| | | Translocation | not provided | |
| | LOC129997469, LOC129997470 +1002 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997480, LOC129997522 +288 more | Deletion | Chromosome 6q24-q25 deletion syndrome | |
| | LOC115308161, LOC116183076 +288 more | Copy number loss | See cases | |
| | | Copy number loss | Coffin-Siris syndrome 1 | |
| | | Copy number gain | See cases | |
| | LOC129997593, LOC129997594 +563 more | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | TMEM242, TMEM242-DT +188 more | Copy number loss | See cases | |
| | LOC126859906, LOC126859907 +539 more | Copy number loss | See cases | |
| | LOC126859863, LOC126859864 +270 more | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +24 more | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +41 more | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +58 more | Copy number gain | See cases | |
| | ARID1B, LOC105378073 +55 more | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +58 more | Copy number loss | See cases | |
| | ARID1B, LOC115308161 +1 more | Microsatellite (inframe_insertion) | not provided | |
| | ARID1B, LOC115308161 +1 more | Microsatellite (inframe_insertion) | not provided | |
| | ARID1B, LOC115308161 +1 more | Microsatellite (inframe_insertion) | not provided | |
| | ARID1B, LOC115308161 +1 more | Microsatellite (inframe_deletion) | not provided | |
| | ARID1B, LOC115308161 +1 more (A14del) | Microsatellite (inframe_deletion) | Coffin-Siris syndrome 1 | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | ARID1B, LOC115308161 +1 more (G67S) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (S70R) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (N83D) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC115308161, LOC129997523 +1 more (A85S) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | ARID1B, LOC115308161 +1 more (H3Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (H3Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more | Duplication (inframe_insertion) | not specified +2 more | |
| | ARID1B, LOC115308161 +1 more (G6D +1 more) | Single nucleotide variant (missense variant) | ARID1B-related BAFopathy | |
| | ARID1B, LOC115308161 +1 more (A7G +1 more) | Single nucleotide variant (missense variant) | ARID1B-related condition | |
| | ARID1B, LOC115308161 +1 more (A7V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC115308161, ARID1B +1 more (A8P +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more (A92T) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (A92V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (A92G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ARID1B, LOC115308161 +1 more (G12S +1 more) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more (S15G +1 more) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 +2 more | |
| | ARID1B, LOC115308161 +1 more (A16T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (K100N) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (S101R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129997523, ARID1B +1 more (G19R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (S21C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | ARID1B, LOC115308161 +1 more (E105K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (E105fs) | Deletion (frameshift variant) | not provided | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129997523, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | ARID1B-related condition +4 more | |
| | ARID1B, LOC115308161 +1 more (K109del +1 more) | Deletion (inframe_deletion +1 more) | not provided | |
| | ARID1B, LOC115308161 +1 more (K26Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more (E110D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A115G) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A33T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A116V) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 (L117P) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | ARID1B-related condition +3 more | |
| | | Microsatellite (inframe_indel +1 more) | not provided | |
| | ARID1B, LOC115308161 (S124del) | Microsatellite (inframe_deletion) | ARID1B-related condition +3 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 (S118F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ARID1B-related condition | |
| | ARID1B, LOC115308161 (S122F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (S40F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (S123C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | ARID1B, LOC115308161 (S41F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +1 more | |
| | ARID1B, LOC115308161 (A125G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | ARID1B, LOC115308161 (A128T) | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 (A47S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A47V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (S132F +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ARID1B, LOC115308161 (S136del +1 more) | Microsatellite (inframe_indel +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (S135A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (S136L) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (G137A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ARID1B, LOC115308161 +1 more (G139D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | ARID1B, LOC115308161 +1 more (S140L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (A141T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more (E143Q +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (E143G) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (N66S +1 more) | Single nucleotide variant (missense variant) | ARID1B-related condition +4 more | GConflicting classifications of pathogenicity |
| | ARID1B, LOC115308161 +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | ARID1B, LOC115308161 +1 more (T71I +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A161T) | Single nucleotide variant (missense variant) | not provided | |
| | ARID1B, LOC115308161 (A161V) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |