SLC35A2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660484	NM_005660.3(SLC35A2):c.*32G>A	SLC35A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1245601	NM_005660.3(SLC35A2):c.1164-51G>A	SLC35A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1310071	NM_005660.3(SLC35A2):c.1096_1163+217delinsCGGGAGG	SLC35A2 (G305fs +5 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2582197	NM_005660.3(SLC35A2):c.1163+142C>A	SLC35A2 (L215I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2660485	NM_005660.3(SLC35A2):c.1163+105G>A	SLC35A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1690914	NM_005660.3(SLC35A2):c.1163+70G>A	SLC35A2 (V191I +1 more)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 2429213	NM_005660.3(SLC35A2):c.1163+54del	SLC35A2 (T186fs +1 more)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 420723	NM_005660.3(SLC35A2):c.1163+44_1163+47del	SLC35A2 (Q206fs +1 more)	Deletion (frameshift variant +2 more)	not specified	GLikely benign
Select item 2909028	NM_005660.3(SLC35A2):c.1163+16G>T	SLC35A2 (K406N +5 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 1622521	NM_005660.3(SLC35A2):c.1156C>T (p.Leu386=)	SLC35A2 (S165F +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2573787	NM_005660.3(SLC35A2):c.1147G>A (p.Glu383Lys)	SLC35A2 (E322K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697799	NM_005660.3(SLC35A2):c.1146G>A (p.Thr382=)	SLC35A2 (G186R +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 1169581	NM_005660.3(SLC35A2):c.1145C>T (p.Thr382Met)	SLC35A2 (T321M +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1167243	NM_005660.3(SLC35A2):c.1130G>C (p.Arg377Pro)	SLC35A2 (R316P +3 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 701360	NM_005660.3(SLC35A2):c.1130G>A (p.Arg377His)	SLC35A2 (R390H +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1050652	NM_005660.3(SLC35A2):c.1129C>T (p.Arg377Cys)	SLC35A2 (P156L +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 2418291	NM_005660.3(SLC35A2):c.1128C>T (p.His376=)	SLC35A2 (P156S +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2094736	NM_005660.3(SLC35A2):c.1118T>C (p.Leu373Pro)	SLC35A2 (L312P +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1124514	NM_005660.3(SLC35A2):c.1113G>A (p.Pro371=)	SLC35A2 (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2574543	NM_005660.3(SLC35A2):c.1112C>A (p.Pro371Gln)	SLC35A2 (P310Q +3 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 936005	NM_005660.3(SLC35A2):c.1112C>T (p.Pro371Leu)	SLC35A2 (P371L +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 2836762	NM_005660.3(SLC35A2):c.1110A>T (p.Pro370=)	SLC35A2 (T174S +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 1169774	NM_005660.3(SLC35A2):c.1110A>G (p.Pro370=)	SLC35A2 (T150A +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 1417678	NM_005660.3(SLC35A2):c.1105C>T (p.Pro369Ser)	SLC35A2 (P369S +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1449924	NM_005660.3(SLC35A2):c.1100A>G (p.Gln367Arg)	SLC35A2 (Q367R +3 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1194058	NM_005660.3(SLC35A2):c.1099C>A (p.Gln367Lys)	SLC35A2 (A146E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2998836	NM_005660.3(SLC35A2):c.1097G>A (p.Gly366Glu)	SLC35A2 (G305E +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 864444	NM_005660.3(SLC35A2):c.1096G>T (p.Gly366Trp)	SLC35A2 (G305W +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 640020	NM_005660.3(SLC35A2):c.1096G>A (p.Gly366Arg)	SLC35A2 (G379R +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2783570	NM_005660.3(SLC35A2):c.1090C>T (p.Pro364Ser)	SLC35A2 (P303S +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2695178	NM_005660.3(SLC35A2):c.1078G>C (p.Val360Leu)	SLC35A2 (R163P +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 509462	NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile)	SLC35A2 (V360I +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1092796	NM_005660.3(SLC35A2):c.1077C>T (p.Cys359=)	SLC35A2 (R139C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1426367	NM_005660.3(SLC35A2):c.1073C>T (p.Pro358Leu)	SLC35A2 (P297L +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2959669	NM_005660.3(SLC35A2):c.1070G>C (p.Gly357Ala)	SLC35A2 (G357A +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1096843	NM_005660.3(SLC35A2):c.1058CCTCCG[3] (p.349AS[5])	SLC35A2	Microsatellite (inframe_insertion)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2579713	NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)	SLC35A2 (G296R +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1167722	NM_005660.3(SLC35A2):c.1069G>A (p.Gly357Arg)	SLC35A2 (G296R +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 412236	NM_005660.3(SLC35A2):c.1058CCTCCG[1] (p.349AS[3])	SLC35A2	Microsatellite (inframe_deletion)	SLC35A2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 2038309	NM_005660.3(SLC35A2):c.1068C>T (p.Ser356=)	SLC35A2 (R160W +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 522962	NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu)	SLC35A2	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 754204	NM_005660.3(SLC35A2):c.1063G>A (p.Ala355Thr)	SLC35A2 (A368T +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 1009247	NM_005660.3(SLC35A2):c.1050TGCCTC[3] (p.349AS[5])	SLC35A2	Microsatellite (inframe_insertion)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 507814	NM_005660.3(SLC35A2):c.1062C>T (p.Ser354=)	SLC35A2 (R158C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 859585	NM_005660.3(SLC35A2):c.1050TGCCTC[1] (p.349AS[3])	SLC35A2	Microsatellite (inframe_deletion)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 589375	NM_005660.3(SLC35A2):c.1056T>C (p.Ser352=)	SLC35A2 (C156R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1148163	NM_005660.3(SLC35A2):c.1050T>C (p.Ser350=)	SLC35A2 (C130R +1 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 1912046	NM_005660.3(SLC35A2):c.1042A>G (p.Ile348Val)	SLC35A2 (H127R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 444804	NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)	SLC35A2 (A347T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3319551	NM_005660.3(SLC35A2):c.1032A>G (p.Ala344=)	SLC35A2 (S124G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2074716	