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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(A3T)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(I226M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC35A1
(L176del)
Microsatellite
(inframe_deletion)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(Q159*)
Single nucleotide variant
(nonsense)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(S147P)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic
SLC35A1
(C127S)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Duplication
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(V255L +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(T244S +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(G277D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC35A1
(I236L +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(L57F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC35A1
Deletion
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(E171G)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(V275I +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(I233M)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(F190S)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GLikely benign
SLC35A1
(E196K)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
SLC35A1
(T156R)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
SLC35A1
(Q101H)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(A253P +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(T45A)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SLC35A1
(L297R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SLC35A1, RARS2
Single nucleotide variant
(intron variant)
Pontoneocerebellar hypoplasia
+3 more
GBenign/Likely benign
SLC35A1
(A3S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC35A1
(N7H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SLC35A1
Single nucleotide variant
(5 prime UTR variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GBenign
SLC35A1
(V93fs +1 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A1-congenital disorder of glycosylation
GPathogenic
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