ClinVar for MedGen (Select 766875) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824951.	NM_002661.5(PLCG2):c.146C>T (p.Thr49Met) GRCh37: Chr16:81819740 GRCh38: Chr16:81786135	PLCG2	T49M	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Apr 26, 2023)	criteria provided, single submitter
Select item 25713912.	NM_002661.5(PLCG2):c.1525A>G (p.Ile509Val) GRCh37: Chr16:81941347 GRCh38: Chr16:81907742	PLCG2	I509V	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Jul 10, 2023)	criteria provided, single submitter
Select item 16932663.	NM_002661.5(PLCG2):c.2534T>C (p.Leu845Ser) GRCh37: Chr16:81962182 GRCh38: Chr16:81928577	PLCG2	L845S	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely pathogenic (Jul 1, 2022)	no assertion criteria provided
Select item 16835974.	NM_002661.5(PLCG2):c.105G>A (p.Lys35=) GRCh37: Chr16:81819699 GRCh38: Chr16:81786094	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Feb 17, 2021)	criteria provided, single submitter
Select item 16756385.	NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala) GRCh37: Chr16:81973562 GRCh38: Chr16:81939957	PLCG2	P1127A	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided, Familial cold autoinflammatory syndrome 3	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16658556.	NM_002661.5(PLCG2):c.3199-16C>T GRCh37: Chr16:81972390 GRCh38: Chr16:81938785	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16651987.	NM_002661.5(PLCG2):c.2740-13G>A GRCh37: Chr16:81968021 GRCh38: Chr16:81934416	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16613028.	NM_002661.5(PLCG2):c.2496C>T (p.Phe832=) GRCh37: Chr16:81960765 GRCh38: Chr16:81927160	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16588599.	NM_002661.5(PLCG2):c.3053-8C>A GRCh37: Chr16:81971355 GRCh38: Chr16:81937750	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162728410.	NM_002661.5(PLCG2):c.3756-20T>A GRCh37: Chr16:81991541 GRCh38: Chr16:81957936	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Likely benign (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162644111.	NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=) GRCh37: Chr16:81971502 GRCh38: Chr16:81937897	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Likely benign (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161500812.	NM_002661.5(PLCG2):c.2236-15_2236-14insG GRCh37: Chr16:81954788-81954789 GRCh38: Chr16:81921183-81921184	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160840413.	NM_002661.5(PLCG2):c.2301G>A (p.Pro767=) GRCh37: Chr16:81954868 GRCh38: Chr16:81921263	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160739214.	NM_002661.5(PLCG2):c.2236-14C>T GRCh37: Chr16:81954789 GRCh38: Chr16:81921184	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159189015.	NM_002661.5(PLCG2):c.1194-16C>A GRCh37: Chr16:81934201 GRCh38: Chr16:81900596	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157788616.	NM_002661.5(PLCG2):c.1073-17C>T GRCh37: Chr16:81929395 GRCh38: Chr16:81895790	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157780317.	NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser) GRCh37: Chr16:81968122 GRCh38: Chr16:81934517	PLCG2	T943S	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157713418.	NM_002661.5(PLCG2):c.648+12C>G GRCh37: Chr16:81904552 GRCh38: Chr16:81870947	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157697319.	NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=) GRCh37: Chr16:81971382 GRCh38: Chr16:81937777	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157471620.	NM_002661.5(PLCG2):c.2054+11G>C GRCh37: Chr16:81946332 GRCh38: Chr16:81912727	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156536021.	NM_002661.5(PLCG2):c.1073-15C>T GRCh37: Chr16:81929397 GRCh38: Chr16:81895792	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156242922.	NM_002661.5(PLCG2):c.1557+14C>G GRCh37: Chr16:81941393 GRCh38: Chr16:81907788	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155898723.	NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=) GRCh37: Chr16:81979790 GRCh38: Chr16:81946185	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155702224.	NM_002661.5(PLCG2):c.766-13T>G GRCh37: Chr16:81922764 GRCh38: Chr16:81889159	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Benign/Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154892125.	NM_002661.5(PLCG2):c.480-15C>T GRCh37: Chr16:81902804 GRCh38: Chr16:81869199	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154538026.	