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
CLCN1
(F343L)
Single nucleotide variant
(missense variant +1 more)
EMG: myotonic discharges
+1 more
GLikely pathogenic
SCN4A
(V445L)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+6 more
GConflicting classifications of pathogenicity
CLCN1
(G190S)
Indel
(missense variant +1 more)
Rigidity
+8 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination