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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806791, MYLK
+1 more
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
+1 more
GConflicting classifications of pathogenicity
LOC126806791, MYLK
+1 more
(D1527A +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
LOC126806791, MYLK
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
+1 more
GLikely benign
LOC126806791, MYLK
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126806791, MYLK
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
+4 more
GBenign/Likely benign
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