"Ambry Genetics"[submitter] AND "KLHDC8B"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2146540	NM_173546.3(KLHDC8B):c.19C>T (p.Arg7Trp)	KLHDC8B (R7W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539598	NM_173546.3(KLHDC8B):c.61C>T (p.Arg21Trp)	KLHDC8B (R21W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305506	NM_173546.3(KLHDC8B):c.164C>T (p.Ala55Val)	KLHDC8B (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509134	NM_173546.3(KLHDC8B):c.169C>T (p.His57Tyr)	KLHDC8B (H57Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2721997	NM_173546.3(KLHDC8B):c.200C>T (p.Thr67Ile)	KLHDC8B (T67I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2215133	NM_173546.3(KLHDC8B):c.206G>A (p.Arg69Gln)	KLHDC8B (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115434	NM_173546.3(KLHDC8B):c.326G>A (p.Arg109His)	KLHDC8B (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115435	NM_173546.3(KLHDC8B):c.362C>T (p.Ala121Val)	KLHDC8B (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115436	NM_173546.3(KLHDC8B):c.400G>A (p.Gly134Arg)	KLHDC8B (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2979993	NM_173546.3(KLHDC8B):c.436C>T (p.Arg146Cys)	KLHDC8B (R146C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2602048	NM_173546.3(KLHDC8B):c.437G>A (p.Arg146His)	KLHDC8B (R146H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2539047	NM_173546.3(KLHDC8B):c.454C>T (p.Arg152Trp)	KLHDC8B (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494859	NM_173546.3(KLHDC8B):c.461G>A (p.Cys154Tyr)	KLHDC8B (C154Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239534	NM_173546.3(KLHDC8B):c.470C>T (p.Ser157Leu)	KLHDC8B (S157L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2157452	NM_173546.3(KLHDC8B):c.520G>A (p.Gly174Arg)	KLHDC8B (G174R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2267765	NM_173546.3(KLHDC8B):c.532T>C (p.Tyr178His)	KLHDC8B (Y178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379425	NM_173546.3(KLHDC8B):c.598C>T (p.Arg200Cys)	KLHDC8B (R200C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270823	NM_173546.3(KLHDC8B):c.599G>A (p.Arg200His)	KLHDC8B (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288872	NM_173546.3(KLHDC8B):c.619A>G (p.Ser207Gly)	KLHDC8B (S207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488264	NM_173546.3(KLHDC8B):c.631C>G (p.Arg211Gly)	KLHDC8B (R211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115437	NM_173546.3(KLHDC8B):c.755A>T (p.Asp252Val)	KLHDC8B (D252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222980	NM_173546.3(KLHDC8B):c.787C>T (p.Arg263Cys)	KLHDC8B (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288873	NM_173546.3(KLHDC8B):c.919C>T (p.Arg307Trp)	KLHDC8B (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277777	NM_173546.3(KLHDC8B):c.920G>A (p.Arg307Gln)	KLHDC8B (R307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115432	NM_173546.3(KLHDC8B):c.1007G>T (p.Gly336Val)	KLHDC8B (G336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115433	NM_173546.3(KLHDC8B):c.1033G>A (p.Val345Met)	KLHDC8B (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26