ClinVar for MedGen (Select 333593) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065681	NM_018359.5(UFSP2):c.1333G>A (p.Gly445Arg)	ANKRD37, UFSP2 (G445R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1684236	NM_018359.5(UFSP2):c.-33C>T	CFAP96, UFSP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1684235	NM_018359.5(UFSP2):c.333+11T>C	CFAP96, UFSP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 780512	NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser)	UFSP2 (C311S)	Single nucleotide variant (missense variant +1 more)	Hip dysplasia, Beukes 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)	Spondyloepimetaphyseal dysplasia, di rocco type +1 more	GPathogenic
Select item 204613	NM_018359.5(UFSP2):c.868T>C (p.Tyr290His)	UFSP2 (Y290H)	Single nucleotide variant (missense variant +1 more)	Hip dysplasia, Beukes type	GPathogenic

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