ClinVar for Gene (Select 2542) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382467	NM_001164277.2(SLC37A4):c.55G>C (p.Gly19Arg)	SLC37A4 (G19R)	Single nucleotide variant (missense variant +1 more)	Phosphate transport defect +1 more	GUncertain significance
Select item 3362565	NM_001164277.2(SLC37A4):c.744_745del (p.Gln248fs)	SLC37A4 (Q175fs +1 more)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IIw	GLikely pathogenic
Select item 3345342	NM_001164277.2(SLC37A4):c.964G>A (p.Val322Met)	SLC37A4 (V249M +1 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 3319695	NM_001164277.2(SLC37A4):c.858G>A (p.Arg286=)	SLC37A4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3256584	NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)	SLC37A4 (S32del)	Deletion (inframe_deletion +1 more)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3244580	NC_000011.9:g.(?_118897293)_(118897825_?)del	SLC37A4	Deletion	Glucose-6-phosphate transport defect	GPathogenic
Select item 3240515	NM_001164277.2(SLC37A4):c.529del (p.Val177fs)	SLC37A4 (V104fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3240514	NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)	SLC37A4 (W165fs +1 more)	Indel (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3240513	NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)	SLC37A4 (T168fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3240512	NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)	SLC37A4 (C169* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3240511	NM_001164277.2(SLC37A4):c.188_189delinsT (p.Ser63fs)	SLC37A4 (S63fs)	Indel (frameshift variant +1 more)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3240510	NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)	SLC37A4 (E328fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 3234897	NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)	SLC37A4 (G277V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3032086	NM_001164277.2(SLC37A4):c.875G>C (p.Gly292Ala)	SLC37A4 (G219A +1 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 3023113	NM_001164277.2(SLC37A4):c.382-20T>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3021350	NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)	SLC37A4 (M242R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 3020534	NM_001164277.2(SLC37A4):c.1124+12C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3018329	NM_001164277.2(SLC37A4):c.1125-11C>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3015279	NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3008546	NM_001164277.2(SLC37A4):c.871+17G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 3007184	NM_001164277.2(SLC37A4):c.627-11C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2995992	NM_001164277.2(SLC37A4):c.149-18G>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2992839	NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2989042	NM_001164277.2(SLC37A4):c.1124+20G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2987892	NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2985188	NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2979970	NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)	SLC37A4 (D127Y +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2978773	NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2975986	NM_001164277.2(SLC37A4):c.148+20G>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2973141	NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2919430	NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)	SLC37A4 (L317V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2915694	NM_001164277.2(SLC37A4):c.627-16C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2912094	NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2910297	NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)	SLC37A4 (W138R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2910037	NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)	SLC37A4 (V375A +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2905563	NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)	SLC37A4 (T248S +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2904256	NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)	SLC37A4 (I344V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2902343	NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2901305	NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2897970	NM_001164277.2(SLC37A4):c.381+18G>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2897501	NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)	SLC37A4 (E132K +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2897500	NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2894393	NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)	SLC37A4 (F94fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2883697	NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)	SLC37A4 (L44S)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2882219	NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)	SLC37A4 (L43P +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2882148	NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)	SLC37A4 (I346V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2879642	NM_001164277.2(SLC37A4):c.786-22_786-13del	SLC37A4	Deletion (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2876964	NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2876423	NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2873785	NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)	SLC37A4 (K64R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2873251	NM_001164277.2(SLC37A4):c.985+18G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2871815	NM_001164277.2(SLC37A4):c.149-17T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2867599	NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2851677	NM_001164277.2(SLC37A4):c.382-2A>G	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2851502	NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)	SLC37A4 (Y60*)	Single nucleotide variant (nonsense +1 more)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2850228	NM_001164277.2(SLC37A4):c.148+7_148+8del	SLC37A4	Deletion (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2842998	NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2837576	NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)	SLC37A4 (N360fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2836436	NM_001164277.2(SLC37A4):c.626+10C>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2835646	NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2835586	NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)	SLC37A4 (V121A +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2835376	NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)	SLC37A4 (C404* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2835025	NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)	SLC37A4 (G310S +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2830361	NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)	SLC37A4 (F397fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2828685	NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2828544	NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)	SLC37A4 (K208R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2824569	NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2822945	NM_001164277.2(SLC37A4):c.149-8C>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2822719	NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)	SLC37A4 (I273L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2820720	NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)	SLC37A4 (S22R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2818473	NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)	SLC37A4 (L141fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2816557	NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2816215	NM_001164277.2(SLC37A4):c.1124+4A>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2816122	NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)	SLC37A4 (W65* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2809480	NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2807045	NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2803954	NM_001164277.2(SLC37A4):c.627-7C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2803174	NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)	SLC37A4 (R28L)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2801485	NM_001164277.2(SLC37A4):c.149-2A>G	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2801295	NM_001164277.2(SLC37A4):c.785+15G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2798403	NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2794455	NM_001164277.2(SLC37A4):c.627-8A>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2792963	NM_001164277.2(SLC37A4):c.986-1G>A	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2792071	NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2791231	NM_001164277.2(SLC37A4):c.1125-4A>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2791127	NM_001164277.2(SLC37A4):c.1125-10C>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2787898	NM_001164277.2(SLC37A4):c.872-4A>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2787079	NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)	SLC37A4 (W5* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2785478	NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2780238	NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)	SLC37A4 (S392fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 2772843	NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)	SLC37A4 (S319fs +2 more)	Insertion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2770060	NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)	SLC37A4 (T26fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2769665	NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)	SLC37A4 (R4G +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 2768890	NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)	SLC37A4 (R93fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2767792	NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 2766427	NM_001164277.2(SLC37A4):c.626+10del	SLC37A4	Deletion (intron variant)	Glucose-6-phosphate transport defect	GBenign
Select item 2766063	NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign

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