ClinVar for Gene (Select 7355) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 486

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063956	NM_005660.3(SLC35A2):c.426+74G>A	SLC35A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3042218	NM_005660.3(SLC35A2):c.92-233G>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-related condition	GLikely benign
Select item 3036750	NM_001282648.2(SLC35A2):c.6G>T (p.Lys2Asn)	SLC35A2 (K2N)	Single nucleotide variant (missense variant)	SLC35A2-related condition	GLikely benign
Select item 3035429	NM_005660.3(SLC35A2):c.92-290G>A	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-related condition	GLikely benign
Select item 3024426	NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)	SLC35A2 (I181V +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 3014887	NM_005660.3(SLC35A2):c.200C>T (p.Ala67Val)	SLC35A2 (A67V +3 more)	Single nucleotide variant (intron variant +1 more)	SLC35A2-congenital disorder of glycosylation	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 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 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 2921062	NM_005660.2(SLC35A2):c.-15C>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2918571	NM_005660.3(SLC35A2):c.150C>A (p.Leu50=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2918092	NM_005660.3(SLC35A2):c.191G>A (p.Arg64His)	SLC35A2 (R77H +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2915477	NM_005660.3(SLC35A2):c.231C>T (p.Leu77=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2910797	NM_005660.3(SLC35A2):c.292G>A (p.Val98Ile)	SLC35A2 (V37I +4 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GBenign
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 2908558	NM_005660.3(SLC35A2):c.275-19C>G	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2908532	NM_005660.3(SLC35A2):c.73C>A (p.Pro25Thr)	SLC35A2 (P25T)	Single nucleotide variant (missense variant +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 2903558	NM_005660.3(SLC35A2):c.426+12G>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2901830	NM_005660.3(SLC35A2):c.11_16del (p.Val4_Gly5del)	SLC35A2	Deletion (inframe_deletion +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
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 2896543	NM_005660.3(SLC35A2):c.91+15_91+16insT	SLC35A2 (P36fs)	Insertion (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2896542	NM_005660.3(SLC35A2):c.91+18A>G	SLC35A2 (S37G)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2889032	NM_005660.3(SLC35A2):c.267G>A (p.Gln89=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2887364	NM_005660.3(SLC35A2):c.484C>T (p.Arg162Cys)	SLC35A2 (R101C +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2882378	NM_005660.3(SLC35A2):c.111C>T (p.Tyr37=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2876361	NM_005660.3(SLC35A2):c.568G>A (p.Gly190Arg)	SLC35A2 (G203R +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2868598	NM_005660.3(SLC35A2):c.321G>A (p.Val107=)	SLC35A2	Single nucleotide variant (synonymous variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2866111	NM_005660.3(SLC35A2):c.92-20G>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2860622	NM_005660.3(SLC35A2):c.759T>A (p.Ala253=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2850247	NM_005660.3(SLC35A2):c.702C>T (p.Arg234=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2850025	NM_005660.3(SLC35A2):c.92-12C>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
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 2832795	NM_005660.3(SLC35A2):c.458C>T (p.Ala153Val)	SLC35A2 (A166V +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
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 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 2772188	NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)	SLC35A2 (L23fs)	Duplication (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 2771448	NM_005660.3(SLC35A2):c.718C>T (p.Leu240Phe)	SLC35A2 (L179F +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2769572	NM_005660.3(SLC35A2):c.78G>T (p.Gly26=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
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 2752870	NM_005660.3(SLC35A2):c.8C>A (p.Ala3Glu)	SLC35A2 (A3E)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2752756	NM_005660.3(SLC35A2):c.167_193del (p.Tyr56_Arg64del)	SLC35A2	Deletion (inframe_deletion +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2748963	NM_005660.3(SLC35A2):c.618C>T (p.Val206=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2741398	NM_005660.3(SLC35A2):c.179T>C (p.Leu60Ser)	SLC35A2 (L60S +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2733796	NM_005660.3(SLC35A2):c.99G>A (p.Arg33=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2724553	NM_005660.3(SLC35A2):c.427-13G>A	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
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 2705076	NM_005660.3(SLC35A2):c.21T>G (p.Gly7=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2702819	NM_005660.3(SLC35A2):c.660T>C (p.Phe220=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
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 2663400	NM_001032382.2(PQBP1):c.668A>G (p.Lys223Arg)	PQBP1, SLC35A2 (K123R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660487	NM_005660.3(SLC35A2):c.288C>T (p.His96=)	SLC35A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660486	NM_005660.3(SLC35A2):c.652G>A (p.Val218Ile)	SLC35A2 (V157I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2660484	NM_005660.3(SLC35A2):c.*32G>A	SLC35A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637970	NM_005660.3(SLC35A2):c.755G>A (p.Trp252Ter)	SLC35A2 (W191* +3 more)	Single nucleotide variant (intron variant +1 more)	SLC35A2-congenital disorder of glycosylation	Gnot provided
Select item 2631573	NM_001282648.2(SLC35A2):c.19+5G>T	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-related condition	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 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 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 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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2442756	NM_005660.3(SLC35A2):c.367A>G (p.Thr123Ala)	SLC35A2 (T123A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442711	NM_001032382.2(PQBP1):c.731C>G (p.Pro244Arg)	PQBP1, SLC35A2 (P144R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442224	NM_005660.3(SLC35A2):c.795dup (p.Gly266fs)	SLC35A2 (G205fs +3 more)	Duplication (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely pathogenic
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 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
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 2412867	NM_005660.3(SLC35A2):c.343C>T (p.Leu115Phe)	SLC35A2 (L115F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198185	NM_005660.3(SLC35A2):c.274+17G>C	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2186888	NM_005660.3(SLC35A2):c.782G>A (p.Arg261His)	SLC35A2 (R261H +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2175334	NM_005660.3(SLC35A2):c.538G>A (p.Ala180Thr)	SLC35A2 (A208T +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2162830	NM_005660.3(SLC35A2):c.30C>T (p.Thr10=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2156863	NM_005660.3(SLC35A2):c.91+9G>C	SLC35A2 (V34L)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GBenign
Select item 2149852	NM_005660.3(SLC35A2):c.91+14C>A	SLC35A2 (C35*)	Single nucleotide variant (nonsense +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign
Select item 2146232	NM_005660.3(SLC35A2):c.595C>G (p.Pro199Ala)	SLC35A2 (P199A +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2140655	NM_005660.3(SLC35A2):c.775G>A (p.Ala259Thr)	SLC35A2 (A198T +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2111582	NM_005660.3(SLC35A2):c.571G>A (p.Gly191Ser)	SLC35A2 (G204S +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2107912	NM_005660.3(SLC35A2):c.520C>T (p.Leu174Phe)	SLC35A2 (L113F +3 more)	Single nucleotide variant (missense variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2104269	NM_005660.3(SLC35A2):c.38C>T (p.Pro13Leu)	SLC35A2 (P13L)	Single nucleotide variant (intron variant +1 more)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2101747	NM_005660.3(SLC35A2):c.274+8C>T	SLC35A2	Single nucleotide variant (intron variant)	SLC35A2-congenital disorder of glycosylation	GLikely benign
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 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 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 2077486	NM_005660.3(SLC35A2):c.168C>T (p.Tyr56=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	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 2064349	NM_005660.3(SLC35A2):c.288C>G (p.His96Gln)	SLC35A2 (H35Q +4 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2062787	NM_005660.3(SLC35A2):c.645C>T (p.Phe215=)	SLC35A2	Single nucleotide variant (synonymous variant +1 more)	SLC35A2-congenital disorder of glycosylation	GLikely benign

<< First< Prev

Page of 5