ClinVar for MedGen (Select 766875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393023	NM_002661.5(PLCG2):c.3723G>C (p.Gln1241His)	PLCG2 (Q1241H)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 3341349	NM_002661.5(PLCG2):c.61G>C (p.Ala21Pro)	PLCG2 (A21P)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 3235015	NM_002661.5(PLCG2):c.62C>T (p.Ala21Val)	PLCG2 (A21V)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 3075736	NM_002661.5(PLCG2):c.1744C>T (p.Arg582Trp)	PLCG2 (R582W)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 2664918	NM_002661.5(PLCG2):c.2694G>T (p.Glu898Asp)	PLCG2 (E898D)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 2582495	NM_002661.5(PLCG2):c.146C>T (p.Thr49Met)	PLCG2 (T49M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 2571391	NM_002661.5(PLCG2):c.1525A>G (p.Ile509Val)	PLCG2 (I509V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1693266	NM_002661.5(PLCG2):c.2534T>C (p.Leu845Ser)	PLCG2 (L845S)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GLikely pathogenic
Select item 1683597	NM_002661.5(PLCG2):c.105G>A (p.Lys35=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1675638	NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala)	PLCG2 (P1127A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1665855	NM_002661.5(PLCG2):c.3199-16C>T	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 1665198	NM_002661.5(PLCG2):c.2740-13G>A	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 1661302	NM_002661.5(PLCG2):c.2496C>T (p.Phe832=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1658859	NM_002661.5(PLCG2):c.3053-8C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1627284	NM_002661.5(PLCG2):c.3756-20T>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1626441	NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1615008	NM_002661.5(PLCG2):c.2236-15_2236-14insG	PLCG2	Insertion (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1608404	NM_002661.5(PLCG2):c.2301G>A (p.Pro767=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1607392	NM_002661.5(PLCG2):c.2236-14C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1591890	NM_002661.5(PLCG2):c.1194-16C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1577886	NM_002661.5(PLCG2):c.1073-17C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1577803	NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser)	PLCG2 (T943S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1577134	NM_002661.5(PLCG2):c.648+12C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1576973	NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1574716	NM_002661.5(PLCG2):c.2054+11G>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1565360	NM_002661.5(PLCG2):c.1073-15C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1562429	NM_002661.5(PLCG2):c.1557+14C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1558987	NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1557022	NM_002661.5(PLCG2):c.766-13T>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1548921	NM_002661.5(PLCG2):c.480-15C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1545380	NM_002661.5(PLCG2):c.323C>T (p.Thr108Met)	PLCG2 (T108M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GLikely benign
Select item 1544609	NM_002661.5(PLCG2):c.147G>A (p.Thr49=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1523920	NM_002661.5(PLCG2):c.1467+3G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1523385	NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys)	PLCG2 (R1033C)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1505323	NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe)	PLCG2 (L163F)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1501639	NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val)	PLCG2 (I749V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1496224	NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr)	PLCG2 (A436T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1474877	NM_002661.5(PLCG2):c.2867G>A (p.Arg956His)	PLCG2 (R956H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1471767	NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile)	PLCG2 (V755I)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1468611	NM_002661.5(PLCG2):c.875C>T (p.Thr292Met)	PLCG2 (T292M)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1448911	NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile)	PLCG2 (V860I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1446758	NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys)	PLCG2 (E474K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1446154	NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp)	PLCG2 (R1228W)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1445605	NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter)	PLCG2 (Q1241*)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1444608	NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln)	PLCG2 (R582Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1438908	NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys)	PLCG2 (N1260K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1436002	NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn)	PLCG2 (K1168N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1424065	NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn)	PLCG2 (D463N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1422871	NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn)	PLCG2 (K728N)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1418802	NM_002661.5(PLCG2):c.32C>T (p.Ala11Val)	PLCG2 (A11V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +3 more	GUncertain significance
