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
AXDND1, NPHS2
(A317fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
AXDND1, NPHS2
(V290M +1 more)
Single nucleotide variant
(missense variant +1 more)
NPHS2-related disorder
+2 more
GPathogenic/Likely pathogenic
NPHS2
(A242V)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+3 more
GConflicting classifications of pathogenicity
NPHS2
(P20L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination