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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A11
(R869C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
SLC4A11
(A752fs +5 more)
Duplication
(frameshift variant +1 more)
Congenital hereditary endothelial dystrophy of cornea
GPathogenic
SLC4A11
(S435W +5 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hereditary endothelial dystrophy of cornea
GPathogenic
SLC4A11
(S426I +5 more)
Single nucleotide variant
(missense variant +1 more)
Congenital hereditary endothelial dystrophy of cornea
GUncertain significance
SLC4A11
Single nucleotide variant
(synonymous variant +1 more)
Corneal dystrophy
+4 more
GConflicting classifications of pathogenicity
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