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Links from MedGen

Items: 1 to 100 of 260

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A2
(G272D +3 more)
Single nucleotide variant
(intron variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(I181V +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(A67V +3 more)
Single nucleotide variant
(intron variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(G305E +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(G357A +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(R77H +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(V37I +4 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(K406N +5 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(P25T)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(S336F +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Deletion
(inframe_deletion +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(P36fs)
Insertion
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(S37G)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(R101C +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(G203R +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(T174S +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(A166V +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(S241F +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(P303S +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(L23fs)
Duplication
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(L179F +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(A3E)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Deletion
(inframe_deletion +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely pathogenic
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(L60S +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(R163P +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Duplication
(inframe_insertion +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(V157I +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
+1 more
GUncertain significance
SLC35A2
(W191* +3 more)
Single nucleotide variant
(intron variant +1 more)
SLC35A2-congenital disorder of glycosylation
Gnot provided
SLC35A2
(G296R +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(Q217* +3 more)
Single nucleotide variant
(nonsense +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(G205fs +3 more)
Duplication
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely pathogenic
AKAP4, ARAF
+85 more
Duplication
Neurodegeneration with brain iron accumulation 5
+2 more
GUncertain significance
SLC35A2
(P156S +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(R261H +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(A208T +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(V34L)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(C35*)
Single nucleotide variant
(nonsense +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(P199A +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(A198T +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(G204S +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(L113F +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(P13L)
Single nucleotide variant
(intron variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(P341S +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(L312P +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(I252T +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(A283S +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
+1 more
GUncertain significance
SLC35A2
(H35Q +4 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLC35A2
(G220V +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(R160W +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(V145F +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(P36R)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(A266T +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(R314C +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(D321G +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(H127R +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(S19F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC35A2
(M1L)
Single nucleotide variant
(missense variant +2 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(I14L +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(R105W +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SLC35A2
(D39N +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(S165F +1 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
Single nucleotide variant
(intron variant)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
+2 more
GLikely benign
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