NM_002661.5(PLCG2):c.323C>T (p.Thr108Met) GRCh37: Chr16:81888178 GRCh38: Chr16:81854573	PLCG2	T108M	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154460927.	NM_002661.5(PLCG2):c.147G>A (p.Thr49=) GRCh37: Chr16:81819741 GRCh38: Chr16:81786136	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152392028.	NM_002661.5(PLCG2):c.1467+3G>A GRCh37: Chr16:81939115 GRCh38: Chr16:81905510	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152338529.	NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys) GRCh37: Chr16:81971407 GRCh38: Chr16:81937802	PLCG2	R1033C	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150532330.	NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe) GRCh37: Chr16:81902826 GRCh38: Chr16:81869221	PLCG2	L163F	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150163931.	NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val) GRCh37: Chr16:81954812 GRCh38: Chr16:81921207	PLCG2	I749V	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149622432.	NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr) GRCh37: Chr16:81934329 GRCh38: Chr16:81900724	PLCG2	A436T	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147487733.	NM_002661.5(PLCG2):c.2867G>A (p.Arg956His) GRCh37: Chr16:81969798 GRCh38: Chr16:81936193	PLCG2	R956H	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147176734.	NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile) GRCh37: Chr16:81954830 GRCh38: Chr16:81921225	PLCG2	V755I	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146861135.	NM_002661.5(PLCG2):c.875C>T (p.Thr292Met) GRCh37: Chr16:81925084 GRCh38: Chr16:81891479	PLCG2	T292M	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144891136.	NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile) GRCh37: Chr16:81962226 GRCh38: Chr16:81928621	PLCG2	V860I	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144675837.	NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys) GRCh37: Chr16:81939065 GRCh38: Chr16:81905460	PLCG2	E474K	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144615438.	NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp) GRCh37: Chr16:81990411 GRCh38: Chr16:81956806	PLCG2	R1228W	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144560539.	NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter) GRCh37: Chr16:81990450 GRCh38: Chr16:81956845	PLCG2	Q1241*	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144460840.	NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln) GRCh37: Chr16:81944136 GRCh38: Chr16:81910531	PLCG2	R582Q	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143890841.	NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys) GRCh37: Chr16:81991585 GRCh38: Chr16:81957980	PLCG2	N1260K	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143600242.	NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn) GRCh37: Chr16:81979802 GRCh38: Chr16:81946197	PLCG2	K1168N	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142406543.	NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn) GRCh37: Chr16:81939032 GRCh38: Chr16:81905427	PLCG2	D463N	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142287144.	NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn) GRCh37: Chr16:81953218 GRCh38: Chr16:81919613	PLCG2	K728N	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141880245.	NM_002661.5(PLCG2):c.32C>T (p.Ala11Val) GRCh37: Chr16:81819626 GRCh38: Chr16:81786021	PLCG2	A11V	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140925746.	NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr) GRCh37: Chr16:81902824 GRCh38: Chr16:81869219	PLCG2	S162T	Familial cold autoinflammatory syndrome 3, Inborn genetic diseases, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139180747.	NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly) GRCh37: Chr16:81942022 GRCh38: Chr16:81908417	PLCG2	D520G	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138282348.	NM_002661.5(PLCG2):c.2235+3A>G GRCh37: Chr16:81953272 GRCh38: Chr16:81919667	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135225049.	NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile) GRCh37: Chr16:81973606 GRCh38: Chr16:81940001	PLCG2	M1141I	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134670450.	NM_002661.5(PLCG2):c.2581+5G>A GRCh37: Chr16:81962234 GRCh38: Chr16:81928629	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133389051.	NM_002661.5(PLCG2):c.1225T>A (p.Cys409Ser) GRCh37: Chr16:81934248 GRCh38: Chr16:81900643	PLCG2	C409S	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Nov 26, 2019)	criteria provided, single submitter
