Related gene-specific medical variations for Gene (Select 7128) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064976	NM_001270508.2(TNFAIP3):c.2137A>G (p.Arg713Gly)	TNFAIP3 (R713G)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 3064838	NM_001270508.2(TNFAIP3):c.872T>G (p.Leu291Trp)	TNFAIP3 (L291W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 3061469	NM_001270508.2(TNFAIP3):c.636C>T (p.Asp212=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related condition	GLikely benign
Select item 3023237	NM_001270508.2(TNFAIP3):c.635-16_635-13del	LOC126859807, TNFAIP3	Deletion (intron variant)	not provided	GLikely benign
Select item 2996083	NM_001270508.2(TNFAIP3):c.663T>C (p.Gly221=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960884	NM_001270508.2(TNFAIP3):c.606C>T (p.Ile202=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2904101	NM_001270508.2(TNFAIP3):c.805+10C>A	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884630	NM_001270508.2(TNFAIP3):c.669T>A (p.Asn223Lys)	LOC126859807, TNFAIP3 (N223K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851754	NM_001270508.2(TNFAIP3):c.487-3T>C	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2842180	NM_001270508.2(TNFAIP3):c.691G>A (p.Gly231Arg)	LOC126859807, TNFAIP3 (G231R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829212	NM_001270508.2(TNFAIP3):c.775C>T (p.Pro259Ser)	LOC126859807, TNFAIP3 (P259S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822047	NM_001270508.2(TNFAIP3):c.504G>C (p.Trp168Cys)	LOC126859807, TNFAIP3 (W168C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811617	NM_001270508.2(TNFAIP3):c.634+10C>A	TNFAIP3, LOC126859807	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2802052	NM_001270508.2(TNFAIP3):c.635-17T>C	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798717	NM_001270508.2(TNFAIP3):c.598T>G (p.Cys200Gly)	LOC126859807, TNFAIP3 (C200G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797900	NM_001270508.2(TNFAIP3):c.646A>C (p.Arg216=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794651	NM_001270508.2(TNFAIP3):c.527C>T (p.Ser176Phe)	LOC126859807, TNFAIP3 (S176F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789536	NM_001270508.2(TNFAIP3):c.757G>T (p.Asp253Tyr)	LOC126859807, TNFAIP3 (D253Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787763	NM_001270508.2(TNFAIP3):c.636C>A (p.Asp212Glu)	LOC126859807, TNFAIP3 (D212E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754085	NM_001270508.2(TNFAIP3):c.688G>A (p.Gly230Ser)	LOC126859807, TNFAIP3 (G230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656935	NM_001270508.2(TNFAIP3):c.805+3G>A	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2437131	NM_001270508.2(TNFAIP3):c.649A>C (p.Ser217Arg)	LOC126859807, TNFAIP3 (S217R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 2437130	NM_001270508.2(TNFAIP3):c.1474A>C (p.Asn492His)	TNFAIP3 (N492H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 2437129	NM_001270508.2(TNFAIP3):c.113A>G (p.His38Arg)	TNFAIP3 (H38R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 2178424	NM_001270508.2(TNFAIP3):c.751G>A (p.Gly251Ser)	LOC126859807, TNFAIP3 (G251S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175373	NM_001270508.2(TNFAIP3):c.634+6A>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2133825	NM_001270508.2(TNFAIP3):c.626T>G (p.Val209Gly)	LOC126859807, TNFAIP3 (V209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117890	NM_001270508.2(TNFAIP3):c.802C>T (p.Pro268Ser)	LOC126859807, TNFAIP3 (P268S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102693	NM_001270508.2(TNFAIP3):c.640dup (p.Met214fs)	LOC126859807, TNFAIP3 (M214fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2083357	NM_001270508.2(TNFAIP3):c.672C>A (p.Phe224Leu)	LOC126859807, TNFAIP3 (F224L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2066441	NM_001270508.2(TNFAIP3):c.748C>T (p.Leu250Phe)	LOC126859807, TNFAIP3 (L250F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032945	NM_001270508.2(TNFAIP3):c.599del (p.Cys200fs)	LOC126859807, TNFAIP3 (C200fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2004544	NM_001270508.2(TNFAIP3):c.509A>G (p.Asn170Ser)	LOC126859807, TNFAIP3 (N170S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2004116	NM_001270508.2(TNFAIP3):c.804T>C (p.Pro268=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1994622	NM_001270508.2(TNFAIP3):c.740C>T (p.Pro247Leu)	LOC126859807, TNFAIP3 (P247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949134	NM_001270508.2(TNFAIP3):c.487-11G>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942280	NM_001270508.2(TNFAIP3):c.772G>A (p.Val258Ile)	LOC126859807, TNFAIP3 (V258I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941150	NM_001270508.2(TNFAIP3):c.805+13C>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938354	NM_001270508.2(TNFAIP3):c.487-11G>A	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935569	NM_001270508.2(TNFAIP3):c.634+20C>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927073	NM_001270508.2(TNFAIP3):c.805+12G>A	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905065	NM_001270508.2(TNFAIP3):c.487-12C>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705586	NM_001270508.2(TNFAIP3):c.738C>G (p.Tyr246Ter)	LOC126859807, TNFAIP3 (Y246*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome, familial, Behcet-like 1	GLikely pathogenic
