U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
(M32K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 6
+2 more
GConflicting classifications of pathogenicity
RPGRIP1
Microsatellite
(intron variant)
Cone-rod dystrophy 13
+3 more
GBenign
RPGRIP1
(A547S +2 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+4 more
GBenign/Likely benign
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
Cone-rod dystrophy 13
+1 more
GBenign
RPGRIP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
RPGRIP1
(D1114G +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination