U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSL1
(W1114*)
Single nucleotide variant
(nonsense)
Coarctation of aorta
+12 more
GUncertain significance
OBSL1
(R994C)
Single nucleotide variant
(missense variant)
Coarctation of aorta
+12 more
GUncertain significance
RYR1
(E2764K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
Format
Sort by
Choose Destination