"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 850298	NM_000288.4(PEX7):c.128C>T (p.Ala43Val)	PEX7 (A43V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1702473	NM_000288.4(PEX7):c.236A>G (p.Asn79Ser)	PEX7 (N79S)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 370682	NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	PEX7 (Q93*)	Single nucleotide variant (nonsense)	Connective tissue disorder +3 more	GPathogenic/Likely pathogenic
Select item 255746	NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	PEX7 (Q126P)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +5 more	GBenign/Likely benign
Select item 198710	NM_000288.4(PEX7):c.748-5dup	PEX7	Duplication (intron variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign
Select item 355537	NM_000288.4(PEX7):c.961A>G (p.Ile321Val)	PEX7 (I321V)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance

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