ClinVar for MedGen (Select 442807) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12897	NM_001165963.4(SCN1A):c.603-91G>A	SCN1A	Single nucleotide variant (intron variant)	carbamazepine response - Dosage	Gdrug response
Select item 12896	NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	SCN1A (M145T)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +4 more	GPathogenic