PLCB2[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 2327469	NM_004573.3(PLCB2):c.3514G>A (p.Asp1172Asn)	PLCB2 (D1157N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247937	NM_004573.3(PLCB2):c.3400C>G (p.Leu1134Val)	PLCB2 (L1130V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214391	NM_004573.3(PLCB2):c.3368C>T (p.Ala1123Val)	PLCB2 (A1108V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510252	NM_004573.3(PLCB2):c.3304G>A (p.Glu1102Lys)	PLCB2 (E1102K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280848	NM_004573.3(PLCB2):c.3290A>C (p.His1097Pro)	PLCB2 (H1093P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214390	NM_004573.3(PLCB2):c.3168G>T (p.Gln1056His)	PLCB2 (Q1041H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332567	NM_004573.3(PLCB2):c.3161G>A (p.Arg1054Gln)	PLCB2 (R1039Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778527	NM_004573.3(PLCB2):c.3113+10C>T	PLCB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2353367	NM_004573.3(PLCB2):c.3092C>T (p.Ala1031Val)	PLCB2 (A1027V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480541	NM_004573.3(PLCB2):c.3040A>G (p.Ile1014Val)	PLCB2 (I1010V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214389	NM_004573.3(PLCB2):c.2912A>C (p.Glu971Ala)	PLCB2 (E956A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214388	NM_004573.3(PLCB2):c.2893G>A (p.Ala965Thr)	PLCB2 (A950T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280193	NM_004573.3(PLCB2):c.2889G>C (p.Glu963Asp)	PLCB2 (E948D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596624	NM_004573.3(PLCB2):c.2867A>C (p.Lys956Thr)	PLCB2 (K952T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230159	NM_004573.3(PLCB2):c.2803G>C (p.Gly935Arg)	PLCB2 (G920R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255591	NM_004573.3(PLCB2):c.2780G>T (p.Gly927Val)	PLCB2 (G912V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214387	NM_004573.3(PLCB2):c.2644G>A (p.Ala882Thr)	PLCB2 (A882T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511125	NM_004573.3(PLCB2):c.2614G>T (p.Gly872Trp)	PLCB2 (G868W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 254113	NM_004573.3(PLCB2):c.2585C>A (p.Thr862Lys)	PLCB2 (T862K +1 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2481095	NM_004573.3(PLCB2):c.2522C>T (p.Pro841Leu)	PLCB2 (P841L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795986	NM_004573.3(PLCB2):c.2516del (p.Gly839fs)	PLCB2 (G835fs +1 more)	Deletion (frameshift variant)	not provided	GBenign
Select item 2361753	NM_004573.3(PLCB2):c.2488T>A (p.Ser830Thr)	PLCB2 (S826T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592836	NM_004573.3(PLCB2):c.2381C>T (p.Ala794Val)	PLCB2 (A790V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489094	NM_004573.3(PLCB2):c.2105A>G (p.Tyr702Cys)	PLCB2 (Y702C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595932	NM_004573.3(PLCB2):c.2095G>A (p.Val699Met)	PLCB2 (V695M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454692	NM_004573.3(PLCB2):c.2090G>A (p.Arg697His)	PLCB2 (R693H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507643	NM_004573.3(PLCB2):c.2060C>T (p.Thr687Met)	PLCB2 (T683M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214383	NM_004573.3(PLCB2):c.2023C>G (p.Arg675Gly)	PLCB2 (R675G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391542	NM_004573.3(PLCB2):c.1987C>T (p.Arg663Trp)	PLCB2 (R659W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529647	NM_004573.3(PLCB2):c.1928T>C (p.Met643Thr)	PLCB2 (M639T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664759	NM_004573.3(PLCB2):c.1907-5T>G	PLCB2	Single nucleotide variant (intron variant)	Thrombocytopenia	GUncertain significance
Select item 733612	NM_004573.3(PLCB2):c.1746T>C (p.Tyr582=)	PLCB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776873	NM_004573.3(PLCB2):c.1722G>A (p.Ser574=)	PLCB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3214381	NM_004573.3(PLCB2):c.1706G>T (p.Arg569Leu)	PLCB2 (R565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349239	NM_004573.3(PLCB2):c.1682T>A (p.Phe561Tyr)	PLCB2 (F561Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214380	NM_004573.3(PLCB2):c.1607C>T (p.Ala536Val)	PLCB2 (A532V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386362	NM_004573.3(PLCB2):c.1592C>T (p.Ser531Leu)	PLCB2 (S527L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211857	NM_004573.3(PLCB2):c.1507A>G (p.Thr503Ala)	PLCB2 (T499A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214379	NM_004573.3(PLCB2):c.1489T>C (p.Trp497Arg)	PLCB2 (W493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304158	NM_004573.3(PLCB2):c.1432G>A (p.Gly478Ser)	PLCB2 (G478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727553	NM_004573.3(PLCB2):c.1412C>T (p.Thr471Ile)	PLCB2 (T471I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3214376	NM_004573.3(PLCB2):c.1321C>T (p.Pro441Ser)	PLCB2 (P441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410578	NM_004573.3(PLCB2):c.1306C>A (p.Pro436Thr)	PLCB2 (P436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341738	NM_004573.3(PLCB2):c.1277C>T (p.Thr426Met)	PLCB2 (T426M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254112	NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg)	PLCB2 (K385R)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2276045	NM_004573.3(PLCB2):c.1101C>G (p.Asp367Glu)	PLCB2 (D367E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491062	NM_004573.3(PLCB2):c.1046T>C (p.Leu349Pro)	PLCB2 (L349P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769411	NM_004573.3(PLCB2):c.936C>G (p.His312Gln)	PLCB2 (H312Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2293924	NM_004573.3(PLCB2):c.817A>G (p.Lys273Glu)	PLCB2 (K273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508781	NM_004573.3(PLCB2):c.814G>T (p.Asp272Tyr)	PLCB2 (D272Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262572	NM_004573.3(PLCB2):c.590C>T (p.Ala197Val)	PLCB2 (A197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606181	NM_004573.3(PLCB2):c.553C>T (p.Leu185Phe)	PLCB2 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255082	NM_004573.3(PLCB2):c.497C>T (p.Pro166Leu)	PLCB2 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214392	NM_004573.3(PLCB2):c.437C>T (p.Thr146Ile)	PLCB2 (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274051	NM_004573.3(PLCB2):c.410C>T (p.Pro137Leu)	PLCB2 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397101	NM_004573.3(PLCB2):c.314C>T (p.Pro105Leu)	PLCB2 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374730	NM_004573.3(PLCB2):c.257A>C (p.Asn86Thr)	PLCB2 (N86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214386	NM_004573.3(PLCB2):c.248A>G (p.Asp83Gly)	PLCB2 (D83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214385	NM_004573.3(PLCB2):c.245G>A (p.Arg82Gln)	PLCB2 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327247	NM_004573.3(PLCB2):c.244C>T (p.Arg82Trp)	PLCB2 (R82W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269561	NM_004573.3(PLCB2):c.193C>T (p.Arg65Trp)	PLCB2 (R65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523975	NM_004573.3(PLCB2):c.149C>T (p.Thr50Met)	PLCB2 (T50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214378	NM_004573.3(PLCB2):c.142T>C (p.Tyr48His)	PLCB2 (Y48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248593	NM_004573.3(PLCB2):c.64C>T (p.Arg22Cys)	PLCB2 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458633	NM_004573.3(PLCB2):c.17C>T (p.Pro6Leu)	PLCB2 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic

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Items: 75