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Links from MedGen

Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPDH1
Single nucleotide variant
(stop lost)
Leber congenital amaurosis 11
+2 more
GUncertain significance
IMPDH1
(K213T +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
GUncertain significance
IMPDH1
(K224N +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
GUncertain significance
IMPDH1
(Y61C +3 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 11
GUncertain significance
IMPDH1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1, LOC107986845
Single nucleotide variant
(non-coding transcript variant +1 more)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
(R132W +5 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
IMPDH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(G319D +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
IMPDH1
(P337L +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign/Likely benign
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(T147A +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GLikely benign
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
(A515S +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
(G440D +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1, LOC107986845
Single nucleotide variant
(non-coding transcript variant +1 more)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1, LOC129999258
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
(T115M +5 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
IMPDH1
(E171Q +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GUncertain significance
IMPDH1, LOC129999258
(R24P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 11
+2 more
GBenign/Likely benign
IMPDH1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
IMPDH1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(H271R +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(Q533R +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(T478I +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
(R344C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IMPDH1
(T310P +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+1 more
GLikely pathogenic
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign
IMPDH1, LOC129999258
Single nucleotide variant
(5 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1, LOC129999258
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(R246Q +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
IMPDH1
(T257A +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 11
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 11
+3 more
GBenign
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
IMPDH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(M568I +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign/Likely benign
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+1 more
GBenign
IMPDH1, LOC107986845
Single nucleotide variant
(non-coding transcript variant +1 more)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IMPDH1
(E572Q +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GUncertain significance
IMPDH1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
IMPDH1
(A370T +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+5 more
GConflicting classifications of pathogenicity
IMPDH1
(N198K +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
GPathogenic
IMPDH1
(R105W +5 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 11
+2 more
GConflicting classifications of pathogenicity
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