"Counsyl"[submitter] AND "VPS53"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551839	NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)	VPS53 (Q783*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2E	GUncertain significance
Select item 557943	NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter)	VPS53 (R506* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 2E	GLikely pathogenic
Select item 554119	NM_001128159.3(VPS53):c.1312_1313+2del	VPS53	Deletion (splice donor variant)	Pontoneocerebellar hypoplasia +2 more	GLikely pathogenic

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