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Links from MedGen

Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
Single nucleotide variant
(splice acceptor variant)
Lissencephaly 4
GUncertain significance
NDE1
(D259E)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+2 more
GUncertain significance
NDE1
(E136K)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
(W18*)
Single nucleotide variant
(nonsense)
Lissencephaly 4
+1 more
GPathogenic
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
NDE1
(A272T)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
(R62G)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+1 more
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+1 more
GUncertain significance
NDE1
(D238N)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+1 more
GLikely benign
MYH11, NDE1
(E1677D +1 more)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly 4
+1 more
GUncertain significance
NDE1
Single nucleotide variant
(intron variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MIR484, NDE1
Single nucleotide variant
(non-coding transcript variant)
Lissencephaly 4
GUncertain significance
MIR484, NDE1
Single nucleotide variant
(non-coding transcript variant)
Lissencephaly 4
GUncertain significance
NDE1
(R72C)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
(E49*)
Single nucleotide variant
(nonsense)
Lissencephaly 4
GUncertain significance
NDE1
Copy number loss
Lissencephaly 4
GPathogenic
NDE1
(R37*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NDE1
Single nucleotide variant
(splice donor variant)
Lissencephaly 4
GPathogenic
NDE1
(R234H)
Single nucleotide variant
(missense variant)
NDE1-related microhydranencephaly
+4 more
GConflicting classifications of pathogenicity
NDE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+3 more
GBenign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+3 more
GBenign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
(E1344V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly, Recessive
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GBenign
MYH11, NDE1
Single nucleotide variant
(intron variant +1 more)
Lissencephaly 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GBenign/Likely benign
NDE1
(S307R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NDE1
(V278L)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+2 more
GUncertain significance
NDE1
(R275W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDE1
(A249S)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDE1
(R234C)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+1 more
GConflicting classifications of pathogenicity
NDE1
Single nucleotide variant
(synonymous variant)
Lissencephaly 4
GUncertain significance
NDE1
(S211F)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
(I146F)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDE1
(T32M)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+1 more
GConflicting classifications of pathogenicity
NDE1
(E12G)
Single nucleotide variant
(missense variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
Lissencephaly 4
+1 more
GConflicting classifications of pathogenicity
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
NDE1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GBenign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GLikely benign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GUncertain significance
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GLikely benign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GBenign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GBenign
NDE1
Single nucleotide variant
(5 prime UTR variant)
Lissencephaly 4
GBenign
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