Related gene-specific medical variations for Gene (Select 5827) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150117	NM_018663.3(PXMP2):c.100G>A (p.Val34Met)	LOC130009266, PXMP2 (V34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643655	NM_018663.3(PXMP2):c.39G>C (p.Gly13=)	LOC130009266, PXMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519113	NM_018663.3(PXMP2):c.28G>T (p.Ala10Ser)	LOC130009266, PXMP2 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324854	NM_018663.3(PXMP2):c.77T>C (p.Leu26Pro)	LOC130009266, PXMP2 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236128	NM_018663.3(PXMP2):c.98C>T (p.Pro33Leu)	LOC130009266, PXMP2 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1181025	NM_018663.3(PXMP2):c.8C>T (p.Pro3Leu)	LOC130009266, POLE +1 more (P3L)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar