| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CCDC174, LOC126806614 (P438R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC174, LOC126806614 (P421S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
| | CCDC174, LOC126806614 (D367N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC174, LOC126806614 (S336N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CCDC174, LOC126806614 (V466M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CCDC174, LOC126806614 (T436M) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (stop lost +1 more) | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | |
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