ClinVar for Gene (Select 51091) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317469	NM_016955.4(SEPSECS):c.265T>C (p.Tyr89His)	SEPSECS (Y174H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317468	NM_016955.4(SEPSECS):c.1151G>A (p.Arg384His)	SEPSECS (R469H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256764	NM_016955.4(SEPSECS):c.1321G>A (p.Gly441Arg)	SEPSECS (G441R +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GLikely pathogenic
Select item 3246752	NC_000004.11:g.(?_25125553)_(25128999_?)del	SEPSECS	Deletion	not provided	GPathogenic
Select item 3246750	NC_000004.11:g.(?_25146376)_(25146775_?)del	SEPSECS	Deletion	not provided	GPathogenic
Select item 3246737	NC_000004.11:g.(?_25125553)_(26492222_?)dup	ANAPC4, CCKAR +7 more	Duplication	not provided	GUncertain significance
Select item 3242529	NM_016955.4(SEPSECS):c.440G>A (p.Ser147Asn)	SEPSECS (S147N +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GLikely pathogenic
Select item 3234321	NM_016955.4(SEPSECS):c.115-508A>G	SEPSECS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3160015	NM_016955.4(SEPSECS):c.963T>G (p.Asp321Glu)	SEPSECS (D321E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160014	NM_016955.4(SEPSECS):c.50A>G (p.Tyr17Cys)	SEPSECS (Y17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160013	NM_016955.4(SEPSECS):c.337C>T (p.Leu113Phe)	SEPSECS (L198F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160012	NM_016955.4(SEPSECS):c.32G>T (p.Arg11Leu)	SEPSECS (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160011	NM_016955.4(SEPSECS):c.1344C>A (p.Asp448Glu)	SEPSECS (D448E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3038102	NM_016955.4(SEPSECS):c.*5C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	SEPSECS-related disorder	GLikely benign
Select item 3024394	NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)	SEPSECS (A165T +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 3024393	NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)	SEPSECS (M146T +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 3020532	NM_016955.4(SEPSECS):c.1026+11C>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016449	NM_016955.4(SEPSECS):c.114+13C>G	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016380	NM_016955.4(SEPSECS):c.388+11T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011040	NM_016955.4(SEPSECS):c.935-13C>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010856	NM_016955.4(SEPSECS):c.21G>A (p.Ala7=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008875	NM_016955.4(SEPSECS):c.1121-5T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008837	NM_016955.4(SEPSECS):c.114+20C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008682	NM_016955.4(SEPSECS):c.828T>C (p.Asp276=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006137	NM_016955.4(SEPSECS):c.269+12T>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005390	NM_016955.4(SEPSECS):c.547+1G>C	SEPSECS	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3005213	NM_016955.4(SEPSECS):c.114+1G>A	LOC129992330, SEPSECS	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3004656	NM_016955.4(SEPSECS):c.163_164del (p.Leu55fs)	SEPSECS (L140fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3004443	NM_016955.4(SEPSECS):c.388+12C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000655	NM_016955.4(SEPSECS):c.711A>G (p.Glu237=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998634	NM_016955.4(SEPSECS):c.42G>T (p.Ser14=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995357	NM_016955.4(SEPSECS):c.618G>A (p.Glu206=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991901	NM_016955.4(SEPSECS):c.456C>T (p.Phe152=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990810	NM_016955.4(SEPSECS):c.388+8C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990687	NM_016955.4(SEPSECS):c.627C>T (p.Val209=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986608	NM_016955.4(SEPSECS):c.36G>A (p.Leu12=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986591	NM_016955.4(SEPSECS):c.805-18A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981666	NM_016955.4(SEPSECS):c.204C>G (p.Gly68=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980304	NM_016955.4(SEPSECS):c.1120+15C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974263	NM_016955.4(SEPSECS):c.115-21_115-20del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2958573	NM_016955.4(SEPSECS):c.114+9C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957048	NM_016955.4(SEPSECS):c.1026+12C>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955600	NM_016955.4(SEPSECS):c.115-18T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955086	NM_016955.4(SEPSECS):c.388+15A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917902	NM_016955.4(SEPSECS):c.547+16T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917887	NM_016955.4(SEPSECS):c.115-13T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916477	NM_016955.4(SEPSECS):c.805-14_805-12del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2914533	NM_016955.4(SEPSECS):c.129G>A (p.Glu43=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914116	