"SLC37A4-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302703	NM_001164277.2(SLC37A4):c.*5A>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	SLC37A4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2634960	NM_001164277.2(SLC37A4):c.1237C>T (p.Leu413Phe)	SLC37A4 (L340F +2 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 2635013	NM_001164277.2(SLC37A4):c.1235T>C (p.Phe412Ser)	SLC37A4 (F339S +2 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
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 199062	NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)	SLC37A4 (S356T +2 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2633101	NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)	SLC37A4 (I273fs +2 more)	Duplication (frameshift variant)	SLC37A4-related disorder	GPathogenic
Select item 215175	NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)	SLC37A4 (F338L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 215181	NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)	SLC37A4 (I331V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 550159	NM_001164277.2(SLC37A4):c.985+228C>G	SLC37A4 (L335V)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +1 more	GLikely benign
Select item 709506	NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)	SLC37A4	Single nucleotide variant (synonymous variant)	SLC37A4-related disorder +4 more	GLikely benign
Select item 215180	NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)	SLC37A4 (T323I +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GConflicting classifications of pathogenicity
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 3032086	NM_001164277.2(SLC37A4):c.875G>C (p.Gly292Ala)	SLC37A4 (G219A +1 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder	GUncertain significance
Select item 751545	NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +1 more	GLikely benign
Select item 459625	NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)	SLC37A4 (A291V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +3 more	GConflicting classifications of pathogenicity
Select item 784599	NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)	SLC37A4 (V188I +1 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 712904	NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)	SLC37A4	Single nucleotide variant (synonymous variant)	SLC37A4-related disorder +4 more	GLikely benign
Select item 726795	NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)	SLC37A4 (S137P +1 more)	Single nucleotide variant (missense variant)	SLC37A4-related disorder +1 more	GLikely benign
Select item 751412	NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)	SLC37A4 (S131F +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GLikely benign
Select item 215178	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	SLC37A4 (R166H +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 552364	NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +1 more	GLikely benign
Select item 965824	NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)	SLC37A4 (P43S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IIw +4 more	GUncertain significance
Select item 2694523	NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)	SLC37A4 (I13N)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 968959	NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)	SLC37A4 (Y8C)	Single nucleotide variant (missense variant +1 more)	SLC37A4-related disorder +1 more	GUncertain significance
Select item 1044548	NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)	SLC37A4 (G5R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +3 more	GUncertain significance
Select item 302721	NM_001164277.2(SLC37A4):c.-700+9C>T	SLC37A4	Single nucleotide variant (intron variant)	SLC37A4-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 26