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
NSD1
(W1280* +4 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
+19 more
GPathogenic
FGF14
(R116fs +8 more)
Duplication
(frameshift variant)
Cryptorchidism
+17 more
GLikely pathogenic