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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPDH1
(Q107P +7 more)
Inversion
(missense variant)
Retinitis pigmentosa 10
GLikely pathogenic
IMPDH1
(E183Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 10
GUncertain significance
IMPDH1
(M86V +3 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 10
GLikely pathogenic
IMPDH1
(S363P +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
GLikely pathogenic
IMPDH1
(R111Q +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IMPDH1
(K204E +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
GUncertain significance
IMPDH1
(T394M +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
+2 more
GConflicting classifications of pathogenicity
IMPDH1
Single nucleotide variant
(stop lost)
Leber congenital amaurosis 11
+2 more
GUncertain significance
IMPDH1
(G319D +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
+3 more
GConflicting classifications of pathogenicity
IMPDH1
(G197A +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IMPDH1
(G438S +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IMPDH1
(T478I +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+1 more
GUncertain significance
IMPDH1
(K314del +7 more)
Microsatellite
(inframe_deletion)
Retinitis pigmentosa 10
+1 more
GConflicting classifications of pathogenicity
IMPDH1
(Q318H +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
GPathogenic
IMPDH1
(E572Q +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+4 more
GUncertain significance
IMPDH1
(A370T +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 11
+4 more
GConflicting classifications of pathogenicity
IMPDH1
(R224P +7 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GLikely pathogenic
IMPDH1
(V268I +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IMPDH1
(D226N +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
+2 more
GPathogenic/Likely pathogenic
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