Related gene-specific medical variations for Gene (Select 283208) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593729	NM_182904.5(P4HA3):c.44C>T (p.Ala15Val)	P4HA3, P4HA3-AS1 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524576	NM_182904.5(P4HA3):c.179C>G (p.Ala60Gly)	P4HA3, P4HA3-AS1 (A60G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514667	NM_016147.3(PPME1):c.1091C>G (p.Ala364Gly)	P4HA3, PPME1 (A378G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410611	NM_182904.5(P4HA3):c.98C>T (p.Ala33Val)	P4HA3, P4HA3-AS1 (A33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358164	NM_016147.3(PPME1):c.1144G>A (p.Val382Met)	P4HA3, PPME1 (V382M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280745	NM_182904.5(P4HA3):c.167G>T (p.Arg56Leu)	P4HA3, P4HA3-AS1 (R56L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2274357	NM_016147.3(PPME1):c.1150C>T (p.Pro384Ser)	P4HA3, PPME1 (P384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar