ARID1B (AT-rich interaction domain 1B) variant at chromosome 6, position 156778958—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | pathogenic | 114,240 |
Is the chromosome 6, position 156778958 variant in ARID1B (AT-rich interaction domain 1B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases'] | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | GGCGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAG... | pathogenic | 114,241 |
Determine whether the variant at chromosome 6, position 156778960, in gene ARID1B (AT-rich interaction domain 1B) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['ARID1B-related_disorder', 'Inborn_genetic_diseases'] | CGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCC... | CGAACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCC... | pathogenic | 114,242 |
Is the genetic mutation found on chromosome 6 at position 156778963, within the gene ARID1B (AT-rich interaction domain 1B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Coffin-Siris_syndrome_1', 'Inborn_genetic_diseases'] | ACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTA... | ACGTTCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTA... | pathogenic | 114,244 |
Gene mutation in ARID1B (AT-rich interaction domain 1B) at chromosome 6, position 156778967—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCC... | TCTGAAAATTACATAACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCC... | benign | 114,246 |
Mutation found at chromosome 6 position 156778982, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTC... | ACTCCTGGGAGAGACCGTGCTTTTGCAGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTC... | benign | 114,248 |
Is the genetic mutation found on chromosome 6 at position 156779008, within the gene ARID1B (AT-rich interaction domain 1B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | AGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGG... | AGATTGCCTAAATATTTTCTTTCTCCGTCGGCTCCTTGTAACCTCTGAGGCCAATAGACAACTTTGTTTCCCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGG... | pathogenic | 114,250 |
Is the variant located on chromosome 6 at position 156779078, gene ARID1B (AT-rich interaction domain 1B), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Neurodevelopmental_abnormality'] | CCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAAT... | CCAGCCCTTCTCCCTCTTTTGTCTGCTCGTCAGACTCGTTTTCCACCTTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAAT... | pathogenic | 114,255 |
Mutation at chromosome 6, position 156779125, within ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Coffin-Siris_syndrome_1'] | TTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGAT... | TTTGTATCGTTCCTTTTAGACGTGAAAACAAACATGCGAACGCCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGAT... | pathogenic | 114,257 |
Evaluate this variant at chromosome 6, position 156779167, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Coffin-Siris_syndrome_1', 'Intellectual_disability'] | CCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGA... | CCCGGTTGGCAAGGAGACAGCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGA... | pathogenic | 114,260 |
