"Ambry Genetics"[submitter] AND "CLPX"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2312797	NM_006660.5(CLPX):c.1868G>A (p.Gly623Glu)	CLPX (G623E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460558	NM_006660.5(CLPX):c.1841A>G (p.Glu614Gly)	CLPX (E614G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266174	NM_006660.5(CLPX):c.1591G>A (p.Ala531Thr)	CLPX (A531T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254500	NM_006660.5(CLPX):c.1453A>G (p.Arg485Gly)	CLPX (R485G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265372	NM_006660.5(CLPX):c.1391G>A (p.Gly464Glu)	CLPX (G464E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2171743	NM_006660.5(CLPX):c.1271A>G (p.Asn424Ser)	CLPX (N424S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2381019	NM_006660.5(CLPX):c.1056A>C (p.Gln352His)	CLPX (Q352H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2379874	NM_006660.5(CLPX):c.1032T>G (p.Asn344Lys)	CLPX (N344K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338229	NM_006660.5(CLPX):c.493C>T (p.Pro165Ser)	CLPX (P165S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294110	NM_006660.5(CLPX):c.467C>T (p.Ala156Val)	CLPX (A156V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1596385	NM_006660.5(CLPX):c.463G>A (p.Glu155Lys)	CLPX (E155K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2335268	NM_006660.5(CLPX):c.439A>G (p.Ile147Val)	CLPX (I147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554599	NM_006660.5(CLPX):c.364A>G (p.Thr122Ala)	CLPX (T122A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1358995	NM_006660.5(CLPX):c.193G>T (p.Ala65Ser)	CLPX (A65S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538961	NM_006660.5(CLPX):c.128C>T (p.Thr43Ile)	CLPX (T43I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328755	NM_006660.5(CLPX):c.47T>G (p.Leu16Arg)	CLPX (L16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547105	NM_006660.5(CLPX):c.41T>G (p.Val14Gly)	CLPX (V14G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance