"Ambry Genetics"[submitter] AND "PRKD3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507898	NM_005813.6(PRKD3):c.2646T>A (p.Asn882Lys)	NDUFAF7, PRKD3 (N882K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2288926	NM_005813.6(PRKD3):c.2542A>G (p.Ile848Val)	NDUFAF7, PRKD3 (I848V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296060	NM_005813.6(PRKD3):c.2540G>A (p.Arg847His)	PRKD3, NDUFAF7 (R847H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319040	NM_005813.6(PRKD3):c.2500G>C (p.Asp834His)	NDUFAF7, PRKD3 (D834H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203813	NM_005813.6(PRKD3):c.2245C>T (p.Arg749Trp)	NDUFAF7, PRKD3 (R749W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524441	NM_005813.6(PRKD3):c.2021G>A (p.Arg674Gln)	NDUFAF7, PRKD3 (R674Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228907	NM_005813.6(PRKD3):c.1582C>T (p.Arg528Cys)	PRKD3 (R528C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307431	NM_005813.6(PRKD3):c.1532C>G (p.Ala511Gly)	PRKD3 (A511G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543121	NM_005813.6(PRKD3):c.1489G>T (p.Val497Phe)	PRKD3 (V497F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282619	NM_005813.6(PRKD3):c.1445A>G (p.Asn482Ser)	PRKD3 (N482S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401964	NM_005813.6(PRKD3):c.1402A>G (p.Ile468Val)	PRKD3 (I468V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309497	NM_005813.6(PRKD3):c.1279A>G (p.Thr427Ala)	PRKD3 (T427A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474454	NM_005813.6(PRKD3):c.1233G>C (p.Lys411Asn)	PRKD3 (K411N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365635	NM_005813.6(PRKD3):c.1135G>A (p.Asp379Asn)	PRKD3 (D379N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361506	NM_005813.6(PRKD3):c.1037A>G (p.Asn346Ser)	PRKD3 (N346S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464188	NM_005813.6(PRKD3):c.983A>G (p.Asn328Ser)	PRKD3 (N328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220312	NM_005813.6(PRKD3):c.981C>G (p.Phe327Leu)	PRKD3 (F327L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256176	NM_005813.6(PRKD3):c.889C>T (p.Arg297Cys)	PRKD3 (R297C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405274	NM_005813.6(PRKD3):c.614G>A (p.Ser205Asn)	PRKD3 (S205N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316202	NM_005813.6(PRKD3):c.602C>T (p.Pro201Leu)	PRKD3 (P201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570132	NM_005813.6(PRKD3):c.298T>G (p.Cys100Gly)	PRKD3 (C100G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512703	NM_005813.6(PRKD3):c.224T>C (p.Ile75Thr)	PRKD3 (I75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409969	NM_005813.6(PRKD3):c.181T>A (p.Ser61Thr)	PRKD3 (S61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614881	NM_005813.6(PRKD3):c.127G>A (p.Gly43Arg)	PRKD3 (G43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613378	NM_005813.6(PRKD3):c.45A>T (p.Leu15Phe)	PRKD3 (L15F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25