"Revvity Omics, Revvity"[submitter] AND "SLC37A4"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
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 663048	NM_001164277.2(SLC37A4):c.785+3A>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 188762	NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	SLC37A4 (Q248* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 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 6933	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	SLC37A4 (R28H)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IIw +3 more	GPathogenic/Likely pathogenic
Select item 459624	NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)	SLC37A4 (N27S)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
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