"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNFAIP3"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720796	NM_001270508.2(TNFAIP3):c.295+8T>C	TNFAIP3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3061469	NM_001270508.2(TNFAIP3):c.636C>T (p.Asp212=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder	GLikely benign
Select item 1636435	NM_001270508.2(TNFAIP3):c.759C>T (p.Asp253=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder +1 more	GBenign/Likely benign
Select item 2633542	NM_001270508.2(TNFAIP3):c.875C>T (p.Thr292Ile)	TNFAIP3 (T292I)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder	GUncertain significance
Select item 2879368	NM_001270508.2(TNFAIP3):c.1368G>A (p.Gly456=)	TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder +1 more	GLikely benign
Select item 3032328	NM_001270508.2(TNFAIP3):c.1499A>G (p.Asn500Ser)	TNFAIP3 (N500S)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder	GUncertain significance
Select item 135338	NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)	TNFAIP3 (A545V)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3052846	NM_001270508.2(TNFAIP3):c.1710C>A (p.Leu570=)	TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder	GLikely benign
Select item 1599397	NM_001270508.2(TNFAIP3):c.1728G>A (p.Pro576=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3042697	NM_001270508.2(TNFAIP3):c.1809G>A (p.Gly603=)	TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder	GLikely benign
Select item 1909809	NM_001270508.2(TNFAIP3):c.1811C>T (p.Thr604Met)	TNFAIP3 (T604M)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder +1 more	GUncertain significance
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 1012788	NM_001270508.2(TNFAIP3):c.1864G>A (p.Gly622Ser)	TNFAIP3 (G622S)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder +1 more	GUncertain significance
Select item 3030450	NM_001270508.2(TNFAIP3):c.2076A>G (p.Thr692=)	TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related disorder	GLikely benign
Select item 3060117	NM_001270508.2(TNFAIP3):c.2088+3G>A	TNFAIP3	Single nucleotide variant (intron variant)	TNFAIP3-related disorder	GLikely benign
Select item 711037	NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=)	TNFAIP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome, familial, Behcet-like +2 more	GBenign
Select item 135348	NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)	TNFAIP3 (G744D)	Single nucleotide variant (missense variant)	TNFAIP3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2420666	NM_001270508.2(TNFAIP3):c.2281C>T (p.Arg761Cys)	TNFAIP3 (R761C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1096311	NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)	TNFAIP3 (M788I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +2 more	GConflicting classifications of pathogenicity