"Eurofins Ntd Llc (ga)"[submitter] AND "SLC37A4"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593207	NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)	SLC37A4 (R418C +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 288044	NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)	SLC37A4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 215182	NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)	SLC37A4 (H390Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 199062	NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)	SLC37A4 (S356T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +3 more	GConflicting classifications of pathogenicity
Select item 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect +5 more	GPathogenic
Select item 593259	NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 282064	NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)	SLC37A4 (L293P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288246	NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)	SLC37A4 (A280V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286078	NM_001164277.2(SLC37A4):c.786-7A>G	SLC37A4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 139190	NM_001164277.2(SLC37A4):c.626+19C>T	SLC37A4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 139189	NM_001164277.2(SLC37A4):c.626+14C>T	SLC37A4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 139188	NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)	SLC37A4 (N198I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 595016	NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)	SLC37A4 (L186F +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GUncertain significance
Select item 215178	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	SLC37A4 (R166H +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 496949	NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)	SLC37A4 (S164R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 68272	NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)	SLC37A4 (G50E)	Single nucleotide variant (missense variant +1 more)	Phosphate transport defect +3 more	GUncertain significance