ClinVar for Gene (Select 9651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC129929105, LOC129929106 +2149 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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2610101	NM_014638.4(PLCH2):c.2857G>A (p.Asp953Asn)	PLCH2 (D973N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603237	NM_014638.4(PLCH2):c.175C>T (p.Arg59Cys)	PLCH2 (R79C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600844	NM_014638.4(PLCH2):c.620G>A (p.Arg207Gln)	PLCH2 (R180Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2596960	NM_014638.4(PLCH2):c.1380G>T (p.Gln460His)	PLCH2 (Q433H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595835	NM_014638.4(PLCH2):c.1870C>T (p.Arg624Trp)	PLCH2 (R597W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592639	NM_014638.4(PLCH2):c.2917G>A (p.Glu973Lys)	PLCH2 (E973K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592638	NM_014638.4(PLCH2):c.1517C>T (p.Ala506Val)	PLCH2 (A479V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591551	NM_014638.4(PLCH2):c.1838C>T (p.Ala613Val)	PLCH2 (A586V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +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)	Inborn genetic diseases	GUncertain significance
Select item 2561951	NM_014638.4(PLCH2):c.2550G>C (p.Gln850His)	PLCH2, LOC126805580 (Q823H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556883	NM_014638.4(PLCH2):c.1937C>T (p.Ala646Val)	PLCH2 (A619V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2555512	NM_014638.4(PLCH2):c.892G>A (p.Gly298Arg)	PLCH2 (G271R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552625	NM_014638.4(PLCH2):c.1748G>A (p.Arg583His)	PLCH2 (R556H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548555	NM_014638.4(PLCH2):c.1817C>G (p.Pro606Arg)	PLCH2 (P606R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2531123	NM_014638.4(PLCH2):c.1687G>A (p.Gly563Arg)	PLCH2 (G583R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2518352	NM_014638.4(PLCH2):c.909T>G (p.Asp303Glu)	PLCH2 (D323E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518051	NM_014638.4(PLCH2):c.2932G>C (p.Glu978Gln)	PLCH2 (E951Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517710	NM_014638.4(PLCH2):c.2000C>T (p.Pro667Leu)	PLCH2 (P640L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2479046	NM_014638.4(PLCH2):c.1927A>C (p.Met643Leu)	PLCH2 (M616L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477071	NM_014638.4(PLCH2):c.600G>C (p.Lys200Asn)	PLCH2 (K173N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475126	NM_014638.4(PLCH2):c.2198T>G (p.Val733Gly)	PLCH2 (V706G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466144	NM_014638.4(PLCH2):c.1583C>T (p.Ser528Leu)	PLCH2 (S528L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461055	NM_014638.4(PLCH2):c.2941G>A (p.Gly981Ser)	PLCH2 (G1001S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455927	NM_014638.4(PLCH2):c.2144G>A (p.Arg715Gln)	PLCH2 (R715Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2405563	NM_014638.4(PLCH2):c.2855G>A (p.Arg952Gln)	PLCH2 (R925Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398205	NM_014638.4(PLCH2):c.2953C>T (p.Pro985Ser)	PLCH2 (P958S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396571	NM_014638.4(PLCH2):c.3217G>A (p.Gly1073Ser)	PLCH2 (G1073S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2395342	NM_014638.4(PLCH2):c.31C>T (p.Arg11Trp)	PLCH2 (R11W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2392665	NM_014638.4(PLCH2):c.451C>T (p.Arg151Cys)	PLCH2 (R171C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392489	NM_014638.4(PLCH2):c.1817C>T (p.Pro606Leu)	PLCH2 (P579L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392332	NM_014638.4(PLCH2):c.4166G>A (p.Gly1389Asp)	PLCH2 (G1389D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391841	NM_014638.4(PLCH2):c.44C>T (p.Thr15Met)	PLCH2 (T15M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2391560	NM_014638.4(PLCH2):c.4244G>A (p.Arg1415His)	PLCH2 (R1415H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388186	NM_014638.4(PLCH2):c.565C>A (p.Leu189Met)	PLCH2 (L162M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383596	NM_014638.4(PLCH2):c.3089G>A (p.Arg1030Gln)	PLCH2 (R1030Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382451	NM_014638.4(PLCH2):c.1955C>T (p.Ser652Leu)	PLCH2 (S652L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382219	NM_014638.4(PLCH2):c.395C>T (p.Ser132Leu)	PLCH2 (S132L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381252	NM_014638.4(PLCH2):c.694T>C (p.Cys232Arg)	PLCH2 (C232R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379509	NM_014638.4(PLCH2):c.4052G>A (p.Ser1351Asn)	PLCH2 (S1351N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376924	NM_014638.4(PLCH2):c.4054C>T (p.Arg1352Trp)	PLCH2 (R1352W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372926	NM_014638.4(PLCH2):c.4055G>A (p.Arg1352Gln)	PLCH2 (R1352Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372918	NM_014638.4(PLCH2):c.553G>A (p.Gly185Arg)	PLCH2 (G185R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372385	NM_014638.4(PLCH2):c.710T>C (p.Met237Thr)	PLCH2 (M210T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369676	NM_014638.4(PLCH2):c.2003C>T (p.Ala668Val)	PLCH2 (A641V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368936	NM_014638.4(PLCH2):c.3911G>A (p.Arg1304His)	PLCH2 (R1304H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363367	NM_014638.4(PLCH2):c.393G>T (p.Glu131Asp)	PLCH2 (E151D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362491	NM_014638.4(PLCH2):c.3397C>T (p.Arg1133Trp)	PLCH2 (R1133W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360907	NM_014638.4(PLCH2):c.4138G>A (p.Glu1380Lys)	PLCH2 (E1380K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359055	NM_014638.4(PLCH2):c.2386C>T (p.Leu796Phe)	PLCH2 (L796F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356755	NM_014638.4(PLCH2):c.1135G>A (p.Asp379Asn)	PLCH2 (D379N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351733	NM_014638.4(PLCH2):c.349G>A (p.Asp117Asn)	PLCH2 (D117N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351371	NM_014638.4(PLCH2):c.2915C>T (p.Pro972Leu)	PLCH2 (P992L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2350826	NM_014638.4(PLCH2):c.2920G>A (p.Ala974Thr)	PLCH2 (A974T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346751	NM_014638.4(PLCH2):c.1699G>A (p.Gly567Arg)	PLCH2 (G587R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338904	NM_014638.4(PLCH2):c.3830G>A (p.Ser1277Asn)	PLCH2 (S1277N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335832	NM_014638.4(PLCH2):c.691T>C (p.Phe231Leu)	PLCH2 (F204L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328864	NM_014638.4(PLCH2):c.3328C>T (p.Pro1110Ser)	PLCH2 (P1110S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328098	NM_014638.4(PLCH2):c.2681T>C (p.Leu894Pro)	PLCH2 (L867P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327594	NM_014638.4(PLCH2):c.3499C>T (p.Arg1167Cys)	PLCH2 (R1167C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327142	NM_014638.4(PLCH2):c.1277T>A (p.Ile426Asn)	PLCH2 (I446N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327048	NM_014638.4(PLCH2):c.1814C>G (p.Ser605Cys)	PLCH2 (S578C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322660	NM_014638.4(PLCH2):c.3751G>A (p.Ala1251Thr)	PLCH2 (A1251T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320966	NM_014638.4(PLCH2):c.2483C>T (p.Pro828Leu)	LOC126805580, PLCH2 (P828L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312089	NM_014638.4(PLCH2):c.7G>T (p.Gly3Cys)	PLCH2 (G3C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303945	NM_014638.4(PLCH2):c.2996C>A (p.Pro999Gln)	PLCH2 (P999Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2295409	NM_014638.4(PLCH2):c.3248G>A (p.Arg1083Gln)	PLCH2 (R1083Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293481	NM_014638.4(PLCH2):c.3635G>A (p.Arg1212Gln)	PLCH2 (R1212Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293176	NM_014638.4(PLCH2):c.3655C>A (p.Leu1219Met)	PLCH2 (L1219M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292388	NM_014638.4(PLCH2):c.3444C>G (p.Ser1148Arg)	PLCH2 (S1148R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290834	NM_014638.4(PLCH2):c.2779C>T (p.Arg927Trp)	PLCH2 (R900W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286509	NM_014638.4(PLCH2):c.736C>G (p.Leu246Val)	PLCH2 (L219V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268763	NM_014638.4(PLCH2):c.1633T>A (p.Ser545Thr)	PLCH2 (S518T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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