"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PLCG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1418802	NM_002661.5(PLCG2):c.32C>T (p.Ala11Val)	PLCG2 (A11V)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 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 540118	NM_002661.5(PLCG2):c.57G>A (p.Lys19=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 714850	NM_002661.5(PLCG2):c.110C>A (p.Thr37Asn)	PLCG2 (T37N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GLikely benign
Select item 743718	NM_002661.5(PLCG2):c.114C>T (p.Pro38=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely benign
Select item 952770	NM_002661.5(PLCG2):c.127G>A (p.Val43Ile)	PLCG2 (V43I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
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 440162	NM_002661.5(PLCG2):c.171C>T (p.Thr57=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 540115	NM_002661.5(PLCG2):c.183C>T (p.Ile61=)	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 827987	NM_002661.5(PLCG2):c.304A>G (p.Thr102Ala)	PLCG2 (T102A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 661436	NM_002661.5(PLCG2):c.313G>A (p.Val105Ile)	PLCG2 (V105I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
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 731461	NM_002661.5(PLCG2):c.324G>C (p.Thr108=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 1007262	NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr)	PLCG2 (A136T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 946305	NM_002661.5(PLCG2):c.407C>T (p.Ala136Val)	PLCG2 (A136V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 650329	NM_002661.5(PLCG2):c.421A>G (p.Ile141Val)	PLCG2 (I141V)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GConflicting classifications of pathogenicity
Select item 540110	NM_002661.5(PLCG2):c.432-3C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 736304	NM_002661.5(PLCG2):c.438G>A (p.Leu146=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely 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 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 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 432319	NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)	PLCG2 (T168A)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GConflicting classifications of pathogenicity
Select item 660909	NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe)	PLCG2 (L170F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
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 540126	NM_002661.5(PLCG2):c.540C>G (p.Ala180=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 540096	NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe)	PLCG2 (L183F)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 1007685	NM_002661.5(PLCG2):c.581A>T (p.Lys194Ile)	PLCG2 (K194I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 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 972521	NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg)	PLCG2 (S198R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GUncertain significance
Select item 540107	NM_002661.5(PLCG2):c.600A>G (p.Glu200=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
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
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 623890	NM_002661.5(PLCG2):c.678C>T (p.Ser226=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 751415	NM_002661.5(PLCG2):c.766-7T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 540106	NM_002661.5(PLCG2):c.784C>G (p.Leu262Val)	PLCG2 (L262V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +3 more	GUncertain significance
Select item 1002723	NM_002661.5(PLCG2):c.839C>G (p.Thr280Ser)	PLCG2 (T280S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 472905	NM_002661.5(PLCG2):c.843T>C (p.Ala281=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 837107	NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu)	PLCG2 (F284L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +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 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 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 951086	NM_002661.5(PLCG2):c.925G>A (p.Val309Met)	PLCG2 (V309M)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 540097	NM_002661.5(PLCG2):c.942G>A (p.Met314Ile)	PLCG2 (M314I)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GUncertain significance
Select item 540111	NM_002661.5(PLCG2):c.1050C>A (p.Arg350=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 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 713641	NM_002661.5(PLCG2):c.1116T>C (p.His372=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 745335	NM_002661.5(PLCG2):c.1176C>T (p.His392=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more	GLikely 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 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 540120	NM_002661.5(PLCG2):c.1236G>A (p.Glu412=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 665557	NM_002661.5(PLCG2):c.1301C>T (p.Thr434Met)	PLCG2 (T434M)	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 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 618328	NM_002661.5(PLCG2):c.1383A>G (p.Arg461=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
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 708148	NM_002661.5(PLCG2):c.1419C>T (p.Asp473=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GLikely benign
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 795621	NM_002661.5(PLCG2):c.1437G>A (p.Gly479=)	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 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 472890	NM_002661.5(PLCG2):c.1557+6G>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely 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 445753	NM_002661.5(PLCG2):c.1558-18C>T	PLCG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 540114	NM_002661.5(PLCG2):c.1558-8C>T	PLCG2	Single nucleotide variant (intron 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 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 935605	NM_002661.5(PLCG2):c.1567C>G (p.Pro523Ala)	PLCG2 (P523A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 791040	NM_002661.5(PLCG2):c.1569T>A (p.Pro523=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 718977	NM_002661.5(PLCG2):c.1629C>T (p.Ala543=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 472891	NM_002661.5(PLCG2):c.1634A>G (p.Lys545Arg)	PLCG2 (K545R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 540116	NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 580136	NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp)	PLCG2 (E565D)	Single nucleotide variant (missense variant)	PLCG2-related disorder +3 more	GUncertain significance
Select item 440159	NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)	PLCG2 (N571S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely 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 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 571262	NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly)	PLCG2 (E593G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 837524	NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg)	PLCG2 (G595R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 1314494	NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys)	PLCG2 (E619K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 797635	NM_002661.5(PLCG2):c.1881C>T (p.Phe627=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 739430	NM_002661.5(PLCG2):c.1923C>T (p.His641=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
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 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 786755	NM_002661.5(PLCG2):c.1959C>T (p.Arg653=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 760523	NM_002661.5(PLCG2):c.1998C>T (p.Asp666=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GLikely benign
Select item 749637	NM_002661.5(PLCG2):c.2032G>A (p.Asp678Asn)	PLCG2 (D678N)	Single nucleotide variant (missense 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 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 540128	NM_002661.5(PLCG2):c.2055-10C>A	PLCG2	Single nucleotide variant (intron 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 792223	NM_002661.5(PLCG2):c.2067G>A (p.Lys689=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 959597	NM_002661.5(PLCG2):c.2090G>A (p.Arg697Gln)	PLCG2 (R697Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 472895	NM_002661.5(PLCG2):c.2094C>T (p.Asp698=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
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 719737	NM_002661.5(PLCG2):c.2148C>T (p.Leu716=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GBenign/Likely benign
Select item 1005139	NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu)	PLCG2 (K722E)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance

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