"Ambry Genetics"[submitter] AND "DAPK2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2267050	NM_014326.5(DAPK2):c.1055A>T (p.Glu352Val)	DAPK2 (E197V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355601	NM_014326.5(DAPK2):c.1006G>A (p.Val336Met)	DAPK2 (V127M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2251977	NM_014326.5(DAPK2):c.992C>G (p.Ser331Trp)	DAPK2 (S122W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462633	NM_014326.5(DAPK2):c.940C>T (p.Arg314Trp)	DAPK2 (R159W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2561010	NM_014326.5(DAPK2):c.934C>T (p.Arg312Cys)	DAPK2 (R157C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323248	NM_014326.5(DAPK2):c.931G>A (p.Val311Ile)	DAPK2 (V102I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208608	NM_014326.5(DAPK2):c.847C>T (p.Pro283Ser)	DAPK2 (P128S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288363	NM_014326.5(DAPK2):c.779A>T (p.Asp260Val)	DAPK2 (D105V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480807	NM_014326.5(DAPK2):c.768G>C (p.Glu256Asp)	DAPK2 (E101D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401553	NM_014326.5(DAPK2):c.667G>A (p.Gly223Arg)	DAPK2 (G14R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2491429	NM_014326.5(DAPK2):c.451A>C (p.Lys151Gln)	DAPK2, LOC125078101 (K151Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2355239	NM_014326.5(DAPK2):c.424A>C (p.Thr142Pro)	DAPK2, LOC125078101 (T142P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2462210	NM_014326.5(DAPK2):c.405T>G (p.Asp135Glu)	DAPK2, LOC125078101 (D135E)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2386030	NM_014326.5(DAPK2):c.337G>A (p.Asp113Asn)	DAPK2, LOC125078101 (D113N)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2407626	NM_014326.5(DAPK2):c.283A>G (p.Asn95Asp)	DAPK2 (N95D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2271241	NM_014326.5(DAPK2):c.188G>A (p.Arg63Gln)	DAPK2 (R63Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2467950	NM_014326.5(DAPK2):c.169C>T (p.Arg57Trp)	DAPK2 (R57W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216898	NM_014326.5(DAPK2):c.122G>A (p.Arg41Gln)	DAPK2 (R41Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598830	NM_014326.5(DAPK2):c.121C>T (p.Arg41Trp)	DAPK2 (R41W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance