ClinVar for MedGen (Select 1646454) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684236	NM_018359.5(UFSP2):c.-33C>T	CFAP96, UFSP2	Single nucleotide variant (5 prime UTR variant +1 more)	Hip dysplasia, Beukes type +1 more	GBenign
Select item 1684235	NM_018359.5(UFSP2):c.333+11T>C	CFAP96, UFSP2	Single nucleotide variant (intron variant)	Hip dysplasia, Beukes type +1 more	GBenign
Select item 1098423	NM_018359.5(UFSP2):c.905G>C (p.Cys302Ser)	UFSP2 (C302S)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type	GPathogenic
Select item 916581	NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)	UFSP2 (H428R)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type	GLikely pathogenic
Select item 780512	NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser)	UFSP2 (C311S)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type +2 more	GBenign/Likely benign
Select item 437868	NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala)	UFSP2 (D426A)	Single nucleotide variant (missense variant +1 more)	Hip dysplasia, Beukes type +1 more	GPathogenic

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