U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIPL1
(P376S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
AIPL1
(R302L +6 more)
Single nucleotide variant
(missense variant +1 more)
AIPL1-related condition
+4 more
GConflicting classifications of pathogenicity
AIPL1
(W278* +6 more)
Single nucleotide variant
(nonsense +1 more)
AIPL1-Related Disorders
+5 more
GPathogenic
AIPL1
(G262S +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AIPL1
(C239R +7 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 4
GPathogenic
AIPL1
(I206N +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
AIPL1
(A197P +6 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 4
GPathogenic
Format
Items per page
Sort by
Choose Destination