"ITMI"[submitter] AND "TNFAIP3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135330	NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser)	TNFAIP3 (N102S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GBenign
Select item 135331	NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)	TNFAIP3 (T108A)	Single nucleotide variant (missense variant)	A20 haploinsufficiency +2 more	GBenign/Likely benign
Select item 135332	NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val)	TNFAIP3 (A125V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 135334	NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys)	TNFAIP3 (F127C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GBenign/Likely benign
Select item 135333	NM_001270508.2(TNFAIP3):c.484C>T (p.Arg162Trp)	TNFAIP3 (R162W)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135335	NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)	LOC126859807, TNFAIP3 (I207L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 135336	NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val)	LOC126859807, TNFAIP3 (I248V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 135337	NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln)	TNFAIP3 (R280Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GConflicting classifications of pathogenicity
Select item 135344	NM_001270508.2(TNFAIP3):c.1208T>C (p.Leu403Ser)	TNFAIP3 (L403S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135342	NM_001270508.2(TNFAIP3):c.1232G>A (p.Arg411Gln)	TNFAIP3 (R411Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135343	NM_001270508.2(TNFAIP3):c.1364G>A (p.Gly455Glu)	TNFAIP3 (G455E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135338	NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)	TNFAIP3 (A545V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135339	NM_001270508.2(TNFAIP3):c.1651C>T (p.Leu551Phe)	TNFAIP3 (L551F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135340	NM_001270508.2(TNFAIP3):c.1771C>G (p.Leu591Val)	TNFAIP3 (L591V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 135341	NM_001270508.2(TNFAIP3):c.1811C>G (p.Thr604Arg)	TNFAIP3 (T604R)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder +1 more	GUncertain significance
Select item 135345	NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro)	TNFAIP3 (T647P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135346	NM_001270508.2(TNFAIP3):c.2036T>C (p.Ile679Thr)	TNFAIP3 (I679T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135347	NM_001270508.2(TNFAIP3):c.2140C>G (p.Pro714Ala)	TNFAIP3 (P714A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135348	NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)	TNFAIP3 (G744D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GConflicting classifications of pathogenicity