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Links from MedGen

Items: 1 to 100 of 416

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
(G448R)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GPathogenic
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(D451G)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
(R322G)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S502T)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(V369I)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S509A)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(P222S)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
+1 more
GUncertain significance
DOLK
(G67E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
(R297C)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(T347A)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(T37P)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(I343T)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(stop lost)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S19L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
(D524V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(D40N)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(V361A)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S324F)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(V38A)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(R399G)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S486T)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(N525S)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(A368V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(R297H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
(E398G)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S455T)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L261I)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(G149D)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L159F)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(P105S)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(G111D)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(I349L)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L198fs)
Duplication
(frameshift variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(V314A)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(I419fs)
Deletion
(frameshift variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(N319S)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(G145C)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(L64P)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(R465C)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(R187C)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(A435fs)
Deletion
(frameshift variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(S33I)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(Q428fs)
Deletion
(frameshift variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(F110L)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L536V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(G450S)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(T476I)
Indel
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(I534V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
(L526F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
GLikely benign
DOLK
Deletion
(inframe_deletion)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
Duplication
(inframe_insertion)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(A9V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(A102G)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(S267I)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L123F)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(R322Q)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
+1 more
GUncertain significance
DOLK
(M234I)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(R134C)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(L93V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
+2 more
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
(R356W)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
+1 more
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
DOLK
(M248T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
DOLK
(V20G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
Single nucleotide variant
(synonymous variant)
DK1-congenital disorder of glycosylation
+1 more
GLikely benign
DOLK
(F174L)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK
(G443S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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