5336[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 1266240	NM_002661.5(PLCG2):c.-47-62C>G	PLCG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 732127	NM_002661.5(PLCG2):c.11C>T (p.Thr4Met)	PLCG2 (T4M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2507079	NM_002661.5(PLCG2):c.12G>C (p.Thr4=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1625266	NM_002661.5(PLCG2):c.12G>A (p.Thr4=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2178044	NM_002661.5(PLCG2):c.13G>T (p.Val5Phe)	PLCG2 (V5F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 2716715	NM_002661.5(PLCG2):c.17A>G (p.Asn6Ser)	PLCG2 (N6S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3307369	NM_002661.5(PLCG2):c.20T>A (p.Val7Glu)	PLCG2 (V7E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2850783	NM_002661.5(PLCG2):c.23A>T (p.Asp8Val)	PLCG2 (D8V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1556311	NM_002661.5(PLCG2):c.27C>A (p.Ser9=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1513405	NM_002661.5(PLCG2):c.32C>A (p.Ala11Glu)	PLCG2 (A11E)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	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 2003790	NM_002661.5(PLCG2):c.42G>A (p.Glu14=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2843935	NM_002661.5(PLCG2):c.46A>G (p.Ser16Gly)	PLCG2 (S16G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2802486	NM_002661.5(PLCG2):c.48C>T (p.Ser16=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
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 1982820	NM_002661.5(PLCG2):c.50A>G (p.Gln17Arg)	PLCG2 (Q17R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1358008	NM_002661.5(PLCG2):c.50A>T (p.Gln17Leu)	PLCG2 (Q17L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	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 871673	NM_002661.5(PLCG2):c.59G>A (p.Arg20Lys)	PLCG2 (R20K)	Single nucleotide variant (missense variant)	not provided	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 1520957	NM_002661.5(PLCG2):c.61G>T (p.Ala21Ser)	PLCG2 (A21S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	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 2197448	NM_002661.5(PLCG2):c.63C>T (p.Ala21=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
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 1145760	NM_002661.5(PLCG2):c.72G>C (p.Leu24=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2862367	NM_002661.5(PLCG2):c.75G>T (p.Gly25=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 618829	NM_002661.5(PLCG2):c.77C>T (p.Thr26Met)	PLCG2 (T26M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1896186	NM_002661.5(PLCG2):c.78G>A (p.Thr26=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1647766	NM_002661.5(PLCG2):c.78G>C (p.Thr26=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 440153	NM_002661.5(PLCG2):c.82A>T (p.Met28Leu)	PLCG2 (M28L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1102342	NM_002661.5(PLCG2):c.88G>T (p.Val30Leu)	PLCG2 (V30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1539609	NM_002661.5(PLCG2):c.90G>C (p.Val30=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2633165	NM_002661.5(PLCG2):c.94A>C (p.Ser32Arg)	PLCG2 (S32R)	Single nucleotide variant (missense variant)	PLCG2-related disorder	GUncertain significance
Select item 2578770	NM_002661.5(PLCG2):c.95G>A (p.Ser32Asn)	PLCG2 (S32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003693	NM_002661.5(PLCG2):c.97T>C (p.Phe33Leu)	PLCG2 (F33L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2727535	NM_002661.5(PLCG2):c.101G>A (p.Arg34His)	PLCG2 (R34H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1418515	NM_002661.5(PLCG2):c.102C>T (p.Arg34=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1153263	NM_002661.5(PLCG2):c.102C>G (p.Arg34=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
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 3013698	NM_002661.5(PLCG2):c.107C>G (p.Ser36Cys)	PLCG2 (S36C)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
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 2716831	NM_002661.5(PLCG2):c.111C>T (p.Thr37=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2732498	NM_002661.5(PLCG2):c.114C>G (p.Pro38=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2133722	NM_002661.5(PLCG2):c.114C>A (p.Pro38=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 743718	NM_002661.5(PLCG2):c.114C>T (p.Pro38=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 1624109	NM_002661.5(PLCG2):c.117G>A (p.Glu39=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2875017	NM_002661.5(PLCG2):c.120G>C (p.Arg40=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1631878	NM_002661.5(PLCG2):c.126C>T (p.Thr42=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 722862	NM_002661.5(PLCG2):c.126C>G (p.Thr42=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided	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 649893	NM_002661.5(PLCG2):c.127G>T (p.Val43Phe)	PLCG2 (V43F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2828917	NM_002661.5(PLCG2):c.133G>T (p.Val45Leu)	PLCG2 (V45L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1045819	NM_002661.5(PLCG2):c.133G>A (p.Val45Met)	PLCG2 (V45M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 753745	NM_002661.5(PLCG2):c.138C>A (p.Ile46=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
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 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 2914223	NM_002661.5(PLCG2):c.149G>A (p.Arg50Gln)	PLCG2 (R50Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2089666	NM_002661.5(PLCG2):c.150G>A (p.Arg50=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2086758	NM_002661.5(PLCG2):c.153G>C (p.Gln51His)	PLCG2 (Q51H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 871674	NM_002661.5(PLCG2):c.157G>A (p.Ala53Thr)	PLCG2 (A53T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 2873385	NM_002661.5(PLCG2):c.168G>A (p.Lys56=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	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 540105	NM_002661.5(PLCG2):c.173C>T (p.Ala58Val)	PLCG2 (A58V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2788392	NM_002661.5(PLCG2):c.174_175inv (p.Asp59Asn)	PLCG2 (D59N)	Inversion (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 403316	NM_002661.5(PLCG2):c.174T>C (p.Ala58=)	PLCG2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1396342	NM_002661.5(PLCG2):c.183C>G (p.Ile61Met)	PLCG2 (I61M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1126497	NM_002661.5(PLCG2):c.183C>A (p.Ile61=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	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 1913868	NM_002661.5(PLCG2):c.193+7_193+13del	PLCG2	Deletion (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1539928	NM_002661.5(PLCG2):c.193+10C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2917996	NM_002661.5(PLCG2):c.193+11G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1280980	NM_002661.5(PLCG2):c.193+33G>A	PLCG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241287	NM_002661.5(PLCG2):c.194-229C>T	PLCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276881	NM_002661.5(PLCG2):c.194-190C>G	PLCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279106	NM_002661.5(PLCG2):c.194-146A>G	PLCG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178089	NM_002661.5(PLCG2):c.194-111T>C	PLCG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1270373	NM_002661.5(PLCG2):c.194-92A>C	PLCG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1182179	NM_002661.5(PLCG2):c.194-72G>C	PLCG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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