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Links from Gene

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGBL5
(P108R)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 75
GLikely pathogenic
AGBL5
(L266V)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
AGBL5
(D319G)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
AGBL5
(Q372fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
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