"Invitae"[submitter] AND "LOC130007527"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2777094	NM_024854.5(PYROXD1):c.12G>A (p.Ala4=)	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1379899	NM_024854.5(PYROXD1):c.23del (p.Pro8fs)	LOC130007527, PYROXD1 (P8fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1409544	NM_024854.5(PYROXD1):c.22C>G (p.Pro8Ala)	LOC130007527, PYROXD1 (P8A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1473229	NM_024854.5(PYROXD1):c.40G>T (p.Val14Leu)	LOC130007527, PYROXD1 (V14L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1976363	NM_024854.5(PYROXD1):c.52G>A (p.Gly18Ser)	LOC130007527, PYROXD1 (G18S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1555474	NM_024854.5(PYROXD1):c.66C>T (p.Gly22=)	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1421502	NM_024854.5(PYROXD1):c.68T>A (p.Val23Asp)	LOC130007527, PYROXD1 (V23D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

ClinVar