| | | Deletion (intron variant) | TRPM3-related condition | |
| | | Single nucleotide variant (intron variant +1 more) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (E1318Q +9 more) | Single nucleotide variant (missense variant +1 more) | TRPM3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRPM3-related condition | |
| | | Single nucleotide variant (synonymous variant) | TRPM3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (D1095E +12 more) | Single nucleotide variant (missense variant) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (N1455I +9 more) | Single nucleotide variant (missense variant +1 more) | TRPM3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (G1373R +9 more) | Single nucleotide variant (missense variant +1 more) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (T1465I +9 more) | Single nucleotide variant (missense variant +1 more) | TRPM3-related condition | |
| | | Single nucleotide variant (intron variant) | TRPM3-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | TRPM3-related condition | |
| | KLF9-DT, TRPM3 (E1180D +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | KLF9-DT, TRPM3 (R1112Q +12 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KLF9-DT, TRPM3 (R1294L +9 more) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (A1482V +9 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | KLF9-DT, TRPM3 (E1178* +17 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | KLF9-DT, TRPM3 (S1192T +9 more) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (R1513W +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (T1533I +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | KLF9-DT, TRPM3 (F1160S +12 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (I1459V +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (N1483S +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (I1456T +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (K1204N +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (C1387Y +9 more) | Single nucleotide variant (missense variant +1 more) | Developmental disorder | |
| | KLF9-DT, TRPM3 (R1232K +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TRPM3, KLF9-DT (R1501Q +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRPM3, KLF9-DT (T1294K +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (V1111M +12 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (I1391V +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (I1261T +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRPM3, KLF9-DT (P1312L +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRPM3, KLF9-DT (K1224N +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TRPM3, KLF9-DT (T1280I +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (V1258M +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | KLF9-DT, TRPM3 (A1101V +12 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KLF9-DT, TRPM3 (M1206I +9 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | TRPM3, KLF9-DT (E1246Q +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (A1221D +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (W1323S +9 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | TRPM3-associated epilepsy syndrome | |
| | KLF9-DT, TRPM3 (S1235W +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (R1521Q +9 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | MIR204-related condition +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (S1303R +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (N1463S +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | TRPM3-related Intellectual Disability and Epilepsy | |
| | KLF9-DT, TRPM3 (S1494R +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (H1029Y +12 more) | Single nucleotide variant (missense variant) | not provided | |
| | KLF9-DT, TRPM3 (N1371S +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (R1507Q +9 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KLF9-DT, TRPM3 (G1185S +9 more) | Single nucleotide variant (intron variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Duplication (intron variant) | Normal pregnancy | |