U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPNPEP3
(S216fs)
Deletion
(frameshift variant)
Nephronophthisis-like nephropathy 1
GLikely pathogenic
XPNPEP3
(W347*)
Single nucleotide variant
(nonsense)
Nephronophthisis-like nephropathy 1
GPathogenic