ClinVar for Gene (Select 8742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3018031	NM_003809.3(TNFSF12):c.207+19G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2997424	NM_003809.3(TNFSF12):c.90G>A (p.Leu30=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2988315	NM_003809.3(TNFSF12):c.350C>A (p.Pro117His)	TNFSF12, TNFSF12-TNFSF13 (P117H)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2984818	NM_003809.3(TNFSF12):c.80GCCTGG[3] (p.Leu30_Ala31insGlyLeu)	TNFSF12, TNFSF12-TNFSF13 +1 more	Microsatellite (inframe_insertion +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2980504	NM_003809.3(TNFSF12):c.451G>A (p.Gly151Arg)	TNFSF12, TNFSF12-TNFSF13 (G151R)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2971398	NM_003809.3(TNFSF12):c.208-19C>G	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2966756	NM_003809.3(TNFSF12):c.402G>A (p.Glu134=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2957641	NM_003809.3(TNFSF12):c.247C>A (p.Pro83Thr)	TNFSF12, TNFSF12-TNFSF13 (P83T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2955715	NM_003809.3(TNFSF12):c.109del (p.Leu37fs)	TNFSF12, TNFSF12-TNFSF13 (L37fs)	Deletion (frameshift variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2912513	NM_003809.3(TNFSF12):c.376G>A (p.Val126Met)	TNFSF12, TNFSF12-TNFSF13 (V126M)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2902962	NM_003809.3(TNFSF12):c.412A>C (p.Ile138Leu)	TNFSF12, TNFSF12-TNFSF13 (I138L)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2897796	NM_003809.3(TNFSF12):c.316G>A (p.Ala106Thr)	TNFSF12, TNFSF12-TNFSF13 (A106T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2895299	NM_003809.3(TNFSF12):c.190G>A (p.Glu64Lys)	TNFSF12, TNFSF12-TNFSF13 (E64K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2895010	NM_003809.3(TNFSF12):c.337+7G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2893308	NM_003809.3(TNFSF12):c.246G>A (p.Ala82=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2892380	NM_003809.3(TNFSF12):c.373+17C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2891125	NM_003809.3(TNFSF12):c.159+3G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GUncertain significance
Select item 2889263	NM_003809.3(TNFSF12):c.249T>C (p.Pro83=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2888953	NM_003809.3(TNFSF12):c.360C>T (p.Asp120=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2888154	NM_003809.3(TNFSF12):c.208-3T>C	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GUncertain significance
Select item 2886819	NM_003809.3(TNFSF12):c.201C>A (p.Asp67Glu)	TNFSF12, TNFSF12-TNFSF13 (D67E)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2884637	NM_003809.3(TNFSF12):c.11G>C (p.Arg4Pro)	TNFSF12, TNFSF12-TNFSF13 (R4P)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2880983	NM_003809.3(TNFSF12):c.600G>A (p.Ala200=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2877171	NM_003809.3(TNFSF12):c.657G>A (p.Arg219=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2871639	NM_003809.3(TNFSF12):c.498+7C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2852916	NM_003809.3(TNFSF12):c.196C>T (p.Gln66Ter)	TNFSF12, TNFSF12-TNFSF13 (Q66*)	Single nucleotide variant (nonsense +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2838265	NM_003809.3(TNFSF12):c.187G>A (p.Glu63Lys)	TNFSF12, TNFSF12-TNFSF13 (E63K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2837891	NM_003809.3(TNFSF12):c.739C>A (p.Gln247Lys)	TNFSF12, TNFSF12-TNFSF13 (Q247K)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2825176	NM_003809.3(TNFSF12):c.337+16G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2824425	NM_003809.3(TNFSF12):c.607C>T (p.Leu203Phe)	TNFSF12, TNFSF12-TNFSF13 (L203F)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2816290	NM_003809.3(TNFSF12):c.393T>C (p.Ser131=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2814558	NM_003809.3(TNFSF12):c.51C>A (p.Gly17=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2810433	NM_003809.3(TNFSF12):c.139C>G (p.Arg47Gly)	TNFSF12, TNFSF12-TNFSF13 (R47G)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2803813	NM_003809.3(TNFSF12):c.80GCCTGG[1] (p.27GL[1])	LOC130060153, TNFSF12 +1 more	Microsatellite (inframe_deletion +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2801826	NM_003809.3(TNFSF12):c.208-15C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2793012	NM_003809.3(TNFSF12):c.718C>T (p.Leu240Phe)	TNFSF12, TNFSF12-TNFSF13 (L240F)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2778507	NM_003809.3(TNFSF12):c.242C>T (p.Pro81Leu)	TNFSF12, TNFSF12-TNFSF13 (P81L)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2778236	NM_003809.3(TNFSF12):c.258C>T (p.Asn86=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2776332	NM_003809.3(TNFSF12):c.80G>T (p.Gly27Val)	LOC130060153, TNFSF12 +1 more (G27V)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2767235	NM_003809.3(TNFSF12):c.375T>G (p.Gly125=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2765680	NM_003809.3(TNFSF12):c.54C>T (p.Thr18=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2754392	NM_003809.3(TNFSF12):c.730G>A (p.Gly244Arg)	TNFSF12, TNFSF12-TNFSF13 (G244R)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2753615	NM_003809.3(TNFSF12):c.465C>T (p.Val155=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2747887	NM_003809.3(TNFSF12):c.498+12C>G	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2739988	NM_003809.3(TNFSF12):c.29G>C (p.Arg10Thr)	LOC130060153, TNFSF12 +1 more (R10T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2738021	