ClinVar for Gene (Select 9652) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162656	NM_014639.4(SKIC3):c.983C>T (p.Ser328Leu)	SKIC3 (S328L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162655	NM_014639.4(SKIC3):c.920G>T (p.Ser307Ile)	SKIC3 (S307I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162654	NM_014639.4(SKIC3):c.4568G>A (p.Arg1523His)	SKIC3 (R1523H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162653	NM_014639.4(SKIC3):c.3820G>A (p.Ala1274Thr)	SKIC3 (A1274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162652	NM_014639.4(SKIC3):c.3311C>T (p.Thr1104Met)	SKIC3 (T1104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3162651	NM_014639.4(SKIC3):c.3273G>C (p.Leu1091Phe)	SKIC3 (L1091F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162650	NM_014639.4(SKIC3):c.3266A>C (p.His1089Pro)	SKIC3 (H1089P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162649	NM_014639.4(SKIC3):c.3262G>T (p.Ala1088Ser)	SKIC3 (A1088S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162648	NM_014639.4(SKIC3):c.3193G>T (p.Gly1065Trp)	SKIC3 (G1065W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162646	NM_014639.4(SKIC3):c.313G>C (p.Asp105His)	SKIC3 (D105H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162645	NM_014639.4(SKIC3):c.2798A>G (p.Tyr933Cys)	SKIC3 (Y933C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162644	NM_014639.4(SKIC3):c.2777A>G (p.His926Arg)	SKIC3 (H926R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162643	NM_014639.4(SKIC3):c.2711T>C (p.Ile904Thr)	SKIC3 (I904T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162642	NM_014639.4(SKIC3):c.254A>G (p.Glu85Gly)	SKIC3 (E85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162641	NM_014639.4(SKIC3):c.2339G>A (p.Cys780Tyr)	SKIC3 (C780Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162640	NM_014639.4(SKIC3):c.2318T>C (p.Met773Thr)	SKIC3 (M773T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162639	NM_014639.4(SKIC3):c.2254G>A (p.Val752Ile)	SKIC3 (V752I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162638	NM_014639.4(SKIC3):c.2225T>C (p.Val742Ala)	SKIC3 (V742A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162637	NM_014639.4(SKIC3):c.1896A>G (p.Ile632Met)	SKIC3 (I632M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162636	NM_014639.4(SKIC3):c.1766C>A (p.Ala589Glu)	SKIC3 (A589E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162635	NM_014639.4(SKIC3):c.1702C>G (p.Leu568Val)	SKIC3 (L568V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162634	NM_014639.4(SKIC3):c.1592G>A (p.Gly531Glu)	SKIC3 (G531E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162633	NM_014639.4(SKIC3):c.1555A>G (p.Lys519Glu)	SKIC3 (K519E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162632	NM_014639.4(SKIC3):c.1515C>G (p.Asp505Glu)	SKIC3 (D505E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162631	NM_014639.4(SKIC3):c.1477G>A (p.Gly493Ser)	SKIC3 (G493S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162630	NM_014639.4(SKIC3):c.142G>A (p.Val48Ile)	SKIC3 (V48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162628	NM_014639.4(SKIC3):c.136A>G (p.Ile46Val)	SKIC3 (I46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162627	NM_014639.4(SKIC3):c.1027G>T (p.Gly343Cys)	SKIC3 (G343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3065551	NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)	SKIC3 (Y728fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 3065460	NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)	SKIC3 (R349G)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3030514	NM_014639.4(SKIC3):c.2460C>T (p.Leu820=)	SKIC3	Single nucleotide variant (synonymous variant)	SKIC3-related disorder	GLikely benign
Select item 3023822	NM_014639.4(SKIC3):c.3092+20A>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022362	NM_014639.4(SKIC3):c.2634+16G>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019655	NM_014639.4(SKIC3):c.4119A>G (p.Pro1373=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019015	NM_014639.4(SKIC3):c.2772T>C (p.Asn924=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016775	NM_014639.4(SKIC3):c.664T>C (p.Leu222=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015911	NM_014639.4(SKIC3):c.2544C>T (p.His848=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015424	NM_014639.4(SKIC3):c.1233C>T (p.Asp411=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012849	NM_014639.4(SKIC3):c.3057C>T (p.Tyr1019=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010976	NM_014639.4(SKIC3):c.705T>C (p.Thr235=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010967	NM_014639.4(SKIC3):c.3870C>T (p.Asn1290=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010932	NM_014639.4(SKIC3):c.1170T>C (p.Val390=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010798	NM_014639.4(SKIC3):c.994+17T>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009830	NM_014639.4(SKIC3):c.4165C>T (p.Leu1389=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009488	NM_014639.4(SKIC3):c.2703+11T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009162	NM_014639.4(SKIC3):c.3341+11T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007372	NM_014639.4(SKIC3):c.3563+16G>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006504	NM_014639.4(SKIC3):c.3666T>C (p.His1222=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006444	NM_014639.4(SKIC3):c.4268dup (p.Tyr1423Ter)	SKIC3 (Y1423*)	Duplication (nonsense)	not provided	GPathogenic
Select item 3005925	NM_014639.4(SKIC3):c.3479A>G (p.Gln1160Arg)	SKIC3 (Q1160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005696	NM_014639.4(SKIC3):c.2779-12G>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005617	NM_014639.4(SKIC3):c.479G>A (p.Trp160Ter)	SKIC3 (W160*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3005533	NM_014639.4(SKIC3):c.235-1G>A	SKIC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3005104	NM_014639.4(SKIC3):c.873T>C (p.Ala291=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004673	NM_014639.4(SKIC3):c.926G>C (p.Trp309Ser)	SKIC3 (W309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004200	NM_014639.4(SKIC3):c.2307A>G (p.Ala769=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3004137	NM_014639.4(SKIC3):c.3931+17A>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003750	NM_014639.4(SKIC3):c.1325+18G>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003546	NM_014639.4(SKIC3):c.234+19T>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003007	NM_014639.4(SKIC3):c.306G>A (p.Lys102=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002899	NM_014639.4(SKIC3):c.2961T>A (p.Gly987=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002898	NM_014639.4(SKIC3):c.3093-20A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002692	NM_014639.4(SKIC3):c.1452+18A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002691	NM_014639.4(SKIC3):c.2946T>G (p.Ala982=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001972	NM_014639.4(SKIC3):c.3622C>T (p.Gln1208Ter)	SKIC3 (Q1208*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3001661	NM_014639.4(SKIC3):c.3564-5T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001610	NM_014639.4(SKIC3):c.831del (p.Gly277_Leu278insTer)	SKIC3	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3001265	NM_014639.4(SKIC3):c.4575_4580del (p.Tyr1525_Leu1527delinsTer)	SKIC3	Deletion (nonsense)	not provided	GPathogenic
Select item 3001194	NM_014639.4(SKIC3):c.752-9T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001154	NM_014639.4(SKIC3):c.1665T>A (p.Thr555=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997792	NM_014639.4(SKIC3):c.994+9G>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997316	NM_014639.4(SKIC3):c.893-3del	SKIC3	Deletion (intron variant)	not provided	GBenign
Select item 2996706	NM_014639.4(SKIC3):c.96G>A (p.Val32=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996196	NM_014639.4(SKIC3):c.3390T>C (p.Ala1130=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996034	NM_014639.4(SKIC3):c.4497-5T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995954	NM_014639.4(SKIC3):c.2703+18_2703+19del	SKIC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2995072	NM_014639.4(SKIC3):c.1326-14C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994714	NM_014639.4(SKIC3):c.752-14C>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993929	NM_014639.4(SKIC3):c.4090T>C (p.Leu1364=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993248	NM_014639.4(SKIC3):c.3702G>A (p.Leu1234=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993163	NM_014639.4(SKIC3):c.3218-16C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993072	NM_014639.4(SKIC3):c.544-4T>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991142	NM_014639.4(SKIC3):c.3691-9C>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990599	NM_014639.4(SKIC3):c.2515+18C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989414	NM_014639.4(SKIC3):c.4620+18T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989211	NM_014639.4(SKIC3):c.327-18G>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988535	NM_014639.4(SKIC3):c.885A>G (p.Leu295=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987695	NM_014639.4(SKIC3):c.1239C>T (p.Leu413=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987304	NM_014639.4(SKIC3):c.2578-16del	SKIC3	Deletion (intron variant)	not provided	GBenign
Select item 2986795	NM_014639.4(SKIC3):c.3840T>C (p.Cys1280=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986203	NM_014639.4(SKIC3):c.3931+17A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986003	NM_014639.4(SKIC3):c.276T>C (p.Ala92=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985578	NM_014639.4(SKIC3):c.1632+17C>A	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984862	NM_014639.4(SKIC3):c.1026T>G (p.Ser342=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983658	NM_014639.4(SKIC3):c.1554G>A (p.Arg518=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983087	NM_014639.4(SKIC3):c.3932-13T>C	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982942	NM_014639.4(SKIC3):c.2778+18C>T	SKIC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982710	NM_014639.4(SKIC3):c.403-8_403-5dup	SKIC3	Duplication (intron variant)	not provided	GLikely benign

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