PRKD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	ABHD4, ACIN1 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	LOC130055505, LOC130055506 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	LOC129390619, LOC129390620 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3284 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC112272545, LOC112272546 +3279 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055260, LOC130055261 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	LOC130055506, LOC130055507 +399 more	Copy number loss	See cases	GPathogenic
Select item 2579199	GRCh38/hg38 14q12(chr14:28766690-29666306)x1	FOXG1, LINC01551 +12 more	Copy number loss	Rett syndrome, congenital variant	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 758729	NM_002742.3(PRKD1):c.2723G>A (p.Arg908His)	PRKD1 (R908H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720359	NM_002742.3(PRKD1):c.2718T>G (p.Gly906=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3892182	NM_002742.3(PRKD1):c.2705T>C (p.Met902Thr)	PRKD1 (M814T +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 3425160	NM_002742.3(PRKD1):c.2704A>C (p.Met902Leu)	PRKD1 (M814L +2 more)	Single nucleotide variant (missense variant)	not specified	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 3356429	NM_002742.3(PRKD1):c.2671del (p.His891fs)	PRKD1 (H803fs +2 more)	Deletion (frameshift variant)	PRKD1-related disorder	GUncertain significance
Select item 784280	NM_002742.3(PRKD1):c.2657A>G (p.Asn886Ser)	PRKD1 (N894S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 3425163	NM_002742.3(PRKD1):c.2620G>T (p.Gly874Cys)	PRKD1 (G874C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040503	NM_002742.3(PRKD1):c.2619A>G (p.Ala873=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related disorder	GLikely benign
Select item 3393180	NM_002742.3(PRKD1):c.2576A>G (p.Tyr859Cys)	PRKD1 (Y771C +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GLikely benign
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 3902997	NM_002742.3(PRKD1):c.2572C>T (p.Arg858Cys)	PRKD1 (R770C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720962	NM_002742.3(PRKD1):c.2565C>T (p.Ile855=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	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 disorder	GLikely benign
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 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 3783364	NM_002742.3(PRKD1):c.2492A>C (p.Asp831Ala)	PRKD1 (D743A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3764654	NM_002742.3(PRKD1):c.2479C>T (p.Arg827Cys)	PRKD1 (R739C +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 756313	NM_002742.3(PRKD1):c.2457G>A (p.Leu819=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3938173	NM_002742.3(PRKD1):c.2437A>G (p.Ile813Val)	PRKD1 (I725V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327445	NM_002742.3(PRKD1):c.2435-14G>A	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3425158	NM_002742.3(PRKD1):c.2429A>C (p.His810Pro)	PRKD1 (H818P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445978	NM_002742.3(PRKD1):c.2422A>G (p.Ile808Val)	PRKD1 (I816V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3034504	NM_002742.3(PRKD1):c.2370C>T (p.His790=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related disorder	GLikely benign
Select item 745073	NM_002742.3(PRKD1):c.2335G>A (p.Gly779Ser)	PRKD1 (G779S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 493141	NM_002742.3(PRKD1):c.2280C>T (p.Tyr760=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	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 998171	NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln)	PRKD1 (R652Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 746294	NM_002742.3(PRKD1):c.2208G>A (p.Glu736=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 1327447	NM_002742.3(PRKD1):c.2167-12T>A	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327448	NM_002742.3(PRKD1):c.2166+39A>C	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 3359652	NM_002742.3(PRKD1):c.2071C>T (p.Leu691Phe)	PRKD1 (L603F +2 more)	Single nucleotide variant (missense variant)	not provided	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 3425159	NM_002742.3(PRKD1):c.2030G>A (p.Arg677Lys)	PRKD1 (R589K +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 161599	NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)	PRKD1 (D665N +2 more)	Single nucleotide variant (missense variant)	Prostate cancer	GUncertain significance
Select item 3783361	NM_002742.3(PRKD1):c.1984C>T (p.Leu662Phe)	PRKD1 (L574F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791591	NM_002742.3(PRKD1):c.1953G>A (p.Thr651=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3425157	NM_002742.3(PRKD1):c.1952C>T (p.Thr651Met)	PRKD1 (T651M +2 more)	Single nucleotide variant (missense variant)	not specified	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 3358335	NM_002742.3(PRKD1):c.1938G>A (p.Glu646=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related disorder	GLikely benign
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 3898876	NM_002742.3(PRKD1):c.1925T>A (p.Val642Asp)	PRKD1 (V554D +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 3938177	NM_002742.3(PRKD1):c.1875C>G (p.Ser625Arg)	PRKD1 (S537R +2 more)	Single nucleotide variant (missense variant)	not specified	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 3368509	NM_002742.3(PRKD1):c.1857dup (p.Pro620fs)	PRKD1 (P532fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 203494	NM_002742.3(PRKD1):c.1852C>T (p.Arg618Ter)	PRKD1 (R618* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3783367	NM_002742.3(PRKD1):c.1841T>C (p.Ile614Thr)	PRKD1 (I614T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 3055507	NM_002742.3(PRKD1):c.1808G>T (p.Arg603Leu)	PRKD1 (R515L +2 more)	Single nucleotide variant (missense variant)	PRKD1-related disorder	GUncertain significance
Select item 1934696	NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)	PRKD1 (R515H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3901612	NM_002742.3(PRKD1):c.1799G>T (p.Gly600Val)	PRKD1 (G512V +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 754461	NM_002742.3(PRKD1):c.1776A>G (p.Gly592=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 375740	NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)	PRKD1 (G592R +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GPathogenic
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 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 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 3372243	NM_002742.3(PRKD1):c.1670A>T (p.His557Leu)	PRKD1 (H469L +2 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 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 3938176	NM_002742.3(PRKD1):c.1646C>T (p.Ser549Phe)	PRKD1 (S557F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3783362	NM_002742.3(PRKD1):c.1638G>C (p.Lys546Asn)	PRKD1 (K458N +2 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	GUncertain significance
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 3052110	NM_002742.3(PRKD1):c.1626C>T (p.Pro542=)	PRKD1	Single nucleotide variant (synonymous variant)	PRKD1-related disorder	GLikely benign
Select item 3346385	NM_002742.3(PRKD1):c.1609C>T (p.Gln537Ter)	PRKD1 (Q449* +2 more)	Single nucleotide variant (nonsense)	PRKD1-related disorder	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 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 3896599	NM_002742.3(PRKD1):c.1495G>A (p.Val499Ile)	PRKD1 (V411I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392938	NM_002742.3(PRKD1):c.1493A>G (p.Asn498Ser)	PRKD1 (N410S +2 more)	Single nucleotide variant (missense variant)	not provided +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

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