Select item 132742452.	NM_002661.5(PLCG2):c.565-22del GRCh37: Chr16:81904434 GRCh38: Chr16:81870829	PLCG2		not specified, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131458753.	NM_002661.5(PLCG2):c.2102A>G (p.His701Arg) GRCh37: Chr16:81953136 GRCh38: Chr16:81919531	PLCG2	H701R	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided	Uncertain significance (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131449454.	NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys) GRCh37: Chr16:81944246 GRCh38: Chr16:81910641	PLCG2	E619K	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided	Uncertain significance (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130420455.	NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr) GRCh37: Chr16:81925131 GRCh38: Chr16:81891526	PLCG2	A308T	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided, Familial cold autoinflammatory syndrome 3	Uncertain significance (Aug 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126994456.	NM_002661.5(PLCG2):c.431+37G>C GRCh37: Chr16:81891998 GRCh38: Chr16:81858393	PLCG2		not specified, not provided, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 126652557.	NM_002661.5(PLCG2):c.1467+38G>C GRCh37: Chr16:81939150 GRCh38: Chr16:81905545	PLCG2		not provided, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not specified	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 125196258.	NM_002661.5(PLCG2):c.2119T>C (p.Ser707Pro) GRCh37: Chr16:81953153 GRCh38: Chr16:81919548	PLCG2	S707P	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely pathogenic (Sep 9, 2021)	no assertion criteria provided
Select item 124778759.	NM_002661.5(PLCG2):c.480-22A>G GRCh37: Chr16:81902797 GRCh38: Chr16:81869192	PLCG2		not specified, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not provided	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 124664560.	NM_002661.5(PLCG2):c.692+25C>T GRCh37: Chr16:81914583 GRCh38: Chr16:81880978	PLCG2		not specified, Familial cold autoinflammatory syndrome 3, not provided, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 123459461.	NM_002661.5(PLCG2):c.3314-23C>A GRCh37: Chr16:81973474 GRCh38: Chr16:81939869	PLCG2		not specified, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, not provided, Familial cold autoinflammatory syndrome 3	Benign (Nov 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 117278462.	NM_002661.5(PLCG2):c.64C>A (p.Leu22Met) GRCh37: Chr16:81819658 GRCh38: Chr16:81786053	PLCG2	L22M	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Mar 6, 2021)	criteria provided, single submitter
Select item 116865663.	NM_002661.5(PLCG2):c.2055-8T>C GRCh37: Chr16:81953081 GRCh38: Chr16:81919476	PLCG2		Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, not specified	Benign (Nov 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116652464.	NM_002661.5(PLCG2):c.2055-20C>A GRCh37: Chr16:81953069 GRCh38: Chr16:81919464	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116587865.	NM_002661.5(PLCG2):c.3198+20C>G GRCh37: Chr16:81971528 GRCh38: Chr16:81937923	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116358566.	NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile) GRCh37: Chr16:81979791 GRCh38: Chr16:81946186	PLCG2	V1165I	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, not provided, Familial cold autoinflammatory syndrome 3	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 116279567.	NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val) GRCh37: Chr16:81957165 GRCh38: Chr16:81923560	PLCG2	L795V	not provided, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116279268.	NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg) GRCh37: Chr16:81819642 GRCh38: Chr16:81786037	PLCG2	S16R	not provided, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116128369.	NM_002661.5(PLCG2):c.591C>T (p.Leu197=) GRCh37: Chr16:81904483 GRCh38: Chr16:81870878	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115528470.	NM_002661.5(PLCG2):c.246C>T (p.Phe82=) GRCh37: Chr16:81888101 GRCh38: Chr16:81854496	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114722571.	NM_002661.5(PLCG2):c.2055-8_2055-7inv GRCh37: Chr16:81953081-81953082 GRCh38: Chr16:81919476-81919477	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113512272.	NM_002661.5(PLCG2):c.1934+8T>G GRCh37: Chr16:81944333 GRCh38: Chr16:81910728	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112459773.	NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=) GRCh37: Chr16:81973603 GRCh38: Chr16:81939998	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112266974.	