C0205711[trait identifier] AND "Mendelics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804067	NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)	PLP1, RAB9B (Q44* +1 more)	Single nucleotide variant (nonsense)	Pelizaeus-Merzbacher disease	GPathogenic
Select item 804068	NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)	PLP1, RAB9B (C184Y +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GLikely pathogenic
Select item 1686084	NM_000533.5(PLP1):c.665C>G (p.Ser222Cys)	PLP1, RAB9B (S167C +2 more)	Single nucleotide variant (missense variant)	Pelizaeus-Merzbacher disease	GPathogenic

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