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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCN
(C159G +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
Gnot provided
DCN
(G169R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
(D43N)
Single nucleotide variant
(missense variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(synonymous variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(synonymous variant +1 more)
Congenital stromal corneal dystrophy
GLikely benign
DCN
(K187R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
(N211S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
(T77M +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
+1 more
GConflicting classifications of pathogenicity
DCN
Single nucleotide variant
(synonymous variant +1 more)
Congenital stromal corneal dystrophy
+1 more
GBenign
DCN
(A16fs)
Deletion
(frameshift variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
Congenital stromal corneal dystrophy
GLikely benign
DCN
Single nucleotide variant
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
Congenital stromal corneal dystrophy
GLikely benign
DCN
Single nucleotide variant
Congenital stromal corneal dystrophy
GLikely benign
DCN
Single nucleotide variant
(5 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(5 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(synonymous variant)
Congenital stromal corneal dystrophy
+1 more
GBenign
DCN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DCN
Single nucleotide variant
(intron variant)
DCN-related disorder
+2 more
GBenign
DCN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
DCN
(K142E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
DCN
(I177F)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GBenign
DCN
(I207M +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GConflicting classifications of pathogenicity
DCN
(T268M +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
+1 more
GBenign
DCN
Single nucleotide variant
(synonymous variant +1 more)
Congenital stromal corneal dystrophy
GLikely benign
DCN
(V306A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
DCN
(P315H +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GLikely benign
DCN
Single nucleotide variant
(synonymous variant +1 more)
Congenital stromal corneal dystrophy
GBenign
DCN
(Q354H +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GBenign
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GBenign
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GBenign
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GBenign
DCN
Single nucleotide variant
(3 prime UTR variant)
Congenital stromal corneal dystrophy
GUncertain significance
DCN
(K174fs +3 more)
Deletion
(frameshift variant +1 more)
Congenital stromal corneal dystrophy
GPathogenic
DCN
(G129fs +3 more)
Deletion
(frameshift variant +1 more)
Congenital stromal corneal dystrophy
GPathogenic
DCN
(P167fs +3 more)
Deletion
(frameshift variant +1 more)
Congenital stromal corneal dystrophy
GPathogenic
DCN
(S176fs +3 more)
Deletion
(frameshift variant +1 more)
Congenital stromal corneal dystrophy
GPathogenic
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