5335[geneid] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3214512	NM_002660.3(PLCG1):c.73C>T (p.Leu25Phe)	PLCG1, PLCG1-AS1 (L25F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3214501	NM_002660.3(PLCG1):c.190C>T (p.Arg64Trp)	PLCG1, PLCG1-AS1 (R64W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537064	NM_002660.3(PLCG1):c.227G>T (p.Arg76Leu)	PLCG1 (R76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214506	NM_002660.3(PLCG1):c.332A>G (p.Tyr111Cys)	PLCG1 (Y111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214510	NM_002660.3(PLCG1):c.436C>G (p.Gln146Glu)	PLCG1 (Q146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538779	NM_002660.3(PLCG1):c.500A>G (p.Asn167Ser)	PLCG1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214511	NM_002660.3(PLCG1):c.589C>T (p.Arg197Trp)	PLCG1 (R197W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289357	NM_002660.3(PLCG1):c.703G>A (p.Ala235Thr)	PLCG1 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555542	NM_002660.3(PLCG1):c.762C>G (p.Phe254Leu)	PLCG1 (F254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525716	NM_002660.3(PLCG1):c.762C>A (p.Phe254Leu)	PLCG1 (F254L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214513	NM_002660.3(PLCG1):c.766C>A (p.Gln256Lys)	PLCG1 (Q256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214514	NM_002660.3(PLCG1):c.968A>G (p.Asn323Ser)	PLCG1 (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411397	NM_002660.3(PLCG1):c.1186A>G (p.Thr396Ala)	PLCG1 (T396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214499	NM_002660.3(PLCG1):c.1294G>C (p.Val432Leu)	PLCG1 (V432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549588	NM_002660.3(PLCG1):c.1373A>G (p.Lys458Arg)	PLCG1 (K458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290445	NM_002660.3(PLCG1):c.1574G>T (p.Ser525Ile)	PLCG1 (S525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406913	NM_002660.3(PLCG1):c.1607A>G (p.Lys536Arg)	PLCG1 (K536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305818	NM_002660.3(PLCG1):c.1640A>G (p.Asn547Ser)	PLCG1 (N547S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3031039	NM_002660.3(PLCG1):c.1673G>A (p.Gly558Glu)	PLCG1 (G558E)	Single nucleotide variant (missense variant)	PLCG1-related disorder	GUncertain significance
Select item 2570198	NM_002660.3(PLCG1):c.1807G>A (p.Gly603Arg)	PLCG1 (G603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241981	NM_002660.3(PLCG1):c.1825C>T (p.Arg609Cys)	PLCG1 (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789125	NM_002660.3(PLCG1):c.1851G>A (p.Gly617=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3049849	NM_002660.3(PLCG1):c.1903C>G (p.Leu635Val)	PLCG1 (L635V)	Single nucleotide variant (missense variant)	PLCG1-related disorder	GUncertain significance
Select item 3214502	NM_002660.3(PLCG1):c.1913A>G (p.His638Arg)	PLCG1 (H638R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238232	NM_002660.3(PLCG1):c.2021C>G (p.Thr674Ser)	PLCG1 (T674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214503	NM_002660.3(PLCG1):c.2053G>C (p.Val685Leu)	PLCG1 (V685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362755	NM_002660.3(PLCG1):c.2053G>A (p.Val685Ile)	PLCG1 (V685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762508	NM_002660.3(PLCG1):c.2238A>G (p.Leu746=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556023	NM_002660.3(PLCG1):c.2407A>G (p.Lys803Glu)	PLCG1 (K803E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652324	NM_002660.3(PLCG1):c.2445C>T (p.Ser815=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713391	NM_002660.3(PLCG1):c.2553C>T (p.Asn851=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369950	NM_002660.3(PLCG1):c.2557G>A (p.Val853Met)	PLCG1 (V853M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214504	NM_002660.3(PLCG1):c.2623G>T (p.Val875Phe)	PLCG1 (V875F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214505	NM_002660.3(PLCG1):c.2656C>T (p.Arg886Cys)	PLCG1 (R886C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405290	NM_002660.3(PLCG1):c.2746C>G (p.Gln916Glu)	PLCG1 (Q916E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740295	NM_002660.3(PLCG1):c.2799A>C (p.Ala933=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580883	NM_002660.3(PLCG1):c.3062C>T (p.Ser1021Phe)	PLCG1	Single nucleotide variant (missense variant)	Immune dysregulation, autoimmunity, and autoinflammation	GPathogenic
Select item 2280534	NM_002660.3(PLCG1):c.3167C>G (p.Thr1056Arg)	PLCG1 (T1056R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331433	NM_002660.3(PLCG1):c.3356C>A (p.Ala1119Asp)	PLCG1 (A1119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490253	NM_002660.3(PLCG1):c.3367A>G (p.Ser1123Gly)	PLCG1 (S1123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240727	NM_002660.3(PLCG1):c.3415G>T (p.Val1139Leu)	PLCG1 (V1139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981840	NM_002660.3(PLCG1):c.3446T>C (p.Ile1149Thr)	PLCG1 (I1149T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2352894	NM_002660.3(PLCG1):c.3625A>G (p.Ile1209Val)	PLCG1 (I1209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214507	NM_002660.3(PLCG1):c.3680C>T (p.Thr1227Met)	PLCG1 (T1226M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539056	NM_002660.3(PLCG1):c.3688C>T (p.Arg1230Trp)	PLCG1 (R1230W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509345	NM_002660.3(PLCG1):c.3737G>A (p.Arg1246Gln)	PLCG1 (R1245Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214508	NM_002660.3(PLCG1):c.3766C>A (p.Gln1256Lys)	PLCG1 (Q1255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219723	NM_002660.3(PLCG1):c.3770C>T (p.Pro1257Leu)	PLCG1 (P1256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214509	NM_002660.3(PLCG1):c.3784C>T (p.Arg1262Cys)	PLCG1 (R1262C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388482	NM_002660.3(PLCG1):c.3830G>T (p.Arg1277Leu)	PLCG1 (R1276L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 55