ClinVar for Gene (Select 3604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3014646	NM_001561.6(TNFRSF9):c.663G>A (p.Leu221=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012278	NM_001561.6(TNFRSF9):c.413+2T>C	TNFRSF9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3007632	NM_001561.6(TNFRSF9):c.609G>A (p.Leu203=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007200	NM_001561.6(TNFRSF9):c.579G>T (p.Ala193=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994946	NM_001561.6(TNFRSF9):c.208+17A>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990927	NM_001561.6(TNFRSF9):c.36G>C (p.Leu12=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990008	NM_001561.6(TNFRSF9):c.347-20G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988687	NM_001561.6(TNFRSF9):c.345dup (p.Gly116fs)	TNFRSF9 (G116fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2985593	NM_001561.6(TNFRSF9):c.388C>T (p.Arg130Cys)	TNFRSF9 (R130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966470	NM_001561.6(TNFRSF9):c.680-8T>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966361	NM_001561.6(TNFRSF9):c.544+8_544+12dup	TNFRSF9	Duplication (intron variant)	not provided	GLikely benign
Select item 2963161	NM_001561.6(TNFRSF9):c.209-18G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959771	NM_001561.6(TNFRSF9):c.413+20G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908895	NM_001561.6(TNFRSF9):c.209-4G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871174	NM_001561.6(TNFRSF9):c.355G>C (p.Asp119His)	TNFRSF9 (D119H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858619	NM_001561.6(TNFRSF9):c.510C>T (p.Ser170=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837189	NM_001561.6(TNFRSF9):c.544+8G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836763	NM_001561.6(TNFRSF9):c.347-15C>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825757	NM_001561.6(TNFRSF9):c.45C>T (p.Val15=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815447	NM_001561.6(TNFRSF9):c.405C>T (p.Pro135=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809897	NM_001561.6(TNFRSF9):c.545-11G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808660	NM_001561.6(TNFRSF9):c.522G>A (p.Pro174=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790765	NM_001561.6(TNFRSF9):c.391_392delinsAT (p.Gly131Ile)	TNFRSF9 (G131I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2785781	NM_001561.6(TNFRSF9):c.414-4T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784998	NM_001561.6(TNFRSF9):c.428G>T (p.Gly143Val)	TNFRSF9 (G143V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784344	NM_001561.6(TNFRSF9):c.615C>T (p.Phe205=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2781003	NM_001561.6(TNFRSF9):c.684T>C (p.Phe228=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750572	NM_001561.6(TNFRSF9):c.555G>T (p.Pro185=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722138	NM_001561.6(TNFRSF9):c.195C>T (p.Cys65=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696748	NM_001561.6(TNFRSF9):c.209-10G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695991	NM_001561.6(TNFRSF9):c.668T>C (p.Ile223Thr)	TNFRSF9 (I223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688461	NM_001561.6(TNFRSF9):c.413+1248GTTT[7]	TNFRSF9	Microsatellite (intron variant)	not specified	GBenign
Select item 2688454	NM_001561.6(TNFRSF9):c.413+1116T>C	TNFRSF9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688421	NM_001561.6(TNFRSF9):c.680-1051A>G	TNFRSF9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688134	NM_001561.6(TNFRSF9):c.101-75A>C	TNFRSF9	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2444021	NM_001561.6(TNFRSF9):c.325G>A (p.Gly109Ser)	TNFRSF9	Single nucleotide variant (missense variant)	Immunodeficiency 109 with lymphoproliferation	GPathogenic
Select item 2425758	NC_000001.10:g.(?_7700440)_(8601397_?)dup	CAMTA1, ERRFI1 +7 more	Duplication	not provided	GUncertain significance
Select item 2417921	NM_001561.6(TNFRSF9):c.183C>T (p.Thr61=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416719	NM_001561.6(TNFRSF9):c.695T>C (p.Val232Ala)	TNFRSF9 (V232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332664	NM_001561.6(TNFRSF9):c.275T>G (p.Phe92Cys)	TNFRSF9 (F92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329754	NM_001561.6(TNFRSF9):c.632C>T (p.Ser211Phe)	TNFRSF9 (S211F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190351	NM_001561.6(TNFRSF9):c.428G>C (p.Gly143Ala)	TNFRSF9 (G143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181663	NM_001561.6(TNFRSF9):c.534G>A (p.Ala178=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170538	NM_001561.6(TNFRSF9):c.594G>A (p.Ala198=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162555	NM_001561.6(TNFRSF9):c.740A>G (p.Glu247Gly)	TNFRSF9 (E247G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2161345	NM_001561.6(TNFRSF9):c.346+4C>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2140042	NM_001561.6(TNFRSF9):c.346+5G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2127467	NM_001561.6(TNFRSF9):c.101-3T>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2101313	NM_001561.6(TNFRSF9):c.381T>C (p.Asp127=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088487	NM_001561.6(TNFRSF9):c.561C>A (p.Ile187=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042061	NM_001561.6(TNFRSF9):c.544+16C>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033256	NM_001561.6(TNFRSF9):c.302del (p.Met101fs)	TNFRSF9 (M101fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2028550	NM_001561.6(TNFRSF9):c.101-42_101-3del	TNFRSF9	Deletion (intron variant)	not provided	GUncertain significance
