| | | Copy number gain | See cases | |
| | LOC111501769, LOC112590812 +339 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DEPDC1, DEPDC1-AS1 +270 more | Copy number loss | See cases | |
| | LOC122094841, LOC122094842 +253 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | ANKRD13C, ANKRD13C-DT +80 more | Copy number loss | See cases | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | WLS, GNG12-AS1 (R445C +1 more) | Single nucleotide variant (missense variant +1 more) | WLS syndrome | |
| | GNG12-AS1, WLS (I440T +1 more) | Single nucleotide variant (missense variant +1 more) | WLS syndrome | |
| | GNG12-AS1, WLS (N414S +2 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | GNG12-AS1, WLS (E501Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (Y499C +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (M398I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (Y482H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (Y387C +2 more) | Single nucleotide variant (missense variant) | WLS syndrome | |
| | GNG12-AS1, WLS (A381S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (T365M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | WLS-related disorder | |
| | GNG12-AS1, WLS (V452I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (K342R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (R403Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (R403W +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (Y301C +2 more) | Single nucleotide variant (missense variant) | WLS syndrome | |
| | GNG12-AS1, WLS (C390G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (C386S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (V382M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (E319K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (F216L +2 more) | Single nucleotide variant (missense variant) | Zaki syndrome | |
| | GNG12-AS1, WLS (I304V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (K266Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (T151M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (F149L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (W143C +2 more) | Single nucleotide variant (missense variant) | Zaki syndrome | |
| | GNG12-AS1, WLS (R129Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (P200L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (R109W +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (H192Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (H192Y +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (M185T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (P79S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | WLS-related disorder | |
| | GNG12-AS1, WLS (M60I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (E145K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Zaki syndrome | |
| | GNG12-AS1, WLS (A142T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (D133Y +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | GNG12-AS1, WLS (M43T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GNG12-AS1, WLS (I83T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GNG12-AS1, WLS (D74G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (nonsense +1 more) | WLS-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | GNG12-AS1, WLS (R52H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GNG12-AS1, WLS (T41M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, severe | |
| | | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Zaki syndrome | |