"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "GH-LC - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1007765	NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)	GH-LCR, SCN4A (R1740W)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 2664731	NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)	GH-LCR, SCN4A (G1245S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16	GLikely pathogenic