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
NPHS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS1
(L643P)
Single nucleotide variant
(missense variant)
Congenital nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
NPHS1
(P167L)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+3 more
GLikely pathogenic
NPHS1
Deletion
Congenital nephrotic syndrome
GLikely pathogenic
Format
Sort by
Choose Destination