C0034960[trait identifier] AND "Counsyl"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 553790	NM_000288.4(PEX7):c.904-1G>A	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GUncertain significance
Select item 7580	NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	PHYH (R275W +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 198539	NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	PHYH (R245Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 198192	NM_006214.4(PHYH):c.678+5G>T	PHYH	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 556208	NM_006214.4(PHYH):c.621_623del (p.Val208del)	PHYH (V208del +3 more)	Deletion (inframe_deletion +1 more)	Phytanic acid storage disease +1 more	GUncertain significance
Select item 558590	NM_006214.4(PHYH):c.414+2T>C	PHYH	Single nucleotide variant (splice donor variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 555188	NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup)	LOC130003374, PHYH	Duplication (inframe_insertion +1 more)	Phytanic acid storage disease	GUncertain significance

ClinVar