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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG2
Microsatellite
(intron variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
IMPG2
(P1013L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
IMPG2
(R844Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
IMPG2
(L842M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPG2
(E791G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IMPG2
(I706M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IMPG2
(H705R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IMPG2
(T674I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
IMPG2
(L649P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IMPG2
(Q607fs)
Duplication
(frameshift variant)
not provided
GPathogenic
IMPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
IMPG2
(I528V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPG2
(N415D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
IMPG2
(D324H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IMPG2
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
IMPG2
(E256A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IMPG2
Duplication
(intron variant)
Retinitis Pigmentosa, Recessive
+1 more
GConflicting classifications of pathogenicity
IMPG2
(F4I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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