7128[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 1399117	NM_001270508.2(TNFAIP3):c.16C>A (p.Leu6Ile)	TNFAIP3 (L6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028499	NM_001270508.2(TNFAIP3):c.22C>T (p.Gln8Ter)	TNFAIP3 (Q8*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome, familial, Behcet-like	GLikely pathogenic
Select item 809998	NM_001270508.2(TNFAIP3):c.23A>G (p.Gln8Arg)	TNFAIP3 (Q8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652531	NM_001270508.2(TNFAIP3):c.34T>C (p.Leu12=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567348	NM_001270508.2(TNFAIP3):c.36G>A (p.Leu12=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971135	NM_001270508.2(TNFAIP3):c.37A>G (p.Ser13Gly)	TNFAIP3 (S13G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1716233	NM_001270508.2(TNFAIP3):c.46C>T (p.Arg16Trp)	TNFAIP3 (R16W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663409	NM_001270508.2(TNFAIP3):c.60G>C (p.Lys20Asn)	TNFAIP3 (K20N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350116	NM_001270508.2(TNFAIP3):c.62T>C (p.Ile21Thr)	TNFAIP3 (I21T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2990779	NM_001270508.2(TNFAIP3):c.63A>T (p.Ile21=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399375	NM_001270508.2(TNFAIP3):c.65G>A (p.Arg22Gln)	TNFAIP3 (R22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416324	NM_001270508.2(TNFAIP3):c.74C>T (p.Thr25Ile)	TNFAIP3 (T25I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1453081	NM_001270508.2(TNFAIP3):c.90del (p.Phe30fs)	TNFAIP3 (F30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2969214	NM_001270508.2(TNFAIP3):c.87T>A (p.Ile29=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676039	NM_001270508.2(TNFAIP3):c.88T>C (p.Phe30Leu)	TNFAIP3 (F30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711639	NM_001270508.2(TNFAIP3):c.105del (p.Ile36fs)	TNFAIP3 (I36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2848637	NM_001270508.2(TNFAIP3):c.106A>C (p.Ile36Leu)	TNFAIP3 (I36L)	Single nucleotide variant (missense variant)	not provided	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 1453756	NM_001270508.2(TNFAIP3):c.120del (p.Phe40fs)	TNFAIP3 (F40fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2064452	NM_001270508.2(TNFAIP3):c.125C>G (p.Thr42Ser)	TNFAIP3 (T42S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1456817	NM_001270508.2(TNFAIP3):c.133C>T (p.Arg45Ter)	TNFAIP3 (R45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1990062	NM_001270508.2(TNFAIP3):c.134G>A (p.Arg45Gln)	TNFAIP3 (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775761	NM_001270508.2(TNFAIP3):c.141A>C (p.Thr47=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539022	NM_001270508.2(TNFAIP3):c.141A>G (p.Thr47=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333974	NM_001270508.2(TNFAIP3):c.155G>C (p.Arg52Thr)	TNFAIP3 (R52T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2015979	NM_001270508.2(TNFAIP3):c.158C>G (p.Thr53Ser)	TNFAIP3 (T53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012787	NM_001270508.2(TNFAIP3):c.163C>T (p.Gln55Ter)	TNFAIP3 (Q55*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1496061	NM_001270508.2(TNFAIP3):c.172C>A (p.Pro58Thr)	TNFAIP3 (P58T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1100318	NM_001270508.2(TNFAIP3):c.174T>G (p.Pro58=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319838	NM_001270508.2(TNFAIP3):c.176_177del (p.Gln59fs)	TNFAIP3 (Q59fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2431854	NM_001270508.2(TNFAIP3):c.181C>T (p.Arg61Trp)	TNFAIP3 (R61W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GUncertain significance
Select item 2972610	NM_001270508.2(TNFAIP3):c.182G>A (p.Arg61Gln)	TNFAIP3 (R61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768547	NM_001270508.2(TNFAIP3):c.187A>G (p.Ile63Val)	TNFAIP3 (I63V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198196	NM_001270508.2(TNFAIP3):c.193C>G (p.His65Asp)	TNFAIP3 (H65D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700852	NM_001270508.2(TNFAIP3):c.199G>A (p.Ala67Thr)	TNFAIP3 (A67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3393736	NM_001270508.2(TNFAIP3):c.202C>G (p.Leu68Val)	TNFAIP3 (L68V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446622	NM_001270508.2(TNFAIP3):c.202C>T (p.Leu68Phe)	TNFAIP3 (L68F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695166	NM_001270508.2(TNFAIP3):c.207C>G (p.Ile69Met)	TNFAIP3 (I69M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1666582	NM_001270508.2(TNFAIP3):c.207C>T (p.Ile69=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717431	NM_001270508.2(TNFAIP3):c.218T>C (p.Ile73Thr)	TNFAIP3 (I73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001796	NM_001270508.2(TNFAIP3):c.221A>C (p.Gln74Pro)	TNFAIP3 (Q74P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385222	NM_001270508.2(TNFAIP3):c.224_225dup (p.Thr76fs)	TNFAIP3 (T76fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1031619	NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile)	TNFAIP3 (T76I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like +1 more	GUncertain significance
Select item 2068888	NM_001270508.2(TNFAIP3):c.235del (p.Ser79fs)	TNFAIP3 (S79fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1487489	NM_001270508.2(TNFAIP3):c.237C>G (p.Ser79Arg)	TNFAIP3 (S79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162009	NM_001270508.2(TNFAIP3):c.239A>G (p.Gln80Arg)	TNFAIP3 (Q80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635517	NM_001270508.2(TNFAIP3):c.249C>T (p.Leu83=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257888	NM_001270508.2(TNFAIP3):c.255G>A (p.Trp85Ter)	TNFAIP3 (W85*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 2585610	NM_001270508.2(TNFAIP3):c.260G>A (p.Arg87Gln)	TNFAIP3 (R87Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GUncertain significance