Select item 2025447	NM_001561.6(TNFRSF9):c.208+15A>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020530	NM_001561.6(TNFRSF9):c.163del (p.Ser55fs)	TNFRSF9 (S55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2017053	NM_001561.6(TNFRSF9):c.310C>T (p.Gln104Ter)	TNFRSF9 (Q104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2001825	NM_001561.6(TNFRSF9):c.266C>T (p.Thr89Ile)	TNFRSF9 (T89I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995731	NM_001561.6(TNFRSF9):c.347G>C (p.Gly116Ala)	TNFRSF9 (G116A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980317	NM_001561.6(TNFRSF9):c.453G>A (p.Thr151=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977938	NM_001561.6(TNFRSF9):c.454A>G (p.Lys152Glu)	TNFRSF9 (K152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975993	NM_001561.6(TNFRSF9):c.100+5G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1966638	NM_001561.6(TNFRSF9):c.521C>T (p.Pro174Leu)	TNFRSF9 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966313	NM_001561.6(TNFRSF9):c.347-18T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965700	NM_001561.6(TNFRSF9):c.197G>A (p.Arg66Lys)	TNFRSF9 (R66K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964189	NM_001561.6(TNFRSF9):c.273G>A (p.Gly91=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960236	NM_001561.6(TNFRSF9):c.78T>C (p.Asp26=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956676	NM_001561.6(TNFRSF9):c.347-13T>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955461	NM_001561.6(TNFRSF9):c.421T>C (p.Leu141=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950320	NM_001561.6(TNFRSF9):c.679+13T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933977	NM_001561.6(TNFRSF9):c.620C>T (p.Thr207Met)	TNFRSF9 (T207M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931012	NM_001561.6(TNFRSF9):c.621G>T (p.Thr207=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927501	NM_001561.6(TNFRSF9):c.489C>T (p.Ala163=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918105	NM_001561.6(TNFRSF9):c.208+10C>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916555	NM_001561.6(TNFRSF9):c.740AAG[3] (p.Glu250del)	TNFRSF9 (E250del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1914316	NM_001561.6(TNFRSF9):c.545-13C>G	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913419	NM_001561.6(TNFRSF9):c.731G>A (p.Arg244Gln)	TNFRSF9 (R244Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911816	NM_001561.6(TNFRSF9):c.450G>A (p.Gly150=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901608	NM_001561.6(TNFRSF9):c.140C>T (p.Pro47Leu)	TNFRSF9 (P47L)	Single nucleotide variant (missense variant)	TNFRSF9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1901607	NM_001561.6(TNFRSF9):c.748_749insGAG (p.Glu249_Glu250insGly)	TNFRSF9	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808723	GRCh37/hg19 1p36.23(chr1:7526232-8290521)x1	CAMTA1, ERRFI1 +5 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1673242	NM_001561.6(TNFRSF9):c.763C>T (p.Leu255=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670343	NM_001561.6(TNFRSF9):c.544+7G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654929	NM_001561.6(TNFRSF9):c.101-6_101-3del	TNFRSF9	Deletion (intron variant)	not provided	GBenign
Select item 1654523	NM_001561.6(TNFRSF9):c.680-12T>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652430	NM_001561.6(TNFRSF9):c.545-4G>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644592	NM_001561.6(TNFRSF9):c.100+19T>C	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639027	NM_001561.6(TNFRSF9):c.346+11G>A	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632203	NM_001561.6(TNFRSF9):c.63A>G (p.Thr21=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613583	NM_001561.6(TNFRSF9):c.555G>A (p.Pro185=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610364	NM_001561.6(TNFRSF9):c.680-13A>T	TNFRSF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606637	NM_001561.6(TNFRSF9):c.576T>A (p.Leu192=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591499	NM_001561.6(TNFRSF9):c.579G>A (p.Ala193=)	TNFRSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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