NM_003809.3(TNFSF12):c.624C>A (p.Arg208=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2733571	NM_003809.3(TNFSF12):c.69G>A (p.Pro23=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2731668	NM_003809.3(TNFSF12):c.120C>T (p.Ala40=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2720354	NM_003809.3(TNFSF12):c.361G>A (p.Gly121Arg)	TNFSF12, TNFSF12-TNFSF13 (G121R)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2717093	NM_003809.3(TNFSF12):c.288T>G (p.Pro96=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2714817	NM_003809.3(TNFSF12):c.93G>A (p.Ala31=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2707422	NM_003809.3(TNFSF12):c.655C>G (p.Arg219Gly)	TNFSF12, TNFSF12-TNFSF13 (R219G)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2704997	NM_003809.3(TNFSF12):c.96G>A (p.Leu32=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2703005	NM_003809.3(TNFSF12):c.454G>A (p.Glu152Lys)	TNFSF12, TNFSF12-TNFSF13 (E152K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2702294	NM_003809.3(TNFSF12):c.295C>G (p.Arg99Gly)	TNFSF12, TNFSF12-TNFSF13 (R99G)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2699408	NM_003809.3(TNFSF12):c.629G>T (p.Cys210Phe)	TNFSF12, TNFSF12-TNFSF13 (C210F)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2688230	NM_003809.3(TNFSF12):c.160-39G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2535301	NM_003809.3(TNFSF12):c.647T>C (p.Leu216Ser)	TNFSF12, TNFSF12-TNFSF13 (L216S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2418271	NM_003809.3(TNFSF12):c.687C>T (p.Leu229=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2180355	NM_003809.3(TNFSF12):c.207+18C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2175198	NM_003809.3(TNFSF12):c.274C>G (p.Arg92Gly)	TNFSF12, TNFSF12-TNFSF13 (R92G)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2170089	NM_003809.3(TNFSF12):c.160-16C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2170088	NM_003809.3(TNFSF12):c.160-21_160-17del	TNFSF12, TNFSF12-TNFSF13	Deletion (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2166425	NM_003809.3(TNFSF12):c.310C>G (p.Arg104Gly)	TNFSF12, TNFSF12-TNFSF13 (R104G)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2159038	NM_003809.3(TNFSF12):c.160-14C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2155587	NM_003809.3(TNFSF12):c.499-8del	TNFSF12, TNFSF12-TNFSF13	Deletion (intron variant)	Common variable immunodeficiency	GBenign
Select item 2139979	NM_003809.3(TNFSF12):c.417C>T (p.Asn139=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2107884	NM_003809.3(TNFSF12):c.651C>T (p.Ala217=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2105203	NM_003809.3(TNFSF12):c.528C>A (p.Tyr176Ter)	TNFSF12, TNFSF12-TNFSF13 (Y176*)	Single nucleotide variant (nonsense +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2102164	NM_003809.3(TNFSF12):c.573C>T (p.Cys191=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +2 more)	Common variable immunodeficiency	GLikely benign
Select item 2100159	NM_003809.3(TNFSF12):c.60G>C (p.Leu20=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2060601	NM_003809.3(TNFSF12):c.503A>C (p.His168Pro)	TNFSF12, TNFSF12-TNFSF13 (H168P)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 2060580	NM_003809.3(TNFSF12):c.470G>A (p.Arg157Gln)	TNFSF12, TNFSF12-TNFSF13 (R157Q)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2054553	NM_003809.3(TNFSF12):c.259C>T (p.Arg87Ter)	TNFSF12, TNFSF12-TNFSF13 (R87*)	Single nucleotide variant (nonsense +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 2041367	NM_003809.3(TNFSF12):c.243T>C (p.Pro81=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 2039002	NM_003809.3(TNFSF12):c.207+14G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2008392	NM_003809.3(TNFSF12):c.323C>T (p.Ala108Val)	TNFSF12, TNFSF12-TNFSF13 (A108V)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1991616	NM_003809.3(TNFSF12):c.713C>G (p.Pro238Arg)	TNFSF12, TNFSF12-TNFSF13 (P238R)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 1986595	NM_003809.3(TNFSF12):c.680G>A (p.Arg227His)	TNFSF12, TNFSF12-TNFSF13 (R227H)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 1980032	NM_003809.3(TNFSF12):c.438C>T (p.Tyr146=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1969405	NM_003809.3(TNFSF12):c.610G>C (p.Gly204Arg)	TNFSF12, TNFSF12-TNFSF13 (G204R)	Single nucleotide variant (missense variant +2 more)	Common variable immunodeficiency	GUncertain significance
Select item 1968346	NM_003809.3(TNFSF12):c.59T>C (p.Leu20Pro)	LOC130060153, TNFSF12 +1 more (L20P)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1968196	NM_003809.3(TNFSF12):c.207+17G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1964512	NM_003809.3(TNFSF12):c.373+18G>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1959875	NM_003809.3(TNFSF12):c.207+3G>C	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GUncertain significance
Select item 1949856	NM_003809.3(TNFSF12):c.284-3C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GUncertain significance
Select item 1944739	NM_003809.3(TNFSF12):c.207+10C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1935643	NM_003809.3(TNFSF12):c.139C>T (p.Arg47Trp)	TNFSF12, TNFSF12-TNFSF13 (R47W)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1929055	NM_003809.3(TNFSF12):c.87C>T (p.Gly29=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1916900	NM_003809.3(TNFSF12):c.358G>A (p.Asp120Asn)	TNFSF12, TNFSF12-TNFSF13 (D120N)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance

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