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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LEMD2
(S177F +2 more)
Single nucleotide variant
(missense variant)
Reduced bone mineral density
+18 more
GLikely pathogenic
LEMD2, LOC129996186
(L13R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cataract 46 juvenile-onset
GPathogenic