"Ambry Genetics"[submitter] AND "KLHL24"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115572	NM_017644.3(KLHL24):c.8T>C (p.Leu3Pro)	KLHL24 (L3P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515916	NM_017644.3(KLHL24):c.19C>T (p.Arg7Cys)	KLHL24 (R7C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613084	NM_017644.3(KLHL24):c.20G>A (p.Arg7His)	KLHL24 (R7H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115568	NM_017644.3(KLHL24):c.50G>A (p.Arg17His)	KLHL24 (R17H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496145	NM_017644.3(KLHL24):c.71G>A (p.Arg24Gln)	KLHL24 (R24Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115566	NM_017644.3(KLHL24):c.148G>A (p.Glu50Lys)	KLHL24 (E50K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605299	NM_017644.3(KLHL24):c.179G>A (p.Arg60His)	KLHL24 (R60H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522468	NM_017644.3(KLHL24):c.188G>A (p.Arg63His)	KLHL24 (R63H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115567	NM_017644.3(KLHL24):c.383A>G (p.Lys128Arg)	KLHL24 (K128R)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies +1 more	GUncertain significance
Select item 3115569	NM_017644.3(KLHL24):c.604G>A (p.Glu202Lys)	KLHL24 (E202K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2589644	NM_017644.3(KLHL24):c.622G>C (p.Asp208His)	KLHL24 (D208H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115570	NM_017644.3(KLHL24):c.668T>C (p.Ile223Thr)	KLHL24 (I223T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3115571	NM_017644.3(KLHL24):c.763G>A (p.Val255Met)	KLHL24 (V255M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2475458	NM_017644.3(KLHL24):c.844T>C (p.Tyr282His)	KLHL24 (Y282H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2338477	NM_017644.3(KLHL24):c.857A>G (p.His286Arg)	KLHL24 (H286R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3288943	NM_017644.3(KLHL24):c.1210G>A (p.Val404Ile)	KLHL24 (V404I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115564	NM_017644.3(KLHL24):c.1427A>G (p.Asp476Gly)	KLHL24 (D195G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483681	NM_017644.3(KLHL24):c.1546T>C (p.Cys516Arg)	KLHL24 (C235R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394648	NM_017644.3(KLHL24):c.1558G>C (p.Val520Leu)	KLHL24 (V520L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2206770	NM_017644.3(KLHL24):c.1579G>A (p.Val527Ile)	KLHL24 (V246I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459080	NM_017644.3(KLHL24):c.1658G>A (p.Arg553Gln)	KLHL24 (R553Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3288944	NM_017644.3(KLHL24):c.1672G>A (p.Ala558Thr)	KLHL24 (A277T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395829	NM_017644.3(KLHL24):c.1684A>G (p.Ile562Val)	KLHL24 (I281V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048237	NM_017644.3(KLHL24):c.1702G>T (p.Ala568Ser)	KLHL24 (A287S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 24