Select item 1423360	NM_001270508.2(TNFAIP3):c.268C>T (p.Arg90Trp)	TNFAIP3 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960499	NM_001270508.2(TNFAIP3):c.269G>A (p.Arg90Gln)	TNFAIP3 (R90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985467	NM_001270508.2(TNFAIP3):c.270G>A (p.Arg90=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571104	NM_001270508.2(TNFAIP3):c.279G>C (p.Val93=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699322	NM_001270508.2(TNFAIP3):c.281C>A (p.Ala94Glu)	TNFAIP3 (A94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521312	NM_001270508.2(TNFAIP3):c.281C>T (p.Ala94Val)	TNFAIP3 (A94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643095	NM_001270508.2(TNFAIP3):c.282G>A (p.Ala94=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2851225	NM_001270508.2(TNFAIP3):c.285G>A (p.Leu95=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920996	NM_001270508.2(TNFAIP3):c.291G>A (p.Thr97=)	TNFAIP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome, familial, Behcet-like 1	GLikely benign
Select item 2189843	NM_001270508.2(TNFAIP3):c.294C>T (p.Asn98=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 720796	NM_001270508.2(TNFAIP3):c.295+8T>C	TNFAIP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1591047	NM_001270508.2(TNFAIP3):c.295+11T>C	TNFAIP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome, familial, Behcet-like 1 +1 more	GBenign/Likely benign
Select item 1221925	NM_001270508.2(TNFAIP3):c.295+86G>A	TNFAIP3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1262636	NM_001270508.2(TNFAIP3):c.295+102A>G	TNFAIP3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 993326	NM_001270508.2(TNFAIP3):c.296-15_296-13del	TNFAIP3	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 2980533	NM_001270508.2(TNFAIP3):c.296-17C>G	TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634450	NM_001270508.2(TNFAIP3):c.296-15C>T	TNFAIP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1489383	NM_001270508.2(TNFAIP3):c.296-5C>G	TNFAIP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1558487	NM_001270508.2(TNFAIP3):c.300C>T (p.Asp100=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304633	NM_001270508.2(TNFAIP3):c.301G>A (p.Gly101Ser)	TNFAIP3 (G101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2755159	NM_001270508.2(TNFAIP3):c.313A>C (p.Met105Leu)	TNFAIP3 (M105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359279	NM_001270508.2(TNFAIP3):c.313A>T (p.Met105Leu)	TNFAIP3 (M105L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135331	NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)	TNFAIP3 (T108A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1392203	NM_001270508.2(TNFAIP3):c.343G>A (p.Val115Ile)	TNFAIP3 (V115I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109776	NM_001270508.2(TNFAIP3):c.349del (p.Asp117fs)	TNFAIP3 (D117fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1662569	NM_001270508.2(TNFAIP3):c.361G>A (p.Val121Ile)	TNFAIP3 (V121I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1533875	NM_001270508.2(TNFAIP3):c.366G>C (p.Leu122=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717931	NM_001270508.2(TNFAIP3):c.372G>T (p.Lys124Asn)	TNFAIP3 (K124N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3010546	NM_001270508.2(TNFAIP3):c.386C>T (p.Thr129Met)	TNFAIP3 (T129M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137624	NM_001270508.2(TNFAIP3):c.387G>A (p.Thr129=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852553	NM_001270508.2(TNFAIP3):c.390C>T (p.Leu130=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559476	NM_001270508.2(TNFAIP3):c.390C>G (p.Leu130=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370874	NM_001270508.2(TNFAIP3):c.406C>T (p.Arg136Cys)	TNFAIP3 (R136C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2723316	NM_001270508.2(TNFAIP3):c.407G>A (p.Arg136His)	TNFAIP3 (R136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103562	NM_001270508.2(TNFAIP3):c.420C>T (p.Phe140=)	TNFAIP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676040	NM_001270508.2(TNFAIP3):c.421C>T (p.Arg141Cys)	TNFAIP3 (R141C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972563	NM_001270508.2(TNFAIP3):c.422G>A (p.Arg141His)	TNFAIP3 (R141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577872	NM_001270508.2(TNFAIP3):c.425G>A (p.Trp142Ter)	TNFAIP3 (W142*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome, familial, Behcet-like 1	GLikely pathogenic
Select item 1721212	NM_001270508.2(TNFAIP3):c.440T>A (p.Leu147His)	TNFAIP3 (L147H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844972	NM_001270508.2(TNFAIP3):c.448C>T (p.Gln150Ter)	TNFAIP3 (Q150*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1507091	NM_001270508.2(TNFAIP3):c.449A>G (p.Gln150Arg)	TNFAIP3 (Q150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400308	NM_001270508.2(TNFAIP3):c.468dup (p.Leu157fs)	TNFAIP3 (L157fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1351529	NM_001270508.2(TNFAIP3):c.464C>T (p.Thr155Met)	TNFAIP3 (T155M)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance

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