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Items: 1 to 100 of 380

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDE1
(S9T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDE1
(T32M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NDE1
(E34G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDE1
(R37Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDE1
(Q109E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(R129H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(A130T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(P213L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDE1
(T215M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(D259E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NDE1
(R262G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(R262Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDE1
(K270R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDE1
(V278L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NDE1
(S307R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NDE1, MYH11
(A1963T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(T1960N +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(T1958M +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GLikely benign
NDE1, MYH11
(E1957Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
(G1960S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
(A1951V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NDE1, MYH11
(E1956D +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
(R1946G +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1952H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1952C +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+4 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
Lissencephaly, Recessive
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(V1937L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(T1934S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(N1939K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GBenign/Likely benign
NDE1, MYH11
Insertion
(intron variant +2 more)
Visceral myopathy 2
+4 more
GUncertain significance
MYH11, NDE1
(R1937Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(A1923T +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+4 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
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)
not provided
+2 more
GLikely benign
MYH11, NDE1
(S1913R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(E1912Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
(T1911K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
NDE1, MYH11
(R1905Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
(N1906S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
(R1895H +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
(E1899D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
(A1889V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
MYH11-related condition
+3 more
GLikely benign
MYH11, NDE1
(V1879I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GLikely benign
MYH11, NDE1
(N1883S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1872P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(A1879T +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
(E1866G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(E1866K +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
MYH11-related condition
+3 more
GBenign/Likely benign
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
MYH11, NDE1
(R1862H +1 more)
Single nucleotide variant
(missense variant +1 more)
Isolated thoracic aortic aneurysm
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(E1861K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
MYH11, NDE1
(D1867G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Lissencephaly, Recessive
+6 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(S1843L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+6 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
MYH11, NDE1
(A1846V +1 more)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly, Recessive
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GLikely benign
MYH11, NDE1
(A1841T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(E1833D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
NDE1, MYH11
(E1831Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(V1830I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
(Q1829E +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
+7 more
GBenign/Likely benign
MYH11, NDE1
(A1824T +1 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(I1823T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1818V +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
MYH11, NDE1
(A1817V +1 more)
Single nucleotide variant
(missense variant +1 more)
MYH11-related condition
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1817fs +1 more)
Duplication
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(I1816T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYH11, NDE1
(S1814F +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+4 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Visceral myopathy 2
+7 more
GBenign/Likely benign
MYH11, NDE1
(F1812S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
(V1808I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Lissencephaly, Recessive
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(G1806A +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(M1804I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
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