"Ambry Genetics"[submitter] AND "KLHL32"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2533060	NM_052904.4(KLHL32):c.64G>A (p.Glu22Lys)	KLHL32 (E22K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115677	NM_052904.4(KLHL32):c.92C>T (p.Ala31Val)	KLHL32 (A31V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609869	NM_052904.4(KLHL32):c.104A>C (p.Gln35Pro)	KLHL32 (Q35P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229300	NM_052904.4(KLHL32):c.164C>T (p.Ala55Val)	KLHL32 (A55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115674	NM_052904.4(KLHL32):c.287C>T (p.Ala96Val)	KLHL32 (A32V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2327585	NM_052904.4(KLHL32):c.353C>A (p.Ala118Glu)	KLHL32 (A54E +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3115675	NM_052904.4(KLHL32):c.398A>G (p.His133Arg)	KLHL32 (H133R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2551648	NM_052904.4(KLHL32):c.493G>A (p.Asp165Asn)	KLHL32 (D101N +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2302832	NM_052904.4(KLHL32):c.592C>T (p.Arg198Cys)	KLHL32 (R129C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2562596	NM_052904.4(KLHL32):c.593G>A (p.Arg198His)	KLHL32 (R162H +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2518665	NM_052904.4(KLHL32):c.710A>C (p.Asp237Ala)	KLHL32 (D14A +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2612751	NM_052904.4(KLHL32):c.811A>G (p.Ile271Val)	KLHL32 (I199V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610933	NM_052904.4(KLHL32):c.815A>G (p.Tyr272Cys)	KLHL32 (Y136C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115676	NM_052904.4(KLHL32):c.880A>G (p.Ile294Val)	KLHL32 (I225V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408586	NM_052904.4(KLHL32):c.892A>G (p.Lys298Glu)	KLHL32 (K298E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2212478	NM_052904.4(KLHL32):c.913A>G (p.Lys305Glu)	KLHL32 (K233E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283069	NM_052904.4(KLHL32):c.964G>C (p.Ala322Pro)	KLHL32 (A186P +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314671	NM_052904.4(KLHL32):c.1118C>G (p.Pro373Arg)	KLHL32 (P304R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469923	NM_052904.4(KLHL32):c.1121G>A (p.Arg374His)	KLHL32 (R305H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115671	NM_052904.4(KLHL32):c.1124G>C (p.Ser375Thr)	KLHL32 (S152T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617947	NM_052904.4(KLHL32):c.1135G>T (p.Ala379Ser)	KLHL32 (A156S +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115672	NM_052904.4(KLHL32):c.1181G>A (p.Gly394Asp)	KLHL32 (G322D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594149	NM_052904.4(KLHL32):c.1229G>A (p.Arg410His)	KLHL32 (R338H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115673	NM_052904.4(KLHL32):c.1243A>G (p.Thr415Ala)	KLHL32 (T192A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234730	NM_052904.4(KLHL32):c.1258T>C (p.Cys420Arg)	KLHL32 (C284R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335994	NM_052904.4(KLHL32):c.1289A>G (p.Gln430Arg)	KLHL32 (Q358R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205597	NM_052904.4(KLHL32):c.1540C>T (p.Arg514Cys)	KLHL32 (R445C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 27