Prkd1 Variant Search Result - Rat Genome Database

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205 records found for search term Prkd1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405282036	CV3224648	single nucleotide variant	NM_002742.3(PRKD1):c.265-1G>T	Congenital heart defects and ectodermal dysplasia [RCV003988983]	likely pathogenic	14	29725675	29725675	Human	1	name
15197550	CV730935	single nucleotide variant	NM_002742.3(PRKD1):c.265-5T>C	Congenital heart defects and ectodermal dysplasia [RCV002495389]\|not provided [RCV000890090]	benign\|likely benign	14	29725679	29725679	Human	1	name
15124877	CV744813	single nucleotide variant	NM_002742.3(PRKD1):c.264+7C>G	not provided [RCV000896665]	likely benign	14	29927242	29927242	Human		name
15171810	CV776269	single nucleotide variant	NM_002742.3(PRKD1):c.536-8C>A	not provided [RCV000927979]	likely benign	14	29663867	29663867	Human		name
15152063	CV779877	single nucleotide variant	NM_002742.3(PRKD1):c.908-7G>A	PRKD1-related disorder [RCV003943171]\|not provided [RCV000968274]	benign\|likely benign	14	29638573	29638573	Human	1	name , trait , alternate_id
150468448	CV1267936	single nucleotide variant	NM_002742.3(PRKD1):c.265-19A>G	not provided [RCV001694799]	benign	14	29725693	29725693	Human		name
153000613	CV1683749	single nucleotide variant	NM_002742.3(PRKD1):c.1905+2T>A	Congenital heart defects and ectodermal dysplasia [RCV002254370]	likely pathogenic	14	29624150	29624150	Human	1	name
15160808	CV778186	single nucleotide variant	NM_002742.3(PRKD1):c.1191-6C>T	not provided [RCV000947558]	benign	14	29634547	29634547	Human		name
15119058	CV779710	single nucleotide variant	NM_002742.3(PRKD1):c.1315-8T>C	PRKD1-related disorder [RCV003916080]\|not provided [RCV000962485]	benign	14	29632954	29632954	Human	1	name , trait , alternate_id
15166960	CV779854	single nucleotide variant	NM_002742.3(PRKD1):c.1392+6A>G	PRKD1-related disorder [RCV003943211]\|not provided [RCV000971299]	benign\|likely benign	14	29632863	29632863	Human	1	name , trait , alternate_id
126732642	CV1021203	single nucleotide variant	NM_002742.3(PRKD1):c.2068-11C>A	Congenital heart defects and ectodermal dysplasia [RCV001334078]	uncertain significance	14	29599136	29599136	Human	1	name
151233990	CV1317957	single nucleotide variant	NM_002742.3(PRKD1):c.2435-14G>A	Congenital heart defects and ectodermal dysplasia [RCV001789594]\|not provided [RCV004715554]	benign	14	29578374	29578374	Human	1	name
151233993	CV1317959	single nucleotide variant	NM_002742.3(PRKD1):c.2167-12T>A	Congenital heart defects and ectodermal dysplasia [RCV001789596]\|not provided [RCV001823312]	benign	14	29597770	29597770	Human	1	name
151233995	CV1317960	single nucleotide variant	NM_002742.3(PRKD1):c.2166+39A>C	Congenital heart defects and ectodermal dysplasia [RCV001789597]\|not provided [RCV004715555]	benign	14	29598988	29598988	Human	1	name
405289600	CV3220813	deletion	NM_002742.3(PRKD1):c.1393-10del	PRKD1-related disorder [RCV003961844]	likely benign	14	29631031	29631031	Human		name , trait , alternate_id
8583584	CV118147	single nucleotide variant	NM_002742.2(PRKD1):c.264+5914G>T	Lung cancer [RCV000098667]	uncertain significance	14	29921335	29921335	Human		name
8583582	CV118145	single nucleotide variant	NM_002742.2(PRKD1):c.265-64449A>C	Lung cancer [RCV000098665]	uncertain significance	14	29790123	29790123	Human		name
8583583	CV118146	single nucleotide variant	NM_002742.2(PRKD1):c.264+78472T>A	Lung cancer [RCV000098666]	uncertain significance	14	29848777	29848777	Human		name
8583581	CV118144	single nucleotide variant	NM_002742.2(PRKD1):c.1905+10953A>T	Lung cancer [RCV000098664]	uncertain significance	14	29613199	29613199	Human		name
15160812	CV702853	single nucleotide variant	NM_002742.3(PRKD1):c.15G>A (p.Pro5=)	not provided [RCV000947559]	likely benign	14	29927498	29927498	Human		name
407513126	CV3464376	single nucleotide variant	NM_002742.3(PRKD1):c.7G>T (p.Ala3Ser)	not specified [RCV004648674]	uncertain significance	14	29927506	29927506	Human		name
15109753	CV784715	single nucleotide variant	NM_002742.3(PRKD1):c.57A>C (p.Ala19=)	PRKD1-related disorder [RCV003928608]\|not provided [RCV000977301]	likely benign	14	29927456	29927456	Human	1	name , trait , alternate_id
15170070	CV714101	single nucleotide variant	NM_002742.3(PRKD1):c.20T>C (p.Leu7Pro)	not provided [RCV000971941]	likely benign	14	29927493	29927493	Human		name
15173798	CV739195	single nucleotide variant	NM_002742.3(PRKD1):c.105C>T (p.Pro35=)	not provided [RCV000905895]	benign\|likely benign	14	29927408	29927408	Human		name
156244869	CV2347194	single nucleotide variant	NM_002742.3(PRKD1):c.83T>G (p.Val28Gly)	not specified [RCV004204665]	uncertain significance	14	29927430	29927430	Human		name
156277602	CV2352076	single nucleotide variant	NM_002742.3(PRKD1):c.38T>C (p.Leu13Pro)	not specified [RCV004191171]	uncertain significance	14	29927475	29927475	Human		name
401914619	CV2799301	single nucleotide variant	NM_002742.3(PRKD1):c.61G>C (p.Ala21Pro)	PRKD1-related disorder [RCV003400418]	uncertain significance	14	29927452	29927452	Human		name , trait , alternate_id
405294119	CV3203468	single nucleotide variant	NM_002742.3(PRKD1):c.327C>T (p.Thr109=)	PRKD1-related disorder [RCV003934001]	likely benign	14	29725612	29725612	Human		name , trait , alternate_id
405258395	CV3203746	single nucleotide variant	NM_002742.3(PRKD1):c.942G>A (p.Pro314=)	PRKD1-related disorder [RCV003941927]	benign	14	29638532	29638532	Human		name , trait , alternate_id
405286454	CV3205355	single nucleotide variant	NM_002742.3(PRKD1):c.59C>T (p.Ala20Val)	PRKD1-related disorder [RCV003959544]	likely benign	14	29927454	29927454	Human		name , trait , alternate_id
405257835	CV3207903	single nucleotide variant	NM_002742.3(PRKD1):c.591C>T (p.Ser197=)	PRKD1-related disorder [RCV003941379]	likely benign	14	29663804	29663804	Human		name , trait , alternate_id
616932939	CV4010431	deletion	NM_002742.3(PRKD1):c.134del (p.Pro45fs)	Congenital heart defects and ectodermal dysplasia [RCV005403776]	uncertain significance	14	29927379	29927379	Human	1	name
15200856	CV725653	single nucleotide variant	NM_002742.3(PRKD1):c.618C>T (p.Asn206=)	not provided [RCV000891027]	benign	14	29663777	29663777	Human		name
15194533	CV754018	single nucleotide variant	NM_002742.3(PRKD1):c.960C>T (p.Cys320=)	not provided [RCV000911152]	likely benign	14	29638514	29638514	Human		name
15105994	CV754019	single nucleotide variant	NM_002742.3(PRKD1):c.438C>G (p.Pro146=)	not provided [RCV000915657]	likely benign	14	29666174	29666174	Human		name
15099119	CV769786	single nucleotide variant	NM_002742.3(PRKD1):c.489T>C (p.Cys163=)	not provided [RCV000936425]	likely benign	14	29666123	29666123	Human		name
150549558	CV1295315	single nucleotide variant	NM_002742.3(PRKD1):c.271G>A (p.Glu91Lys)	not provided [RCV001765215]	uncertain significance	14	29725668	29725668	Human		name
151233991	CV1317958	single nucleotide variant	NM_002742.3(PRKD1):c.2202T>C (p.Ile734=)	Congenital heart defects and ectodermal dysplasia [RCV001789595]\|not provided [RCV001823311]	benign	14	29597723	29597723	Human	1	name
155797332	CV1860336	single nucleotide variant	NM_002742.3(PRKD1):c.208G>C (p.Gly70Arg)	not provided [RCV002466978]	uncertain significance	14	29927305	29927305	Human		name
156137817	CV2215206	single nucleotide variant	NM_002742.3(PRKD1):c.256G>T (p.Asp86Tyr)	not specified [RCV004086918]	uncertain significance	14	29927257	29927257	Human		name
156134758	CV2260206	single nucleotide variant	NM_002742.3(PRKD1):c.157C>G (p.Leu53Val)	not specified [RCV004120980]	uncertain significance	14	29927356	29927356	Human		name
329397222	CV2460038	single nucleotide variant	NM_002742.3(PRKD1):c.100G>A (p.Gly34Arg)	not specified [RCV004273164]	uncertain significance	14	29927413	29927413	Human		name
401734750	CV2690669	single nucleotide variant	NM_002742.3(PRKD1):c.103C>T (p.Pro35Ser)	not specified [RCV004298402]	uncertain significance	14	29927410	29927410	Human		name
405280703	CV3195645	single nucleotide variant	NM_002742.3(PRKD1):c.2370C>T (p.His790=)	PRKD1-related disorder [RCV003906881]	likely benign	14	29597555	29597555	Human		name , trait , alternate_id
405273471	CV3214032	single nucleotide variant	NM_002742.3(PRKD1):c.2619A>G (p.Ala873=)	PRKD1-related disorder [RCV003914749]	likely benign	14	29577358	29577358	Human		name , trait , alternate_id
405265705	CV3220840	single nucleotide variant	NM_002742.3(PRKD1):c.1626C>T (p.Pro542=)	PRKD1-related disorder [RCV003969012]	likely benign	14	29630788	29630788	Human		name , trait , alternate_id
405671130	CV3378259	single nucleotide variant	NM_002742.3(PRKD1):c.112T>G (p.Phe38Val)	not specified [RCV004515184]	uncertain significance	14	29927401	29927401	Human		name
407465328	CV3464375	single nucleotide variant	NM_002742.3(PRKD1):c.131C>T (p.Ala44Val)	not specified [RCV004660206]	uncertain significance	14	29927382	29927382	Human		name
408377934	CV3500879	single nucleotide variant	NM_002742.3(PRKD1):c.1200A>G (p.Thr400=)	not provided [RCV004722529]	likely benign	14	29634532	29634532	Human		name
408376957	CV3517552	single nucleotide variant	NM_002742.3(PRKD1):c.1938G>A (p.Glu646=)	PRKD1-related disorder [RCV004750140]	likely benign	14	29599785	29599785	Human		name , trait , alternate_id
408381422	CV3523862	single nucleotide variant	NM_002742.3(PRKD1):c.267C>A (p.Phe89Leu)	not provided [RCV004766260]	uncertain significance	14	29725672	29725672	Human		name
