C4225257[trait identifier] AND "Institute for Medical Genetics and Hum - 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 1706537	NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)	SLC12A5 (P209L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 1706538	NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)	SLC12A5 (Q673* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 34	GPathogenic