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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPG1
(E710* +1 more)
Single nucleotide variant
(nonsense)
Vitelliform macular dystrophy 4
GUncertain significance
IMPG1
(G433fs +1 more)
Deletion
(frameshift variant)
Vitelliform macular dystrophy 4
GLikely pathogenic
IMPG1
(S320R +1 more)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 4
GPathogenic
IMPG1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
IMPG1
Single nucleotide variant
(intron variant)
Vitelliform macular dystrophy 4
GPathogenic
IMPG1
(H440D +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GBenign
IMPG1
(R633H +1 more)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 4
+2 more
GBenign
IMPG1
(R111Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IMPG1
(M506T +1 more)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 4
+1 more
GUncertain significance
IMPG1
(L154P +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
IMPG1
(R507* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IMPG1
Single nucleotide variant
(splice donor variant)
Vitelliform macular dystrophy 4
GPathogenic
IMPG1
(L238R +1 more)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 4
GPathogenic
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