Select item 1409257	NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr)	PLCG2 (S162T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1391807	NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly)	PLCG2 (D520G)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GUncertain significance
Select item 1382823	NM_002661.5(PLCG2):c.2235+3A>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1352250	NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile)	PLCG2 (M1141I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1346704	NM_002661.5(PLCG2):c.2581+5G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1333890	NM_002661.5(PLCG2):c.1225T>A (p.Cys409Ser)	PLCG2 (C409S)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 1327424	NM_002661.5(PLCG2):c.565-22del	PLCG2	Deletion (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign
Select item 1314587	NM_002661.5(PLCG2):c.2102A>G (p.His701Arg)	PLCG2 (H701R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1314494	NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys)	PLCG2 (E619K)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GConflicting classifications of pathogenicity
Select item 1304204	NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr)	PLCG2 (A308T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1269944	NM_002661.5(PLCG2):c.431+37G>C	PLCG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1266525	NM_002661.5(PLCG2):c.1467+38G>C	PLCG2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1251962	NM_002661.5(PLCG2):c.2119T>C (p.Ser707Pro)	PLCG2 (S707P)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GLikely pathogenic
Select item 1247787	NM_002661.5(PLCG2):c.480-22A>G	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GBenign
Select item 1246645	NM_002661.5(PLCG2):c.692+25C>T	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GBenign
Select item 1234594	NM_002661.5(PLCG2):c.3314-23C>A	PLCG2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1172784	NM_002661.5(PLCG2):c.64C>A (p.Leu22Met)	PLCG2 (L22M)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 1168656	NM_002661.5(PLCG2):c.2055-8T>C	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GBenign
Select item 1166524	NM_002661.5(PLCG2):c.2055-20C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1165878	NM_002661.5(PLCG2):c.3198+20C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1163585	NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)	PLCG2 (V1165I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1162795	NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val)	PLCG2 (L795V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1162792	NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg)	PLCG2 (S16R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1161283	NM_002661.5(PLCG2):c.591C>T (p.Leu197=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1155284	NM_002661.5(PLCG2):c.246C>T (p.Phe82=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1147225	NM_002661.5(PLCG2):c.2055-8_2055-7inv	PLCG2	Inversion (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1135122	NM_002661.5(PLCG2):c.1934+8T>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1124597	NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1122669	NM_002661.5(PLCG2):c.2331G>A (p.Leu777=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1122453	NM_002661.5(PLCG2):c.1558-4C>A	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 1118746	NM_002661.5(PLCG2):c.1212C>T (p.Ser404=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1112821	NM_002661.5(PLCG2):c.3571-10C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1110554	NM_002661.5(PLCG2):c.1362+8C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1109905	NM_002661.5(PLCG2):c.540C>T (p.Ala180=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1101700	NM_002661.5(PLCG2):c.1464C>T (p.Asp488=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1099648	NM_002661.5(PLCG2):c.2940G>A (p.Lys980=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 1080312	NM_002661.5(PLCG2):c.1935-4G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1077344	NM_002661.5(PLCG2):c.1733+11C>T	PLCG2	Single nucleotide variant (intron variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 1058544	NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His)	PLCG2 (R1033H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1055942	NM_002661.5(PLCG2):c.2600A>G (p.Lys867Arg)	PLCG2 (K867R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1055726	NM_002661.5(PLCG2):c.679G>A (p.Val227Met)	PLCG2 (V227M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1046357	NM_002661.5(PLCG2):c.692+7C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 1033530	NM_002661.5(PLCG2):c.899G>T (p.Ser300Ile)	PLCG2 (S300I)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 1033529	NM_002661.5(PLCG2):c.564+19C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1033527	NM_002661.5(PLCG2):c.1868G>T (p.Arg623Leu)	PLCG2 (R623L)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	GUncertain significance
Select item 1029618	NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys)	PLCG2 (W302C)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1023072	NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp)	PLCG2 (N1097D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1022322	NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile)	PLCG2 (L835I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1021222	NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys)	PLCG2 (N1250K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1018728	NM_002661.5(PLCG2):c.628A>C (p.Met210Leu)	PLCG2 (M210L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance

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