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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHST6
(W333R)
Single nucleotide variant
(missense variant)
Macular corneal dystrophy
GConflicting classifications of pathogenicity
CHST6
(E283*)
Indel
(nonsense)
Macular corneal dystrophy
GPathogenic/Likely pathogenic
CHST6
(L200R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CHST6
(C102G)
Single nucleotide variant
(missense variant)
Macular corneal dystrophy
GPathogenic
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