597779421	CV3591544	single nucleotide variant	NM_002742.3(PRKD1):c.287G>A (p.Gly96Glu)	not specified [RCV004853257]	uncertain significance	14	29725652	29725652	Human		name
597779938	CV3591549	single nucleotide variant	NM_002742.3(PRKD1):c.261G>C (p.Gln87His)	not specified [RCV004853262]	uncertain significance	14	29927252	29927252	Human		name
597845648	CV3880476	single nucleotide variant	NM_002742.3(PRKD1):c.107C>A (p.Ala36Glu)	not provided [RCV005227364]	uncertain significance	14	29927406	29927406	Human		name
617154493	CV4022442	single nucleotide variant	NM_002742.3(PRKD1):c.292T>C (p.Tyr98His)	not provided [RCV005429799]	uncertain significance	14	29725647	29725647	Human		name
13519285	CV486104	single nucleotide variant	NM_002742.3(PRKD1):c.2280C>T (p.Tyr760=)	not provided [RCV000585537]	uncertain significance	14	29597645	29597645	Human		name
15182214	CV714099	single nucleotide variant	NM_002742.3(PRKD1):c.1953G>A (p.Thr651=)	not provided [RCV000974578]	benign\|likely benign	14	29599770	29599770	Human		name
15166969	CV714100	single nucleotide variant	NM_002742.3(PRKD1):c.1356C>T (p.Thr452=)	PRKD1-related disorder [RCV003936117]\|not provided [RCV000971300]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	29632905	29632905	Human	1	name , trait , alternate_id
15108382	CV725651	single nucleotide variant	NM_002742.3(PRKD1):c.2718T>G (p.Gly906=)	not provided [RCV000893661]	benign\|likely benign	14	29577259	29577259	Human		name
15111950	CV725652	single nucleotide variant	NM_002742.3(PRKD1):c.2565C>T (p.Ile855=)	not provided [RCV000894371]	likely benign	14	29577412	29577412	Human		name
15192904	CV739190	single nucleotide variant	NM_002742.3(PRKD1):c.1420C>T (p.Leu474=)	not provided [RCV000910681]	benign	14	29630994	29630994	Human		name
15184136	CV739191	single nucleotide variant	NM_002742.3(PRKD1):c.1140C>T (p.Gly380=)	PRKD1-related disorder [RCV003902836]\|not provided [RCV000908211]	benign\|likely benign	14	29636340	29636340	Human	1	name , trait , alternate_id
15191033	CV739194	single nucleotide variant	NM_002742.3(PRKD1):c.268C>T (p.Pro90Ser)	PRKD1-related disorder [RCV003932970]\|not provided [RCV000910127]	likely benign	14	29725671	29725671	Human	1	name , trait , alternate_id
15147371	CV754017	single nucleotide variant	NM_002742.3(PRKD1):c.2208G>A (p.Glu736=)	not provided [RCV000922894]	likely benign	14	29597717	29597717	Human		name
15194968	CV769784	single nucleotide variant	NM_002742.3(PRKD1):c.2457G>A (p.Leu819=)	not provided [RCV000933798]	benign	14	29578338	29578338	Human		name
15187859	CV769785	single nucleotide variant	NM_002742.3(PRKD1):c.1776A>G (p.Gly592=)	not provided [RCV000931782]	likely benign	14	29626506	29626506	Human		name
126732634	CV1021205	duplication	NM_002742.3(PRKD1):c.1857dup (p.Pro620fs)	not provided [RCV004774973]	pathogenic\|uncertain significance	14	29624199	29624200	Human		name
126732650	CV1021207	single nucleotide variant	NM_002742.3(PRKD1):c.445C>G (p.Leu149Val)	Congenital heart defects and ectodermal dysplasia [RCV001334080]	uncertain significance	14	29666167	29666167	Human	1	name
126732647	CV1021208	single nucleotide variant	NM_002742.3(PRKD1):c.317A>G (p.His106Arg)	Congenital heart defects and ectodermal dysplasia [RCV001334079]	uncertain significance	14	29725622	29725622	Human	1	name
126911119	CV1038282	single nucleotide variant	NM_002742.3(PRKD1):c.671C>G (p.Thr224Arg)	not provided [RCV001355047]	likely benign	14	29663724	29663724	Human		name
150410514	CV1196115	single nucleotide variant	NM_002742.3(PRKD1):c.719T>G (p.Phe240Cys)	not provided [RCV001573145]\|not specified [RCV004039399]	likely benign\|uncertain significance	14	29638882	29638882	Human		name
151234741	CV1320462	single nucleotide variant	NM_002742.3(PRKD1):c.305T>C (p.Leu102Pro)	not provided [RCV001800086]	uncertain significance	14	29725634	29725634	Human		name
152981765	CV1677061	single nucleotide variant	NM_002742.3(PRKD1):c.922T>G (p.Cys308Gly)	not specified [RCV002248129]	uncertain significance	14	29638552	29638552	Human		name
153301139	CV1688985	single nucleotide variant	NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr)	Congenital heart defects and ectodermal dysplasia [RCV002266713]	uncertain significance	14	29666170	29666170	Human	1	name
155799092	CV1862329	single nucleotide variant	NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)	Congenital heart defects and ectodermal dysplasia [RCV002471734]	uncertain significance	14	29638786	29638786	Human	1	name
156335958	CV2228467	single nucleotide variant	NM_002742.3(PRKD1):c.356C>T (p.Ala119Val)	not specified [RCV004098434]	uncertain significance	14	29725583	29725583	Human		name
155949001	CV2273593	single nucleotide variant	NM_002742.3(PRKD1):c.689C>T (p.Pro230Leu)	not specified [RCV004134112]	uncertain significance	14	29663706	29663706	Human		name