Select item 1698937	NM_001270508.2(TNFAIP3):c.547C>G (p.Arg183Gly)	LOC126859807, TNFAIP3 (R183G)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 1636435	NM_001270508.2(TNFAIP3):c.759C>T (p.Asp253=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	TNFAIP3-related condition +1 more	GBenign/Likely benign
Select item 1595478	NM_001270508.2(TNFAIP3):c.552T>C (p.Ser184=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587370	NM_001270508.2(TNFAIP3):c.672C>T (p.Phe224=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548638	NM_001270508.2(TNFAIP3):c.613A>C (p.Arg205=)	LOC126859807, TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520509	NM_001270508.2(TNFAIP3):c.551G>A (p.Ser184Asn)	TNFAIP3, LOC126859807 (S184N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1506297	NM_001270508.2(TNFAIP3):c.542T>C (p.Met181Thr)	LOC126859807, TNFAIP3 (M181T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428578	NM_001270508.2(TNFAIP3):c.547C>T (p.Arg183Ter)	LOC126859807, TNFAIP3 (R183*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1414371	NM_001270508.2(TNFAIP3):c.586A>G (p.Ile196Val)	LOC126859807, TNFAIP3 (I196V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1387760	NM_001270508.2(TNFAIP3):c.673G>A (p.Ala225Thr)	TNFAIP3, LOC126859807 (A225T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372695	NM_001270508.2(TNFAIP3):c.656A>G (p.Glu219Gly)	LOC126859807, TNFAIP3 (E219G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1352076	NM_001270508.2(TNFAIP3):c.548G>A (p.Arg183Gln)	LOC126859807, TNFAIP3 (R183Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319838	NM_001270508.2(TNFAIP3):c.176_177del (p.Gln59fs)	TNFAIP3 (Q59fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1319261	NM_001270508.2(TNFAIP3):c.1853C>A (p.Pro618Gln)	TNFAIP3 (P618Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304478	NM_001270508.2(TNFAIP3):c.625G>T (p.Val209Phe)	LOC126859807, TNFAIP3 (V209F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299050	NM_001270508.2(TNFAIP3):c.714G>A (p.Trp238Ter)	LOC126859807, TNFAIP3 (W238*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1281403	NM_001270508.2(TNFAIP3):c.805+28A>C	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1250083	NM_001270508.2(TNFAIP3):c.805+26C>T	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1003848	NM_001270508.2(TNFAIP3):c.805+5G>A	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 998175	Single allele	TNFAIP3	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 995597	NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu)	TNFAIP3 (P294L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like	GUncertain significance
Select item 994249	NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr)	TNFAIP3 (A610T)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like	GUncertain significance
Select item 769695	NM_001270508.2(TNFAIP3):c.487-8C>G	LOC126859807, TNFAIP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GBenign
Select item 694368	GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1	TNFAIP3	Copy number loss	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 636736	NM_001270508.2(TNFAIP3):c.199G>T (p.Ala67Ser)	TNFAIP3 (A67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445906	NM_001270508.2(TNFAIP3):c.727T>C (p.Cys243Arg)	LOC126859807, TNFAIP3 (C243R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 219113	NM_001270508.2(TNFAIP3):c.801del (p.Pro268fs)	LOC126859807, TNFAIP3 (P268fs)	Deletion (frameshift variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GPathogenic
Select item 219109	NM_001270508.2(TNFAIP3):c.671del (p.Phe224fs)	LOC126859807, TNFAIP3 (F224fs)	Deletion (frameshift variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GPathogenic
Select item 219108	NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter)	LOC126859807, TNFAIP3 (L227*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome, familial, Behcet-like 1	GPathogenic
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 135343	NM_001270508.2(TNFAIP3):c.1364G>A (p.Gly455Glu)	TNFAIP3 (G455E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135336	NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val)	LOC126859807, TNFAIP3 (I248V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like +1 more	GUncertain significance
Select item 135335	NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)	TNFAIP3, LOC126859807 (I207L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +2 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

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Items: 77