Related gene-specific medical variations for Gene (Select 11315) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684286	NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr)	PARK7 (C106Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256194	NM_007262.5(PARK7):c.505G>T (p.Val169Phe)	PARK7 (V169F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804432	NM_007262.5(PARK7):c.90+1dup	PARK7	Duplication (splice donor variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely pathogenic
Select item 623671	NM_007262.5(PARK7):c.189dup (p.Glu64fs)	PARK7 (E64fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 487089	NM_007262.5(PARK7):c.487G>A (p.Glu163Lys)	PARK7 (E163K)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

ClinVar