155927396	CV2365919	single nucleotide variant	NM_002742.3(PRKD1):c.905A>G (p.Lys302Arg)	not specified [RCV004207534]	uncertain significance	14	29638696	29638696	Human		name
155936263	CV2379792	single nucleotide variant	NM_002742.3(PRKD1):c.379G>A (p.Asp127Asn)	not specified [RCV004219906]	uncertain significance	14	29725560	29725560	Human		name
243050969	CV2413562	single nucleotide variant	NM_002742.3(PRKD1):c.345G>C (p.Gln115His)	Congenital heart defects and ectodermal dysplasia [RCV003130336]	uncertain significance	14	29725594	29725594	Human	1	name
243049813	CV2417181	single nucleotide variant	NM_002742.3(PRKD1):c.433C>T (p.Arg145Cys)	not provided [RCV003152052]	uncertain significance	14	29666179	29666179	Human		name
329385583	CV2462065	single nucleotide variant	NM_002742.3(PRKD1):c.608G>A (p.Arg203Lys)	not specified [RCV004266102]	uncertain significance	14	29663787	29663787	Human		name
401717726	CV2706787	single nucleotide variant	NM_002742.3(PRKD1):c.591C>G (p.Ser197Arg)	not specified [RCV004319640]	uncertain significance	14	29663804	29663804	Human		name
401774815	CV2713653	single nucleotide variant	NM_002742.3(PRKD1):c.716C>T (p.Ser239Leu)	not specified [RCV004321023]	uncertain significance	14	29638885	29638885	Human		name
401907949	CV2801253	single nucleotide variant	NM_002742.3(PRKD1):c.802A>T (p.Lys268Ter)	PRKD1-related disorder [RCV003397493]	uncertain significance	14	29638799	29638799	Human		name , trait , alternate_id
401932712	CV2804420	single nucleotide variant	NM_002742.3(PRKD1):c.754T>C (p.Tyr252His)	PRKD1-related disorder [RCV003408800]\|not specified [RCV004847963]	uncertain significance	14	29638847	29638847	Human	1	name , trait , alternate_id
401910375	CV2810333	single nucleotide variant	NM_002742.3(PRKD1):c.601C>T (p.Arg201Trp)	not provided [RCV003425007]\|not specified [RCV004847964]	uncertain significance	14	29663794	29663794	Human		name
405671466	CV3377163	single nucleotide variant	NM_002742.3(PRKD1):c.607A>G (p.Arg203Gly)	not specified [RCV004515196]	uncertain significance	14	29663788	29663788	Human		name
405671456	CV3377165	single nucleotide variant	NM_002742.3(PRKD1):c.782A>G (p.Lys261Arg)	not specified [RCV004515198]	uncertain significance	14	29638819	29638819	Human		name
405671451	CV3377166	single nucleotide variant	NM_002742.3(PRKD1):c.931C>T (p.Arg311Cys)	not specified [RCV004515199]	uncertain significance	14	29638543	29638543	Human		name
405671446	CV3377167	single nucleotide variant	NM_002742.3(PRKD1):c.982G>A (p.Gly328Arg)	not specified [RCV004515200]	uncertain significance	14	29638492	29638492	Human		name
407513120	CV3464370	single nucleotide variant	NM_002742.3(PRKD1):c.668C>A (p.Ser223Tyr)	not specified [RCV004648671]	uncertain significance	14	29663727	29663727	Human		name
407465322	CV3464371	single nucleotide variant	NM_002742.3(PRKD1):c.938C>T (p.Ala313Val)	not specified [RCV004660204]	uncertain significance	14	29638536	29638536	Human		name
408377174	CV3501110	single nucleotide variant	NM_002742.3(PRKD1):c.679C>T (p.Pro227Ser)	not provided [RCV004721740]	uncertain significance	14	29663716	29663716	Human		name
408370951	CV3505873	single nucleotide variant	NM_002742.3(PRKD1):c.890A>G (p.Gln297Arg)	PRKD1-related disorder [RCV004724308]	uncertain significance	14	29638711	29638711	Human		name , trait , alternate_id
408376711	CV3515649	deletion	NM_002742.3(PRKD1):c.2671del (p.His891fs)	PRKD1-related disorder [RCV004749387]	uncertain significance	14	29577306	29577306	Human		name , trait , alternate_id
596931297	CV3531632	single nucleotide variant	NM_002742.3(PRKD1):c.565G>C (p.Ala189Pro)	not provided [RCV004781194]	uncertain significance	14	29663830	29663830	Human		name
596938537	CV3549613	single nucleotide variant	NM_002742.3(PRKD1):c.437C>T (p.Pro146Leu)	not provided [RCV004812653]	uncertain significance	14	29666175	29666175	Human		name
597779413	CV3591542	single nucleotide variant	NM_002742.3(PRKD1):c.472G>A (p.Ala158Thr)	not specified [RCV004853255]	uncertain significance	14	29666140	29666140	Human		name
12791988	CV362626	single nucleotide variant	NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)	Congenital heart defects and ectodermal dysplasia [RCV000417210]	pathogenic	14	29638705	29638705	Human	1	name
598129433	CV3888730	single nucleotide variant	NM_002742.3(PRKD1):c.628A>G (p.Thr210Ala)	not provided [RCV005244904]	uncertain significance	14	29663767	29663767	Human		name
598246697	CV3904503	single nucleotide variant	NM_002742.3(PRKD1):c.563G>T (p.Cys188Phe)	not specified [RCV005258527]	uncertain significance	14	29663832	29663832	Human		name
598246736	CV3904509	single nucleotide variant	NM_002742.3(PRKD1):c.751T>C (p.Ser251Pro)	not specified [RCV005258532]	uncertain significance	14	29638850	29638850	Human		name
