| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | PITX1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MACROH2A1, PITX1-AS1 (V336M +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MACROH2A1, PITX1-AS1 (K329R +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126807518, MACROH2A1
+1 more (L285P +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126807518, MACROH2A1
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
Click to view in NCBI Gene