Evaluate if the mutation on chromosome 6 at position 156779186 in ARID1B (AT-rich interaction domain 1B) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | GCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCA... | GCGGCCCGGGGGGAAAGTGCAGGTTCCGGCCGCCCCACGCCGCCGCGCTCCGAGCGGCCGCCGAGCCGCCCCGGCCCCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCA... | pathogenic | 114,261 |
Is chromosome 6, position 156779262, gene ARID1B (AT-rich interaction domain 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCC... | CCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCC... | benign | 114,266 |
Regarding the variant at chromosome 6 and position 156779262, affecting gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCC... | CCGGCCCCGGCCCCAGCCTTAGCCCAAGCCCGGCTGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCC... | benign | 114,267 |
Is the chromosome 6, position 156779296 variant in ARID1B (AT-rich interaction domain 1B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGG... | TGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGG... | benign | 114,268 |
Is the genetic change at chromosome 6, position 156779296, within gene ARID1B (AT-rich interaction domain 1B) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGG... | TGGGTCCCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGG... | benign | 114,269 |
Clinical significance of chromosome 6, position 156779302, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ARID1B-related_BAFopathy', 'Coffin-Siris_syndrome_1'] | CCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCG... | CCGCGAGGCTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCG... | pathogenic | 114,271 |
Variant at chromosome position 156779310, chromosome 6, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['ARID1B-related_BAFopathy', 'Coffin-Siris_syndrome_1', 'Inborn_genetic_diseases'] | CTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCG... | CTGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCG... | pathogenic | 114,272 |
Is chromosome 6, position 156779311, gene ARID1B (AT-rich interaction domain 1B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | TGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGG... | TGCGCCGGGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGG... | benign | 114,273 |
Variant chromosome 6, position 156779318, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? Disease(s)? | pathogenic; ['Coffin-Siris_syndrome_1', 'Inborn_genetic_diseases'] | GGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCG... | GGGCGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCG... | pathogenic | 114,274 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 156779321, gene ARID1B (AT-rich interaction domain 1B). What disease(s) is it linked to if pathogenic? | pathogenic; ['Coffin-Siris_syndrome_1'] | CGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGT... | CGGGCGGCGGCGGCCCGGGGACGAGTCCAGTCCGCGTTTTGCGAGTGCGCGGGAGTAATGCGAGCGAAGTGGATAATAGTTGCTCGAGCTCGCCCGCTGCCTCTCAAGCCATGCTGGGCCCGATAGGCTCAGCTAGTCGTGTATTTACCCATATCCGGGCTAGAGAGGAAAAGAGAAAAGTTTCATTTAAACCTGAACTAAAAACTTTCACCATGAAAGCACACAGCAGGAGCAGGCCCAGAGCGTAAGGCGTGCCCGGCCCGGCGCTCCGGCGGGGCCTGCGGAGGGGGAGGGGGTCGCGGCTTCCCGGCGGGCCGCGT... | pathogenic | 114,275 |