15161318	CV739193	single nucleotide variant	NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly)	Premature ovarian failure [RCV001002742]\|not provided [RCV000903323]	likely benign\|uncertain significance	14	29663749	29663749	Human	2	name
15149667	CV754020	single nucleotide variant	NM_002742.3(PRKD1):c.316C>T (p.His106Tyr)	not provided [RCV000923330]\|not specified [RCV004029489]	likely benign\|uncertain significance	14	29725623	29725623	Human		name
40814779	CV970993	single nucleotide variant	NM_002742.3(PRKD1):c.496A>G (p.Met166Val)	Congenital heart defects and ectodermal dysplasia [RCV001262271]	uncertain significance	14	29666116	29666116	Human	1	name
126732637	CV1021204	single nucleotide variant	NM_002742.3(PRKD1):c.1947T>G (p.Phe649Leu)	Congenital heart defects and ectodermal dysplasia [RCV001334077]	uncertain significance	14	29599776	29599776	Human	1	name
126732632	CV1021206	single nucleotide variant	NM_002742.3(PRKD1):c.1322G>A (p.Arg441Gln)	Congenital heart defects and ectodermal dysplasia [RCV001334075]	uncertain significance	14	29632939	29632939	Human	1	name
127261269	CV1080473	single nucleotide variant	NM_002742.3(PRKD1):c.1627G>A (p.Val543Ile)	not provided [RCV001402380]	likely benign	14	29630787	29630787	Human		name
127300237	CV1123717	single nucleotide variant	NM_002742.3(PRKD1):c.1477G>A (p.Glu493Lys)	not provided [RCV001453811]	likely benign	14	29630937	29630937	Human		name
152981764	CV1677060	single nucleotide variant	NM_002742.3(PRKD1):c.2443C>G (p.Leu815Val)	not specified [RCV002248128]	uncertain significance	14	29578352	29578352	Human		name
153346775	CV1691135	single nucleotide variant	NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter)	Congenital heart defects and ectodermal dysplasia [RCV002272616]	uncertain significance	14	29577351	29577351	Human	1	name
153348508	CV1692545	single nucleotide variant	NM_002742.3(PRKD1):c.2134G>A (p.Val712Met)	Neurodevelopmental delay [RCV002274399]	likely pathogenic	14	29599059	29599059	Human	1	name
153349435	CV1693314	single nucleotide variant	NM_002742.3(PRKD1):c.1213C>G (p.Pro405Ala)	not provided [RCV002275838]	uncertain significance	14	29634519	29634519	Human		name
9686916	CV171546	single nucleotide variant	NM_002742.3(PRKD1):c.1993G>A (p.Asp665Asn)	Prostate cancer [RCV000149135]	uncertain significance	14	29599730	29599730	Human	2	name
155714600	CV1760363	single nucleotide variant	NM_002742.3(PRKD1):c.2173C>T (p.Leu725Phe)	not provided [RCV002300870]	uncertain significance	14	29597752	29597752	Human		name
155800995	CV1861145	single nucleotide variant	NM_002742.3(PRKD1):c.1754C>T (p.Pro585Leu)	Congenital heart defects and ectodermal dysplasia [RCV002468860]	benign	14	29626528	29626528	Human	1	name
155798680	CV1862113	single nucleotide variant	NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)	Congenital heart defects and ectodermal dysplasia [RCV002471516]	uncertain significance	14	29624183	29624183	Human	1	name
156353307	CV1985820	single nucleotide variant	NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)	Congenital heart defects and ectodermal dysplasia [RCV003134464]\|not provided [RCV002632140]	pathogenic\|uncertain significance	14	29624249	29624249	Human	1	name
10058664	CV199894	single nucleotide variant	NM_002742.3(PRKD1):c.1852C>T (p.Arg618Ter)	not provided [RCV000185634]	uncertain significance	14	29624205	29624205	Human		name
156365268	CV2193165	single nucleotide variant	NM_002742.3(PRKD1):c.1882C>T (p.Arg628Cys)	not specified [RCV004071161]	uncertain significance	14	29624175	29624175	Human		name
156369899	CV2194115	single nucleotide variant	NM_002742.3(PRKD1):c.1284G>T (p.Trp428Cys)	not specified [RCV004076871]	uncertain significance	14	29634448	29634448	Human		name
155980129	CV2211895	single nucleotide variant	NM_002742.3(PRKD1):c.2573G>A (p.Arg858His)	not specified [RCV004087028]	uncertain significance	14	29577404	29577404	Human		name
155954622	CV2274353	single nucleotide variant	NM_002742.3(PRKD1):c.1009T>C (p.Ser337Pro)	not specified [RCV004136737]	uncertain significance	14	29636471	29636471	Human		name
156288170	CV2327388	single nucleotide variant	NM_002742.3(PRKD1):c.1897A>G (p.Ile633Val)	not specified [RCV004174814]	uncertain significance	14	29624160	29624160	Human		name
156155466	CV2328772	single nucleotide variant	NM_002742.3(PRKD1):c.1609C>A (p.Gln537Lys)	not specified [RCV004177997]	uncertain significance	14	29630805	29630805	Human		name
156088006	CV2337086	single nucleotide variant	NM_002742.3(PRKD1):c.1270A>G (p.Met424Val)	not specified [RCV003396848]	uncertain significance	14	29634462	29634462	Human		name
156067365	CV2356662	single nucleotide variant	NM_002742.3(PRKD1):c.1438T>C (p.Ser480Pro)	not provided [RCV003427652]\|not specified [RCV004202024]	uncertain significance	14	29630976	29630976	Human		name
156200296	CV2362933	single nucleotide variant	NM_002742.3(PRKD1):c.1648G>A (p.Val550Met)	not specified [RCV004209035]	uncertain significance	14	29630766	29630766	Human		name
156390440	CV2373401	single nucleotide variant	NM_002742.3(PRKD1):c.1168G>A (p.Glu390Lys)	not specified [RCV004220102]	uncertain significance	14	29636312	29636312	Human		name
155902251	CV2378462	single nucleotide variant	NM_002742.3(PRKD1):c.1128G>T (p.Gln376His)	not specified [RCV004228520]	uncertain significance	14	29636352	29636352	Human		name
156169949	CV2380541	single nucleotide variant	NM_002742.3(PRKD1):c.1088C>T (p.Ala363Val)	not specified [RCV004224865]	uncertain significance	14	29636392	29636392	Human		name
156214452	CV2385920	single nucleotide variant	NM_002742.3(PRKD1):c.1487C>T (p.Thr496Met)	not specified [RCV004226958]	uncertain significance	14	29630927	29630927	Human		name
155967571	CV2391360	single nucleotide variant	NM_002742.3(PRKD1):c.2453A>G (p.Asn818Ser)	not specified [RCV004239766]	uncertain significance	14	29578342	29578342	Human		name
243059643	CV2413561	single nucleotide variant	NM_002742.3(PRKD1):c.1061G>A (p.Ser354Asn)	Congenital heart defects and ectodermal dysplasia [RCV003135139]	uncertain significance	14	29636419	29636419	Human	1	name
243059644	CV2413563	single nucleotide variant	NM_002742.3(PRKD1):c.1585G>A (p.Ala529Thr)	Congenital heart defects and ectodermal dysplasia [RCV003135140]\|not specified [RCV004246049]	uncertain significance	14	29630829	29630829	Human	1	name
329375923	CV2441203	single nucleotide variant	NM_002742.3(PRKD1):c.1080G>C (p.Met360Ile)	not specified [RCV004263599]	uncertain significance	14	29636400	29636400	Human		name
329397257	CV2460074	single nucleotide variant	NM_002742.3(PRKD1):c.2154T>G (p.Asp718Glu)	not specified [RCV004273195]	uncertain significance	14	29599039	29599039	Human		name
329370311	CV2461672	single nucleotide variant	NM_002742.3(PRKD1):c.1304A>G (p.Lys435Arg)	not specified [RCV004269834]	uncertain significance	14	29634428	29634428	Human		name
329846914	CV2534235	single nucleotide variant	NM_002742.3(PRKD1):c.2015C>T (p.Ser672Leu)	not provided [RCV003228442]	uncertain significance	14	29599708	29599708	Human		name
401723458	CV2737832	single nucleotide variant	NM_002742.3(PRKD1):c.1792T>G (p.Tyr598Asp)	not provided [RCV003315004]	uncertain significance	14	29626490	29626490	Human		name
401798741	CV2739463	single nucleotide variant	NM_002742.3(PRKD1):c.2498C>A (p.Thr833Asn)	not provided [RCV003319111]	uncertain significance	14	29578297	29578297	Human		name
401857499	CV2750488	single nucleotide variant	NM_002742.3(PRKD1):c.1114A>G (p.Met372Val)	not provided [RCV003334161]	likely benign	14	29636366	29636366	Human		name
401897577	CV2787160	single nucleotide variant	NM_002742.3(PRKD1):c.1921G>A (p.Gly641Ser)	not specified [RCV004360585]	uncertain significance	14	29599802	29599802	Human		name
401919295	CV2794842	single nucleotide variant	NM_002742.3(PRKD1):c.1570G>A (p.Val524Ile)	not specified [RCV003388517]	uncertain significance	14	29630844	29630844	Human		name
401905157	CV2800449	single nucleotide variant	NM_002742.3(PRKD1):c.1633C>T (p.Pro545Ser)	PRKD1-related disorder [RCV003420732]	uncertain significance	14	29630781	29630781	Human		name , trait , alternate_id
401910372	CV2810330	single nucleotide variant	NM_002742.3(PRKD1):c.2672A>G (p.His891Arg)	not provided [RCV003425004]	benign	14	29577305	29577305	Human		name
401910373	CV2810331	single nucleotide variant	NM_002742.3(PRKD1):c.2195G>A (p.Arg732Gln)	not provided [RCV003425005]	uncertain significance	14	29597730	29597730	Human		name
401910374	CV2810332	single nucleotide variant	NM_002742.3(PRKD1):c.1651G>A (p.Gly551Ser)	not provided [RCV003425006]	uncertain significance	14	29630763	29630763	Human		name
405287732	CV3208122	single nucleotide variant	NM_002742.3(PRKD1):c.2564T>A (p.Ile855Asn)	PRKD1-related disorder [RCV003924572]	likely benign	14	29577413	29577413	Human		name , trait , alternate_id
405285807	CV3221623	single nucleotide variant	NM_002742.3(PRKD1):c.1808G>T (p.Arg603Leu)	PRKD1-related disorder [RCV003981333]	uncertain significance	14	29624249	29624249	Human		name , trait , alternate_id
405671173	CV3377160	single nucleotide variant	NM_002742.3(PRKD1):c.2291T>G (p.Leu764Arg)	not specified [RCV004515193]	uncertain significance	14	29597634	29597634	Human		name
405671476	CV3377161	single nucleotide variant	NM_002742.3(PRKD1):c.2522A>T (p.Asp841Val)	not specified [RCV004515194]	uncertain significance	14	29577455	29577455	Human		name
405671471	CV3377162	single nucleotide variant	NM_002742.3(PRKD1):c.2623G>A (p.Glu875Lys)	not specified [RCV004515195]	uncertain significance	14	29577354	29577354	Human		name
405671135	CV3378260	single nucleotide variant	NM_002742.3(PRKD1):c.1137T>G (p.Ser379Arg)	not specified [RCV004515185]	uncertain significance	14	29636343	29636343	Human		name
405671141	CV3378261	single nucleotide variant	NM_002742.3(PRKD1):c.1301G>C (p.Ser434Thr)	not specified [RCV004515186]	uncertain significance	14	29634431	29634431	Human		name
405671147	CV3378262	single nucleotide variant	NM_002742.3(PRKD1):c.2005A>G (p.Met669Val)	not specified [RCV004515187]	uncertain significance	14	29599718	29599718	Human		name
405671156	CV3378264	single nucleotide variant	NM_002742.3(PRKD1):c.2102A>G (p.Asn701Ser)	not specified [RCV004515189]	uncertain significance	14	29599091	29599091	Human		name
405671160	CV3378265	single nucleotide variant	NM_002742.3(PRKD1):c.2182T>C (p.Phe728Leu)	not specified [RCV004515190]	uncertain significance	14	29597743	29597743	Human		name
405671165	CV3378266	single nucleotide variant	NM_002742.3(PRKD1):c.2270A>G (p.Asn757Ser)	not specified [RCV004515191]	uncertain significance	14	29597655	29597655	Human		name
405671169	CV3378267	single nucleotide variant	NM_002742.3(PRKD1):c.2284C>T (p.Arg762Cys)	not specified [RCV004515192]	uncertain significance	14	29597641	29597641	Human		name
407465326	CV3464372	single nucleotide variant	NM_002742.3(PRKD1):c.1486A>G (p.Thr496Ala)	not specified [RCV004660205]	uncertain significance	14	29630928	29630928	Human		name
407513122	CV3464373	single nucleotide variant	NM_002742.3(PRKD1):c.1723G>A (p.Val575Met)	not specified [RCV004648672]	uncertain significance	14	29629043	29629043	Human		name
407465332	CV3464377	single nucleotide variant	NM_002742.3(PRKD1):c.1763T>G (p.Val588Gly)	not specified [RCV004660207]	uncertain significance	14	29626519	29626519	Human		name
408371054	CV3504735	single nucleotide variant	NM_002742.3(PRKD1):c.1609C>T (p.Gln537Ter)	PRKD1-related disorder [RCV004724422]	uncertain significance	14	29630805	29630805	Human		name , trait , alternate_id
408387476	CV3518864	single nucleotide variant	NM_002742.3(PRKD1):c.2071C>T (p.Leu691Phe)	not provided [RCV004761183]	uncertain significance	14	29599122	29599122	Human		name
596930218	CV3531433	single nucleotide variant	NM_002742.3(PRKD1):c.1670A>T (p.His557Leu)	not provided [RCV004780007]	uncertain significance	14	29630744	29630744	Human		name
597648490	CV3551726	single nucleotide variant	NM_002742.3(PRKD1):c.1051G>A (p.Glu351Lys)	not provided [RCV004820439]	uncertain significance	14	29636429	29636429	Human		name
597651560	CV3552017	single nucleotide variant	NM_002742.3(PRKD1):c.1493A>G (p.Asn498Ser)	not provided [RCV004820730]	uncertain significance	14	29630921	29630921	Human		name
597656260	CV3552257	single nucleotide variant	NM_002742.3(PRKD1):c.2576A>G (p.Tyr859Cys)	Congenital heart defects and ectodermal dysplasia [RCV004821115]	likely benign	14	29577401	29577401	Human	1	name
597779417	CV3591543	single nucleotide variant	NM_002742.3(PRKD1):c.1441G>C (p.Ala481Pro)	not specified [RCV004853256]	uncertain significance	14	29630973	29630973	Human		name
597779954	CV3591545	single nucleotide variant	NM_002742.3(PRKD1):c.1952C>T (p.Thr651Met)	not specified [RCV004853258]	uncertain significance	14	29599771	29599771	Human		name
597779951	CV3591546	single nucleotide variant	NM_002742.3(PRKD1):c.2429A>C (p.His810Pro)	not specified [RCV004853259]	uncertain significance	14	29597496	29597496	Human		name
597779946	CV3591547	single nucleotide variant	NM_002742.3(PRKD1):c.2030G>A (p.Arg677Lys)	not specified [RCV004853260]	uncertain significance	14	29599693	29599693	Human		name
597779943	CV3591548	single nucleotide variant	NM_002742.3(PRKD1):c.2704A>C (p.Met902Leu)	not specified [RCV004853261]	uncertain significance	14	29577273	29577273	Human		name
597779929	CV3591551	single nucleotide variant	NM_002742.3(PRKD1):c.2620G>T (p.Gly874Cys)	not specified [RCV004853264]	uncertain significance	14	29577357	29577357	Human		name
597779925	CV3591552	single nucleotide variant	NM_002742.3(PRKD1):c.1079T>C (p.Met360Thr)	not specified [RCV004853265]	uncertain significance	14	29636401	29636401	Human		name
12791985	CV362625	single nucleotide variant	NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)	Congenital heart defects and ectodermal dysplasia [RCV000417214]	pathogenic	14	29626508	29626508	Human	1	name
597871506	CV3880836	single nucleotide variant	NM_002742.3(PRKD1):c.2479C>T (p.Arg827Cys)	Congenital heart defects and ectodermal dysplasia [RCV005215814]	uncertain significance	14	29578316	29578316	Human	1	name
598203003	CV3904505	single nucleotide variant	NM_002742.3(PRKD1):c.1984C>T (p.Leu662Phe)	not specified [RCV005269306]	uncertain significance	14	29599739	29599739	Human		name
598246711	CV3904506	single nucleotide variant	NM_002742.3(PRKD1):c.1638G>C (p.Lys546Asn)	not specified [RCV005258529]	uncertain significance	14	29630776	29630776	Human		name
598246720	CV3904507	single nucleotide variant	NM_002742.3(PRKD1):c.1066C>G (p.Leu356Val)	not specified [RCV005258530]	uncertain significance	14	29636414	29636414	Human		name
598246727	CV3904508	single nucleotide variant	NM_002742.3(PRKD1):c.2492A>C (p.Asp831Ala)	not specified [RCV005258531]	uncertain significance	14	29578303	29578303	Human		name
598246741	CV3904510	single nucleotide variant	NM_002742.3(PRKD1):c.1357C>T (p.Leu453Phe)	not specified [RCV005258533]	uncertain significance	14	29632904	29632904	Human		name
598246749	CV3904511	single nucleotide variant	NM_002742.3(PRKD1):c.1841T>C (p.Ile614Thr)	not specified [RCV005258534]	likely pathogenic	14	29624216	29624216	Human		name
598246754	CV3904512	single nucleotide variant	NM_002742.3(PRKD1):c.1069A>G (p.Met357Val)	not specified [RCV005258535]	uncertain significance	14	29636411	29636411	Human		name
598210838	CV4008070	single nucleotide variant	NM_002742.3(PRKD1):c.1181G>A (p.Arg394Lys)	Congenital heart defects and ectodermal dysplasia [RCV005400384]	uncertain significance	14	29636299	29636299	Human	1	name
598210843	CV4008071	single nucleotide variant	NM_002742.3(PRKD1):c.2705T>C (p.Met902Thr)	Congenital heart defects and ectodermal dysplasia [RCV005400385]	uncertain significance	14	29577272	29577272	Human	1	name
616934462	CV4012467	single nucleotide variant	NM_002742.3(PRKD1):c.1495G>A (p.Val499Ile)	not specified [RCV005409504]	uncertain significance	14	29630919	29630919	Human		name
616940207	CV4014716	single nucleotide variant	NM_002742.3(PRKD1):c.1925T>A (p.Val642Asp)	not provided [RCV005414210]	uncertain significance	14	29599798	29599798	Human		name
617149300	CV4017473	single nucleotide variant	NM_002742.3(PRKD1):c.1799G>T (p.Gly600Val)	not provided [RCV005417131]	uncertain significance	14	29624258	29624258	Human		name
617150660	CV4018871	single nucleotide variant	NM_002742.3(PRKD1):c.2572C>T (p.Arg858Cys)	not provided [RCV005423279]	uncertain significance	14	29577405	29577405	Human		name
13462161	CV439250	single nucleotide variant	NM_002742.3(PRKD1):c.2422A>G (p.Ile808Val)	PRKD1-related disorder [RCV003942679]\|not provided [RCV000513822]	benign\|likely benign	14	29597503	29597503	Human	1	name , trait , alternate_id
15139267	CV714098	single nucleotide variant	NM_002742.3(PRKD1):c.2657A>G (p.Asn886Ser)	PRKD1-related disorder [RCV003916200]\|not provided [RCV000965935]	benign	14	29577320	29577320	Human	1	name , trait , alternate_id
15184131	CV739189	single nucleotide variant	NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr)	Congenital heart defects and ectodermal dysplasia [RCV002479044]\|not provided [RCV000908210]	likely benign	14	29630973	29630973	Human	1	name
15176140	CV739192	single nucleotide variant	NM_002742.3(PRKD1):c.1021A>C (p.Met341Leu)	PRKD1-related disorder [RCV003950666]\|not provided [RCV000906367]	benign\|likely benign	14	29636459	29636459	Human	1	name , trait , alternate_id
15139839	CV754016	single nucleotide variant	NM_002742.3(PRKD1):c.2335G>A (p.Gly779Ser)	not provided [RCV000921578]	likely benign	14	29597590	29597590	Human		name
15099430	CV769783	single nucleotide variant	NM_002742.3(PRKD1):c.2723G>A (p.Arg908His)	not provided [RCV000936479]	likely benign	14	29577254	29577254	Human		name
21072578	CV791399	single nucleotide variant	NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)	Congenital heart defects and ectodermal dysplasia [RCV000989200]	likely pathogenic	14	29632945	29632945	Human	1	name
38463043	CV919526	single nucleotide variant	NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)	Congenital heart defects and ectodermal dysplasia [RCV001198618]\|not specified [RCV004033480]	uncertain significance	14	29630958	29630958	Human	1	name
126729610	CV985899	single nucleotide variant	NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln)	Congenital heart defects and ectodermal dysplasia [RCV001293861]	uncertain significance	14	29597706	29597706	Human	1	name
408370369	CV3503051	duplication	NM_002742.3(PRKD1):c.604_607dup (p.Arg203fs)	not provided [RCV004724172]	uncertain significance	14	29663787	29663788	Human		name
243050922	CV2419716	microsatellite	NM_002742.3(PRKD1):c.1923TGT[1] (p.Val643del)	not provided [RCV003156648]	uncertain significance	14	29599795	29599797	Human		name
15186583	CV702852	duplication	NM_002742.3(PRKD1):c.91_96dup (p.Ser31_Gly32dup)	not provided [RCV000953327]	benign	14	29927416	29927417	Human		name
408376577	CV3514955	deletion	NM_002742.3(PRKD1):c.1225del (p.Arg408_Val409insTer)	PRKD1-related disorder [RCV004749293]	uncertain significance	14	29634507	29634507	Human		name , trait , alternate_id

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