"PEX6-related disorder"[Disease/phenotype] AND "Rady Children's Instit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984940	NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)	PEX6 (R772Q +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GLikely pathogenic
Select item 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	PEX6-related disorder +7 more	GConflicting classifications of pathogenicity