U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAPSN
(L283P)
Single nucleotide variant
(missense variant +1 more)
Fetal akinesia deformation sequence 1
+5 more
GConflicting classifications of pathogenicity
RAPSN
(E147K)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
+4 more
GPathogenic/Likely pathogenic
RAPSN
(E94K)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 2
+5 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination