ClinVar for Gene (Select 5335) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353519	NM_002660.3(PLCG1):c.2412C>T (p.Ala804=)	PLCG1	Single nucleotide variant (synonymous variant)	PLCG1-related disorder	GLikely benign
Select item 3352182	NM_002660.3(PLCG1):c.3366C>T (p.Asp1122=)	PLCG1	Single nucleotide variant (synonymous variant)	PLCG1-related disorder	GLikely benign
Select item 3350701	NM_002660.3(PLCG1):c.2978A>G (p.Asn993Ser)	PLCG1 (N993S)	Single nucleotide variant (missense variant)	PLCG1-related disorder	GUncertain significance
Select item 3346535	NM_002660.3(PLCG1):c.3268_3270dup (p.Ile1090_Ser1091insIle)	PLCG1	Duplication (inframe_insertion)	PLCG1-related disorder	GUncertain significance
Select item 3346273	NM_002660.3(PLCG1):c.1415A>G (p.Tyr472Cys)	PLCG1 (Y472C)	Single nucleotide variant (missense variant)	PLCG1-related disorder	GUncertain significance
Select item 3344988	NM_002660.3(PLCG1):c.511C>T (p.Arg171Cys)	PLCG1 (R171C)	Single nucleotide variant (missense variant)	PLCG1-related disorder	GUncertain significance
Select item 3307368	NM_002660.3(PLCG1):c.3691G>A (p.Glu1231Lys)	PLCG1 (E1231K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307367	NM_002660.3(PLCG1):c.155A>G (p.Gln52Arg)	PLCG1, PLCG1-AS1 (Q52R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3307366	NM_002660.3(PLCG1):c.2872G>A (p.Val958Ile)	PLCG1 (V958I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307365	NM_002660.3(PLCG1):c.1258G>A (p.Ala420Thr)	PLCG1 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307364	NM_002660.3(PLCG1):c.584G>A (p.Arg195Gln)	PLCG1 (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307363	NM_002660.3(PLCG1):c.2740G>A (p.Asp914Asn)	PLCG1 (D914N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307362	NM_002660.3(PLCG1):c.3410A>C (p.Asn1137Thr)	PLCG1 (N1137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307361	NM_002660.3(PLCG1):c.3248G>A (p.Arg1083His)	PLCG1 (R1083H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307360	NM_002660.3(PLCG1):c.671C>T (p.Ala224Val)	PLCG1 (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307359	NM_002660.3(PLCG1):c.503G>A (p.Arg168His)	PLCG1 (R168H)	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 3214513	NM_002660.3(PLCG1):c.766C>A (p.Gln256Lys)	PLCG1 (Q256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3214511	NM_002660.3(PLCG1):c.589C>T (p.Arg197Trp)	PLCG1 (R197W)	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 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 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 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 3214506	NM_002660.3(PLCG1):c.332A>G (p.Tyr111Cys)	PLCG1 (Y111C)	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 3214504	NM_002660.3(PLCG1):c.2623G>T (p.Val875Phe)	PLCG1 (V875F)	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 3214502	NM_002660.3(PLCG1):c.1913A>G (p.His638Arg)	PLCG1 (H638R)	Single nucleotide variant (missense variant)	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 3214499	NM_002660.3(PLCG1):c.1294G>C (p.Val432Leu)	PLCG1 (V432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3031039	NM_002660.3(PLCG1):c.1673G>A (p.Gly558Glu)	PLCG1 (G558E)	Single nucleotide variant (missense variant)	PLCG1-related disorder	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 2580883	NM_002660.3(PLCG1):c.3062C>T (p.Ser1021Phe)	PLCG1	Single nucleotide variant (missense variant)	Immune dysregulation, autoimmunity, and autoinflammation	GPathogenic
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 2556023	NM_002660.3(PLCG1):c.2407A>G (p.Lys803Glu)	PLCG1 (K803E)	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 2549588	NM_002660.3(PLCG1):c.1373A>G (p.Lys458Arg)	PLCG1 (K458R)	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 2538779	NM_002660.3(PLCG1):c.500A>G (p.Asn167Ser)	PLCG1 (N167S)	Single nucleotide variant (missense variant)	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 2525716	NM_002660.3(PLCG1):c.762C>A (p.Phe254Leu)	PLCG1 (F254L)	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 2490253	NM_002660.3(PLCG1):c.3367A>G (p.Ser1123Gly)	PLCG1 (S1123G)	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 2406913	NM_002660.3(PLCG1):c.1607A>G (p.Lys536Arg)	PLCG1 (K536R)	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 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 2369950	NM_002660.3(PLCG1):c.2557G>A (p.Val853Met)	PLCG1 (V853M)	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 2352894	NM_002660.3(PLCG1):c.3625A>G (p.Ile1209Val)	PLCG1 (I1209V)	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 2305818	NM_002660.3(PLCG1):c.1640A>G (p.Asn547Ser)	PLCG1 (N547S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2289357	NM_002660.3(PLCG1):c.703G>A (p.Ala235Thr)	PLCG1 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2241981	NM_002660.3(PLCG1):c.1825C>T (p.Arg609Cys)	PLCG1 (R609C)	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 2238232	NM_002660.3(PLCG1):c.2021C>G (p.Thr674Ser)	PLCG1 (T674S)	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 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 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 789125	NM_002660.3(PLCG1):c.1851G>A (p.Gly617=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762508	NM_002660.3(PLCG1):c.2238A>G (p.Leu746=)	PLCG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740295	NM_002660.3(PLCG1):c.2799A>C (p.Ala933=)	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 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)	AAR2, ABHD12 +540 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 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71