U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP1
(Y397H)
Single nucleotide variant
(missense variant)
Night blindness
+4 more
GLikely pathogenic
CERKL
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
+4 more
GPathogenic/Likely pathogenic
LOC126860392, RP1
(A1792G)
Single nucleotide variant
(missense variant)
Retinal pigment epithelial atrophy
+3 more
GUncertain significance
Retinitis pigmentosa 26
GPathogenic
CERKL
(R257* +2 more)
Single nucleotide variant
(nonsense +2 more)
Cone-rod dystrophy
+8 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(synonymous variant)
Rare genetic deafness
+10 more
GPathogenic
Format
Items per page
Sort by
Choose Destination