U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056226, SPATA7
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC130056226, SPATA7
(D2N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
+3 more
GConflicting classifications of pathogenicity
SPATA7
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination