"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +3 more	GBenign/Likely 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 1135371	NM_002661.5(PLCG2):c.688C>T (p.Leu230=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 618830	NM_002661.5(PLCG2):c.714C>T (p.Ala238=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 540125	NM_002661.5(PLCG2):c.771T>C (p.His257=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 472906	NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)	PLCG2 (A308V)	Single nucleotide variant (missense variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GConflicting classifications of pathogenicity
Select item 472908	NM_002661.5(PLCG2):c.987G>A (p.Thr329=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 472888	NM_002661.5(PLCG2):c.1146T>C (p.Phe382=)	PLCG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 540101	NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro)	PLCG2 (Q387P)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 440158	NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)	PLCG2 (Y482H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 540116	NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related condition +3 more	GBenign/Likely benign
Select item 440159	NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)	PLCG2 (N571S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 540127	NM_002661.5(PLCG2):c.1859C>T (p.Thr620Met)	PLCG2 (T620M)	Single nucleotide variant (missense variant)	PLCG2-related condition +2 more	GBenign/Likely benign
Select item 472895	NM_002661.5(PLCG2):c.2094C>T (p.Asp698=)	PLCG2	Single nucleotide variant (synonymous variant)	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +2 more	GBenign/Likely benign
Select item 773585	NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)	PLCG2 (N798S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 1284963	NM_002661.5(PLCG2):c.2658G>A (p.Val886=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GBenign
Select item 1138671	NM_002661.5(PLCG2):c.2898C>T (p.Ile966=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign