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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIITA
(S1115N +5 more)
Single nucleotide variant
(missense variant +1 more)
Rheumatoid arthritis
+5 more
GUncertain significance
FLNA
(T2480N +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Predisposition to cancer
+19 more
GPathogenic
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