C3280914[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GBenign/Likely benign
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 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 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)	not provided +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)	Familial cold autoinflammatory syndrome 3 +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 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 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)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +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 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 +1 more	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 specified +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 584181	NC_000016.10:g.(?_81854424)_(81859183_?)del	PLCG2	Deletion	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2794588	NM_002661.5(PLCG2):c.194-19C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1593885	NM_002661.5(PLCG2):c.194-16G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2894956	NM_002661.5(PLCG2):c.194-9T>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2813420	NM_002661.5(PLCG2):c.194-8C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2070962	NM_002661.5(PLCG2):c.194-3T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3022955	NM_002661.5(PLCG2):c.202A>G (p.Met68Val)	PLCG2 (M68V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1418060	NM_002661.5(PLCG2):c.202A>T (p.Met68Leu)	PLCG2 (M68L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1463822	NM_002661.5(PLCG2):c.207A>C (p.Glu69Asp)	PLCG2 (E69D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1369020	NM_002661.5(PLCG2):c.208A>G (p.Ile70Val)	PLCG2 (I70V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1345702	NM_002661.5(PLCG2):c.216A>C (p.Glu72Asp)	PLCG2 (E72D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2969495	NM_002661.5(PLCG2):c.219C>G (p.Ile73Met)	PLCG2 (I73M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1627741	NM_002661.5(PLCG2):c.222C>T (p.Arg74=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1139357	NM_002661.5(PLCG2):c.225A>G (p.Pro75=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 748196	NM_002661.5(PLCG2):c.225A>C (p.Pro75=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2121096	NM_002661.5(PLCG2):c.228G>C (p.Gly76=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1421115	NM_002661.5(PLCG2):c.241G>A (p.Asp81Asn)	PLCG2 (D81N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
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 2862872	NM_002661.5(PLCG2):c.248A>G (p.Glu83Gly)	PLCG2 (E83G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1971045	NM_002661.5(PLCG2):c.264T>G (p.Val88=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 939532	NM_002661.5(PLCG2):c.265C>T (p.Arg89Cys)	PLCG2 (R89C)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 1054595	NM_002661.5(PLCG2):c.266G>A (p.Arg89His)	PLCG2 (R89H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2025382	NM_002661.5(PLCG2):c.273A>G (p.Lys91=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2158081	NM_002661.5(PLCG2):c.281G>A (p.Cys94Tyr)	PLCG2 (C94Y)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3014904	NM_002661.5(PLCG2):c.291C>T (p.Thr97=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1352242	NM_002661.5(PLCG2):c.292A>G (p.Ile98Val)	PLCG2 (I98V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 2698554	NM_002661.5(PLCG2):c.295C>T (p.Leu99=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1128388	NM_002661.5(PLCG2):c.297A>C (p.Leu99=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 1077239	NM_002661.5(PLCG2):c.297A>T (p.Leu99=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 403317	NM_002661.5(PLCG2):c.297A>G (p.Leu99=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2807844	NM_002661.5(PLCG2):c.304A>T (p.Thr102Ser)	PLCG2 (T102S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
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 2819748	NM_002661.5(PLCG2):c.309G>T (p.Gln103His)	PLCG2 (Q103H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 751348	NM_002661.5(PLCG2):c.309G>A (p.Gln103=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3010131	NM_002661.5(PLCG2):c.312C>T (p.Phe104=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 661436	NM_002661.5(PLCG2):c.313G>A (p.Val105Ile)	PLCG2 (V105I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 2417733	NM_002661.5(PLCG2):c.315C>T (p.Val105=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	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 1145232	NM_002661.5(PLCG2):c.324G>A (p.Thr108=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	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

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