11927[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 624091	NM_003809.3(TNFSF12):c.6C>G (p.Ala2=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 861833	NM_003809.3(TNFSF12):c.23G>A (p.Arg8Lys)	LOC130060153, TNFSF12 +1 more (R8K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1443273	NM_003809.3(TNFSF12):c.26G>A (p.Arg9Gln)	LOC130060153, TNFSF12 +1 more (R9Q)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 1495617	NM_003809.3(TNFSF12):c.35G>C (p.Arg12Pro)	LOC130060153, TNFSF12 +1 more (R12P)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1061548	NM_003809.3(TNFSF12):c.38G>A (p.Arg13Gln)	LOC130060153, TNFSF12 +1 more (R13Q)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 526013	NM_003809.3(TNFSF12):c.42G>A (p.Gly14=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 526011	NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys)	LOC130060153, TNFSF12 +1 more (E15K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency +2 more	GUncertain significance
Select item 1436026	NM_003809.3(TNFSF12):c.46C>A (p.Pro16Thr)	LOC130060153, TNFSF12 +1 more (P16T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 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 1524145	NM_003809.3(TNFSF12):c.55G>A (p.Ala19Thr)	LOC130060153, TNFSF12 +1 more (A19T)	Single nucleotide variant (missense variant +1 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 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 1086838	NM_003809.3(TNFSF12):c.60G>T (p.Leu20=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 657607	NM_003809.3(TNFSF12):c.64G>C (p.Val22Leu)	LOC130060153, TNFSF12 +1 more (V22L)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1414300	NM_003809.3(TNFSF12):c.68C>T (p.Pro23Leu)	LOC130060153, TNFSF12 +1 more (P23L)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 1168780	NM_003809.3(TNFSF12):c.72C>T (p.Leu24=)	LOC130060153, TNFSF12 +1 more	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency +1 more	GBenign
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 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 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 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 1435998	NM_003809.3(TNFSF12):c.88C>G (p.Leu30Val)	LOC130060153, TNFSF12 +1 more (L30V)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 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 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 1668889	NM_003809.3(TNFSF12):c.105C>G (p.Leu35=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1667865	NM_003809.3(TNFSF12):c.105C>T (p.Leu35=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1009091	NM_003809.3(TNFSF12):c.106G>A (p.Gly36Ser)	TNFSF12, TNFSF12-TNFSF13 (G36S)	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 1140734	NM_003809.3(TNFSF12):c.108C>T (p.Gly36=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 849246	NM_003809.3(TNFSF12):c.109C>T (p.Leu37Phe)	TNFSF12, TNFSF12-TNFSF13 (L37F)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 1379094	NM_003809.3(TNFSF12):c.128G>A (p.Ser43Asn)	TNFSF12, TNFSF12-TNFSF13 (S43N)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1352104	NM_003809.3(TNFSF12):c.134G>A (p.Gly45Glu)	TNFSF12, TNFSF12-TNFSF13 (G45E)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1412843	NM_003809.3(TNFSF12):c.137G>C (p.Ser46Thr)	TNFSF12, TNFSF12-TNFSF13 (S46T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 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 794476	NM_003809.3(TNFSF12):c.139C>A (p.Arg47=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1151467	NM_003809.3(TNFSF12):c.141G>T (p.Arg47=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 946878	NM_003809.3(TNFSF12):c.142G>C (p.Ala48Pro)	TNFSF12, TNFSF12-TNFSF13 (A48P)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1515042	NM_003809.3(TNFSF12):c.143C>T (p.Ala48Val)	TNFSF12, TNFSF12-TNFSF13 (A48V)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1533805	NM_003809.3(TNFSF12):c.147G>A (p.Ser49=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1039776	NM_003809.3(TNFSF12):c.154G>A (p.Ala52Thr)	TNFSF12, TNFSF12-TNFSF13 (A52T)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1486422	NM_003809.3(TNFSF12):c.157C>A (p.Gln53Lys)	TNFSF12, TNFSF12-TNFSF13 (Q53K)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 847863	NM_003809.3(TNFSF12):c.159+5G>C	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GUncertain significance
Select item 1546182	NM_003809.3(TNFSF12):c.159+7C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 743715	NM_003809.3(TNFSF12):c.159+7C>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1587485	NM_003809.3(TNFSF12):c.159+11G>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1616616	NM_003809.3(TNFSF12):c.159+15C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 2688230	NM_003809.3(TNFSF12):c.160-39G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	not specified	GBenign
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 1167771	NM_003809.3(TNFSF12):c.160-19G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GBenign
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 2159038	NM_003809.3(TNFSF12):c.160-14C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1519978	NM_003809.3(TNFSF12):c.164C>T (p.Pro55Leu)	TNFSF12, TNFSF12-TNFSF13 (P55L)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 567668	NM_003809.3(TNFSF12):c.177G>C (p.Glu59Asp)	TNFSF12, TNFSF12-TNFSF13 (E59D)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1135594	NM_003809.3(TNFSF12):c.186A>G (p.Ala62=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
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 1436035	NM_003809.3(TNFSF12):c.189GGA[1] (p.Glu64del)	TNFSF12-TNFSF13, TNFSF12 (E64del)	Microsatellite (inframe_deletion +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 834165	NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala)	TNFSF12, TNFSF12-TNFSF13 (D65A)	Single nucleotide variant (missense variant +1 more)	Common variable immunodeficiency	GUncertain significance
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 1362337	NM_003809.3(TNFSF12):c.197A>G (p.Gln66Arg)	TNFSF12, TNFSF12-TNFSF13 (Q66R)	Single nucleotide variant (missense variant +1 more)	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 568170	NM_003809.3(TNFSF12):c.205_207dup (p.Ser69_Glu70insSer)	TNFSF12, TNFSF12-TNFSF13	Duplication (inframe_insertion +1 more)	Common variable immunodeficiency	GUncertain significance
Select item 1169192	NM_003809.3(TNFSF12):c.204G>A (p.Pro68=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GBenign
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 1944739	NM_003809.3(TNFSF12):c.207+10C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1534132	NM_003809.3(TNFSF12):c.207+11G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	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 1968196	NM_003809.3(TNFSF12):c.207+17G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	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 3018031	NM_003809.3(TNFSF12):c.207+19G>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
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 2801826	NM_003809.3(TNFSF12):c.208-15C>T	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1154006	NM_003809.3(TNFSF12):c.208-8T>A	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	GLikely benign
Select item 1093607	NM_003809.3(TNFSF12):c.208-7C>G	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (intron variant)	Common variable immunodeficiency	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 1158973	NM_003809.3(TNFSF12):c.219C>G (p.Pro73=)	TNFSF12, TNFSF12-TNFSF13	Single nucleotide variant (synonymous variant +1 more)	Common variable immunodeficiency	GLikely benign
Select item 1016050	NM_003809.3(TNFSF12):c.222G>C (p.Gln74His)	TNFSF12, TNFSF12-TNFSF13 (Q74H)	Single nucleotide variant (missense variant +1 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 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 933662	NM_003809.3(TNFSF12):c.245C>T (p.Ala82Val)	TNFSF12, TNFSF12-TNFSF13 (A82V)	Single nucleotide variant (missense variant +1 more)	TNFSF12-related disorder +1 more	GUncertain significance
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 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 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 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

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