C1853445[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446717	NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]	PARK7 (E163K)	Duplication (intron variant +1 more)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7065	NM_007262.5(PARK7):c.78G>A (p.Met26Ile)	PARK7 (M26I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7067	NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)	PARK7 (E64D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7066	NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)	PARK7 (D149A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GLikely benign
Select item 7064	NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)	PARK7 (L166P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GPathogenic
Select item 7063	nsv513788	PARK7	Deletion	Autosomal recessive early-onset Parkinson disease 7	GPathogenic

ClinVar