PRKD2[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2328051	NM_016457.5(PRKD2):c.2333C>T (p.Ala778Val)	PRKD2 (A621V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232318	NM_016457.5(PRKD2):c.2288A>G (p.Asn763Ser)	PRKD2 (N606S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210336	NM_016457.5(PRKD2):c.2191T>A (p.Ser731Thr)	PRKD2 (S574T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398162	NM_016457.5(PRKD2):c.2103C>G (p.Ile701Met)	PRKD2 (I544M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310019	NM_016457.5(PRKD2):c.2098C>T (p.Arg700Cys)	PRKD2 (R543C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280536	NM_016457.5(PRKD2):c.1934G>A (p.Arg645Gln)	PRKD2 (R645Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788026	NM_016457.5(PRKD2):c.1824C>G (p.Pro608=)	PRKD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2297257	NM_016457.5(PRKD2):c.1817G>A (p.Arg606Gln)	PRKD2 (R606Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348603	NM_016457.5(PRKD2):c.1816C>G (p.Arg606Gly)	PRKD2 (R449G +1 more)	Single nucleotide variant (missense variant)	PRKD2-related disorder	GUncertain significance
Select item 2527119	NM_016457.5(PRKD2):c.1589T>C (p.Leu530Pro)	PRKD2 (L530P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218828	NM_016457.5(PRKD2):c.1583C>T (p.Ala528Val)	PRKD2 (A371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512117	NM_016457.5(PRKD2):c.1493G>A (p.Arg498Gln)	PRKD2 (R498Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054886	NM_016457.5(PRKD2):c.1480G>A (p.Ala494Thr)	PRKD2 (A337T +1 more)	Single nucleotide variant (missense variant)	PRKD2-related disorder	GLikely benign
Select item 781493	NM_016457.5(PRKD2):c.1478G>C (p.Gly493Ala)	PRKD2 (G336A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2251384	NM_016457.5(PRKD2):c.1418A>G (p.Asn473Ser)	PRKD2 (N316S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495611	NM_016457.5(PRKD2):c.1397G>T (p.Cys466Phe)	PRKD2 (C466F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229689	NM_016457.5(PRKD2):c.1388A>G (p.Asn463Ser)	PRKD2 (N306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362415	NM_016457.5(PRKD2):c.1379C>T (p.Pro460Leu)	PRKD2 (P460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454599	NM_016457.5(PRKD2):c.1343C>T (p.Thr448Met)	PRKD2 (T291M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781508	NM_016457.5(PRKD2):c.1318-9G>A	PRKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3310017	NM_016457.5(PRKD2):c.1202A>C (p.Glu401Ala)	PRKD2 (E244A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218826	NM_016457.5(PRKD2):c.1163T>C (p.Val388Ala)	PRKD2 (V388A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322443	NM_016457.5(PRKD2):c.1096G>A (p.Glu366Lys)	PRKD2 (E209K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470049	NM_016457.5(PRKD2):c.1015G>A (p.Ala339Thr)	PRKD2 (A339T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053073	NM_016457.5(PRKD2):c.1009_1010del (p.Lys337fs)	PRKD2 (K180fs +1 more)	Deletion (frameshift variant)	PRKD2-related disorder	GUncertain significance
Select item 2232627	NM_016457.5(PRKD2):c.928G>A (p.Val310Ile)	PRKD2 (V153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711222	NM_016457.5(PRKD2):c.918C>T (p.Cys306=)	PRKD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242551	NM_016457.5(PRKD2):c.667-6C>T	PRKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3218835	NM_016457.5(PRKD2):c.661G>A (p.Glu221Lys)	PRKD2 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044983	NM_016457.5(PRKD2):c.572C>T (p.Ala191Val)	PRKD2 (A191V +1 more)	Single nucleotide variant (missense variant)	PRKD2-related disorder	GLikely benign
Select item 3218834	NM_016457.5(PRKD2):c.571G>A (p.Ala191Thr)	PRKD2 (A191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218833	NM_016457.5(PRKD2):c.517G>A (p.Gly173Arg)	PRKD2 (G16R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310018	NM_016457.5(PRKD2):c.487G>A (p.Val163Met)	PRKD2 (V6M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310020	NM_016457.5(PRKD2):c.412C>T (p.Pro138Ser)	PRKD2 (P138S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297258	NM_016457.5(PRKD2):c.260A>G (p.Tyr87Cys)	PRKD2 (Y87C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261997	NM_016457.5(PRKD2):c.239A>G (p.Lys80Arg)	PRKD2 (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535788	NM_016457.5(PRKD2):c.106C>T (p.Pro36Ser)	PRKD2 (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218837	NM_016457.5(PRKD2):c.94C>T (p.Pro32Ser)	PRKD2 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218836	NM_016457.5(PRKD2):c.86A>C (p.Gln29Pro)	PRKD2 (Q29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525581	NM_016457.5(PRKD2):c.62C>T (p.Pro21Leu)	PRKD2 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276382	NM_016457.5(PRKD2):c.53G>T (p.Gly18Val)	PRKD2 (G18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532803	NM_016457.5(PRKD2):c.46G>C (p.Gly16Arg)	PRKD2 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218832	NM_016457.5(PRKD2):c.41C>T (p.Ser14Phe)	PRKD2 (S14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43