C0268146[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139193	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +3 more	GBenign/Likely benign
Select item 139192	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +3 more	GBenign
Select item 139191	NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +3 more	GBenign
Select item 663384	NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)	SLC37A4 (G357E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 215180	NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)	SLC37A4 (T323I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1038940	NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)	SLC37A4 (M242V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 1209841	NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)	SLC37A4 (F164L +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 139190	NM_001164277.2(SLC37A4):c.626+19C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect +3 more	GBenign
Select item 139189	NM_001164277.2(SLC37A4):c.626+14C>T	SLC37A4	Single nucleotide variant (intron variant)	Phosphate transport defect +3 more	GBenign
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 139186	NM_001164277.2(SLC37A4):c.149-14A>G	SLC37A4	Single nucleotide variant (intron variant)	Phosphate transport defect +5 more	GBenign/Likely benign