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Items: 1 to 100 of 587

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Lissencephaly 4
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
(S1971T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(N1973S +1 more)
Single nucleotide variant
(intron variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(A1963T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+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
(R1961* +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
NDE1, MYH11
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
MYH11, NDE1
(E1957Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
NDE1, MYH11
(E1955V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(E1955K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(A1951V +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)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
NDE1, MYH11
(I1948T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
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)
Visceral myopathy 2
+4 more
GLikely benign
MYH11, NDE1
(S1942F +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
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
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
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
MYH11, NDE1
(R1937Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(stop lost +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(Q1945* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
NDE1, MYH11
(S1944L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
(Q1941R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(Q1941K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GUncertain significance
MYH11, NDE1
(Q1934fs +1 more)
Duplication
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(P1933L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
(P1933R +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(P1933Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
MYH11, NDE1
(P1933S +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
(P1940A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
MYH11, NDE1
(P1938L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(P1938H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(P1931S +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)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
Microsatellite
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Microsatellite
(intron variant)
Connective tissue disorder
+3 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
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)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
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 provided
+3 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GLikely benign
MYH11, NDE1
(E1920K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
MYH11, NDE1
(R1926H +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)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NDE1, MYH11
(S1913R +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
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
(T1918M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 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
(R1905Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYH11, NDE1
(R1905W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
(Q1904R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1901K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(N1906S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
MYH11, NDE1
(A1898T +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
NDE1, MYH11
(N1904K +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
+3 more
GBenign/Likely benign
NDE1, MYH11
(R1895H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYH11, NDE1
(R1895C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYH11, NDE1
(R1895S +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
GLikely benign
MYH11, NDE1
(E1899D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
MYH11, NDE1
(E1892K +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)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
(L1893fs +1 more)
Deletion
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
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)
not specified
+3 more
GLikely benign
NDE1, MYH11
(L1882F +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(Q1881R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(V1879I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MYH11, NDE1
(R1878T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(E1873Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1872V +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
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GLikely benign
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)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
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