ClinVar for Gene (Select 9651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307395	NM_014638.4(PLCH2):c.3652G>A (p.Glu1218Lys)	PLCH2 (E1218K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307394	NM_014638.4(PLCH2):c.1928T>G (p.Met643Arg)	PLCH2 (M643R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307393	NM_014638.4(PLCH2):c.3566C>G (p.Ala1189Gly)	PLCH2 (A1189G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307392	NM_014638.4(PLCH2):c.3958A>G (p.Ser1320Gly)	PLCH2 (S1320G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307391	NM_014638.4(PLCH2):c.779C>G (p.Ala260Gly)	PLCH2 (A260G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307390	NM_014638.4(PLCH2):c.379G>A (p.Gly127Ser)	PLCH2 (G147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307389	NM_014638.4(PLCH2):c.3227C>T (p.Thr1076Met)	PLCH2 (T1076M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307388	NM_014638.4(PLCH2):c.2143C>T (p.Arg715Trp)	PLCH2 (R688W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3214587	NM_014638.4(PLCH2):c.935C>T (p.Pro312Leu)	PLCH2 (P332L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214586	NM_014638.4(PLCH2):c.893G>A (p.Gly298Glu)	PLCH2 (G298E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214585	NM_014638.4(PLCH2):c.835G>A (p.Glu279Lys)	PLCH2 (E299K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214584	NM_014638.4(PLCH2):c.818T>C (p.Met273Thr)	PLCH2 (M246T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214583	NM_014638.4(PLCH2):c.674C>T (p.Thr225Met)	PLCH2 (T198M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214582	NM_014638.4(PLCH2):c.624G>C (p.Gln208His)	PLCH2 (Q181H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214581	NM_014638.4(PLCH2):c.4153G>A (p.Val1385Met)	PLCH2 (V1385M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214580	NM_014638.4(PLCH2):c.4109G>C (p.Gly1370Ala)	PLCH2 (G1370A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214579	NM_014638.4(PLCH2):c.4040G>A (p.Arg1347His)	PLCH2 (R1347H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214578	NM_014638.4(PLCH2):c.3950C>T (p.Ser1317Leu)	PLCH2 (S1317L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214577	NM_014638.4(PLCH2):c.3901G>C (p.Glu1301Gln)	PLCH2 (E1301Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214576	NM_014638.4(PLCH2):c.3713G>A (p.Gly1238Asp)	PLCH2 (G1238D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214575	NM_014638.4(PLCH2):c.3623C>T (p.Ala1208Val)	PLCH2 (A1208V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214574	NM_014638.4(PLCH2):c.3610C>T (p.Pro1204Ser)	PLCH2 (P1204S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214573	NM_014638.4(PLCH2):c.3604T>A (p.Ser1202Thr)	PLCH2 (S1202T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214572	NM_014638.4(PLCH2):c.3509A>G (p.Glu1170Gly)	PLCH2 (E1170G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214571	NM_014638.4(PLCH2):c.3506G>A (p.Arg1169His)	PLCH2 (R1169H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214570	NM_014638.4(PLCH2):c.3416A>G (p.His1139Arg)	PLCH2 (H1139R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214569	NM_014638.4(PLCH2):c.3367G>A (p.Asp1123Asn)	PLCH2 (D1123N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214568	NM_014638.4(PLCH2):c.3181G>A (p.Gly1061Ser)	PLCH2 (G1061S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214567	NM_014638.4(PLCH2):c.3113G>A (p.Gly1038Glu)	PLCH2 (G1038E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214566	NM_014638.4(PLCH2):c.2995C>G (p.Pro999Ala)	PLCH2 (P1011R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3214565	NM_014638.4(PLCH2):c.2978C>T (p.Thr993Met)	PLCH2 (T993M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3214564	NM_014638.4(PLCH2):c.2950A>C (p.Ser984Arg)	PLCH2 (S957R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214562	NM_014638.4(PLCH2):c.2883C>A (p.Asp961Glu)	PLCH2 (D934E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214560	NM_014638.4(PLCH2):c.2771G>A (p.Arg924Gln)	PLCH2 (R944Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214559	NM_014638.4(PLCH2):c.2417G>A (p.Arg806His)	PLCH2 (R779H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214558	NM_014638.4(PLCH2):c.2260G>A (p.Gly754Arg)	PLCH2 (G774R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214557	NM_014638.4(PLCH2):c.220C>T (p.His74Tyr)	PLCH2 (H94Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214556	NM_014638.4(PLCH2):c.2014C>T (p.Arg672Cys)	PLCH2 (R672C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214555	NM_014638.4(PLCH2):c.1798G>A (p.Asp600Asn)	PLCH2 (D620N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214553	NM_014638.4(PLCH2):c.1655G>A (p.Arg552His)	PLCH2 (R525H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214552	NM_014638.4(PLCH2):c.1639T>C (p.Ser547Pro)	PLCH2 (S567P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214551	NM_014638.4(PLCH2):c.1489G>C (p.Asp497His)	PLCH2 (D517H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214550	NM_014638.4(PLCH2):c.1489G>A (p.Asp497Asn)	PLCH2 (D497N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214549	NM_014638.4(PLCH2):c.1136A>G (p.Asp379Gly)	PLCH2 (D399G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638084	NM_014638.4(PLCH2):c.4088T>G (p.Leu1363Arg)	PLCH2 (L1363R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2638083	NM_014638.4(PLCH2):c.3609C>T (p.Asn1203=)	PLCH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2638082	NM_014638.4(PLCH2):c.2959+323C>T	PLCH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638081	NM_014638.4(PLCH2):c.2484G>A (p.Pro828=)	LOC126805580, PLCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638080	NM_014638.4(PLCH2):c.2181C>T (p.Asn727=)	PLCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638079	NM_014638.4(PLCH2):c.895C>T (p.Leu299=)	PLCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622766	NM_014638.4(PLCH2):c.176G>A (p.Arg59His)	PLCH2 (R32H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615901	NM_014638.4(PLCH2):c.3818C>T (p.Ser1273Phe)	PLCH2 (S1273F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2610101	NM_014638.4(PLCH2):c.2857G>A (p.Asp953Asn)	PLCH2 (D973N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603237	NM_014638.4(PLCH2):c.175C>T (p.Arg59Cys)	PLCH2 (R79C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600844	NM_014638.4(PLCH2):c.620G>A (p.Arg207Gln)	PLCH2 (R180Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597853	NM_014638.4(PLCH2):c.59C>T (p.Ala20Val)	PLCH2 (A20V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596960	NM_014638.4(PLCH2):c.1380G>T (p.Gln460His)	PLCH2 (Q433H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595835	NM_014638.4(PLCH2):c.1870C>T (p.Arg624Trp)	PLCH2 (R597W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592639	NM_014638.4(PLCH2):c.2917G>A (p.Glu973Lys)	PLCH2 (E973K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592638	NM_014638.4(PLCH2):c.1517C>T (p.Ala506Val)	PLCH2 (A479V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591551	NM_014638.4(PLCH2):c.1838C>T (p.Ala613Val)	PLCH2 (A586V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2569018	NM_014638.4(PLCH2):c.3859C>T (p.Arg1287Trp)	PLCH2 (R1287W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2561951	NM_014638.4(PLCH2):c.2550G>C (p.Gln850His)	LOC126805580, PLCH2 (Q823H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556883	NM_014638.4(PLCH2):c.1937C>T (p.Ala646Val)	PLCH2 (A619V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555512	NM_014638.4(PLCH2):c.892G>A (p.Gly298Arg)	PLCH2 (G271R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552625	NM_014638.4(PLCH2):c.1748G>A (p.Arg583His)	PLCH2 (R556H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548555	NM_014638.4(PLCH2):c.1817C>G (p.Pro606Arg)	PLCH2 (P606R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538582	NM_014638.4(PLCH2):c.3559G>A (p.Ala1187Thr)	PLCH2 (A1187T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531123	NM_014638.4(PLCH2):c.1687G>A (p.Gly563Arg)	PLCH2 (G583R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528751	NM_014638.4(PLCH2):c.3821G>A (p.Arg1274His)	PLCH2 (R1274H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519319	NM_014638.4(PLCH2):c.22C>T (p.Pro8Ser)	PLCH2 (P8S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518352	NM_014638.4(PLCH2):c.909T>G (p.Asp303Glu)	PLCH2 (D323E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518051	NM_014638.4(PLCH2):c.2932G>C (p.Glu978Gln)	PLCH2 (E951Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517710	NM_014638.4(PLCH2):c.2000C>T (p.Pro667Leu)	PLCH2 (P640L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2483899	NM_014638.4(PLCH2):c.3754G>A (p.Ala1252Thr)	PLCH2 (A1252T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2479046	NM_014638.4(PLCH2):c.1927A>C (p.Met643Leu)	PLCH2 (M616L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477071	NM_014638.4(PLCH2):c.600G>C (p.Lys200Asn)	PLCH2 (K173N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475126	NM_014638.4(PLCH2):c.2198T>G (p.Val733Gly)	PLCH2 (V706G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466144	NM_014638.4(PLCH2):c.1583C>T (p.Ser528Leu)	PLCH2 (S528L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461055	NM_014638.4(PLCH2):c.2941G>A (p.Gly981Ser)	PLCH2 (G1001S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455927	NM_014638.4(PLCH2):c.2144G>A (p.Arg715Gln)	PLCH2 (R715Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455207	NM_014638.4(PLCH2):c.3205G>A (p.Glu1069Lys)	PLCH2 (E1069K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411760	NM_014638.4(PLCH2):c.3991G>A (p.Gly1331Ser)	PLCH2 (G1331S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405563	NM_014638.4(PLCH2):c.2855G>A (p.Arg952Gln)	PLCH2 (R925Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398205	NM_014638.4(PLCH2):c.2953C>T (p.Pro985Ser)	PLCH2 (P958S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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