Variant chromosome 6, position 156935454, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? Disease(s)? | benign | TGAAATCCATGCTGTTTATGGAAAGGAACCTGCAGGGCACCCAGCGGGAAGTCTGTGTGACAAGTGGAAATCTAGAATCTGGAAGAAACGTGGTGTTTGAGGGGGAAGGTGGTGGGGAGAGTGGTCATAATCTTTCAGCCTTTGCTTTTGTGCCCCACAAGCTTAATTGTCACCCTCTGCTGGCAACCAGATTGCAGAGCCACTCTGTAAGTGTCCTTGGATTGCCTGTGCTTACTCTCACCTTATTGTTATCAAATAAAAACCTAGACAAATAGCATTGAATTCTCTTAGAAAAATATGATATGAACTGGGTACATTAC... | TGAAATCCATGCTGTTTATGGAAAGGAACCTGCAGGGCACCCAGCGGGAAGTCTGTGTGACAAGTGGAAATCTAGAATCTGGAAGAAACGTGGTGTTTGAGGGGGAAGGTGGTGGGGAGAGTGGTCATAATCTTTCAGCCTTTGCTTTTGTGCCCCACAAGCTTAATTGTCACCCTCTGCTGGCAACCAGATTGCAGAGCCACTCTGTAAGTGTCCTTGGATTGCCTGTGCTTACTCTCACCTTATTGTTATCAAATAAAAACCTAGACAAATAGCATTGAATTCTCTTAGAAAAATATGATATGAACTGGGTACATTAC... | benign | 114,303 |
Does the variant impacting ARID1B (AT-rich interaction domain 1B) on chromosome 6, position 157084819, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Coffin-Siris_syndrome_1'] | TTGCTGTTCTGTTGTTTCCCATAAGCACAGTCATTGGACATTGAAGATTTTGTGGAATGAAGACGTTTTCTGTTTTACTTAGAAAGATATTCTTCTTAGCAGAAGACATTTTGTTTTTCTATAGCATTTCTCTTTTTGATTAGGTTCTGTCAGGTATACTTTAGAATATGATTTTTAAAGAGAAGTTAATTATATGCTATAACAGATGCTTACCAGATAAACTAAACTATCCAGGGTACTAGGATCCTAATCCTGAGTTTGCTTTGTGACGTTTCAGGAAACCCTGAAGAGCTATAACCAGCTCTGATTTCCCTTGCTTT... | TTGCTGTTCTGTTGTTTCCCATAAGCACAGTCATTGGACATTGAAGATTTTGTGGAATGAAGACGTTTTCTGTTTTACTTAGAAAGATATTCTTCTTAGCAGAAGACATTTTGTTTTTCTATAGCATTTCTCTTTTTGATTAGGTTCTGTCAGGTATACTTTAGAATATGATTTTTAAAGAGAAGTTAATTATATGCTATAACAGATGCTTACCAGATAAACTAAACTATCCAGGGTACTAGGATCCTAATCCTGAGTTTGCTTTGTGACGTTTCAGGAAACCCTGAAGAGCTATAACCAGCTCTGATTTCCCTTGCTTT... | pathogenic | 114,315 |
Clinically, how would you classify the variant at chromosome 6, position 157133045, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Coffin-Siris_syndrome_1'] | GTATTTCACAGCTCCATCTATGAACTCGCTTCCATTTGCCTGGACTCCTGAGAGTGGAGGTACCTGGCCTTCCAGTGATGCATAAAGATGTGTTTTCTTTATCCATTTGAATCATCTACCCACCAAGCACCTATGTGTCGTACTCAGCACTCTGTTGGCCGCATGAAGAATTTAACATCCATTCATTTTTTTAAAAAGCAATAGTTTTGTTAACCACCACGTCCCACACGCTCTGCTAGGCACCAAGGATAGTGAACCCAGGTGTGATTCTTGCCCTCATGGAGCTAATGTTTTAGTGGGGAAGAGAGATGATAAGTGAG... | GTATTTCACAGCTCCATCTATGAACTCGCTTCCATTTGCCTGGACTCCTGAGAGTGGAGGTACCTGGCCTTCCAGTGATGCATAAAGATGTGTTTTCTTTATCCATTTGAATCATCTACCCACCAAGCACCTATGTGTCGTACTCAGCACTCTGTTGGCCGCATGAAGAATTTAACATCCATTCATTTTTTTAAAAAGCAATAGTTTTGTTAACCACCACGTCCCACACGCTCTGCTAGGCACCAAGGATAGTGAACCCAGGTGTGATTCTTGCCCTCATGGAGCTAATGTTTTAGTGGGGAAGAGAGATGATAAGTGAG... | pathogenic | 114,323 |
Classify the chromosome 6 variant at position 157133174 affecting gene ARID1B (AT-rich interaction domain 1B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['ARID1B-related_BAFopathy'] | CCTATGTGTCGTACTCAGCACTCTGTTGGCCGCATGAAGAATTTAACATCCATTCATTTTTTTAAAAAGCAATAGTTTTGTTAACCACCACGTCCCACACGCTCTGCTAGGCACCAAGGATAGTGAACCCAGGTGTGATTCTTGCCCTCATGGAGCTAATGTTTTAGTGGGGAAGAGAGATGATAAGTGAGTCAAAATAAAATAAAGTGATTACCAGTGATTATGAAAAGTGCTATGAAGGAAGGTGAGTGGGAAAGGGCAAGGGTTGGTGTGACCTCTGATCAGGTGTCGAGGGAGGGCTGAGGGATGAGAAGGACCCA... | CCTATGTGTCGTACTCAGCACTCTGTTGGCCGCATGAAGAATTTAACATCCATTCATTTTTTTAAAAAGCAATAGTTTTGTTAACCACCACGTCCCACACGCTCTGCTAGGCACCAAGGATAGTGAACCCAGGTGTGATTCTTGCCCTCATGGAGCTAATGTTTTAGTGGGGAAGAGAGATGATAAGTGAGTCAAAATAAAATAAAGTGATTACCAGTGATTATGAAAAGTGCTATGAAGGAAGGTGAGTGGGAAAGGGCAAGGGTTGGTGTGACCTCTGATCAGGTGTCGAGGGAGGGCTGAGGGATGAGAAGGACCCA... | pathogenic | 114,329 |
Variant chromosome 6, position 157181154, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? Disease(s)? | pathogenic; ['Coffin-Siris_syndrome_1'] | TTCTTCATGTTCTTATTTCAATTTTTCACTTTTGAAAACGTTGGACCCATTTTTTTAAGTGTAACTCCCCAAAGAAGAAAAAAACTCTATACTAAAATTTAGAAACCTCCTAATAATAACTGTCCCGTTAATAAAAAAGAAAACTCCATACTAAAATTTAGGAACCTGTTTTTAATAACTGTCCCATTAATGACGGCAGAGCTTCTGAGGTGCTGCCCGGATGAGAGTCTTGTGTAAAGTGTGTTAGAGCAGCCTCTTTTCCTAGTCAAGTAGGCCTTGGGTACAAGGATATGAAAAATAAGCTTTAAAAATTTATTTGG... | TTCTTCATGTTCTTATTTCAATTTTTCACTTTTGAAAACGTTGGACCCATTTTTTTAAGTGTAACTCCCCAAAGAAGAAAAAAACTCTATACTAAAATTTAGAAACCTCCTAATAATAACTGTCCCGTTAATAAAAAAGAAAACTCCATACTAAAATTTAGGAACCTGTTTTTAATAACTGTCCCATTAATGACGGCAGAGCTTCTGAGGTGCTGCCCGGATGAGAGTCTTGTGTAAAGTGTGTTAGAGCAGCCTCTTTTCCTAGTCAAGTAGGCCTTGGGTACAAGGATATGAAAAATAAGCTTTAAAAATTTATTTGG... | pathogenic | 114,367 |
Regarding the variant at chromosome 6 and position 157184431, affecting gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['ARID1B-related_BAFopathy', 'Coffin-Siris_syndrome_1'] | GCTATGCATTAGAATGGCCTGGGCAGCTTTTCAAAGCTGTCAGTACCTGGGCTACCACCCGACATCAATGAAATGAAACCTTCTGTGCCCAAGGTAATCTAACAGGCAGTCAGAATCAGGCGCCCTGCGCCCCACCAAGGTGGCGGGGGTCACTAACTATCCAAGGGCAAGTCATCTGCCCTGCAGGTGTCACTGACGGCCTACCGTGGTCTCAGTGCTGCGTCTCGGGGGAGAAAGGGGAGGCCTTCTTTGTGCTTAGCCTTCCCACTAGGTGCCTAATCCATTCCATGGGGGAACTGAGACCTGTGACAGAAAGAATT... | GCTATGCATTAGAATGGCCTGGGCAGCTTTTCAAAGCTGTCAGTACCTGGGCTACCACCCGACATCAATGAAATGAAACCTTCTGTGCCCAAGGTAATCTAACAGGCAGTCAGAATCAGGCGCCCTGCGCCCCACCAAGGTGGCGGGGGTCACTAACTATCCAAGGGCAAGTCATCTGCCCTGCAGGTGTCACTGACGGCCTACCGTGGTCTCAGTGCTGCGTCTCGGGGGAGAAAGGGGAGGCCTTCTTTGTGCTTAGCCTTCCCACTAGGTGCCTAATCCATTCCATGGGGGAACTGAGACCTGTGACAGAAAGAATT... | pathogenic | 114,376 |
A genetic variant at chromosome 6, position 157189671, affecting gene ARID1B (AT-rich interaction domain 1B)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['ARID1B-related_BAFopathy', 'Coffin-Siris_syndrome_1', 'Inborn_genetic_diseases'] | ACCTTTCCATTGTTTACTTTAGAGTATACATTTGTAGCTTCTGGCAAAAGGTAGGGATGTCCTAGAGAGCCTGCCAGCCTCCTCTATTAATGGAGTTACAAGAGGTTGCATTCATTTTTTTTTTTTCCATGAAAGGAAAGGAAAAAAAAAACACTGGCAAGGGAGATTTTTCCTTTTTTTTTTTATTAGCTATAAATGTGAATACTTGTAAATAAGGGTCTTTCTGAAATCAAGCCTTGCAAGTGATGTTTCCAAGGAGGCTGTCGGCTGGAGCGGAGCCTGCCTGAATTTCGAAAGCAAGTCATTTCTCTTCTGCAGCA... | ACCTTTCCATTGTTTACTTTAGAGTATACATTTGTAGCTTCTGGCAAAAGGTAGGGATGTCCTAGAGAGCCTGCCAGCCTCCTCTATTAATGGAGTTACAAGAGGTTGCATTCATTTTTTTTTTTTCCATGAAAGGAAAGGAAAAAAAAAACACTGGCAAGGGAGATTTTTCCTTTTTTTTTTTATTAGCTATAAATGTGAATACTTGTAAATAAGGGTCTTTCTGAAATCAAGCCTTGCAAGTGATGTTTCCAAGGAGGCTGTCGGCTGGAGCGGAGCCTGCCTGAATTTCGAAAGCAAGTCATTTCTCTTCTGCAGCA... | pathogenic | 114,380 |
