"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PINK1-AS"[gene - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379470	NM_032409.3(PINK1):c.839C>A (p.Ala280Asp)	PINK1, PINK1-AS (A280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447942	NM_032409.3(PINK1):c.952A>T (p.Met318Leu)	PINK1, PINK1-AS (M318L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 500148	NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)	PINK1, PINK1-AS (A339T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 2408	NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)	PINK1, PINK1-AS (L347P)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GPathogenic
Select item 662914	NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn)	PINK1, PINK1-AS (D366N)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 2042262	NM_032409.3(PINK1):c.1265G>A (p.Arg422His)	PINK1, PINK1-AS (R422H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 2415	NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)	PINK1, PINK1-AS (Q456*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GPathogenic
Select item 994660	NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg)	PINK1, PINK1-AS (L461R)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 1507469	NM_032409.3(PINK1):c.1544A>G (p.His515Arg)	PINK1, PINK1-AS (H515R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance