"Ambry Genetics"[submitter] AND "KLHDC2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2589110	NM_014315.3(KLHDC2):c.19G>A (p.Asp7Asn)	KLHDC2 (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290433	NM_014315.3(KLHDC2):c.93G>C (p.Glu31Asp)	KLHDC2 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544673	NM_014315.3(KLHDC2):c.136G>A (p.Val46Ile)	KLHDC2 (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610085	NM_014315.3(KLHDC2):c.210C>G (p.Ile70Met)	KLHDC2 (I70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397640	NM_014315.3(KLHDC2):c.215A>G (p.Asn72Ser)	KLHDC2 (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115368	NM_014315.3(KLHDC2):c.403A>G (p.Ile135Val)	KLHDC2 (I135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335161	NM_014315.3(KLHDC2):c.625A>G (p.Ile209Val)	KLHDC2 (I209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553989	NM_014315.3(KLHDC2):c.674C>T (p.Thr225Ile)	KLHDC2 (T225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403444	NM_014315.3(KLHDC2):c.694G>A (p.Val232Met)	KLHDC2 (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461221	NM_014315.3(KLHDC2):c.740A>G (p.Tyr247Cys)	KLHDC2 (Y247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461222	NM_014315.3(KLHDC2):c.775A>G (p.Ile259Val)	KLHDC2 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115369	NM_014315.3(KLHDC2):c.817C>G (p.Leu273Val)	KLHDC2 (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341262	NM_014315.3(KLHDC2):c.982G>A (p.Asp328Asn)	KLHDC2, NEMF (D328N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362976	NM_014315.3(KLHDC2):c.1096C>T (p.Arg366Trp)	KLHDC2, NEMF (R366W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547555	NM_014315.3(KLHDC2):c.1147T>C (p.Trp383Arg)	KLHDC2, NEMF (W383R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255084	NM_014315.3(KLHDC2):c.1152C>A (p.Asn384Lys)	KLHDC2, NEMF (N384K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375362	NM_004713.6(NEMF):c.3161A>G (p.Asp1054Gly)	KLHDC2, NEMF (D1033G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328157	NM_004713.6(NEMF):c.3119C>T (p.Thr1040Ile)	KLHDC2, NEMF (T1019I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289211	NM_004713.6(NEMF):c.3103C>T (p.His1035Tyr)	KLHDC2, NEMF (H1014Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289129	NM_004713.6(NEMF):c.3102G>A (p.Met1034Ile)	KLHDC2, NEMF (M1034I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560123	NM_004713.6(NEMF):c.3101T>C (p.Met1034Thr)	KLHDC2, NEMF (M1034T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529277	NM_004713.6(NEMF):c.2987C>T (p.Ala996Val)	KLHDC2, NEMF (A975V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3193373	NM_004713.6(NEMF):c.2936T>C (p.Leu979Pro)	KLHDC2, NEMF (L958P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 23