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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG2
(M151K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 56
GUncertain significance
IMPG2
(S963G)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 5
+2 more
GUncertain significance
IMPG2
Single nucleotide variant
(intron variant)
Vitelliform macular dystrophy 5
+1 more
GBenign
IMPG2
(E1137fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 56
GPathogenic
IMPG2
(Q856*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 56
GPathogenic
IMPG2
Insertion
(intron variant)
Vitelliform macular dystrophy 5
+2 more
GBenign
IMPG2
(E745fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
IMPG2
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 56
GPathogenic
IMPG2
(F1060C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 56
+1 more
GUncertain significance
IMPG2
(Q363*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
IMPG2
(T196A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 56
GUncertain significance
IMPG2
(L249F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
IMPG2
(W137*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 56
+2 more
GPathogenic/Likely pathogenic
IMPG2
(C1038F)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
IMPG2
(V609fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 56
GPathogenic
IMPG2
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 56
GPathogenic
IMPG2
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
IMPG2
Microsatellite
(intron variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
IMPG2
(T674I)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 5
+5 more
GBenign
IMPG2
(R964*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
IMPG2
(R906*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
IMPG2
Deletion
(splice acceptor variant +1 more)
Retinitis pigmentosa 56
GPathogenic
IMPG2
(S212*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+1 more
GPathogenic
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