ClinVar for Gene (Select 5583) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3327071	NM_001017970.3(TMEM30B):c.640G>T (p.Gly214Cys)	PRKCH, TMEM30B (G214C)	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 3327069	NM_001017970.3(TMEM30B):c.461C>T (p.Ala154Val)	PRKCH, TMEM30B (A154V)	Single nucleotide variant (missense variant)	not specified	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 3309996	NM_006255.5(PRKCH):c.886G>T (p.Gly296Trp)	PRKCH (G296W)	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 3309993	NM_006255.5(PRKCH):c.1394C>T (p.Ser465Leu)	PRKCH (S465L)	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 3218787	NM_006255.5(PRKCH):c.959C>T (p.Ser320Leu)	PRKCH (S320L)	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 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 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 3218783	NM_006255.5(PRKCH):c.1859C>T (p.Ala620Val)	PRKCH (A620V)	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 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 3218780	NM_006255.5(PRKCH):c.1369C>T (p.Arg457Cys)	PRKCH (R457C)	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 3218778	NM_006255.5(PRKCH):c.1214G>A (p.Arg405Lys)	PRKCH (R405K)	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 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 3218775	NM_006255.5(PRKCH):c.1006A>G (p.Ser336Gly)	PRKCH (S336G)	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 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 3179431	NM_001017970.3(TMEM30B):c.679C>T (p.Pro227Ser)	PRKCH, TMEM30B (P227S)	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 3179428	NM_001017970.3(TMEM30B):c.407T>G (p.Leu136Arg)	PRKCH, TMEM30B (L136R)	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 3179426	NM_001017970.3(TMEM30B):c.334T>G (p.Tyr112Asp)	PRKCH, TMEM30B (Y112D)	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 3179424	NM_001017970.3(TMEM30B):c.19G>A (p.Ala7Thr)	PRKCH, TMEM30B (A7T)	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 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 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 2615609	NM_006255.5(PRKCH):c.1031T>G (p.Val344Gly)	PRKCH (V344G)	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 2608307	NM_001017970.3(TMEM30B):c.912C>A (p.Phe304Leu)	PRKCH, TMEM30B (F304L)	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 2600811	NM_001017970.3(TMEM30B):c.740A>G (p.Asn247Ser)	PRKCH, TMEM30B (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2594543	NM_001017970.3(TMEM30B):c.844G>T (p.Ala282Ser)	PRKCH, TMEM30B (A282S)	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 2547077	NM_001017970.3(TMEM30B):c.551G>A (p.Gly184Glu)	PRKCH, TMEM30B (G184E)	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 2523249	NM_006255.5(PRKCH):c.1403T>C (p.Met468Thr)	PRKCH (M468T)	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 2492774	NM_001017970.3(TMEM30B):c.892G>A (p.Gly298Ser)	PRKCH, TMEM30B (G298S)	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 2489024	NM_001017970.3(TMEM30B):c.457A>T (p.Ser153Cys)	PRKCH, TMEM30B (S153C)	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 2408620	NM_001017970.3(TMEM30B):c.334T>C (p.Tyr112His)	PRKCH, TMEM30B (Y112H)	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 2399222	NM_001017970.3(TMEM30B):c.773C>T (p.Ala258Val)	PRKCH, TMEM30B (A258V)	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 2366324	NM_001017970.3(TMEM30B):c.124G>T (p.Ala42Ser)	PRKCH, TMEM30B (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2357776	NM_001017970.3(TMEM30B):c.1032C>A (p.Asp344Glu)	PRKCH, TMEM30B (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2334740	NM_001017970.3(TMEM30B):c.283G>A (p.Ala95Thr)	PRKCH, TMEM30B (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2326840	NM_001017970.3(TMEM30B):c.446C>T (p.Pro149Leu)	PRKCH, TMEM30B (P149L)	Single nucleotide variant (missense variant)	not specified	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 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 2301708	NM_001017970.3(TMEM30B):c.190G>C (p.Glu64Gln)	PRKCH, TMEM30B (E64Q)	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 2279888	NM_001017970.3(TMEM30B):c.782C>G (p.Thr261Arg)	PRKCH, TMEM30B (T261R)	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 2233102	NM_006255.5(PRKCH):c.1030G>A (p.Val344Ile)	PRKCH (V344I)	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 2219064	NM_006255.5(PRKCH):c.1468G>A (p.Glu490Lys)	PRKCH (E490K)	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 2216328	NM_006255.5(PRKCH):c.1059C>A (p.Asp353Glu)	PRKCH (D353E)	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 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 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 973046	GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)	HIF1A, HIF1A-AS2 +4 more	Copy number gain	not provided	Gnot provided
Select item 776844	NM_006255.5(PRKCH):c.1105-9T>C	LOC132090228, PRKCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768657	NM_006255.5(PRKCH):c.1335T>A (p.Ile445=)	PRKCH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714551	NM_006255.5(PRKCH):c.1753C>T (p.Leu585=)	PRKCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 151066	GRCh38/hg38 14q23.1(chr14:61139770-61309705)x1	LOC126861961, LOC126861962 +4 more	Copy number loss	See cases	GUncertain significance
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 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 4991	NM_006255.5(PRKCH):c.1120G>A (p.Val374Ile)	LOC132090228, PRKCH (V374I)	Single nucleotide variant (missense variant)	Cerebral infarction, susceptibility to	Grisk factor

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100