"Eurofins Ntd Llc (ga)"[submitter] AND "PINK1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291205	NM_032409.3(PINK1):c.31C>A (p.Leu11Met)	PINK1 (L11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262026	NM_032409.3(PINK1):c.189C>T (p.Leu63=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 283173	NM_032409.3(PINK1):c.417G>T (p.Gly139=)	PINK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286781	NM_032409.3(PINK1):c.434C>T (p.Thr145Met)	PINK1 (T145M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289332	NM_032409.3(PINK1):c.858G>A (p.Pro286=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288962	NM_032409.3(PINK1):c.1251+10G>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 286390	NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)	PINK1, PINK1-AS (E476K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GBenign
Select item 295006	NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)	DDOST, PINK1 +1 more (N521T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign/Likely benign