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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CA4
(R69H)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
CA4
(R219S)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 17
GUncertain significance
CA4
(R14W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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