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Links from MedGen

Items: 1 to 100 of 1547

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(L474V +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(S1218N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Duplication
(inframe_insertion)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(F777S +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(R1336G +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(E1001A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK, MYLK-AS1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(V1215I +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(S1323T +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Duplication
(splice acceptor variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
LOC126806791, MYLK
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(Y693* +2 more)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(P583T +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
LOC126806792, MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK, MYLK-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK, MYLK-AS1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(T100fs +1 more)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(P1068R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(L322M +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(G113V)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(S430R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(T965N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(K145E +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK, MYLK-AS1
(H1630P +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK-AS1, MYLK
(S1866F +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(V135A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK, MYLK-AS1
(A1783P +5 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
LOC126806791, MYLK
+1 more
(F1509L +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK, MYLK-AS1
(V79A +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(R898* +2 more)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(A751V +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(K728Q +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(E351K +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(V1002I +2 more)
Indel
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(G681R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(P277A +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(T607S +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(P447S +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(T977A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK, MYLK-AS1
(A1700D +4 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(G917R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK, MYLK-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(E1556D +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(D776G +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(F953L +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(E1399fs +2 more)
Microsatellite
(frameshift variant)
Aortic aneurysm, familial thoracic 7
GPathogenic
MYLK
(K162M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(L929M +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(P849fs +2 more)
Duplication
(frameshift variant)
Aortic aneurysm, familial thoracic 7
GPathogenic
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(G718A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
LOC126806792, MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
GLikely benign
MYLK
(M1467T +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK
(S1179F +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
MYLK, MYLK-AS1
(D1653Y +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance
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