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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPDH1
(R344C +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
(K213T +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
GUncertain significance
IMPDH1
(K224N +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
GUncertain significance
IMPDH1
(T310P +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+1 more
GLikely pathogenic
IMPDH1
(Y61C +3 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 11
GUncertain significance
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