U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROM1
(M484V +1 more)
Single nucleotide variant
(missense variant)
Retinal macular dystrophy type 2
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
Stargardt disease 4
+4 more
GBenign
PROM1
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 12
+4 more
GBenign
PROM1
(T730fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PROM1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PROM1
Single nucleotide variant
(intron variant)
not provided
GPathogenic
PROM1
(R390C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
(D820N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(Y84N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(R675G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(V117M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(V227M +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PROM1
(Y454H +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PROM1
(S689R +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 12
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Cone-rod dystrophy 12
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Cone-rod dystrophy 12
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Cone-rod dystrophy 12
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Cone-rod dystrophy 12
+3 more
GUncertain significance
PROM1
(G53D)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
(G127V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 12
+3 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 12
+3 more
GConflicting classifications of pathogenicity
PROM1
(S481C +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
(N571H +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 12
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(splice acceptor variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
PROM1
(A816P +1 more)
Single nucleotide variant
(missense variant)
Retinal macular dystrophy type 2
+5 more
GUncertain significance
PROM1
(D767V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 41
+5 more
GConflicting classifications of pathogenicity
PROM1
(N337D +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GUncertain significance
PROM1
(R375S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(A226V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
PROM1
(H584R +1 more)
Single nucleotide variant
(missense variant)
PROM1-related condition
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Stargardt disease 4
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(S649L +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PROM1
(L400P +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(5 prime UTR variant)
Retinal macular dystrophy type 2
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(I52T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 12
+4 more
GUncertain significance
PROM1
(I61V)
Single nucleotide variant
(missense variant)
Stargardt disease 4
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(R186W +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+5 more
GBenign/Likely benign
PROM1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Stargardt disease 4
+4 more
GConflicting classifications of pathogenicity
PROM1
(G240R +1 more)
Single nucleotide variant
(missense variant)
Stargardt disease 4
+4 more
GUncertain significance
PROM1
(R244Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(L321F +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 12
+6 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 12
+4 more
GConflicting classifications of pathogenicity
PROM1
(L424S +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(L427M +1 more)
Single nucleotide variant
(missense variant)
Stargardt disease 4
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(L497F +1 more)
Single nucleotide variant
(missense variant)
Retinal macular dystrophy type 2
+4 more
GConflicting classifications of pathogenicity
PROM1
(R526W +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 12
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Stargardt disease 4
+4 more
GConflicting classifications of pathogenicity
PROM1
(L573F +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PROM1
(C624Y +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(Y652D +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(L661S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PROM1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+4 more
GUncertain significance
PROM1
(S762G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PROM1
(P770H +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 12
+5 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(intron variant)
Stargardt disease 4
+3 more
GUncertain significance
PROM1
(V827A +1 more)
Single nucleotide variant
(missense variant)
Retinal macular dystrophy type 2
+4 more
GUncertain significance
PROM1
(M836I +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
(V851I +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+5 more
GConflicting classifications of pathogenicity
PROM1
(T860A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 12
+4 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+4 more
GBenign
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
PROM1
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
+3 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination