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
IGSF1
(R1184* +2 more)
Single nucleotide variant
(nonsense)
X-linked central congenital hypothyroidism with late-onset testicular enlargement
+1 more
GPathogenic
STK26, TFDP3
+9 more
Copy number loss
Nystagmus 1, congenital, X-linked
+1 more
GPathogenic