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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(G399S +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(E451D +2 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(T95M +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(S414R +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
Deletion
(splice donor variant)
Glucose-6-phosphate transport defect
GPathogenic/Likely pathogenic
SLC37A4
(F164L +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GUncertain significance
SLC37A4
(R350* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
+2 more
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIw
+2 more
GLikely benign
SLC37A4
(R4L +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(G5R)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(M242V +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
+2 more
GConflicting classifications of pathogenicity
SLC37A4
(M242T +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(V162L +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIw
+2 more
GUncertain significance
SLC37A4
(R53W +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IIw
+2 more
GUncertain significance
SLC37A4
(G5S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IIw
+3 more
GUncertain significance
SLC37A4
(R10H)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IIw
+3 more
GUncertain significance
SLC37A4
(R77H +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(E181G +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(P43S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IIw
+4 more
GUncertain significance
SLC37A4
(V34I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IIw
+3 more
GUncertain significance
SLC37A4
(S326Y +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(L182F +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(R246W +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(P285L +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(R166C +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(V322fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
+1 more
GLikely pathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Phosphate transport defect
+2 more
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
+2 more
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
SLC37A4-related disorder
+4 more
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
SLC37A4-related disorder
+4 more
GLikely benign
SLC37A4
(R124H +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(G357E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC37A4
(S81F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC37A4
(L138V +1 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(E356A +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GConflicting classifications of pathogenicity
SLC37A4
(I314V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SLC37A4
(C48fs +1 more)
Duplication
(frameshift variant)
Glucose-6-phosphate transport defect
+2 more
GPathogenic
SLC37A4
(L186F +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GUncertain significance
SLC37A4
(S172F +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GUncertain significance
SLC37A4
(A373T +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(A405V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(Y25fs)
Deletion
(frameshift variant +1 more)
Glucose-6-phosphate transport defect
+2 more
GPathogenic/Likely pathogenic
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(A58V)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(W227R +1 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Phosphate transport defect
+2 more
GLikely benign
SLC37A4
(S392N +2 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(H301D +1 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(V69L)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type I
+5 more
GConflicting classifications of pathogenicity
SLC37A4
(R319Q +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(R166H +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GConflicting classifications of pathogenicity
SLC37A4
(A156V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC37A4
(M145V +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
Duplication
(inframe_insertion)
Glucose-6-phosphate transport defect
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SLC37A4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SLC37A4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SLC37A4
Single nucleotide variant
(intron variant)
Phosphate transport defect
+5 more
GBenign/Likely benign
SLC37A4
(R300H +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GPathogenic/Likely pathogenic
SLC37A4
(R28C)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
+2 more
GPathogenic
SLC37A4
(G20D)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
+3 more
GPathogenic/Likely pathogenic
SLC37A4
(G150R +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GPathogenic/Likely pathogenic
SLC37A4
(G50E)
Single nucleotide variant
(missense variant +1 more)
Phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(G339D +2 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+3 more
GPathogenic/Likely pathogenic
SLC37A4
(R415* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
SLC37A4
(R28H)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IIw
+3 more
GPathogenic/Likely pathogenic
SLC37A4
Single nucleotide variant
(intron variant +1 more)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
SLC37A4
(W96* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
SLC37A4
(L275fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
+5 more
GPathogenic
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