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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN5A
(P1565fs +5 more)
Deletion
(frameshift variant)
Brugada syndrome 1
GLikely pathogenic
LOC126862663, RNF213
+1 more
(A4188T)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GUncertain significance
LOC126862663, RNF213
+1 more
(K4185E)
Single nucleotide variant
(missense variant)
Moyamoya disease 2
GLikely pathogenic
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