C1855188[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255435	NM_005869.4(CWC27):c.-31G>A	CWC27, LOC123493324	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1255436	NM_005869.4(CWC27):c.600-21del	CWC27	Deletion (intron variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GBenign
Select item 1170222	NM_005869.4(CWC27):c.749+16G>T	CWC27	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167008	NM_005869.4(CWC27):c.766C>G (p.Pro256Ala)	CWC27 (P256A)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 1170117	NM_005869.4(CWC27):c.1108T>C (p.Leu370=)	CWC27	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1170118	NM_005869.4(CWC27):c.1209G>A (p.Thr403=)	CWC27	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign

ClinVar