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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP418
(W185* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
CFAP418
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 64
GPathogenic
CFAP418
(Q182R +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GPathogenic
CFAP418
(L166* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 64
GPathogenic
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