"Ambry Genetics"[submitter] AND "UFSP2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2389732	NM_181726.4(ANKRD37):c.289G>A (p.Gly97Arg)	ANKRD37, UFSP2 (G97R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523961	NM_181726.4(ANKRD37):c.314G>C (p.Trp105Ser)	UFSP2, ANKRD37 (W105S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328497	NM_181726.4(ANKRD37):c.364A>G (p.Met122Val)	ANKRD37, UFSP2 (M122V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2272848	NM_181726.4(ANKRD37):c.415G>A (p.Val139Met)	UFSP2, ANKRD37 (V139M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230707	NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)	UFSP2, ANKRD37 (K447T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268090	NM_018359.5(UFSP2):c.1181G>A (p.Gly394Glu)	UFSP2 (G394E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600409	NM_018359.5(UFSP2):c.1150C>T (p.Arg384Trp)	UFSP2 (R384W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280991	NM_018359.5(UFSP2):c.914G>A (p.Arg305Gln)	UFSP2 (R305Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329200	NM_018359.5(UFSP2):c.857G>C (p.Gly286Ala)	UFSP2 (G286A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372856	NM_018359.5(UFSP2):c.827G>A (p.Gly276Asp)	UFSP2, C4orf47 (G276D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378083	NM_018359.5(UFSP2):c.746A>G (p.Tyr249Cys)	C4orf47, UFSP2 (Y249C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476895	NM_018359.5(UFSP2):c.695A>T (p.Asp232Val)	UFSP2, C4orf47 (D232V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478944	NM_018359.5(UFSP2):c.382G>A (p.Ala128Thr)	C4orf47, UFSP2 (A128T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340974	NM_018359.5(UFSP2):c.311A>G (p.Lys104Arg)	UFSP2, C4orf47 (K104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527540	NM_018359.5(UFSP2):c.130A>G (p.Thr44Ala)	CFAP96, UFSP2 (T44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287563	NM_018359.5(UFSP2):c.20T>C (p.Met7Thr)	UFSP2, C4orf47 (M7T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance