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Links from MedGen

Items: 1 to 100 of 896

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC37A4
(L317V +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(W138R +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(V375A +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(T248S +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(I344V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(E132K +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(F94fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(L44S)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(L43P +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(I346V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Deletion
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(K64R)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(splice acceptor variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(Y60*)
Single nucleotide variant
(nonsense +1 more)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Deletion
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(N360fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(V121A +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(C404* +2 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(G310S +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(F397fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(K208R +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(I273L +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(S22R)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(L141fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(W65* +1 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(R28L)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(splice acceptor variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(splice acceptor variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(W5* +1 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(S392fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(S319fs +2 more)
Insertion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(T26fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(R4G +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(R93fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Deletion
(intron variant)
Glucose-6-phosphate transport defect
GBenign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(W137* +1 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(Q175R +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(E205D +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(W154* +1 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(C362S +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(F18S)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(R319L +1 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(E282R +2 more)
Indel
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant +1 more)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(G165fs +1 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(intron variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(W330* +2 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Deletion
(splice acceptor variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(I13N)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(G50R)
Single nucleotide variant
(missense variant +1 more)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(L288fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(L144fs +1 more)
Indel
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(C121fs +1 more)
Duplication
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(S283fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic/Likely pathogenic
SLC37A4
(Y152fs +1 more)
Duplication
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(F311fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
SLC37A4
(N222fs +1 more)
Duplication
(frameshift variant)
Glucose-6-phosphate transport defect
GLikely pathogenic
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