NM_002661.5(PLCG2):c.2331G>A (p.Leu777=) GRCh37: Chr16:81957113 GRCh38: Chr16:81923508	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112245375.	NM_002661.5(PLCG2):c.1558-4C>A GRCh37: Chr16:81942017 GRCh38: Chr16:81908412	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111874676.	NM_002661.5(PLCG2):c.1212C>T (p.Ser404=) GRCh37: Chr16:81934235 GRCh38: Chr16:81900630	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111282177.	NM_002661.5(PLCG2):c.3571-10C>T GRCh37: Chr16:81990290 GRCh38: Chr16:81956685	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111055478.	NM_002661.5(PLCG2):c.1362+8C>A GRCh37: Chr16:81934393 GRCh38: Chr16:81900788	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110990579.	NM_002661.5(PLCG2):c.540C>T (p.Ala180=) GRCh37: Chr16:81902879 GRCh38: Chr16:81869274	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110170080.	NM_002661.5(PLCG2):c.1464C>T (p.Asp488=) GRCh37: Chr16:81939109 GRCh38: Chr16:81905504	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109964881.	NM_002661.5(PLCG2):c.2940G>A (p.Lys980=) GRCh37: Chr16:81969871 GRCh38: Chr16:81936266	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108031282.	NM_002661.5(PLCG2):c.1935-4G>A GRCh37: Chr16:81946198 GRCh38: Chr16:81912593	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107734483.	NM_002661.5(PLCG2):c.1733+11C>T GRCh37: Chr16:81942207 GRCh38: Chr16:81908602	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105854484.	NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His) GRCh37: Chr16:81971408 GRCh38: Chr16:81937803	PLCG2	R1033H	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105594285.	NM_002661.5(PLCG2):c.2600A>G (p.Lys867Arg) GRCh37: Chr16:81965120 GRCh38: Chr16:81931515	PLCG2	K867R	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105572686.	NM_002661.5(PLCG2):c.679G>A (p.Val227Met) GRCh37: Chr16:81914545 GRCh38: Chr16:81880940	PLCG2	V227M	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104635787.	NM_002661.5(PLCG2):c.692+7C>T GRCh37: Chr16:81914565 GRCh38: Chr16:81880960	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103353088.	NM_002661.5(PLCG2):c.899G>T (p.Ser300Ile) GRCh37: Chr16:81925108 GRCh38: Chr16:81891503	PLCG2	S300I	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Apr 14, 2018)	criteria provided, single submitter
Select item 103352989.	NM_002661.5(PLCG2):c.564+19C>T GRCh37: Chr16:81902922 GRCh38: Chr16:81869317	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 103352790.	NM_002661.5(PLCG2):c.1868G>T (p.Arg623Leu) GRCh37: Chr16:81944259 GRCh38: Chr16:81910654	PLCG2	R623L	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Jun 30, 2018)	criteria provided, single submitter
Select item 102961891.	NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys) GRCh37: Chr16:81925115 GRCh38: Chr16:81891510	PLCG2	W302C	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Aug 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102307292.	NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp) GRCh37: Chr16:81972496 GRCh38: Chr16:81938891	PLCG2	N1097D	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102232293.	NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile) GRCh37: Chr16:81960772 GRCh38: Chr16:81927167	PLCG2	L835I	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 102122294.	NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys) GRCh37: Chr16:81990479 GRCh38: Chr16:81956874	PLCG2	N1250K	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101872895.	NM_002661.5(PLCG2):c.628A>C (p.Met210Leu) GRCh37: Chr16:81904520 GRCh38: Chr16:81870915	PLCG2	M210L	not provided, Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101856596.	NM_002661.5(PLCG2):c.2739+19G>A GRCh37: Chr16:81965278 GRCh38: Chr16:81931673	PLCG2		Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 101751897.	NM_002661.5(PLCG2):c.2399C>G (p.Ser800Cys) GRCh37: Chr16:81957181 GRCh38: Chr16:81923576	PLCG2	S800C	Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101434098.	NM_002661.5(PLCG2):c.3002G>A (p.Arg1001His) GRCh37: Chr16:81969933 GRCh38: Chr16:81936328	PLCG2	R1001H	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100942699.	NM_002661.5(PLCG2):c.3747C>G (p.Cys1249Trp) GRCh37: Chr16:81990476 GRCh38: Chr16:81956871	PLCG2	C1249W	Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1007792100.	NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=) GRCh37: Chr16:81979814 GRCh38: Chr16:81946209	PLCG2		Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations

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