"Baylor Genetics"[submitter] AND "SLC37A4"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6934	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	SLC37A4 (R415* +2 more)	Single nucleotide variant (nonsense)	Phosphate transport defect +2 more	GPathogenic/Likely 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 928687	NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)	SLC37A4 (W320* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2678963	NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)	SLC37A4 (F311fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 552957	NM_001164277.2(SLC37A4):c.1125-1G>A	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 1301338	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	SLC37A4	Deletion (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 2678960	NM_001164277.2(SLC37A4):c.1124+1G>A	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 1514493	NM_001164277.2(SLC37A4):c.1124+1G>T	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2678952	NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)	SLC37A4 (A300fs +2 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 21298	NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	SLC37A4 (A367T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2678968	NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)	SLC37A4 (L288fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678965	NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)	SLC37A4 (S283fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 2678948	NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)	SLC37A4 (E282fs +2 more)	Insertion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 6922	NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)	SLC37A4 (E355* +2 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic
Select item 6935	NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	SLC37A4 (G339D +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +3 more	GPathogenic/Likely pathogenic
Select item 6921	NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)	SLC37A4 (G339C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2678949	NM_001164277.2(SLC37A4):c.986-1G>C	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 1444451	NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)	SLC37A4 (K255fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 1451212	NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)	SLC37A4 (S253fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 2678956	NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)	SLC37A4 (S251fs +1 more)	Microsatellite (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2125836	NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)	SLC37A4 (T239fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 188799	NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	SLC37A4	Duplication (inframe_insertion)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 1076502	NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)	SLC37A4 (A236fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 68295	NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)	SLC37A4 (H301P +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 68294	NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	SLC37A4 (R300H +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GPathogenic/Likely pathogenic
Select item 68293	NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	SLC37A4 (R300C +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 2678962	NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)	SLC37A4 (N222fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678958	NM_001164277.2(SLC37A4):c.872-7_873dup	SLC37A4	Duplication (splice acceptor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2017762	NM_001164277.2(SLC37A4):c.871+1G>A	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 558317	NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)	SLC37A4 (Y209fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678959	NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)	SLC37A4 (Y192* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 188762	NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	SLC37A4 (Q248* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 68289	NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)	SLC37A4 (W246R +1 more)	Single nucleotide variant (missense 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 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 6930	NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	SLC37A4 (V236del +1 more)	Microsatellite (inframe_deletion)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678964	NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)	SLC37A4 (Y152fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 189147	NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)	SLC37A4 (Q218* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 2678967	NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)	SLC37A4 (L144fs +1 more)	Indel (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678947	NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)	SLC37A4 (E140fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678955	NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)	SLC37A4 (D120* +1 more)	Duplication (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 68285	NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)	SLC37A4 (P191L +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
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 2678945	NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)	SLC37A4 (S162fs +1 more)	Microsatellite (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 662747	NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)	SLC37A4 (I81fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 68282	NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)	SLC37A4 (P153L +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 68281	NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	SLC37A4 (G150R +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 68280	NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)	SLC37A4 (G149E +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 1453193	NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)	SLC37A4 (F61fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 2678961	NM_001164277.2(SLC37A4):c.382-1G>T	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 633418	NM_001164277.2(SLC37A4):c.381+2T>G	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 656028	NM_001164277.2(SLC37A4):c.381+1G>T	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2678950	NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)	SLC37A4 (G122E +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 2678966	NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)	SLC37A4 (C121fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 633417	NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	SLC37A4 (C48fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect +2 more	GPathogenic
Select item 6923	NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)	SLC37A4 (W118R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 550962	NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)	SLC37A4 (L43fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 529223	NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)	SLC37A4 (L43fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic
Select item 2503964	NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)	SLC37A4 (G115R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 2678951	NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)	SLC37A4 (W107* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect	GPathogenic
Select item 6928	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	SLC37A4 (W96* +1 more)	Single nucleotide variant (nonsense)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 529222	NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)	SLC37A4 (V69L)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IIw +4 more	GUncertain significance
Select item 2678953	NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)	SLC37A4 (V66fs)	Duplication (frameshift variant +1 more)	Glucose-6-phosphate transport defect	GPathogenic/Likely 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 651195	NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)	SLC37A4 (S57fs)	Deletion (frameshift variant +1 more)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 654273	NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)	SLC37A4 (S57*)	Single nucleotide variant (nonsense +1 more)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 549913	NM_001164277.2(SLC37A4):c.148+2T>C	SLC37A4	Single nucleotide variant (intron variant +1 more)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 6932	NM_001164277.2(SLC37A4):c.148+1G>A	SLC37A4	Single nucleotide variant (intron variant +1 more)	Glucose-6-phosphate transport defect +2 more	GPathogenic/Likely pathogenic
Select item 2678969	NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)	SLC37A4 (G50R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 965218	NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)	SLC37A4 (V34I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 6933	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	SLC37A4 (R28H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 68291	NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	SLC37A4 (R28C)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +2 more	GPathogenic
Select item 68290	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	SLC37A4 (N27K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 557015	NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	SLC37A4 (Y25fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 835295	NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)	SLC37A4 (Y21fs)	Duplication (frameshift variant +1 more)	Glucose-6-phosphate transport defect +1 more	GPathogenic/Likely pathogenic
Select item 68286	NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	SLC37A4 (G20D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 953966	NM_001164277.1(SLC37A4):c.529_533del	SLC37A4 (V104fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 2678954	NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)	SLC37A4 (V105fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect	GLikely pathogenic

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Items: 82