Related gene-specific medical variations for Gene (Select 51400) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2274357	NM_016147.3(PPME1):c.1150C>T (p.Pro384Ser)	P4HA3, PPME1 (P384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

Format

Sort by

Choose Destination

ClinVar