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Links from MedGen

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCX
(H205D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
CAPN6, DCX
Copy number loss
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(A315V +6 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
Single nucleotide variant
(intron variant)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
DCX
(P179H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(G319fs +5 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
DCX
(S147P +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
DCX
(V101G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
Deletion
(inframe_indel)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(G100R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(P278A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
DCX
(K202del +1 more)
Microsatellite
(inframe_deletion)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(T183I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(R170Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(V210fs +1 more)
Deletion
(frameshift variant)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(R102S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(Q160fs +1 more)
Deletion
(frameshift variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
Single nucleotide variant
(intron variant)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
DCX
(Q160fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
DCX
(D263G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(D56E)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly type 1 due to doublecortin gene mutation
GUncertain significance
DCX
Single nucleotide variant
(splice donor variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(A152T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
+2 more
GConflicting classifications of pathogenicity
DCX
(T222I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(R157G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic
DCX
(P64L)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(Y145N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GLikely pathogenic
DCX
(V182F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DCX
(Y229fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
DCX
(Q169* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DCX
(N94D +1 more)
Single nucleotide variant
(missense variant)
Abnormal cortical gyration
GPathogenic
DCX
(R303* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DCX
(R272* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DCX
Single nucleotide variant
(splice acceptor variant)
Lissencephaly type 1 due to doublecortin gene mutation
+1 more
GPathogenic/Likely pathogenic
DCX
(G223R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCX
(R196C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
+2 more
GPathogenic/Likely pathogenic
DCX
(R186H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCX
(R78L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
DCX
(R76C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
+1 more
GPathogenic/Likely pathogenic
DCX
(R102H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
+2 more
GConflicting classifications of pathogenicity
DCX
(A71S +1 more)
Single nucleotide variant
(missense variant)
Subcortical laminar heterotopia, X-linked
+1 more
GPathogenic
DCX
(R196H +1 more)
Single nucleotide variant
(missense variant)
Ectopic tissue
+3 more
GPathogenic
DCX
(S47R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCX
(T203R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GPathogenic
DCX
(R59L +1 more)
Single nucleotide variant
(missense variant)
Subcortical laminar heterotopia, X-linked
+1 more
GPathogenic
DCX
(Y125H +1 more)
Single nucleotide variant
(missense variant)
Subcortical laminar heterotopia, X-linked
+1 more
GPathogenic
DCX
(R192W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DCX
(D62N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
GPathogenic/Likely pathogenic
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