PRKCH[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 151066	GRCh38/hg38 14q23.1(chr14:61139770-61309705)x1	LOC126861961, LOC126861962 +4 more	Copy number loss	See cases	GUncertain significance
Select item 3327068	NM_001017970.3(TMEM30B):c.1042G>A (p.Asp348Asn)	PRKCH, TMEM30B (D348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357776	NM_001017970.3(TMEM30B):c.1032C>A (p.Asp344Glu)	PRKCH, TMEM30B (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327072	NM_001017970.3(TMEM30B):c.932G>A (p.Gly311Asp)	PRKCH, TMEM30B (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608307	NM_001017970.3(TMEM30B):c.912C>A (p.Phe304Leu)	PRKCH, TMEM30B (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179434	NM_001017970.3(TMEM30B):c.898A>C (p.Lys300Gln)	PRKCH, TMEM30B (K300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492774	NM_001017970.3(TMEM30B):c.892G>A (p.Gly298Ser)	PRKCH, TMEM30B (G298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594543	NM_001017970.3(TMEM30B):c.844G>T (p.Ala282Ser)	PRKCH, TMEM30B (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681613	NM_001017970.3(TMEM30B):c.836C>T (p.Pro279Leu)	PRKCH, TMEM30B (P279L)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2363182	NM_001017970.3(TMEM30B):c.827C>T (p.Ala276Val)	PRKCH, TMEM30B (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179433	NM_001017970.3(TMEM30B):c.806T>G (p.Ile269Ser)	PRKCH, TMEM30B (I269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179432	NM_001017970.3(TMEM30B):c.790A>G (p.Lys264Glu)	PRKCH, TMEM30B (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279888	NM_001017970.3(TMEM30B):c.782C>G (p.Thr261Arg)	PRKCH, TMEM30B (T261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399222	NM_001017970.3(TMEM30B):c.773C>T (p.Ala258Val)	PRKCH, TMEM30B (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600811	NM_001017970.3(TMEM30B):c.740A>G (p.Asn247Ser)	PRKCH, TMEM30B (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179431	NM_001017970.3(TMEM30B):c.679C>T (p.Pro227Ser)	PRKCH, TMEM30B (P227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327071	NM_001017970.3(TMEM30B):c.640G>T (p.Gly214Cys)	PRKCH, TMEM30B (G214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179430	NM_001017970.3(TMEM30B):c.637A>G (p.Asn213Asp)	PRKCH, TMEM30B (N213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179429	NM_001017970.3(TMEM30B):c.629C>T (p.Pro210Leu)	PRKCH, TMEM30B (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547077	NM_001017970.3(TMEM30B):c.551G>A (p.Gly184Glu)	PRKCH, TMEM30B (G184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224404	NM_001017970.3(TMEM30B):c.538C>T (p.Arg180Cys)	PRKCH, TMEM30B (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569570	NM_001017970.3(TMEM30B):c.532C>T (p.His178Tyr)	PRKCH, TMEM30B (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327069	NM_001017970.3(TMEM30B):c.461C>T (p.Ala154Val)	PRKCH, TMEM30B (A154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489024	NM_001017970.3(TMEM30B):c.457A>T (p.Ser153Cys)	PRKCH, TMEM30B (S153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326840	NM_001017970.3(TMEM30B):c.446C>T (p.Pro149Leu)	PRKCH, TMEM30B (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179428	NM_001017970.3(TMEM30B):c.407T>G (p.Leu136Arg)	PRKCH, TMEM30B (L136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608306	NM_001017970.3(TMEM30B):c.398T>C (p.Leu133Pro)	PRKCH, TMEM30B (L133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179427	NM_001017970.3(TMEM30B):c.349T>C (p.Phe117Leu)	PRKCH, TMEM30B (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250561	NM_001017970.3(TMEM30B):c.342G>A (p.Leu114=)	PRKCH, TMEM30B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179426	NM_001017970.3(TMEM30B):c.334T>G (p.Tyr112Asp)	PRKCH, TMEM30B (Y112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408620	NM_001017970.3(TMEM30B):c.334T>C (p.Tyr112His)	PRKCH, TMEM30B (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179425	NM_001017970.3(TMEM30B):c.314A>G (p.Gln105Arg)	PRKCH, TMEM30B (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334740	NM_001017970.3(TMEM30B):c.283G>A (p.Ala95Thr)	PRKCH, TMEM30B (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301708	NM_001017970.3(TMEM30B):c.190G>C (p.Glu64Gln)	PRKCH, TMEM30B (E64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327070	NM_001017970.3(TMEM30B):c.160T>C (p.Tyr54His)	PRKCH, TMEM30B (Y54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403894	NM_001017970.3(TMEM30B):c.146T>G (p.Leu49Arg)	PRKCH, TMEM30B (L49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366324	NM_001017970.3(TMEM30B):c.124G>T (p.Ala42Ser)	PRKCH, TMEM30B (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179424	NM_001017970.3(TMEM30B):c.19G>A (p.Ala7Thr)	PRKCH, TMEM30B (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218776	NM_006255.5(PRKCH):c.107A>G (p.Lys36Arg)	PRKCH, PRKCH-AS1 (K36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218777	NM_006255.5(PRKCH):c.118C>G (p.Leu40Val)	PRKCH, PRKCH-AS1 (L40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218781	NM_006255.5(PRKCH):c.153G>C (p.Gln51His)	PRKCH, PRKCH-AS1 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977099	NM_006255.5(PRKCH):c.164G>C (p.Gly55Ala)	PRKCH, PRKCH-AS1 (G55A)	Single nucleotide variant (missense variant)	Ischemic stroke	GUncertain significance
Select item 2310542	NM_006255.5(PRKCH):c.194A>G (p.Lys65Arg)	PRKCH, PRKCH-AS1 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218784	NM_006255.5(PRKCH):c.199A>G (p.Thr67Ala)	PRKCH, PRKCH-AS1 (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303284	NM_006255.5(PRKCH):c.328C>T (p.Arg110Cys)	PRKCH, PRKCH-AS1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218785	NM_006255.5(PRKCH):c.347A>G (p.Asp116Gly)	PRKCH, PRKCH-AS1 (D116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204324	NM_006255.5(PRKCH):c.445C>T (p.Arg149Trp)	PRKCH (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218786	NM_006255.5(PRKCH):c.628G>A (p.Val210Ile)	PRKCH (V210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309996	NM_006255.5(PRKCH):c.886G>T (p.Gly296Trp)	PRKCH (G296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458178	NM_006255.5(PRKCH):c.937C>G (p.Pro313Ala)	PRKCH (P313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218787	NM_006255.5(PRKCH):c.959C>T (p.Ser320Leu)	PRKCH (S320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397227	NM_006255.5(PRKCH):c.964C>T (p.Leu322Phe)	PRKCH (L322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609681	NM_006255.5(PRKCH):c.986G>A (p.Arg329Lys)	PRKCH (R329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218775	NM_006255.5(PRKCH):c.1006A>G (p.Ser336Gly)	PRKCH (S336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233102	NM_006255.5(PRKCH):c.1030G>A (p.Val344Ile)	PRKCH (V344I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615609	NM_006255.5(PRKCH):c.1031T>G (p.Val344Gly)	PRKCH (V344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533487	NM_006255.5(PRKCH):c.1051G>A (p.Gly351Ser)	PRKCH (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216328	NM_006255.5(PRKCH):c.1059C>A (p.Asp353Glu)	PRKCH (D353E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776844	NM_006255.5(PRKCH):c.1105-9T>C	LOC132090228, PRKCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2341842	NM_006255.5(PRKCH):c.1118G>C (p.Arg373Thr)	LOC132090228, PRKCH (R373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4991	NM_006255.5(PRKCH):c.1120G>A (p.Val374Ile)	LOC132090228, PRKCH (V374I)	Single nucleotide variant (missense variant)	Cerebral infarction, susceptibility to	Grisk factor
Select item 3218778	NM_006255.5(PRKCH):c.1214G>A (p.Arg405Lys)	PRKCH (R405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290910	NM_006255.5(PRKCH):c.1282C>T (p.Arg428Cys)	PRKCH (R428C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218779	NM_006255.5(PRKCH):c.1333A>G (p.Ile445Val)	PRKCH (I445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768657	NM_006255.5(PRKCH):c.1335T>A (p.Ile445=)	PRKCH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334542	NM_006255.5(PRKCH):c.1349G>A (p.Arg450His)	PRKCH (R450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309995	NM_006255.5(PRKCH):c.1354G>A (p.Asp452Asn)	PRKCH (D452N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234964	NM_006255.5(PRKCH):c.1357G>A (p.Glu453Lys)	PRKCH (E453K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218780	NM_006255.5(PRKCH):c.1369C>T (p.Arg457Cys)	PRKCH (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309993	NM_006255.5(PRKCH):c.1394C>T (p.Ser465Leu)	PRKCH (S465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492253	NM_006255.5(PRKCH):c.1402A>G (p.Met468Val)	PRKCH (M468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523249	NM_006255.5(PRKCH):c.1403T>C (p.Met468Thr)	PRKCH (M468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219064	NM_006255.5(PRKCH):c.1468G>A (p.Glu490Lys)	PRKCH (E490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218782	NM_006255.5(PRKCH):c.1649G>T (p.Gly550Val)	PRKCH (G550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714551	NM_006255.5(PRKCH):c.1753C>T (p.Leu585=)	PRKCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599922	NM_006255.5(PRKCH):c.1818C>G (p.His606Gln)	PRKCH (H606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047670	NM_006255.5(PRKCH):c.1834C>T (p.Pro612Ser)	PRKCH (P612S)	Single nucleotide variant (missense variant)	PRKCH-related disorder	GLikely benign
Select item 3218783	NM_006255.5(PRKCH):c.1859C>T (p.Ala620Val)	PRKCH (A620V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217703	NM_006255.5(PRKCH):c.1993A>G (p.Met665Val)	PRKCH (M665V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519978	NM_006255.5(PRKCH):c.2010G>C (p.Glu670Asp)	PRKCH (E670D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 973046	GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)	HIF1A, HIF1A-AS2 +4 more	Copy number gain	not provided	Gnot provided
Select item 684991	GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3	HIF1A, HIF1A-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 684448	Single allele	HIF1A, HIF1A-AS2 +4 more	Duplication	not provided	Gnot provided
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442265	GRCh37/hg19 14q23.1(chr14:61678546-61984823)x1	PRKCH, TMEM30B	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 100