"Ambry Genetics"[submitter] AND "PLCH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2312089	NM_014638.4(PLCH2):c.7G>T (p.Gly3Cys)	PLCH2 (G3C)	Single nucleotide variant (5 prime UTR variant +2 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 2395342	NM_014638.4(PLCH2):c.31C>T (p.Arg11Trp)	PLCH2 (R11W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	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 2238453	NM_014638.4(PLCH2):c.118C>G (p.Pro40Ala)	PLCH2 (P40A)	Single nucleotide variant (5 prime UTR variant +2 more)	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 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 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 2227863	NM_014638.4(PLCH2):c.277A>G (p.Ile93Val)	PLCH2 (I113V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351733	NM_014638.4(PLCH2):c.349G>A (p.Asp117Asn)	PLCH2 (D117N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363367	NM_014638.4(PLCH2):c.393G>T (p.Glu131Asp)	PLCH2 (E151D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382219	NM_014638.4(PLCH2):c.395C>T (p.Ser132Leu)	PLCH2 (S132L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392665	NM_014638.4(PLCH2):c.451C>T (p.Arg151Cys)	PLCH2 (R171C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220215	NM_014638.4(PLCH2):c.452G>T (p.Arg151Leu)	PLCH2 (R151L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225722	NM_014638.4(PLCH2):c.494G>A (p.Arg165His)	PLCH2 (R185H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372918	NM_014638.4(PLCH2):c.553G>A (p.Gly185Arg)	PLCH2 (G185R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388186	NM_014638.4(PLCH2):c.565C>A (p.Leu189Met)	PLCH2 (L162M +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 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 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 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 2335832	NM_014638.4(PLCH2):c.691T>C (p.Phe231Leu)	PLCH2 (F204L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381252	NM_014638.4(PLCH2):c.694T>C (p.Cys232Arg)	PLCH2 (C232R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372385	NM_014638.4(PLCH2):c.710T>C (p.Met237Thr)	PLCH2 (M210T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286509	NM_014638.4(PLCH2):c.736C>G (p.Leu246Val)	PLCH2 (L219V +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 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 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 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 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 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 2356755	NM_014638.4(PLCH2):c.1135G>A (p.Asp379Asn)	PLCH2 (D379N +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 2327142	NM_014638.4(PLCH2):c.1277T>A (p.Ile426Asn)	PLCH2 (I446N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206859	NM_014638.4(PLCH2):c.1303C>G (p.Leu435Val)	PLCH2 (L408V +2 more)	Single nucleotide variant (missense variant)	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 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 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 2245414	NM_014638.4(PLCH2):c.1575C>G (p.Ile525Met)	PLCH2 (I545M +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 2268763	NM_014638.4(PLCH2):c.1633T>A (p.Ser545Thr)	PLCH2 (S518T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2225996	NM_014638.4(PLCH2):c.1654C>T (p.Arg552Cys)	PLCH2 (R572C +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 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 2346751	NM_014638.4(PLCH2):c.1699G>A (p.Gly567Arg)	PLCH2 (G587R +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 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 2327048	NM_014638.4(PLCH2):c.1814C>G (p.Ser605Cys)	PLCH2 (S578C +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 2392489	NM_014638.4(PLCH2):c.1817C>T (p.Pro606Leu)	PLCH2 (P579L +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 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 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 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 2382451	NM_014638.4(PLCH2):c.1955C>T (p.Ser652Leu)	PLCH2 (S652L +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 2369676	NM_014638.4(PLCH2):c.2003C>T (p.Ala668Val)	PLCH2 (A641V +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 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 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 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 2359055	NM_014638.4(PLCH2):c.2386C>T (p.Leu796Phe)	PLCH2 (L796F +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 2320966	NM_014638.4(PLCH2):c.2483C>T (p.Pro828Leu)	LOC126805580, PLCH2 (P828L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561951	NM_014638.4(PLCH2):c.2550G>C (p.Gln850His)	PLCH2, LOC126805580 (Q823H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328098	NM_014638.4(PLCH2):c.2681T>C (p.Leu894Pro)	PLCH2 (L867P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245753	NM_014638.4(PLCH2):c.2752C>T (p.Arg918Trp)	PLCH2 (R938W +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 2290834	NM_014638.4(PLCH2):c.2779C>T (p.Arg927Trp)	PLCH2 (R900W +2 more)	Single nucleotide variant (missense variant)	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 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 2208733	NM_014638.4(PLCH2):c.2876T>C (p.Val959Ala)	PLCH2 (V979A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2351371	NM_014638.4(PLCH2):c.2915C>T (p.Pro972Leu)	PLCH2 (P992L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2350826	NM_014638.4(PLCH2):c.2920G>A (p.Ala974Thr)	PLCH2 (A974T +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 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 2207759	NM_014638.4(PLCH2):c.2945G>C (p.Ser982Thr)	PLCH2 (S982T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2398205	NM_014638.4(PLCH2):c.2953C>T (p.Pro985Ser)	PLCH2 (P958S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2303945	NM_014638.4(PLCH2):c.2996C>A (p.Pro999Gln)	PLCH2 (P999Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2257606	NM_014638.4(PLCH2):c.3059C>G (p.Ala1020Gly)	PLCH2 (A1020G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	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 2266785	NM_014638.4(PLCH2):c.3170G>A (p.Arg1057Gln)	PLCH2 (R1057Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
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 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 2396571	NM_014638.4(PLCH2):c.3217G>A (p.Gly1073Ser)	PLCH2 (G1073S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2219348	NM_014638.4(PLCH2):c.3247C>T (p.Arg1083Trp)	PLCH2 (R1083W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	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 2362491	NM_014638.4(PLCH2):c.3397C>T (p.Arg1133Trp)	PLCH2 (R1133W)	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

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