Related gene-specific medical variations for Gene (Select 2542) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2690011	NM_001164277.2(SLC37A4):c.425C>T (p.Ser142Leu)	SLC37A4 (S142L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690010	NM_001164277.2(SLC37A4):c.43T>C (p.Ser15Pro)	SLC37A4 (S15P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 2678960	NM_001164277.2(SLC37A4):c.1124+1G>A	SLC37A4	Single nucleotide variant (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic
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 2678958	NM_001164277.2(SLC37A4):c.872-7_873dup	SLC37A4	Duplication (splice acceptor variant)	Glucose-6-phosphate transport defect	GPathogenic
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 2678955	NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)	SLC37A4 (D120* +1 more)	Duplication (nonsense)	Glucose-6-phosphate transport defect	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
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 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 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 2678949	NM_001164277.2(SLC37A4):c.986-1G>C	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GPathogenic
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 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 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 2436024	NM_001164277.2(SLC37A4):c.311C>T (p.Ala104Val)	SLC37A4 (A104V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991009	NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)	SLC37A4 (S24R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 879970	NM_001164277.2(SLC37A4):c.-439T>C	LOC130006883, SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I	GUncertain significance
Select item 302718	NM_001164277.2(SLC37A4):c.-420G>C	LOC130006883, SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302717	NM_001164277.2(SLC37A4):c.-384G>A	LOC130006883, SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I	GUncertain significance
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 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 68287	NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)	SLC37A4 (L229P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68283	NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg)	SLC37A4 (C176R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68278	NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro)	SLC37A4 (Q133P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68277	NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp)	SLC37A4 (G88D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68276	NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro)	SLC37A4 (L85P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68273	NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg)	SLC37A4 (S54R)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68271	NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg)	SLC37A4 (G50R)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 68270	NM_001164277.2(SLC37A4):c.1126G>A (p.Gly376Ser)	SLC37A4 (G376S +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68269	NM_001164277.2(SLC37A4):c.1118C>A (p.Ala373Asp)	SLC37A4 (A373D +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 45