U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF513
(A32fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 58
GLikely pathogenic
LOC129933377, ZNF513
Single nucleotide variant
(5 prime UTR variant)
Retinitis pigmentosa 58
GUncertain significance
ZNF513
(V261M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZNF513
(C339R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
Format
Sort by
Choose Destination