U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35D1
(T277M)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Deletion
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(S53A)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(A199V)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(Y298H)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(T253A)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(V326L)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(G47S)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(V57M)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(C74Y)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(L138V)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(P70H)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(Q336P)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(T22fs)
Deletion
(frameshift variant)
Schneckenbecken dysplasia
GPathogenic
SLC35D1
Deletion
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(A82S)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(G202A)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Deletion
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(E246D)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(L144Q)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(A282D)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(S33L)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+1 more
GConflicting classifications of pathogenicity
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GBenign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Duplication
(intron variant)
Schneckenbecken dysplasia
GBenign/Likely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GBenign
SLC35D1
(P17L)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(I319V)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(splice donor variant)
Schneckenbecken dysplasia
GLikely pathogenic
SLC35D1
(R7L)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(A92V)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(M164I)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(Q8del)
Deletion
(inframe_deletion)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(F259Y)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(S126G)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(L185T)
Indel
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(P70S)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(V166fs)
Deletion
(frameshift variant)
Schneckenbecken dysplasia
GLikely pathogenic
SLC35D1
(M301T)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
+1 more
GUncertain significance
SLC35D1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC35D1
Single nucleotide variant
(intron variant)
Schneckenbecken dysplasia
+1 more
GBenign
SLC35D1
(V196I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC35D1
(A82T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SLC35D1
Deletion
(intron variant)
not provided
+1 more
GBenign
SLC35D1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC35D1
(Y236C)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
(Y271C)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
+1 more
GUncertain significance
SLC35D1
(K13E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC35D1
(I299fs)
Deletion
(frameshift variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(E28D)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
(T238A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC35D1
(A176S)
Single nucleotide variant
(missense variant)
Schneckenbecken dysplasia
GUncertain significance
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GBenign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
SLC35D1
Single nucleotide variant
(synonymous variant)
Schneckenbecken dysplasia
GLikely benign
Format
Items per page
Sort by
Choose Destination