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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASP10
(I406L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypomyelination and Congenital Cataract
+2 more
GConflicting classifications of pathogenicity
HYCC1
Deletion
(splice acceptor variant +1 more)
Hypomyelination and Congenital Cataract
GPathogenic
HYCC1
Single nucleotide variant
(splice donor variant)
Hypomyelination and Congenital Cataract
GPathogenic
HYCC1
(L53P)
Single nucleotide variant
(missense variant)
Hypomyelination and Congenital Cataract
GPathogenic
HYCC1
Single nucleotide variant
(splice donor variant)
Hypomyelination and Congenital Cataract
GPathogenic
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