ClinVar for MedGen (Select 381579) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576223	NM_005869.4(CWC27):c.669+1G>A	CWC27	Single nucleotide variant (splice donor variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GPathogenic
Select item 1693112	NM_005869.4(CWC27):c.397-1G>A	CWC27	Single nucleotide variant (splice acceptor variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GLikely pathogenic
Select item 1687405	NM_005869.4(CWC27):c.427C>T (p.Arg143Ter)	CWC27 (R143*)	Single nucleotide variant (nonsense)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +1 more	GPathogenic
Select item 1255436	NM_005869.4(CWC27):c.600-21del	CWC27	Deletion (intron variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GBenign
Select item 1255435	NM_005869.4(CWC27):c.-31G>A	CWC27, LOC123493324	Single nucleotide variant (5 prime UTR variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GBenign
Select item 1172712	NM_005869.4(CWC27):c.1066_1070del (p.Ala356fs)	CWC27 (A356fs)	Deletion (frameshift variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +1 more	GPathogenic
Select item 1170222	NM_005869.4(CWC27):c.749+16G>T	CWC27	Single nucleotide variant (intron variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 1170118	NM_005869.4(CWC27):c.1209G>A (p.Thr403=)	CWC27	Single nucleotide variant (synonymous variant +1 more)	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)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 1167008	NM_005869.4(CWC27):c.766C>G (p.Pro256Ala)	CWC27 (P256A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 426074	NM_005869.4(CWC27):c.617C>A (p.Ser206Ter)	CWC27 (S206*)	Single nucleotide variant (nonsense)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GPathogenic
Select item 426073	NM_005869.4(CWC27):c.1002dup (p.Val335fs)	CWC27 (V335fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 426072	NM_005869.4(CWC27):c.943G>T (p.Glu315Ter)	CWC27 (E315*)	Single nucleotide variant (nonsense)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GPathogenic
Select item 426071	NM_005869.4(CWC27):c.495G>A (p.Glu165=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GPathogenic