Related gene-specific medical variations for Gene (Select 84795) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311904	NM_032709.3(PYROXD2):c.124G>T (p.Ala42Ser)	HPS1, PYROXD2 (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150256	NM_032709.3(PYROXD2):c.716C>T (p.Pro239Leu)	MIR1287, PYROXD2 (P239L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150255	NM_032709.3(PYROXD2):c.65G>A (p.Arg22Gln)	HPS1, PYROXD2 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150247	NM_032709.3(PYROXD2):c.124G>C (p.Ala42Pro)	HPS1, PYROXD2 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558696	NM_032709.3(PYROXD2):c.720A>C (p.Leu240Phe)	MIR1287, PYROXD2 (L240F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2491064	NM_032709.3(PYROXD2):c.714G>T (p.Glu238Asp)	MIR1287, PYROXD2 (E238D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463407	NM_032709.3(PYROXD2):c.112G>A (p.Val38Met)	HPS1, PYROXD2 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457473	NM_032709.3(PYROXD2):c.14G>C (p.Gly5Ala)	HPS1, PYROXD2 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar