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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A11
(S714fs +5 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
SLC4A11
(S489L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
SLC4A11
(R185fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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