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Links from Gene

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A11
Deletion
not provided
GLikely pathogenic
SLC4A11
Deletion
not provided
GLikely pathogenic
SLC4A11
(M579L +5 more)
Single nucleotide variant
(missense variant +1 more)
Corneal dystrophy-perceptive deafness syndrome
GUncertain significance
SLC4A11
(S714fs +5 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
LOC130065323, SLC4A11
(R7L)
Single nucleotide variant
(missense variant +1 more)
Corneal dystrophy, Fuchs endothelial, 4
GUncertain significance
SLC4A11
Single nucleotide variant
(synonymous variant +1 more)
Corneal dystrophy-perceptive deafness syndrome
GUncertain significance
ITPA, SLC4A11
Single nucleotide variant
(3 prime UTR variant +1 more)
Corneal dystrophy
GUncertain significance
SLC4A11
(A688T +3 more)
Single nucleotide variant
(missense variant +1 more)
Corneal dystrophy-perceptive deafness syndrome
GLikely pathogenic
SLC4A11
Deletion
Corneal dystrophy-perceptive deafness syndrome
GPathogenic
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