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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM161A
(R584K)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
FAM161A
(R523*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
FAM161A
(T452fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
+2 more
GPathogenic
FAM161A
(H441fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
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