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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
(P25L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(M32K)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(R43P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1
(R52*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
RPGRIP1
(R54H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPGRIP1
(R86W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+3 more
GBenign/Likely benign
RPGRIP1
(G126R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
RPGRIP1
(A181G)
Single nucleotide variant
(missense variant)
RPGRIP1-related condition
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(I270V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
RPGRIP1
Microsatellite
(intron variant)
Cone-rod dystrophy 13
+3 more
GBenign
RPGRIP1
(L323P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic
RPGRIP1
(R530C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPGRIP1
(A547S +2 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+4 more
GBenign/Likely benign
RPGRIP1
(P585S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
(Q589H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 13
+3 more
GBenign/Likely benign
RPGRIP1
(R598Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 1
+4 more
GBenign/Likely benign
RPGRIP1
(A635G +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 6
+3 more
GUncertain significance
RPGRIP1
(H692R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
RPGRIP1
(L725V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 6
+4 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(T806I +1 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 1
+3 more
GBenign/Likely benign
RPGRIP1
(D835G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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)
not specified
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
RPGRIP1
(R867W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GLikely benign
RPGRIP1
(A889T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 13
+2 more
GUncertain significance
RPGRIP1
(W925* +4 more)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 13
+3 more
GPathogenic
RPGRIP1
(E1033Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
RPGRIP1
(D1114G +4 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+3 more
GBenign/Likely benign
RPGRIP1
(A1126V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 13
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
(E1169Q +4 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 13
+3 more
GUncertain significance
RPGRIP1
(P1215L +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPGRIP1
(L1216P +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1
(D1217N +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPGRIP1
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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