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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN, RDH12
(M1T)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis
GUncertain significance
GPHN, RDH12
(T55M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GPHN, RDH12
(T155I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
GPHN, RDH12
(R169W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
+2 more
GPathogenic/Likely pathogenic
GPHN, RDH12
+1 more
(R234H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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