"Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873315	NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)	PLEKHG5 (P630H +3 more)	Single nucleotide variant (missense variant)	Juvenile amyotrophic lateral sclerosis	GLikely pathogenic
Select item 873314	NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)	PLEKHG5 (Q550* +3 more)	Single nucleotide variant (nonsense)	Juvenile amyotrophic lateral sclerosis	GPathogenic