C5436628[trait identifier] AND "Equipe Genetique des Anomalies du Deve - 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 982398	NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)	HPDL (A116fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic
Select item 982397	NM_032756.4(HPDL):c.788C>T (p.Thr263Met)	HPDL (T263M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	GLikely pathogenic