| | ARID1B, LOC115308161
+1 more (S15G +1 more) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +2 more | |
| | ARID1B, LOC115308161
+1 more (A141T +1 more) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_indel +2 more) | not provided +1 more | |
| | | Microsatellite (non-coding transcript variant +2 more) | Coffin-Siris syndrome 1 | |
| | ARID1B, LOC115308161 (Q205fs) | Insertion (non-coding transcript variant +1 more) | Coffin-Siris syndrome 1 | |
| | ARID1B, LOC115308161 (N138S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Coffin-Siris syndrome 1 | |
| | ARID1B, LOC115308161
+1 more (D114E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Coffin-Siris syndrome 1 | |
| | LOC115308161, LOC129997525
+1 more (D114E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ARID1B, LOC129997525 (A290D) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC129997525 (P170L +2 more) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (inframe_indel +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_indel +1 more) | Coffin-Siris syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Duplication (frameshift variant) | ARID1B-related BAFopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +1 more | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Coffin-Siris syndrome 1 | |