PRKN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	PRKN-related disorder +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 3218869	NM_004562.3(PRKN):c.1384T>C (p.Trp462Arg)	PRKN (W313R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3218868	NM_004562.3(PRKN):c.1352G>C (p.Cys451Ser)	PRKN (C423S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +2 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 3218867	NM_004562.3(PRKN):c.1300A>G (p.Met434Val)	PRKN (M434V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 1457050	NM_004562.3(PRKN):c.1290C>T (p.Gly430=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 356016	NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	PRKN (G430D +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1120007	NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)	PRKN (G281S +2 more)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +1 more	GConflicting classifications of pathogenicity
Select item 1924653	NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)	PRKN (G401E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136491	NM_004562.3(PRKN):c.1286-3C>G	PRKN	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1509839	NM_004562.3(PRKN):c.1286-4A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1272489	NM_004562.3(PRKN):c.1286-118A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257040	NM_004562.3(PRKN):c.1286-169A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205204	NM_004562.3(PRKN):c.1286-237C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893684	NM_004562.3(PRKN):c.1269A>G (p.Val423=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841923	NM_004562.3(PRKN):c.1259G>A (p.Arg420His)	PRKN (R392H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488446	NM_004562.3(PRKN):c.1252T>C (p.Cys418Arg)	PRKN (C418R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2963047	NM_004562.3(PRKN):c.1251C>T (p.Pro417=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586380	NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn)	PRKN (T415N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2190490	NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)	PRKN (A378T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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