| | MDH1, WDPCP (K66R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | MDH1, WDPCP (N324T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (I183T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (E174Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MDH1, WDPCP (A70T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | MDH1, WDPCP (E329K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | MDH1, WDPCP (A144T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (S23G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | MDH1, WDPCP (D283H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (T339I +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (A114T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (D167N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | MDH1, WDPCP (M180V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MDH1, WDPCP (A138V +2 more) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 88 | |