"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PINK1-AS"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374600	NM_032409.3(PINK1):c.802C>G (p.Leu268Val)	PINK1-AS, PINK1 (L268V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 873989	NM_032409.3(PINK1):c.835C>T (p.Arg279Cys)	PINK1, PINK1-AS (R279C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 447941	NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr)	PINK1, PINK1-AS (S284Y)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 1308797	NM_032409.3(PINK1):c.857C>T (p.Pro286Leu)	PINK1, PINK1-AS (P286L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 618793	NM_032409.3(PINK1):c.865C>A (p.Pro289Thr)	PINK1, PINK1-AS (P289T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 1303069	NM_032409.3(PINK1):c.949G>A (p.Val317Ile)	PINK1, PINK1-AS (V317I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 447942	NM_032409.3(PINK1):c.952A>T (p.Met318Leu)	PINK1, PINK1-AS (M318L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1370933	NM_032409.3(PINK1):c.959+4A>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1382632	NM_032409.3(PINK1):c.1123+4G>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 534248	NM_032409.3(PINK1):c.1173T>C (p.Asp391=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 967822	NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln)	PINK1, PINK1-AS (R407Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 295005	NM_032409.3(PINK1):c.1251+5G>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
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)	not specified +3 more	GBenign/Likely benign
Select item 431963	NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter)	PINK1, PINK1-AS (R492*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 534247	NM_032409.3(PINK1):c.1488G>A (p.Lys496=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1609977	NM_032409.3(PINK1):c.1488+17C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 703805	NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln)	PINK1, PINK1-AS (R501Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GBenign/Likely benign
Select item 1011956	NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn)	PINK1, PINK1-AS (D525N)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance