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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPE65
(R446S)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GPathogenic
RPE65
Single nucleotide variant
(synonymous variant)
RPE65-related recessive retinopathy
GPathogenic
CRB1
(C948R +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+4 more
GPathogenic
GIGYF2, KCNJ13
(T153I +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 16
GLikely pathogenic
PDE6A
Single nucleotide variant
(intron variant)
Leber congenital amaurosis
GPathogenic
AHI1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis
GPathogenic
CEP290
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
Single nucleotide variant
(intron variant)
Leber congenital amaurosis
GPathogenic
RPGRIP1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 13
+1 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RPGRIP1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
SPATA7, LOC130056226
(V7I)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GPathogenic
SPATA7
(E405D +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GPathogenic
CLUAP1
(L273F +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GPathogenic
SLC38A8
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
RP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely pathogenic
RP2
Single nucleotide variant
(intron variant)
Leber congenital amaurosis
GPathogenic
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