NM_016955.4(SEPSECS):c.115-14T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914085	NM_016955.4(SEPSECS):c.701+19T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912150	NM_016955.4(SEPSECS):c.935-10_935-8del	SEPSECS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2906501	NM_016955.4(SEPSECS):c.115-13T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901441	NM_016955.4(SEPSECS):c.1248C>T (p.Gly416=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894825	NM_016955.4(SEPSECS):c.115-12T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893252	NM_016955.4(SEPSECS):c.564G>A (p.Val188=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892195	NM_016955.4(SEPSECS):c.114+19C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891025	NM_016955.4(SEPSECS):c.115-17_115-16insG	SEPSECS	Insertion (intron variant)	not provided	GLikely benign
Select item 2890991	NM_016955.4(SEPSECS):c.935-12T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890531	NM_016955.4(SEPSECS):c.805-11A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878926	NM_016955.4(SEPSECS):c.1121-15T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877631	NM_016955.4(SEPSECS):c.423T>C (p.Pro141=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877202	NM_016955.4(SEPSECS):c.270-14C>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877195	NM_016955.4(SEPSECS):c.1137A>T (p.Thr379=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875257	NM_016955.4(SEPSECS):c.115-25_115-20del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2875256	NM_016955.4(SEPSECS):c.115-24_115-19del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2874120	NM_016955.4(SEPSECS):c.645T>C (p.Asp215=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873162	NM_016955.4(SEPSECS):c.1097del (p.Thr366fs)	SEPSECS (T451fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2871393	NM_016955.4(SEPSECS):c.805-15T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865398	NM_016955.4(SEPSECS):c.432T>G (p.Thr144=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864504	NM_016955.4(SEPSECS):c.270-18G>T	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860780	NM_016955.4(SEPSECS):c.389-15del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2860512	NM_016955.4(SEPSECS):c.804+18G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858955	NM_016955.4(SEPSECS):c.1400_1401del (p.Lys467fs)	SEPSECS (K467fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2857979	NM_016955.4(SEPSECS):c.985_986del (p.Leu329fs)	SEPSECS (L414fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2856300	NM_016955.4(SEPSECS):c.270-11T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855944	NM_016955.4(SEPSECS):c.633dup (p.Leu212fs)	SEPSECS (L297fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2855488	NM_016955.4(SEPSECS):c.269+10_269+12del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2850381	NM_016955.4(SEPSECS):c.249G>C (p.Leu83=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846834	NM_016955.4(SEPSECS):c.693G>A (p.Val231=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841759	NM_016955.4(SEPSECS):c.114+13C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841209	NM_016955.4(SEPSECS):c.732T>C (p.Asn244=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837731	NM_016955.4(SEPSECS):c.1027-20G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837730	NM_016955.4(SEPSECS):c.1137A>G (p.Thr379=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836906	NM_016955.4(SEPSECS):c.1026+19del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2835225	NM_016955.4(SEPSECS):c.992C>A (p.Ser331Ter)	SEPSECS (S331* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2835031	NM_016955.4(SEPSECS):c.1068A>G (p.Ser356=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831630	NM_016955.4(SEPSECS):c.33G>C (p.Arg11=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829850	NM_016955.4(SEPSECS):c.1026+17G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829139	NM_016955.4(SEPSECS):c.1121-11T>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827524	NM_016955.4(SEPSECS):c.389-9T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823635	NM_016955.4(SEPSECS):c.296del (p.Gly99fs)	SEPSECS (G184fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2822209	NM_016955.4(SEPSECS):c.1026+17G>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821412	NM_016955.4(SEPSECS):c.225G>A (p.Arg75=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818731	NM_016955.4(SEPSECS):c.1429G>T (p.Glu477Ter)	SEPSECS (E477* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2811543	NM_016955.4(SEPSECS):c.1311A>G (p.Ala437=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808363	NM_016955.4(SEPSECS):c.126A>C (p.Pro42=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806024	NM_016955.4(SEPSECS):c.615G>A (p.Val205=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800329	NM_016955.4(SEPSECS):c.1026+18del	SEPSECS	Deletion (intron variant)	not provided	GLikely benign
Select item 2798503	NM_016955.4(SEPSECS):c.1120+10T>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign

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