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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMILIN1
(S40fs)
Duplication
(frameshift variant)
not provided
GPathogenic
EMILIN1
(R51fs)
Deletion
(frameshift variant)
Arterial tortuosity
GPathogenic
EMILIN1
(A278fs)
Duplication
(frameshift variant)
Arterial tortuosity
GPathogenic
EMILIN1
(Q536*)
Single nucleotide variant
(nonsense)
Arterial tortuosity
GPathogenic
EMILIN1
(Q828fs)
Duplication
(frameshift variant)
Arterial tortuosity
GPathogenic
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