"Ambry Genetics"[submitter] AND "RPUSD2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2309498	NM_152260.3(RPUSD2):c.20G>A (p.Gly7Glu)	LOC130056859, RPUSD2 (G7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534088	NM_152260.3(RPUSD2):c.23G>T (p.Trp8Leu)	LOC130056859, RPUSD2 (W8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315371	NM_152260.3(RPUSD2):c.162G>C (p.Gln54His)	LOC130056859, RPUSD2 (Q54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324821	NM_152260.3(RPUSD2):c.175G>C (p.Ala59Pro)	LOC130056859, RPUSD2 (A59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156342	NM_152260.3(RPUSD2):c.185A>C (p.Asp62Ala)	LOC130056859, RPUSD2 (D62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484784	NM_152260.3(RPUSD2):c.265C>T (p.Pro89Ser)	RPUSD2 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156343	NM_152260.3(RPUSD2):c.286C>T (p.Pro96Ser)	RPUSD2 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378835	NM_152260.3(RPUSD2):c.287C>T (p.Pro96Leu)	RPUSD2 (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156344	NM_152260.3(RPUSD2):c.302A>T (p.Lys101Met)	RPUSD2 (K101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316649	NM_152260.3(RPUSD2):c.304C>T (p.Arg102Trp)	RPUSD2 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156345	NM_152260.3(RPUSD2):c.337C>T (p.Pro113Ser)	RPUSD2 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156346	NM_152260.3(RPUSD2):c.358G>A (p.Gly120Arg)	RPUSD2 (G120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256926	NM_152260.3(RPUSD2):c.383T>G (p.Phe128Cys)	RPUSD2 (F128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156347	NM_152260.3(RPUSD2):c.467G>T (p.Arg156Leu)	RPUSD2 (R156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315373	NM_152260.3(RPUSD2):c.550G>A (p.Ala184Thr)	RPUSD2 (A184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156348	NM_152260.3(RPUSD2):c.671G>A (p.Arg224His)	RPUSD2 (R163H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623406	NM_152260.3(RPUSD2):c.716C>T (p.Ser239Phe)	RPUSD2 (S178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300177	NM_152260.3(RPUSD2):c.730C>G (p.His244Asp)	RPUSD2 (H183D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315369	NM_152260.3(RPUSD2):c.742C>T (p.Arg248Cys)	RPUSD2 (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311604	NM_152260.3(RPUSD2):c.769A>G (p.Ile257Val)	RPUSD2 (I257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156349	NM_152260.3(RPUSD2):c.835G>C (p.Gly279Arg)	RPUSD2 (G218R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318026	NM_152260.3(RPUSD2):c.883G>A (p.Glu295Lys)	RPUSD2 (E234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300278	NM_152260.3(RPUSD2):c.919G>A (p.Val307Met)	RPUSD2 (V246M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367697	NM_152260.3(RPUSD2):c.923G>C (p.Cys308Ser)	RPUSD2 (C247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319836	NM_152260.3(RPUSD2):c.928G>A (p.Val310Met)	RPUSD2 (V249M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232280	NM_152260.3(RPUSD2):c.955G>C (p.Val319Leu)	RPUSD2 (V319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309817	NM_152260.3(RPUSD2):c.1018C>T (p.Arg340Trp)	RPUSD2 (R279W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459451	NM_152260.3(RPUSD2):c.1019G>A (p.Arg340Gln)	RPUSD2 (R340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315372	NM_152260.3(RPUSD2):c.1027C>A (p.Pro343Thr)	RPUSD2 (P282T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302472	NM_152260.3(RPUSD2):c.1051C>G (p.Leu351Val)	RPUSD2 (L290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222673	NM_152260.3(RPUSD2):c.1064G>A (p.Gly355Asp)	RPUSD2 (G355D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156338	NM_152260.3(RPUSD2):c.1186C>T (p.Pro396Ser)	RPUSD2 (P335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496154	NM_152260.3(RPUSD2):c.1220C>A (p.Thr407Lys)	RPUSD2 (T407K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156339	NM_152260.3(RPUSD2):c.1285G>A (p.Asp429Asn)	RPUSD2 (D368N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230688	NM_152260.3(RPUSD2):c.1364A>C (p.Glu455Ala)	RPUSD2 (E455A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156340	NM_152260.3(RPUSD2):c.1411G>A (p.Ala471Thr)	RPUSD2 (A471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315370	NM_152260.3(RPUSD2):c.1436C>G (p.Ala479Gly)	RPUSD2 (A418G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156341	NM_152260.3(RPUSD2):c.1489C>T (p.Pro497Ser)	RPUSD2 (P436S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601381	NM_152260.3(RPUSD2):c.1517G>A (p.Arg506Gln)	RPUSD2 (R445Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510429	NM_152260.3(RPUSD2):c.1582T>G (p.Phe528Val)	RPUSD2 (F467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40