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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IMPG1
(E580K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IMPG1
(F372L +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
IMPG1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
IMPG1
(T261N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
IMPG1
(L160P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IMPG1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
IMPG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
IMPG1
(L154P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IMPG1
(Q88*)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
GLikely pathogenic
IMPG1
(L63S)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
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