U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GLikely benign
MYH11, NDE1
(Q1941R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(Q1934fs +1 more)
Duplication
(frameshift variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(Q1941K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYH11, NDE1
(P1933L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GUncertain significance
MYH11, NDE1
(P1933S +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
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
NDE1, MYH11
(P1938L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+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
(P1931A +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)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
Deletion
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
(S1926G +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
Single nucleotide variant
(synonymous variant +1 more)
Lissencephaly, Recessive
+3 more
GConflicting classifications of pathogenicity
NDE1, MYH11
(L1924F +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
+3 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GLikely benign
MYH11, NDE1
(E1920K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GUncertain significance
MYH11, NDE1
(R1926H +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
(E1915K +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
+2 more
GLikely benign
MYH11, NDE1
(S1913N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
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)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
(T1911K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
NDE1, MYH11
(A1910V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(L1907V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
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
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
GConflicting classifications of pathogenicity
NDE1, MYH11
(R1900H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(A1898T +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)
not specified
+3 more
GBenign/Likely benign
MYH11, NDE1
(N1897T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(I1896N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1895H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
NDE1, MYH11
(S1893T +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
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
MYH11, NDE1
(A1889V +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 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
(R1884K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1884T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(R1878T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(N1876K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GUncertain significance
MYH11, NDE1
(E1873Q +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
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1879T +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
(intron variant)
Aortic aneurysm, familial thoracic 4
+1 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
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
+2 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
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GBenign/Likely benign
MYH11, NDE1
(R1869C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYH11, NDE1
(E1861K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+2 more
GUncertain significance
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
MYH11, NDE1
(E1859D +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
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
MYH11, NDE1
(K1849N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(K1856R +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)
not specified
+5 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(S1843W +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
+1 more
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign/Likely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
MYH11, NDE1
(E1836Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
+2 more
GConflicting classifications of pathogenicity
NDE1, MYH11
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
(Q1832H +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(E1831Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(E1838K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GLikely benign
MYH11, NDE1
(Q1829K +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
+1 more
GLikely benign
NDE1, MYH11
(E1835V +1 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+1 more
GUncertain significance
MYH11, NDE1
(E1828K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+1 more
GUncertain significance
MYH11, NDE1
(E1834K +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)
not specified
+7 more
GBenign/Likely benign
MYH11, NDE1
(I1823T +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
NDE1, MYH11
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)
Aortic aneurysm, familial thoracic 4
+2 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(A1818V +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
(S1814F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination