"Ambry Genetics"[submitter] AND "KLHL41"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115758	NM_006063.3(KLHL41):c.23C>T (p.Ala8Val)	KLHL41 (A8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556949	NM_006063.3(KLHL41):c.153G>T (p.Leu51Phe)	KLHL41 (L51F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420685	NM_006063.3(KLHL41):c.176G>A (p.Arg59His)	KLHL41 (R59H)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 1034834	NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys)	KLHL41 (E65K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051618	NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu)	KLHL41 (K70E)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 2610147	NM_006063.3(KLHL41):c.289G>A (p.Asp97Asn)	KLHL41 (D97N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115759	NM_006063.3(KLHL41):c.296A>G (p.Asn99Ser)	KLHL41 (N99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922584	NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)	KLHL41 (R155C)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 1486785	NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro)	KLHL41 (Q177P)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 3115760	NM_006063.3(KLHL41):c.633G>T (p.Arg211Ser)	KLHL41 (R211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006388	NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys)	KLHL41 (N214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2250228	NM_006063.3(KLHL41):c.680T>C (p.Met227Thr)	KLHL41 (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391676	NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu)	KLHL41 (K253E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2226274	NM_006063.3(KLHL41):c.799A>T (p.Ser267Cys)	KLHL41 (S267C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531446	NM_006063.3(KLHL41):c.805A>C (p.Asn269His)	KLHL41 (N269H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474876	NM_006063.3(KLHL41):c.832G>A (p.Val278Met)	KLHL41 (V278M)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GConflicting classifications of pathogenicity
Select item 935006	NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu)	KLHL41 (D281E)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 3289034	NM_006063.3(KLHL41):c.869G>T (p.Gly290Val)	KLHL41 (G290V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249750	NM_006063.3(KLHL41):c.898A>G (p.Met300Val)	KLHL41 (M300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115761	NM_006063.3(KLHL41):c.992A>G (p.Glu331Gly)	KLHL41 (E331G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460296	NM_006063.3(KLHL41):c.1025C>G (p.Thr342Ser)	KLHL41 (T342S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318011	NM_006063.3(KLHL41):c.1187T>G (p.Val396Gly)	KLHL41 (V396G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365130	NM_006063.3(KLHL41):c.1192G>A (p.Asp398Asn)	KLHL41 (D398N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307007	NM_006063.3(KLHL41):c.1285G>A (p.Glu429Lys)	KLHL41 (E429K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913876	NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)	KLHL41 (Y438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619657	NM_006063.3(KLHL41):c.1335T>A (p.His445Gln)	KLHL41 (H445Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465032	NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln)	KLHL41 (K455Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 2046651	NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)	KLHL41 (K471R)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 661557	NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)	KLHL41 (D474G)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 653932	NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)	KLHL41 (S486F)	Single nucleotide variant (missense variant)	Nemaline myopathy 9 +1 more	GUncertain significance
Select item 541706	NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp)	KLHL41 (N566D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1040900	NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His)	KLHL41 (Y571H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1924322	NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys)	KLHL41 (Y571C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1018395	NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser)	KLHL41 (R597S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 34