Determine if the mutation at chromosome 6, position 157190126 in gene ARID1B (AT-rich interaction domain 1B) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Coffin-Siris_syndrome_1'] | AATACATTTTTCTTTTAAAATACCTACAATAAGTGTCAATCTTCTCTGTATAACAAACCCCCATGACATGCGTTTACCTATGTAACAAACCTGCACATCCTGCACATGTACCCCTCAACTTAAAGTTTAAAAAAAAAAAAGTAAATAAAAACTTTTTTAAAAAAGTCAGTCTTTGTGGCATCTCTGAGAACTTCTCTAAGTCATTCAGTGCAGGGCTCACAGGGACGGATGTTACGCAGTGTTCAGCTCTGTTGGCCAGCGTTCATTCCAACCCAGGCCAGAGGCTGGGCAGACCTCATCTGGCTAGGAATGTCTCTGTC... | AATACATTTTTCTTTTAAAATACCTACAATAAGTGTCAATCTTCTCTGTATAACAAACCCCCATGACATGCGTTTACCTATGTAACAAACCTGCACATCCTGCACATGTACCCCTCAACTTAAAGTTTAAAAAAAAAAAAGTAAATAAAAACTTTTTTAAAAAAGTCAGTCTTTGTGGCATCTCTGAGAACTTCTCTAAGTCATTCAGTGCAGGGCTCACAGGGACGGATGTTACGCAGTGTTCAGCTCTGTTGGCCAGCGTTCATTCCAACCCAGGCCAGAGGCTGGGCAGACCTCATCTGGCTAGGAATGTCTCTGTC... | pathogenic | 114,388 |
Evaluate this variant at chromosome 6, position 157200737, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | GTGCGCAGTAAAAGCCACACAGAGCTGCTTGAGGGAGTCAGGGTTCCAGAAATGGATTGTTTATTTCTCTGTTTGCCTGAAGCTTTTTCTCAGTTAAGTTTTCTTTGAATGCCTCATTCCAGGCATGAACCTTATGGGCAGCAGTATCCAGGCCAAGGCCCTCCCTCGGGACAGCCGCCGTATGGAGGGCACCAGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGGGGTGCTGTGTTTTCTGGTTCTGTCCTGGAGGCTAAAACTCAAACTTGTCTTACTTCTGAAGATTTTCAGACATCTAACA... | GTGCGCAGTAAAAGCCACACAGAGCTGCTTGAGGGAGTCAGGGTTCCAGAAATGGATTGTTTATTTCTCTGTTTGCCTGAAGCTTTTTCTCAGTTAAGTTTTCTTTGAATGCCTCATTCCAGGCATGAACCTTATGGGCAGCAGTATCCAGGCCAAGGCCCTCCCTCGGGACAGCCGCCGTATGGAGGGCACCAGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGGGGTGCTGTGTTTTCTGGTTCTGTCCTGGAGGCTAAAACTCAAACTTGTCTTACTTCTGAAGATTTTCAGACATCTAACA... | pathogenic | 114,410 |
Is the genetic change at chromosome 6, position 157200866, within gene ARID1B (AT-rich interaction domain 1B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Absent_speech', 'Blepharophimosis', 'Coffin-Siris_syndrome_1', 'Intellectual_disability,_moderate', 'Long_eyelashes', 'Thick_lower_lip_vermilion', 'Thin_upper_lip_vermilion'] | CCTTATGGGCAGCAGTATCCAGGCCAAGGCCCTCCCTCGGGACAGCCGCCGTATGGAGGGCACCAGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGGGGTGCTGTGTTTTCTGGTTCTGTCCTGGAGGCTAAAACTCAAACTTGTCTTACTTCTGAAGATTTTCAGACATCTAACAAAAATGATTAGTGTTTGTTGAGCATTCAGGATATAGTTAATGCTAGAAAGTACTCCTGGGATGTTGAAGTCAGCAAATTAAAAATAACTCTTGATACACGGTTTCTTGAAACACATATGACCTGTAATA... | CCTTATGGGCAGCAGTATCCAGGCCAAGGCCCTCCCTCGGGACAGCCGCCGTATGGAGGGCACCAGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGGGGTGCTGTGTTTTCTGGTTCTGTCCTGGAGGCTAAAACTCAAACTTGTCTTACTTCTGAAGATTTTCAGACATCTAACAAAAATGATTAGTGTTTGTTGAGCATTCAGGATATAGTTAATGCTAGAAAGTACTCCTGGGATGTTGAAGTCAGCAAATTAAAAATAACTCTTGATACACGGTTTCTTGAAACACATATGACCTGTAATA... | pathogenic | 114,416 |
