"PLCG2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 731461	NM_002661.5(PLCG2):c.324G>C (p.Thr108=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +2 more	GBenign/Likely benign
Select item 540110	NM_002661.5(PLCG2):c.432-3C>T	PLCG2	Single nucleotide variant (intron variant)	PLCG2-related disorder +3 more	GBenign/Likely benign
Select item 660909	NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe)	PLCG2 (L170F)	Single nucleotide variant (missense variant)	PLCG2-related disorder +2 more	GUncertain significance
Select item 577745	NM_002661.5(PLCG2):c.533G>A (p.Ser178Asn)	PLCG2 (S178N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GBenign/Likely benign
Select item 540126	NM_002661.5(PLCG2):c.540C>G (p.Ala180=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +3 more	GBenign/Likely benign
Select item 659304	NM_002661.5(PLCG2):c.577C>G (p.His193Asp)	PLCG2 (H193D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 623890	NM_002661.5(PLCG2):c.678C>T (p.Ser226=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +3 more	GLikely benign
Select item 2629071	NM_002661.5(PLCG2):c.751A>T (p.Ile251Leu)	PLCG2 (I251L)	Single nucleotide variant (missense variant)	PLCG2-related disorder +1 more	GUncertain significance
Select item 540125	NM_002661.5(PLCG2):c.771T>C (p.His257=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +2 more	GBenign/Likely benign
Select item 3032237	NM_002661.5(PLCG2):c.888A>T (p.Ser296=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder	GLikely benign
Select item 540111	NM_002661.5(PLCG2):c.1050C>A (p.Arg350=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +2 more	GBenign/Likely benign
Select item 746503	NM_002661.5(PLCG2):c.1073-8C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 3031014	NM_002661.5(PLCG2):c.1194-10C>T	PLCG2	Single nucleotide variant (intron variant)	PLCG2-related disorder	GLikely benign
Select item 540120	NM_002661.5(PLCG2):c.1236G>A (p.Glu412=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +2 more	GLikely benign
Select item 472889	NM_002661.5(PLCG2):c.1258G>A (p.Ala420Thr)	PLCG2 (A420T)	Single nucleotide variant (missense variant)	PLCG2-related disorder +1 more	GBenign
Select item 3058401	NM_002661.5(PLCG2):c.1362+4G>C	PLCG2	Single nucleotide variant (intron variant)	PLCG2-related disorder	GLikely benign
Select item 708148	NM_002661.5(PLCG2):c.1419C>T (p.Asp473=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +3 more	GLikely benign
Select item 718867	NM_002661.5(PLCG2):c.1449G>A (p.Met483Ile)	PLCG2 (M483I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GLikely benign
Select item 540114	NM_002661.5(PLCG2):c.1558-8C>T	PLCG2	Single nucleotide variant (intron variant)	PLCG2-related disorder +2 more	GLikely benign
Select item 440154	NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg)	PLCG2 (P522R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 540116	NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +3 more	GBenign/Likely benign
Select item 580136	NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp)	PLCG2 (E565D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +3 more	GUncertain significance
Select item 540122	NM_002661.5(PLCG2):c.1812C>T (p.Asn604=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +1 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 disorder +2 more	GBenign/Likely benign
Select item 778505	NM_002661.5(PLCG2):c.1916A>G (p.Asn639Ser)	PLCG2 (N639S)	Single nucleotide variant (missense 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)	PLCG2-related disorder +2 more	GLikely benign
Select item 3046563	NM_002661.5(PLCG2):c.2076T>C (p.His692=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder	GLikely benign
Select item 2189370	NM_002661.5(PLCG2):c.2089C>T (p.Arg697Trp)	PLCG2 (R697W)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 645934	NM_002661.5(PLCG2):c.2099G>A (p.Arg700Gln)	PLCG2 (R700Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1540187	NM_002661.5(PLCG2):c.2160C>T (p.Tyr720=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +1 more	GLikely benign
Select item 864609	NM_002661.5(PLCG2):c.2191C>A (p.Leu731Met)	PLCG2 (L731M)	Single nucleotide variant (missense variant)	PLCG2-related disorder +1 more	GUncertain significance
Select item 440161	NM_002661.5(PLCG2):c.2324A>G (p.Lys775Arg)	PLCG2 (K775R)	Single nucleotide variant (missense variant)	not provided +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 662769	NM_002661.5(PLCG2):c.2580C>T (p.Val860=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 656441	NM_002661.5(PLCG2):c.2581+10C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 747813	NM_002661.5(PLCG2):c.2655G>A (p.Pro885=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 540098	NM_002661.5(PLCG2):c.2660A>C (p.Glu887Ala)	PLCG2 (E887A)	Single nucleotide variant (missense variant)	PLCG2-related disorder +1 more	GUncertain significance
Select item 864018	NM_002661.5(PLCG2):c.2953G>A (p.Val985Ile)	PLCG2 (V985I)	Single nucleotide variant (missense variant)	PLCG2-related disorder +1 more	GUncertain significance
Select item 2637406	NM_002661.5(PLCG2):c.3302C>T (p.Thr1101Met)	PLCG2 (T1101M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +1 more	GUncertain significance
Select item 3030441	NM_002661.5(PLCG2):c.3314-7C>A	PLCG2	Single nucleotide variant (intron variant)	PLCG2-related disorder	GLikely benign
Select item 2628480	NM_002661.5(PLCG2):c.3340G>A (p.Ala1114Thr)	PLCG2 (A1114T)	Single nucleotide variant (missense variant)	PLCG2-related disorder	GUncertain significance
Select item 942697	NM_002661.5(PLCG2):c.3524T>C (p.Ile1175Thr)	PLCG2 (I1175T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3 +3 more	GUncertain significance
Select item 791740	NM_002661.5(PLCG2):c.3573G>A (p.Glu1191=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3 +2 more	GBenign/Likely benign
Select item 1606806	NM_002661.5(PLCG2):c.3576C>T (p.Ser1192=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder +1 more	GLikely benign
Select item 3061674	NM_002661.5(PLCG2):c.3597C>T (p.Ser1199=)	PLCG2	Single nucleotide variant (synonymous variant)	PLCG2-related disorder	GLikely benign

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Items: 46