NM_005660.3(SLC35A2):c.1030G>T (p.Ala344Ser)	SLC35A2 (A283S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504239	NM_005660.3(SLC35A2):c.1030G>A (p.Ala344Thr)	SLC35A2 (A357T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035853	NM_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln)	SLC35A2 (R355Q +3 more)	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 2098625	NM_005660.3(SLC35A2):c.1021C>T (p.Pro341Ser)	SLC35A2 (P341S +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1170877	NM_005660.3(SLC35A2):c.1015A>G (p.Ser339Gly)	SLC35A2 (S278G +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1621982	NM_005660.3(SLC35A2):c.1014C>T (p.Tyr338=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 3064116	NM_005660.3(SLC35A2):c.998G>A (p.Gly333Asp)	SLC35A2 (G272D +3 more)	Single nucleotide variant (intron variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1042432	NM_005660.3(SLC35A2):c.991_993del (p.Val331del)	SLC35A2 (V359del +3 more)	Deletion (inframe_deletion +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 50364	NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)	SLC35A2 (V331I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 383041	NM_005660.3(SLC35A2):c.990C>T (p.Leu330=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 995419	NM_005660.3(SLC35A2):c.989T>C (p.Leu330Pro)	SLC35A2 (L269P +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely pathogenic
Select item 932491	NM_005660.3(SLC35A2):c.982G>A (p.Ala328Thr)	SLC35A2 (A356T +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 541108	NM_005660.3(SLC35A2):c.981C>T (p.Gly327=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 135675	NM_005660.3(SLC35A2):c.972del (p.Phe324fs)	SLC35A2 (F337fs +3 more)	Deletion (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 810586	NM_005660.3(SLC35A2):c.966A>G (p.Pro322=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 749593	NM_005660.3(SLC35A2):c.963C>T (p.Asp321=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919471	NM_005660.3(SLC35A2):c.962A>G (p.Asp321Gly)	SLC35A2 (D321G +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1578345	NM_005660.3(SLC35A2):c.958G>A (p.Val320Met)	SLC35A2 (V259M +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 474049	NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)	SLC35A2 (V320L +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1607898	NM_005660.3(SLC35A2):c.957C>T (p.His319=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 1361100	NM_005660.3(SLC35A2):c.955C>T (p.His319Tyr)	SLC35A2 (H332Y +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 857712	NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)	SLC35A2 (F344fs +3 more)	Deletion (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 2898079	NM_005660.3(SLC35A2):c.945C>T (p.Leu315=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 430450	NM_005660.3(SLC35A2):c.944T>C (p.Leu315Pro)	SLC35A2 (L315P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 474048	NM_005660.3(SLC35A2):c.942C>T (p.Arg314=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 956333	NM_005660.3(SLC35A2):c.941G>A (p.Arg314His)	SLC35A2 (R327H +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 1951228	NM_005660.3(SLC35A2):c.940C>T (p.Arg314Cys)	SLC35A2 (R314C +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2093049	NM_005660.3(SLC35A2):c.938T>C (p.Ile313Thr)	SLC35A2 (I252T +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2663778	NM_005660.3(SLC35A2):c.918_929dup (p.Val310_Ala311insLeuSerThrVal)	SLC35A2	Duplication (inframe_insertion +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2907575	NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)	SLC35A2 (S336F +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 1344884	NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro)	SLC35A2 (S243P +3 more)	Single nucleotide variant (missense variant +1 more)	non-lesional focal epilepsy	GLikely pathogenic
Select item 2809048	NM_005660.3(SLC35A2):c.905C>T (p.Ser302Phe)	SLC35A2 (S241F +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 646442	NM_005660.3(SLC35A2):c.881A>G (p.Asn294Ser)	SLC35A2 (N294S +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1149081	NM_005660.3(SLC35A2):c.873C>T (p.Tyr291=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 541106	NM_005660.3(SLC35A2):c.852G>T (p.Leu284=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 871205	NM_005660.3(SLC35A2):c.844G>A (p.Gly282Arg)	SLC35A2 (G282R +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 2987249	NM_005660.3(SLC35A2):c.843C>T (p.Gly281=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 847377	NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)	SLC35A2 (F280fs +3 more)	Deletion (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 2048658	NM_005660.3(SLC35A2):c.842G>T (p.Gly281Val)	SLC35A2 (G220V +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 948559	NM_005660.3(SLC35A2):c.841G>A (p.Gly281Ser)	SLC35A2 (G294S +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 1672116	NM_005660.3(SLC35A2):c.840C>T (p.Phe280=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2575887	NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)	SLC35A2 (Q217* +3 more)	Single nucleotide variant (nonsense +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 756845	NM_005660.3(SLC35A2):c.831C>T (p.Asn277=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 695729	NM_005660.3(SLC35A2):c.828C>T (p.Leu276=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 282611	NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe)	SLC35A2 (L276F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2716693	NM_005660.3(SLC35A2):c.825G>C (p.Val275=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 1400914	NM_005660.3(SLC35A2):c.820G>A (p.Val274Met)	SLC35A2 (V213M +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2753587	NM_005660.3(SLC35A2):c.819C>G (p.Gly273=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 937317	NM_005660.3(SLC35A2):c.819C>T (p.Gly273=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 810587	NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)	SLC35A2 (G301A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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