"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "PLEKHG2"[g - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584971	NM_022835.3(PLEKHG2):c.1270C>T (p.Gln424Ter)	PLEKHG2 (Q424* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy and acquired microcephaly with or without dystonia;	GLikely pathogenic
Select item 2516466	NM_022835.3(PLEKHG2):c.1570C>G (p.Pro524Ala)	PLEKHG2 (P465A +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +1 more	GUncertain significance