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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAK
(R166H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
MAK
(L98fs +1 more)
Indel
(frameshift variant +1 more)
Retinitis pigmentosa
GPathogenic