Mutation at chromosome 6, position 157201055, within ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CAAAAATGATTAGTGTTTGTTGAGCATTCAGGATATAGTTAATGCTAGAAAGTACTCCTGGGATGTTGAAGTCAGCAAATTAAAAATAACTCTTGATACACGGTTTCTTGAAACACATATGACCTGTAATAAGAAGTTGAGTGTATTCATCCTTGTAAATAATAACAAGCCCAAGCTAGAATTAGTATATTTTAAACATGTATCTATTGTGCATACTGTTGTATCAGAAGCCATTTTAGAACAGAAATTTGTCAATGCTTTAAGGAGAATGTGTAGAAAAGCAACTTAAAATATTGTATACTAATAGTGAAAGTGAATTG... | CAAAAATGATTAGTGTTTGTTGAGCATTCAGGATATAGTTAATGCTAGAAAGTACTCCTGGGATGTTGAAGTCAGCAAATTAAAAATAACTCTTGATACACGGTTTCTTGAAACACATATGACCTGTAATAAGAAGTTGAGTGTATTCATCCTTGTAAATAATAACAAGCCCAAGCTAGAATTAGTATATTTTAAACATGTATCTATTGTGCATACTGTTGTATCAGAAGCCATTTTAGAACAGAAATTTGTCAATGCTTTAAGGAGAATGTGTAGAAAAGCAACTTAAAATATTGTATACTAATAGTGAAAGTGAATTG... | pathogenic | 114,430 |
Evaluate this variant at chromosome 6, position 157206358, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGAAATCAAAATGTAACATTAAGTTGTGACTGGAGTCAGCATTGGAAACACAGTTGGTTGCAATGGGACATAACCCTGCTTTCCAGGAGGACTTGACATCTTCTTTTCATTAAAAAGATATTCAAGATTTAGAAATTTTATATTCTATACATTTATAGAATGTATAAATATATATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAG... | AGAAATCAAAATGTAACATTAAGTTGTGACTGGAGTCAGCATTGGAAACACAGTTGGTTGCAATGGGACATAACCCTGCTTTCCAGGAGGACTTGACATCTTCTTTTCATTAAAAAGATATTCAAGATTTAGAAATTTTATATTCTATACATTTATAGAATGTATAAATATATATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAG... | benign | 114,458 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 157206405, gene ARID1B (AT-rich interaction domain 1B): what disease(s) if pathogenic? | pathogenic; ['Coffin-Siris_syndrome_1', 'Marfanoid_habitus_and_intellectual_disability', 'Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency'] | ACACAGTTGGTTGCAATGGGACATAACCCTGCTTTCCAGGAGGACTTGACATCTTCTTTTCATTAAAAAGATATTCAAGATTTAGAAATTTTATATTCTATACATTTATAGAATGTATAAATATATATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGG... | ACACAGTTGGTTGCAATGGGACATAACCCTGCTTTCCAGGAGGACTTGACATCTTCTTTTCATTAAAAAGATATTCAAGATTTAGAAATTTTATATTCTATACATTTATAGAATGTATAAATATATATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGG... | pathogenic | 114,461 |
Variant at chromosome 6, position 157206530, gene ARID1B (AT-rich interaction domain 1B): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Coffin-Siris_syndrome_1'] | TATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCAT... | TATAGAAGGAGAGAGAGCAGTTTAATGAACCCCCATGTACCTGTCAGTCAGCTAAAATAGTTATGAACTCATGGCTAAACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCAT... | pathogenic | 114,470 |
Clinically, how would you classify the variant at chromosome 6, position 157206607, gene ARID1B (AT-rich interaction domain 1B): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Coffin-Siris_syndrome', 'Neurodevelopmental_delay'] | AACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAA... | AACTTACTTCTTAGTCTATGCTCTCTCATTTCTGCCTCTCTCCAGGTTATTTTGAAGCAGTCATGTAAAAGCCTACTACTTTTAATGAGCTTAAACCCCTCCTTTGTTCAGAGGTAGGCTTCAGGTAGCTTCCAGCATAATAGCTAGAAGAGAGGAGCACTGAAGTTTGGGGAAAATGCCCGAGTCCACTGGGCTATAGACTTTTAAAGAAATATTTAGAAATAAAAAATGGAAAAAGGTCATTTTCCCTATAGTATACAAACAACTCTCTACTTTGAGTGCAAAAACTAAAACACTTAATTTCCTTGCTTCTAAGGAAA... | pathogenic | 114,474 |
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