PRKN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	LOC113174973, LOC116183078 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	LOC129997712, LOC129997713 +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	LOC129997709, LOC129997710 +297 more	Copy number loss	See cases	GPathogenic
Select item 155288	GRCh38/hg38 6q26(chr6:160892889-161535434)x3	AGPAT4, AGPAT4-IT1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 146608	GRCh38/hg38 6q26(chr6:161232208-161348695)x3	AGPAT4, LOC121132713 +3 more	Copy number gain	See cases	GBenign
Select item 59548	GRCh38/hg38 6q26(chr6:161289959-162789916)x3	LOC105378098, LOC121132714 +13 more	Copy number gain	See cases	GUncertain significance
Select item 417462	NC_000006.11:g.(?_161768590)_(162475206_?)dup	LOC129389718, LOC129997634 +7 more	Duplication	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355979	NM_004562.3(PRKN):c.*2524CA[1]	PRKN	Microsatellite (3 prime UTR variant)	Juvenile-onset Parkinson disease	GUncertain significance
Select item 905585	NM_004562.3(PRKN):c.*2518A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355980	NM_004562.3(PRKN):c.*2492A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 905586	NM_004562.3(PRKN):c.*2488A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 905587	NM_004562.3(PRKN):c.*2486C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355981	NM_004562.3(PRKN):c.*2480C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 355982	NM_004562.3(PRKN):c.*2475A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355983	NM_004562.3(PRKN):c.*2474A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906093	NM_004562.3(PRKN):c.*2451G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355984	NM_004562.3(PRKN):c.*2443A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355985	NM_004562.3(PRKN):c.*2363C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Juvenile-onset Parkinson disease	GUncertain significance
Select item 355986	NM_004562.3(PRKN):c.*2354C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 906094	NM_004562.3(PRKN):c.*2259T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906095	NM_004562.3(PRKN):c.*2232G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355987	NM_004562.3(PRKN):c.*2217G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 906096	NM_004562.3(PRKN):c.*2214C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355988	NM_004562.3(PRKN):c.*2194G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907098	NM_004562.3(PRKN):c.*2192G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907099	NM_004562.3(PRKN):c.*2187C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 355989	NM_004562.3(PRKN):c.*2022T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355990	NM_004562.3(PRKN):c.*2021G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 907100	NM_004562.3(PRKN):c.*1997G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907101	NM_004562.3(PRKN):c.*1909G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 355991	NM_004562.3(PRKN):c.*1695G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 355992	NM_004562.3(PRKN):c.*1694C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355993	NM_004562.3(PRKN):c.*1685A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355994	NM_004562.3(PRKN):c.*1601G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 903734	NM_004562.3(PRKN):c.*1576C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 903735	NM_004562.3(PRKN):c.*1550A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 903736	NM_004562.3(PRKN):c.*1500C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355995	NM_004562.3(PRKN):c.*1470G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355996	NM_004562.3(PRKN):c.*1462C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 903737	NM_004562.3(PRKN):c.*1407C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 355997	NM_004562.3(PRKN):c.*1386A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 905651	NM_004562.3(PRKN):c.*1383T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 355998	NM_004562.3(PRKN):c.*1296A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 355999	NM_004562.3(PRKN):c.*1281C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356000	NM_004562.3(PRKN):c.*1252C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely benign
Select item 905652	NM_004562.3(PRKN):c.*1243C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 905653	NM_004562.3(PRKN):c.*1158T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356001	NM_004562.3(PRKN):c.*1156C>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906162	NM_004562.3(PRKN):c.*1102C>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356002	NM_004562.3(PRKN):c.*1024TC[2]	PRKN	Microsatellite (3 prime UTR variant)	Juvenile-onset Parkinson disease	GUncertain significance
Select item 356003	NM_004562.3(PRKN):c.*1016C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356004	NM_004562.3(PRKN):c.887_890del	PRKN	Deletion (3 prime UTR variant)	Juvenile-onset Parkinson disease	GUncertain significance
Select item 356005	NM_004562.3(PRKN):c.*820A>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 906163	NM_004562.3(PRKN):c.*722G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356006	NM_004562.3(PRKN):c.*652C>T	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GBenign
Select item 906164	NM_004562.3(PRKN):c.*623T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356007	NM_004562.3(PRKN):c.*472T>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906165	NM_004562.3(PRKN):c.*433C>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356008	NM_004562.3(PRKN):c.*372C>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907163	NM_004562.3(PRKN):c.*320C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign
Select item 356009	NM_004562.3(PRKN):c.*314C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356010	NM_004562.3(PRKN):c.*301G>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Lung cancer +2 more	GUncertain significance
Select item 907165	NM_004562.3(PRKN):c.*121A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 356011	NM_004562.3(PRKN):c.*108AC[5]	PRKN	Microsatellite (3 prime UTR variant)	Juvenile-onset Parkinson disease +1 more	GConflicting classifications of pathogenicity
Select item 1220036	NM_004562.3(PRKN):c.*96GC[7]	PRKN	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 907166	NM_004562.3(PRKN):c.*106G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356012	NM_004562.3(PRKN):c.*98G>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 903814	NM_004562.3(PRKN):c.*94A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 903815	NM_004562.3(PRKN):c.*60C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356013	NM_004562.3(PRKN):c.*15C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1474033	NM_004562.3(PRKN):c.1392C>T (p.Asp464=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810037	NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)	PRKN (M309L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 903816	NM_004562.3(PRKN):c.1366G>A (p.Val456Ile)	PRKN (V456I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GUncertain significance
Select item 356014	NM_004562.3(PRKN):c.1364G>A (p.Arg455His)	PRKN (R455H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191539	NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)	PRKN (W453* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 7042	NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)	PRKN (W453* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1972564	NM_004562.3(PRKN):c.1352del (p.Cys451fs)	PRKN (C302fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1972679	NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)	PRKN (C446W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459191	NM_004562.3(PRKN):c.1334G>A (p.Trp445Ter)	PRKN (W296* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 468585	NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln)	PRKN (E444Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913067	NM_004562.3(PRKN):c.1329C>T (p.Leu443=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 963190	NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)	PRKN (C292R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 2657121	NM_004562.3(PRKN):c.1317C>A (p.Pro439=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 283504	NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)	PRKN (P437L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 1806872	NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)	PRKN (P288A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030818	NM_004562.3(PRKN):c.1302G>A (p.Met434Ile)	PRKN (M406I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 810783	NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)	PRKN (M285T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely pathogenic
Select item 50354	NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)	PRKN (C431F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic

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