ClinVar for Gene (Select 5587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064443	NM_002742.3(PRKD1):c.265-1G>T	PRKD1	Single nucleotide variant (splice acceptor variant)	Congenital heart defects and ectodermal dysplasia	GLikely pathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3055507	NM_002742.3(PRKD1):c.1808G>T (p.Arg603Leu)	PRKD1 (R515L +2 more)	Single nucleotide variant (missense variant)	PRKD1-related condition	GUncertain significance
Select item 3052110	NM_002742.3(PRKD1):c.1626C>T (p.Pro542=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GLikely benign
Select item 3052083	NM_002742.3(PRKD1):c.1393-10del	PRKD1	Deletion (intron variant)	PRKD1-related condition	GLikely benign
Select item 3051587	NM_002742.3(PRKD1):c.59C>T (p.Ala20Val)	PRKD1 (A20V)	Single nucleotide variant (missense variant)	PRKD1-related condition	GLikely benign
Select item 3044767	NM_002742.3(PRKD1):c.942G>A (p.Pro314=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GBenign
Select item 3043184	NM_002742.3(PRKD1):c.327C>T (p.Thr109=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GLikely benign
Select item 3042646	NM_002742.3(PRKD1):c.2564T>A (p.Ile855Asn)	PRKD1 (I767N +2 more)	Single nucleotide variant (missense variant)	PRKD1-related condition	GLikely benign
Select item 3042425	NM_002742.3(PRKD1):c.591C>T (p.Ser197=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GLikely benign
Select item 3040503	NM_002742.3(PRKD1):c.2619A>G (p.Ala873=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GLikely benign
Select item 3034504	NM_002742.3(PRKD1):c.2370C>T (p.His790=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related condition	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644149	NM_002742.3(PRKD1):c.601C>T (p.Arg201Trp)	PRKD1 (R105W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644148	NM_002742.3(PRKD1):c.1651G>A (p.Gly551Ser)	PRKD1 (G463S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644147	NM_002742.3(PRKD1):c.2195G>A (p.Arg732Gln)	PRKD1 (R644Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644146	NM_002742.3(PRKD1):c.2672A>G (p.His891Arg)	PRKD1 (H803R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634897	NM_002742.3(PRKD1):c.754T>C (p.Tyr252His)	PRKD1 (Y164H +2 more)	Single nucleotide variant (missense variant)	PRKD1-related condition	GUncertain significance
Select item 2633975	NM_002742.3(PRKD1):c.61G>C (p.Ala21Pro)	PRKD1 (A21P)	Single nucleotide variant (missense variant)	PRKD1-related condition	GUncertain significance
Select item 2631720	NM_002742.3(PRKD1):c.802A>T (p.Lys268Ter)	PRKD1 (K180* +2 more)	Single nucleotide variant (nonsense)	PRKD1-related condition	GUncertain significance
Select item 2628732	NM_002742.3(PRKD1):c.1633C>T (p.Pro545Ser)	PRKD1 (P457S +2 more)	Single nucleotide variant (missense variant)	PRKD1-related condition	GUncertain significance
Select item 2627323	NM_002742.3(PRKD1):c.1570G>A (p.Val524Ile)	PRKD1 (V436I +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)	Inborn genetic diseases	GUncertain significance
Select item 2582918	NM_002742.3(PRKD1):c.1114A>G (p.Met372Val)	PRKD1 (M284V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2579199	GRCh38/hg38 14q12(chr14:28766690-29666306)x1	FOXG1, LINC01551 +12 more	Copy number loss	Rett syndrome, congenital variant	GPathogenic
Select item 2574529	NM_002742.3(PRKD1):c.2498C>A (p.Thr833Asn)	PRKD1 (T745N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572890	NM_002742.3(PRKD1):c.1792T>G (p.Tyr598Asp)	PRKD1 (Y510D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548366	NM_002742.3(PRKD1):c.591C>G (p.Ser197Arg)	PRKD1 (S197R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545993	NM_002742.3(PRKD1):c.716C>T (p.Ser239Leu)	PRKD1 (S151L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526083	NM_002742.3(PRKD1):c.103C>T (p.Pro35Ser)	PRKD1 (P35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502023	NM_002742.3(PRKD1):c.2015C>T (p.Ser672Leu)	PRKD1 (S584L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487513	NM_002742.3(PRKD1):c.2154T>G (p.Asp718Glu)	PRKD1 (D726E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487477	NM_002742.3(PRKD1):c.100G>A (p.Gly34Arg)	PRKD1 (G34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481605	NM_002742.3(PRKD1):c.608G>A (p.Arg203Lys)	PRKD1 (R107K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479900	NM_002742.3(PRKD1):c.1304A>G (p.Lys435Arg)	PRKD1 (K443R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469184	NM_002742.3(PRKD1):c.1080G>C (p.Met360Ile)	PRKD1 (M360I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446294	NM_002742.3(PRKD1):c.1923TGT[1] (p.Val643del)	PRKD1 (V555del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2443445	NM_002742.3(PRKD1):c.433C>T (p.Arg145Cys)	PRKD1 (R145C +1 more)	Single nucleotide variant (missense variant)	not provided	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	GUncertain significance
Select item 2435245	NM_002742.3(PRKD1):c.345G>C (p.Gln115His)	PRKD1 (Q115H +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 2435244	NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn)	PRKD1 (S266N +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 2406579	NM_002742.3(PRKD1):c.2453A>G (p.Asn818Ser)	PRKD1 (N818S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398261	NM_002742.3(PRKD1):c.1487C>T (p.Thr496Met)	PRKD1 (T408M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395846	NM_002742.3(PRKD1):c.1128G>T (p.Gln376His)	PRKD1 (Q384H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388016	NM_002742.3(PRKD1):c.1088C>T (p.Ala363Val)	PRKD1 (A371V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386150	NM_002742.3(PRKD1):c.1168G>A (p.Glu390Lys)	PRKD1 (E390K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385062	NM_002742.3(PRKD1):c.379G>A (p.Asp127Asn)	PRKD1 (D127N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376754	NM_002742.3(PRKD1):c.1648G>A (p.Val550Met)	PRKD1 (V462M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370717	NM_002742.3(PRKD1):c.905A>G (p.Lys302Arg)	PRKD1 (K214R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366273	NM_002742.3(PRKD1):c.83T>G (p.Val28Gly)	PRKD1 (V28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2357509	NM_002742.3(PRKD1):c.38T>C (p.Leu13Pro)	PRKD1 (L13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 2336433	NM_002742.3(PRKD1):c.1609C>A (p.Gln537Lys)	PRKD1 (Q449K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331156	NM_002742.3(PRKD1):c.1897A>G (p.Ile633Val)	PRKD1 (I633V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285404	NM_002742.3(PRKD1):c.1009T>C (p.Ser337Pro)	PRKD1 (S249P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282481	NM_002742.3(PRKD1):c.689C>T (p.Pro230Leu)	PRKD1 (P134L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267778	NM_002742.3(PRKD1):c.157C>G (p.Leu53Val)	PRKD1 (L53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236439	NM_002742.3(PRKD1):c.356C>T (p.Ala119Val)	PRKD1 (A119V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225888	NM_002742.3(PRKD1):c.2573G>A (p.Arg858His)	PRKD1 (R858H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225756	NM_002742.3(PRKD1):c.256G>T (p.Asp86Tyr)	PRKD1 (D86Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209369	NM_002742.3(PRKD1):c.1284G>T (p.Trp428Cys)	PRKD1 (W340C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205819	NM_002742.3(PRKD1):c.1882C>T (p.Arg628Cys)	PRKD1 (R540C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934696	NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)	PRKD1 (R515H +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1805316	NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)	PRKD1 (T184I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1805098	NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)	PRKD1 (S537I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1804122	NM_002742.3(PRKD1):c.1754C>T (p.Pro585Leu)	PRKD1 (P497L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1803308	NM_002742.3(PRKD1):c.208G>C (p.Gly70Arg)	PRKD1 (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712698	NM_002742.3(PRKD1):c.2173C>T (p.Leu725Phe)	PRKD1 (L637F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1700921	NM_002742.3(PRKD1):c.1213C>G (p.Pro405Ala)	PRKD1 (P317A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700150	NM_002742.3(PRKD1):c.2134G>A (p.Val712Met)	PRKD1 (V624M +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1698759	NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter)	PRKD1 (Q788* +2 more)	Single nucleotide variant (nonsense)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1696583	NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr)	PRKD1 (A148T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1691270	NM_002742.3(PRKD1):c.1905+2T>A	PRKD1	Single nucleotide variant (splice donor variant)	Congenital heart defects and ectodermal dysplasia	GLikely pathogenic
Select item 1685037	NM_002742.3(PRKD1):c.922T>G (p.Cys308Gly)	PRKD1 (C220G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685036	NM_002742.3(PRKD1):c.2443C>G (p.Leu815Val)	PRKD1 (L727V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527807	GRCh37/hg19 14q12(chr14:29372798-30197863)	PRKD1	Copy number gain	not specified	GUncertain significance
Select item 1329778	NM_002742.3(PRKD1):c.305T>C (p.Leu102Pro)	PRKD1 (L102P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327448	NM_002742.3(PRKD1):c.2166+39A>C	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1327447	NM_002742.3(PRKD1):c.2167-12T>A	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327446	NM_002742.3(PRKD1):c.2202T>C (p.Ile734=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1327445	NM_002742.3(PRKD1):c.2435-14G>A	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GBenign
Select item 1305040	NM_002742.3(PRKD1):c.271G>A (p.Glu91Lys)	PRKD1 (E91K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278058	NM_002742.3(PRKD1):c.265-19A>G	PRKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206051	NM_002742.3(PRKD1):c.719T>G (p.Phe240Cys)	PRKD1 (F152C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1122960	NM_002742.3(PRKD1):c.1477G>A (p.Glu493Lys)	PRKD1 (E405K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1085109	NM_002742.3(PRKD1):c.1627G>A (p.Val543Ile)	PRKD1 (V455I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1049219	NM_002742.3(PRKD1):c.671C>G (p.Thr224Arg)	PRKD1 (T128R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1032084	NM_002742.3(PRKD1):c.445C>G (p.Leu149Val)	PRKD1 (L53V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032083	NM_002742.3(PRKD1):c.317A>G (p.His106Arg)	PRKD1 (H106R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032082	NM_002742.3(PRKD1):c.2068-11C>A	PRKD1	Single nucleotide variant (intron variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032081	NM_002742.3(PRKD1):c.1947T>G (p.Phe649Leu)	PRKD1 (F649L +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1032079	NM_002742.3(PRKD1):c.1322G>A (p.Arg441Gln)	PRKD1 (R441Q +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 998171	NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln)	PRKD1 (R652Q +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic
Select item 982667	NM_002742.3(PRKD1):c.496A>G (p.Met166Val)	PRKD1 (M166V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 980477	GRCh37/hg19 14q12(chr14:25172628-30285023)x1	NOVA1, STXBP6 +2 more	Copy number loss	not provided	GPathogenic

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