PINK1-AS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 429877	NM_032409.3(PINK1):c.502G>C (p.Ala168Pro)	PINK1, PINK1-AS +1 more (A168P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GPathogenic/Likely pathogenic
Select item 2332811	NM_032409.3(PINK1):c.786G>C (p.Lys262Asn)	PINK1, PINK1-AS (K262N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984111	NM_032409.3(PINK1):c.788G>A (p.Arg263Lys)	PINK1, PINK1-AS (R263K)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 183259	NM_032409.3(PINK1):c.799C>T (p.Gln267Ter)	PINK1, PINK1-AS (Q267*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	Gnot provided
Select item 374600	NM_032409.3(PINK1):c.802C>G (p.Leu268Val)	PINK1-AS, PINK1 (L268V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465846	NM_032409.3(PINK1):c.804A>G (p.Leu268=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GBenign
Select item 1475039	NM_032409.3(PINK1):c.805G>A (p.Ala269Thr)	PINK1, PINK1-AS (A269T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3213107	NM_032409.3(PINK1):c.806C>T (p.Ala269Val)	PINK1, PINK1-AS (A269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876799	NM_032409.3(PINK1):c.813C>T (p.His271=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2405	NM_032409.3(PINK1):c.813C>A (p.His271Gln)	PINK1, PINK1-AS (H271Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2502602	NM_032409.3(PINK1):c.823A>G (p.Ile275Val)	PINK1, PINK1-AS (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 295001	NM_032409.3(PINK1):c.826C>T (p.Arg276Trp)	PINK1, PINK1-AS (R276W)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 787365	NM_032409.3(PINK1):c.827G>A (p.Arg276Gln)	PINK1, PINK1-AS (R276Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
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 2411	NM_032409.3(PINK1):c.836G>A (p.Arg279His)	PINK1, PINK1-AS (R279H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075371	NM_032409.3(PINK1):c.837C>T (p.Arg279=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1017772	NM_032409.3(PINK1):c.838G>A (p.Ala280Thr)	PINK1, PINK1-AS (A280T)	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 712196	NM_032409.3(PINK1):c.852C>T (p.Ser284=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1983019	NM_032409.3(PINK1):c.853G>A (p.Val285Met)	PINK1, PINK1-AS (V285M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	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 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 1922868	NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr)	PINK1, PINK1-AS (P289T)	Indel (missense variant)	Autosomal recessive early-onset Parkinson disease 6	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 873990	NM_032409.3(PINK1):c.887C>T (p.Pro296Leu)	PINK1-AS, PINK1 (P296L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1699183	NM_032409.3(PINK1):c.898C>T (p.Pro300Ser)	PINK1, PINK1-AS (P300S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1479260	NM_032409.3(PINK1):c.902C>T (p.Ser301Leu)	PINK1, PINK1-AS (S301L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1307790	NM_032409.3(PINK1):c.905G>A (p.Arg302His)	PINK1, PINK1-AS (R302H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2135841	NM_032409.3(PINK1):c.913C>G (p.Pro305Ala)	PINK1, PINK1-AS (P305A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1313415	NM_032409.3(PINK1):c.915T>A (p.Pro305=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 96729	NM_032409.3(PINK1):c.923T>A (p.Leu308Gln)	PINK1, PINK1-AS (L308Q)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2404	NM_032409.3(PINK1):c.926G>A (p.Gly309Asp)	PINK1, PINK1-AS (G309D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 465847	NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)	PINK1, PINK1-AS (R312Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 295002	NM_032409.3(PINK1):c.936G>A (p.Arg312=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2413	NM_032409.3(PINK1):c.938C>T (p.Thr313Met)	PINK1, PINK1-AS (T313M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic/Likely pathogenic
Select item 725174	NM_032409.3(PINK1):c.939G>A (p.Thr313=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150377	NM_032409.3(PINK1):c.942G>A (p.Leu314=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2663836	NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)	PINK1, PINK1-AS (F315L)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 703838	NM_032409.3(PINK1):c.948C>T (p.Leu316=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GBenign
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 specified +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 1207775	NM_032409.3(PINK1):c.959+72G>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222998	NM_032409.3(PINK1):c.959+299C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239004	NM_032409.3(PINK1):c.960-178G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248372	NM_032409.3(PINK1):c.960-142G>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260383	NM_032409.3(PINK1):c.960-58_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1255183	NM_032409.3(PINK1):c.960-57_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1250232	NM_032409.3(PINK1):c.960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1186162	NM_032409.3(PINK1):c.960-59_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GLikely benign
