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
CHD4
(R1376S +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GUncertain significance
ACRBP, ACSM4
+106 more
Copy number gain
Small hand
+6 more
GPathogenic