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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
(I17T)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(P25L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(A26V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
(M32K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(S39N)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
(R52*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 13
+2 more
GPathogenic
RPGRIP1
(R54H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(V90I)
Single nucleotide variant
(missense variant)
Cone dystrophy
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(G126R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+3 more
GUncertain significance
RPGRIP1
(H129L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+1 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
(A181G)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(K192E)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+3 more
GBenign
RPGRIP1
(M220V)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(H225fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 6
+2 more
GPathogenic/Likely pathogenic
RPGRIP1
(A263S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(splice donor variant)
Cone-rod dystrophy 13
+3 more
GPathogenic/Likely pathogenic
RPGRIP1
(I270V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(G313E)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
(L323P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RPGRIP1
(L353F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+3 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 6
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(E370fs)
Deletion
(frameshift variant)
Cone-rod dystrophy 13
+2 more
GPathogenic
RPGRIP1
(D5N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
RPGRIP1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 13
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(P585S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(R598* +1 more)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis
+4 more
GPathogenic/Likely pathogenic
RPGRIP1
(H273R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GPathogenic
RPGRIP1
(A635G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(A641T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
RPGRIP1
(Y659C +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
(S688L +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
(H692R +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 6
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(A764V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 13
+1 more
GUncertain significance
RPGRIP1
(R768* +1 more)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis 6
+4 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Cone-rod dystrophy 13
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(R812Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(R814* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cone-rod dystrophy 13
+2 more
GPathogenic
RPGRIP1
(R456L +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
(A824fs +1 more)
Duplication
(frameshift variant +1 more)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
RPGRIP1
(A479G +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Cone-rod dystrophy 13
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(R852* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
RPGRIP1
(R852Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 13
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(P524S +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(R888* +1 more)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis 6
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(R530Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
(A889T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
RPGRIP1
(N907* +4 more)
Duplication
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
RPGRIP1
(W925* +4 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 6
+3 more
GPathogenic
RPGRIP1
(A960P +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(R981* +4 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 6
+3 more
GPathogenic
RPGRIP1
(L1022F +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+1 more
GUncertain significance
RPGRIP1
(E1033Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RPGRIP1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 6
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(P1074R +5 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 6
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
(I1120V +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+3 more
GUncertain significance
RPGRIP1
(A1126V +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RPGRIP1
(F1148L +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+1 more
GUncertain significance
RPGRIP1
(D1150Y +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(E1169Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RPGRIP1
(R1189* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
RPGRIP1
(R832S +4 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+1 more
GUncertain significance
RPGRIP1
(R553W +4 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+1 more
GConflicting classifications of pathogenicity
RPGRIP1
Deletion
(splice acceptor variant)
Cone-rod dystrophy 13
+2 more
GPathogenic/Likely pathogenic
RPGRIP1
Single nucleotide variant
(splice acceptor variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(V1272I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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