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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(T2315A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYLK
(D717N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+8 more
GUncertain significance
COL3A1
Indel
Aortic dissection
GLikely pathogenic
FBN1
(C160R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+5 more
GPathogenic/Likely pathogenic
FBN1
(Y2425C)
Single nucleotide variant
(missense variant)
Polycystic liver disease 1
+3 more
GLikely pathogenic
FBN1
(R122C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+14 more
GPathogenic
LDLR
(E228K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
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