ClinVar for MedGen (Select 6640) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879971	NM_001164277.2(SLC37A4):c.-594A>T	SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I	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 879613	NM_001164277.2(SLC37A4):c.-99A>G	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 878151	NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 878150	NM_001164277.2(SLC37A4):c.148+7C>T	SLC37A4	Single nucleotide variant (intron variant)	Glycogen storage disease, type I	GUncertain significance
Select item 878104	NM_001164277.2(SLC37A4):c.*204C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 877942	NM_001164277.2(SLC37A4):c.*263T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 877941	NM_001164277.2(SLC37A4):c.*338T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 877116	NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)	SLC37A4 (I19V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 877115	NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 877114	NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)	SLC37A4 (E130D +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 581571	NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)	SLC37A4 (S172F +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GUncertain significance
Select item 431869	NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)	SLC37A4 (R126Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 392126	NM_001164277.2(SLC37A4):c.-183C>T	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 323404	NM_000151.4(G6PC1):c.*2687del	G6PC1	Deletion (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 323399	NM_000151.4(G6PC1):c.*2311C>T	G6PC1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 323389	NM_000151.4(G6PC1):c.*1545TTTTAGAA[1]	G6PC1	Microsatellite (3 prime UTR variant)	Glycogen storage disease, type I	GBenign
Select item 323385	NM_000151.4(G6PC1):c.*1313A>G	G6PC1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 323382	NM_000151.4(G6PC1):c.*1227dup	G6PC1	Duplication (3 prime UTR variant)	Glycogen storage disease, type I	GBenign
Select item 302722	NM_001164277.1(SLC37A4):c.-755T>A	SLC37A4	Single nucleotide variant	Glycogen storage disease, type I +1 more	GBenign
Select item 302721	NM_001164277.2(SLC37A4):c.-700+9C>T	SLC37A4	Single nucleotide variant (intron variant)	Glycogen storage disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 302720	NM_001164277.2(SLC37A4):c.-670C>T	SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I	GUncertain significance
Select item 302719	NM_001164277.2(SLC37A4):c.-573C>G	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 (intron variant +1 more)	Glycogen storage disease, type I +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 302716	NM_001164277.2(SLC37A4):c.-291del	SLC37A4	Deletion (5 prime UTR variant +1 more)	Glycogen storage disease, type I	GUncertain significance
Select item 302715	NM_001164277.2(SLC37A4):c.-279C>T	SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I	GUncertain significance
Select item 302714	NM_001164277.2(SLC37A4):c.-217G>A	SLC37A4	Single nucleotide variant (intron variant +1 more)	Glycogen storage disease, type I	GUncertain significance
Select item 302713	NM_001164277.2(SLC37A4):c.-195-11G>T	SLC37A4	Single nucleotide variant (intron variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302712	NM_001164277.2(SLC37A4):c.-108G>A	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302711	NM_001164277.2(SLC37A4):c.-64C>T	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302710	NM_001164277.2(SLC37A4):c.-50T>G	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302709	NM_001164277.2(SLC37A4):c.-42G>C	SLC37A4	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type I	GLikely benign
Select item 302708	NM_001164277.2(SLC37A4):c.382-6C>A	SLC37A4	Single nucleotide variant (intron variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302707	NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 302706	NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type I +5 more	GConflicting classifications of pathogenicity
Select item 302705	NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302704	NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)	SLC37A4 (A409T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 302703	NM_001164277.2(SLC37A4):c.*5A>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 302702	NM_001164277.2(SLC37A4):c.*31C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302701	NM_001164277.2(SLC37A4):c.*125G>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I +1 more	GBenign
Select item 302700	NM_001164277.2(SLC37A4):c.*138C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302699	NM_001164277.2(SLC37A4):c.*139G>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302698	NM_001164277.2(SLC37A4):c.*283T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302697	NM_001164277.2(SLC37A4):c.*298C>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302696	NM_001164277.2(SLC37A4):c.*360C>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GUncertain significance
Select item 302695	NM_001164277.2(SLC37A4):c.*418T>C	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type I	GBenign
Select item 285532	NM_000151.4(G6PC1):c.340+10C>A	G6PC1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215177	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	SLC37A4 (A156V +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 139195	NM_001164277.2(SLC37A4):c.-516G>A	SLC37A4	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type I +1 more	GBenign
Select item 139187	NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type I +2 more	GBenign
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
Select item 68290	NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)	SLC37A4 (N27K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 21062	NM_000151.4(G6PC1):c.79del (p.Gln27fs)	G6PC1 (Q27fs)	Deletion (frameshift variant)	G6PC1-related condition +3 more	GPathogenic
Select item 6928	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	SLC37A4 (W96* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity

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Items: 55