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Links from MedGen

Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDOST
(P85L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(F429L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(E2D)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(V276M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(F283fs)
Deletion
(frameshift variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(I343T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
KIF17, LDLRAD2
+49 more
Duplication
Congenital disorder of glycosylation type Ir
+2 more
GUncertain significance
DDOST
(R280H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDOST
(V393M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(Y409C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(A303V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Duplication
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(A415T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDOST
(R290C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(P28L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(S295F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(V23G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(K211M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(I103T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(S407L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(I140T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Microsatellite
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(splice acceptor variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(P28S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(I178V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDOST
(R280C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(N79K)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(splice donor variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(N93S)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(F429del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(P209L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(F404L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(I94F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(V111I)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(C128G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(V96A)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(P212L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(H384R)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GBenign
DDOST
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(R40Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(F252del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(D52N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
Single nucleotide variant
(5 prime UTR variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(E56G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(F251S)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(S11F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
+1 more
GConflicting classifications of pathogenicity
DDOST
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type Ir
GLikely benign
DDOST
(S4G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(K354del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(H143D)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(R290L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(L37F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(N79S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DDOST
(P261L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(E286del)
Microsatellite
(inframe_deletion)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(D63A)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
DDOST
(D366N)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation type Ir
GUncertain significance
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