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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
NDE1
(R72H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDE1
(A101V)
Single nucleotide variant
(missense variant)
Lissencephaly 4
+3 more
GUncertain significance
NDE1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NDE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NDE1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
NDE1
(T209M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDE1
(S214F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDE1
(R234H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NDE1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
NDE1
(D280N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NDE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYH11, NDE1
(R1953fs +1 more)
Microsatellite
(3 prime UTR variant +2 more)
not provided
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GBenign/Likely benign
MYH11, NDE1
Microsatellite
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1846V +1 more)
Single nucleotide variant
(missense variant +1 more)
MYH11-related condition
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(V1759I +1 more)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly, Recessive
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(intron variant)
Lissencephaly, Recessive
+6 more
GBenign/Likely benign
NDE1, MYH11
(R1447W +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(V1310M +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
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