Select item 1281814	NM_032409.3(PINK1):c.960-56del	PINK1, PINK1-AS	Deletion (intron variant)	not provided	GBenign
Select item 1264944	NM_032409.3(PINK1):c.960-55C>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252464	NM_032409.3(PINK1):c.960-54G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625504	NM_032409.3(PINK1):c.960-18del	PINK1, PINK1-AS	Deletion (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1583410	NM_032409.3(PINK1):c.960-17T>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1642137	NM_032409.3(PINK1):c.960-13C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1537675	NM_032409.3(PINK1):c.960-12C>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 873991	NM_032409.3(PINK1):c.960-11C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 295003	NM_032409.3(PINK1):c.960-11C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2103886	NM_032409.3(PINK1):c.960-8T>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 262028	NM_032409.3(PINK1):c.960-5G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2720339	NM_032409.3(PINK1):c.960-4C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2628394	NM_032409.3(PINK1):c.960-2A>G	PINK1, PINK1-AS	Single nucleotide variant (splice acceptor variant)	PINK1-related disorder	GLikely pathogenic
Select item 652873	NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys)	PINK1, PINK1-AS (Y321C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2713011	NM_032409.3(PINK1):c.966C>G (p.Pro322=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1403093	NM_032409.3(PINK1):c.968G>A (p.Cys323Tyr)	PINK1, PINK1-AS (C323Y)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2283782	NM_032409.3(PINK1):c.998C>T (p.Thr333Ile)	PINK1, PINK1-AS (T333I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 874926	NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly)	PINK1, PINK1-AS (S335G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3213100	NM_032409.3(PINK1):c.1006C>G (p.Pro336Ala)	PINK1, PINK1-AS (P336A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1517107	NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys)	PINK1, PINK1-AS (R337C)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 432830	NM_032409.3(PINK1):c.1010G>A (p.Arg337His)	PINK1, PINK1-AS (R337H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1653728	NM_032409.3(PINK1):c.1011C>T (p.Arg337=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 500148	NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)	PINK1-AS, PINK1 (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 1572154	NM_032409.3(PINK1):c.1017C>T (p.Ala339=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 295004	NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)	PINK1, PINK1-AS (A340T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GBenign
Select item 1139313	NM_032409.3(PINK1):c.1023G>A (p.Met341Ile)	PINK1, PINK1-AS (M341I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1446048	NM_032409.3(PINK1):c.1024A>G (p.Met342Val)	PINK1, PINK1-AS (M342V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1310405	NM_032409.3(PINK1):c.1024A>C (p.Met342Leu)	PINK1-AS, PINK1 (M342L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1587244	NM_032409.3(PINK1):c.1047C>A (p.Gly349=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 859181	NM_032409.3(PINK1):c.1065A>G (p.Gln355=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874927	NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)	PINK1, PINK1-AS (A359T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 704989	NM_032409.3(PINK1):c.1077G>A (p.Ala359=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 874928	NM_032409.3(PINK1):c.1095C>T (p.Ser365=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 662914	NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn)	PINK1, PINK1-AS (D366N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627455	NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp)	PINK1, PINK1-AS (N367D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2241088	NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr)	PINK1, PINK1-AS (N367Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1962723	NM_032409.3(PINK1):c.1099A>C (p.Asn367His)	PINK1, PINK1-AS (N367H)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2157524	NM_032409.3(PINK1):c.1107T>C (p.Leu369=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 805132	NM_032409.3(PINK1):c.1108G>A (p.Val370Met)	PINK1, PINK1-AS (V370M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395782	NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg)	PINK1, PINK1-AS (P374R)	Single nucleotide variant (missense 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 2193046	NM_032409.3(PINK1):c.1123+11G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2143189	NM_032409.3(PINK1):c.1123+12C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1927619	NM_032409.3(PINK1):c.1123+15C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign

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