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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BEST1
(R122W +2 more)
Single nucleotide variant
(missense variant +2 more)
Vitelliform macular dystrophy 2
GLikely pathogenic
BEST1
(D195H +3 more)
Single nucleotide variant
(missense variant +3 more)
Vitelliform macular dystrophy 2
GLikely pathogenic