"Athena Diagnostics Inc"[submitter] AND "PTCHD1-AS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805126	NM_000444.6(PHEX):c.1768+5G>A	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 256167	NM_000444.6(PHEX):c.1769-10C>T	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GBenign
Select item 280079	NM_000444.6(PHEX):c.1843dup (p.Thr615fs)	PHEX, PTCHD1-AS (T615fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 447937	NM_000444.6(PHEX):c.1899+1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1037395	NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile)	PHEX, PTCHD1-AS (F654I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 986956	NM_000444.6(PHEX):c.2071-2A>G	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 279872	NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)	PHEX, PTCHD1-AS (R702*)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 279873	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX, PTCHD1-AS (R747*)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar