"Ambry Genetics"[submitter] AND "PRKD1"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218820	NM_002742.3(PRKD1):c.2623G>A (p.Glu875Lys)	PRKD1 (E875K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225888	NM_002742.3(PRKD1):c.2573G>A (p.Arg858His)	PRKD1 (R858H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218819	NM_002742.3(PRKD1):c.2522A>T (p.Asp841Val)	PRKD1 (D841V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406579	NM_002742.3(PRKD1):c.2453A>G (p.Asn818Ser)	PRKD1 (N818S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218818	NM_002742.3(PRKD1):c.2291T>G (p.Leu764Arg)	PRKD1 (L764R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218817	NM_002742.3(PRKD1):c.2284C>T (p.Arg762Cys)	PRKD1 (R762C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218816	NM_002742.3(PRKD1):c.2270A>G (p.Asn757Ser)	PRKD1 (N669S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218815	NM_002742.3(PRKD1):c.2182T>C (p.Phe728Leu)	PRKD1 (F736L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487513	NM_002742.3(PRKD1):c.2154T>G (p.Asp718Glu)	PRKD1 (D726E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218814	NM_002742.3(PRKD1):c.2102A>G (p.Asn701Ser)	PRKD1 (N701S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218812	NM_002742.3(PRKD1):c.2005A>G (p.Met669Val)	PRKD1 (M669V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623856	NM_002742.3(PRKD1):c.1921G>A (p.Gly641Ser)	PRKD1 (G553S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331156	NM_002742.3(PRKD1):c.1897A>G (p.Ile633Val)	PRKD1 (I633V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205819	NM_002742.3(PRKD1):c.1882C>T (p.Arg628Cys)	PRKD1 (R540C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310016	NM_002742.3(PRKD1):c.1763T>G (p.Val588Gly)	PRKD1 (V500G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310012	NM_002742.3(PRKD1):c.1723G>A (p.Val575Met)	PRKD1 (V575M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376754	NM_002742.3(PRKD1):c.1648G>A (p.Val550Met)	PRKD1 (V462M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336433	NM_002742.3(PRKD1):c.1609C>A (p.Gln537Lys)	PRKD1 (Q449K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435246	NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr)	PRKD1 (A441T +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia +1 more	GUncertain significance
Select item 2398261	NM_002742.3(PRKD1):c.1487C>T (p.Thr496Met)	PRKD1 (T408M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310011	NM_002742.3(PRKD1):c.1486A>G (p.Thr496Ala)	PRKD1 (T504A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931739	NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)	PRKD1 (G486R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2364745	NM_002742.3(PRKD1):c.1438T>C (p.Ser480Pro)	PRKD1 (S480P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2479900	NM_002742.3(PRKD1):c.1304A>G (p.Lys435Arg)	PRKD1 (K443R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218811	NM_002742.3(PRKD1):c.1301G>C (p.Ser434Thr)	PRKD1 (S434T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209369	NM_002742.3(PRKD1):c.1284G>T (p.Trp428Cys)	PRKD1 (W340C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354379	NM_002742.3(PRKD1):c.1270A>G (p.Met424Val)	PRKD1 (M432V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386150	NM_002742.3(PRKD1):c.1168G>A (p.Glu390Lys)	PRKD1 (E390K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218810	NM_002742.3(PRKD1):c.1137T>G (p.Ser379Arg)	PRKD1 (S379R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395846	NM_002742.3(PRKD1):c.1128G>T (p.Gln376His)	PRKD1 (Q384H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388016	NM_002742.3(PRKD1):c.1088C>T (p.Ala363Val)	PRKD1 (A371V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469184	NM_002742.3(PRKD1):c.1080G>C (p.Met360Ile)	PRKD1 (M360I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285404	NM_002742.3(PRKD1):c.1009T>C (p.Ser337Pro)	PRKD1 (S249P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218825	NM_002742.3(PRKD1):c.982G>A (p.Gly328Arg)	PRKD1 (G328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310010	NM_002742.3(PRKD1):c.938C>T (p.Ala313Val)	PRKD1 (A225V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218824	NM_002742.3(PRKD1):c.931C>T (p.Arg311Cys)	PRKD1 (R319C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370717	NM_002742.3(PRKD1):c.905A>G (p.Lys302Arg)	PRKD1 (K214R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218823	NM_002742.3(PRKD1):c.782A>G (p.Lys261Arg)	PRKD1 (K261R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206051	NM_002742.3(PRKD1):c.719T>G (p.Phe240Cys)	PRKD1 (F152C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2545993	NM_002742.3(PRKD1):c.716C>T (p.Ser239Leu)	PRKD1 (S151L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282481	NM_002742.3(PRKD1):c.689C>T (p.Pro230Leu)	PRKD1 (P134L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310009	NM_002742.3(PRKD1):c.668C>A (p.Ser223Tyr)	PRKD1 (S127Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481605	NM_002742.3(PRKD1):c.608G>A (p.Arg203Lys)	PRKD1 (R107K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218821	NM_002742.3(PRKD1):c.607A>G (p.Arg203Gly)	PRKD1 (R107G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548366	NM_002742.3(PRKD1):c.591C>G (p.Ser197Arg)	PRKD1 (S197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385062	NM_002742.3(PRKD1):c.379G>A (p.Asp127Asn)	PRKD1 (D127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236439	NM_002742.3(PRKD1):c.356C>T (p.Ala119Val)	PRKD1 (A119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746702	NM_002742.3(PRKD1):c.316C>T (p.His106Tyr)	PRKD1 (H106Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2225756	NM_002742.3(PRKD1):c.256G>T (p.Asp86Tyr)	PRKD1 (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267778	NM_002742.3(PRKD1):c.157C>G (p.Leu53Val)	PRKD1 (L53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310014	NM_002742.3(PRKD1):c.131C>T (p.Ala44Val)	PRKD1 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218809	NM_002742.3(PRKD1):c.112T>G (p.Phe38Val)	PRKD1 (F38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526083	NM_002742.3(PRKD1):c.103C>T (p.Pro35Ser)	PRKD1 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487477	NM_002742.3(PRKD1):c.100G>A (p.Gly34Arg)	PRKD1 (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366273	NM_002742.3(PRKD1):c.83T>G (p.Val28Gly)	PRKD1 (V28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357509	NM_002742.3(PRKD1):c.38T>C (p.Leu13Pro)	PRKD1 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310015	NM_002742.3(PRKD1):c.7G>T (p.Ala3Ser)	PRKD1 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 57