Related gene-specific medical variations for Gene (Select 51645) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024893	NM_016059.5(PPIL1):c.15C>A (p.Pro5=)	C6orf89, PPIL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2458834	NM_016059.5(PPIL1):c.10A>G (p.Ile4Val)	C6orf89, PPIL1 (I4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701722	NM_016059.5(PPIL1):c.316G>A (p.Asp106Asn)	PPIL1 (D106N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 14	GUncertain significance
Select item 1344824	NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser)	PPIL1 (F82S)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344823	NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys)	PPIL1 (G109C)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344822	NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup)	PPIL1	Duplication (inframe_insertion)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344821	NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln)	PPIL1 (R131Q)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344820	NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys)	PPIL1 (Y78C)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic

ClinVar