Related gene-specific medical variations for Gene (Select 100129722) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659816	NM_001004353.4(STPG3):c.*26C>A	CIMIP2A, STPG3 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2261888	NM_001004353.4(STPG3):c.448G>A (p.Glu150Lys)	CIMIP2A, STPG3 +1 more (E150K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248722	NM_001004353.4(STPG3):c.832G>C (p.Asp278His)	CIMIP2A, STPG3 +1 more (D223H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204269	NM_001004353.4(STPG3):c.236T>C (p.Leu79Pro)	CIMIP2A, STPG3 +1 more (L79P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 774890	NM_001004353.4(STPG3):c.376A>G (p.Ser126Gly)	CIMIP2A, STPG3 +1 more (S126G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732859	NM_001004353.4(STPG3):c.129_157del	CIMIP2A, STPG3 +1 more (H303fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GBenign

ClinVar