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Links from MedGen

Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A2
(S318T +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(Y291* +2 more)
Single nucleotide variant
(nonsense)
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(W222fs +2 more)
Deletion
(frameshift variant)
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
(P298Q +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(G119R)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Microsatellite
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(splice donor variant +1 more)
Fanconi-Bickel syndrome
GLikely pathogenic
SLC2A2
(G20D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Fanconi-Bickel syndrome
GLikely pathogenic
SLC2A2
(G162fs +1 more)
Duplication
(frameshift variant +1 more)
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
(Y164del +1 more)
Deletion
(inframe_deletion +1 more)
Fanconi-Bickel syndrome
GUncertain significance
ACTRT3, CLDN11
+25 more
Duplication
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Deletion
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(I283T +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(A497V +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(I262N +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(M74V)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(H2Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(A20T +1 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(I172K +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(L132P +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(L468R +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(L175H +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(V45D)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
+1 more
GUncertain significance
SLC2A2
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(D65E)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(T7N)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
+1 more
GUncertain significance
SLC2A2
(G177S +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Deletion
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(V18L +1 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Microsatellite
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Deletion
(intron variant)
Fanconi-Bickel syndrome
GBenign
SLC2A2
(S42L +1 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(V250L +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(N391S +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant +2 more)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(R301L +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(Y126H +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant +2 more)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(P76A)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(H44Y)
Single nucleotide variant
(missense variant +2 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(Y128H +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(G25R)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(V277A +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(A285V +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(K105T +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(E108K +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(R109Q +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GUncertain significance
SLC2A2
(W117*)
Single nucleotide variant
(nonsense +2 more)
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
(R109* +2 more)
Single nucleotide variant
(nonsense)
Type 2 diabetes mellitus
+1 more
GPathogenic
SLC2A2
Single nucleotide variant
(synonymous variant +2 more)
Fanconi-Bickel syndrome
GBenign
SLC2A2
Single nucleotide variant
(synonymous variant +1 more)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
SLC2A2
Single nucleotide variant
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Single nucleotide variant
(synonymous variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
Microsatellite
(intron variant)
Fanconi-Bickel syndrome
GLikely benign
SLC2A2
(P260L +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(A14T +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Duplication
(splice donor variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(D27V)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(S224R +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Single nucleotide variant
(splice donor variant)
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
(R193H +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(K488R +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Deletion
Fanconi-Bickel syndrome
GPathogenic
SLC2A2
(G20C)
Single nucleotide variant
(missense variant +1 more)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
Deletion
(inframe_deletion +1 more)
not specified
+1 more
GUncertain significance
SLC2A2
(F398L +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
GUncertain significance
SLC2A2
(V116G +2 more)
Single nucleotide variant
(missense variant)
Fanconi-Bickel syndrome
+2 more
GUncertain significance
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