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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
(W18*)
Single nucleotide variant
(nonsense)
Lissencephaly 4
+1 more
GPathogenic
NDE1
(R190G)
Single nucleotide variant
(missense variant)
NDE1-related microhydranencephaly
GUncertain significance
NDE1
(R234H)
Single nucleotide variant
(missense variant)
NDE1-related microhydranencephaly
+3 more
GUncertain significance
NDE1
(A101V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NDE1
Deletion
(splice acceptor variant +2 more)
NDE1-related microhydranencephaly
GPathogenic
NDE1
(T52M)
Single nucleotide variant
(missense variant)
NDE1-related microhydranencephaly
+3 more
GUncertain significance
NDE1
(S291F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDE1
(P229fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
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