ClinVar for MedGen (Select 401500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435249	NM_004562.3(PRKN):c.44T>C (p.Val15Ala)	PRKN (V15A)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 2068913	NM_004562.3(PRKN):c.172-18del	PRKN	Deletion (intron variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign
Select item 1805773	NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)	LOC126859871, PRKN (R163K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 1705255	NC_000006.11:g.(162683798_162864341)_(162864506_163148693)dup	PACRG, PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1687195	NM_004562.3(PRKN):c.1083+1del	PRKN	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 1456905	NM_004562.3(PRKN):c.971del (p.Val324fs)	PRKN (V175fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1402237	NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	PRKN (D184V)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 1335654	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	PRKN (Q25*)	Single nucleotide variant (nonsense)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic/Likely pathogenic
Select item 1334464	NC_000006.11:g.(?_162474785)_(162475494_?)del	PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1334463	NM_004562.3(PRKN):c.915G>T (p.Arg305Ser)	PRKN (R156S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign
Select item 1172527	NM_004562.3(PRKN):c.491del (p.Val164fs)	LOC126859871, PRKN (V164fs)	Deletion (frameshift variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1130407	NM_004562.3(PRKN):c.219G>A (p.Pro73=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 1082790	NM_004562.3(PRKN):c.744C>G (p.Val248=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1027679	NM_004562.3(PRKN):c.618+7842_618+7934inv	PRKN	Inversion (intron variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 976673	GRCh37/hg19 6q26(chr6:162137107-162137163)	PRKN	Copy number loss	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
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 952556	NM_004562.3(PRKN):c.904C>T (p.His302Tyr)	PRKN (H302Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946993	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)	PRKN (G118A)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 907231	NM_004562.3(PRKN):c.594C>T (p.Ser198=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907230	NM_004562.3(PRKN):c.600C>T (p.His200=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 907229	NM_004562.3(PRKN):c.614G>A (p.Ser205Asn)	PRKN (S205N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 907228	NM_004562.3(PRKN):c.735-14C>G	PRKN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Lung cancer +2 more	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 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 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 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 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 906286	NM_004562.3(PRKN):c.-85G>A	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906285	NM_004562.3(PRKN):c.-78C>A	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906284	NM_004562.3(PRKN):c.-57G>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906230	NM_004562.3(PRKN):c.814C>A (p.Leu272Ile)	PRKN (L244I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906229	NM_004562.3(PRKN):c.892A>T (p.Ile298Phe)	PRKN (I149F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906228	NM_004562.3(PRKN):c.987C>T (p.Gly329=)	PRKN	Single nucleotide variant (synonymous 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 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 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 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 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 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 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 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 905718	NM_004562.3(PRKN):c.1041G>A (p.Gln347=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905717	NM_004562.3(PRKN):c.1056C>T (p.Cys352=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 905716	NM_004562.3(PRKN):c.1193C>T (p.Ala398Val)	PRKN (A249V +2 more)	Single nucleotide variant (missense 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 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 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 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 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 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 903886	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)	PRKN (T83A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GUncertain significance
Select item 903885	NM_004562.3(PRKN):c.255C>T (p.Gly85=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 903817	NM_004562.3(PRKN):c.1205G>A (p.Arg402His)	PRKN (R253H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 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 871036	NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)	PRKN (P37L)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 857451	NM_004562.3(PRKN):c.310C>T (p.Arg104Trp)	PRKN (R104W)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GUncertain significance
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	Lung cancer +3 more	GPathogenic/Likely pathogenic
Select item 830820	NC_000006.12:g.(?_162262525)_(162275409_?)dup	PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 817926	NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)	PRKN (W74fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 810636	NM_004562.3(PRKN):c.101del (p.Gln34fs)	PRKN (Q34fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 805243	NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	PACRG, PRKN (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 701646	NM_004562.3(PRKN):c.174T>C (p.Asn58=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 697532	NM_004562.3(PRKN):c.276G>A (p.Ala92=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Neoplasm of ovary +3 more	GLikely benign
Select item 696485	NM_004562.3(PRKN):c.714C>T (p.Cys238=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 696404	NM_004562.3(PRKN):c.531C>A (p.Thr177=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 696161	NM_004562.3(PRKN):c.837C>T (p.His279=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 662856	NC_000006.11:g.(?_162622143)_(163148721_?)dup	LOC126859871, PACRG +1 more	Duplication	not provided	GUncertain significance
Select item 649511	NM_004562.3(PRKN):c.799T>C (p.Tyr267His)	PRKN (Y239H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GUncertain significance
Select item 645725	NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)	PRKN (C253Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GPathogenic
Select item 639364	NC_000006.11:g.(?_162206784)_(162206960_?)dup	PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 583917	NC_000006.11:g.(?_162394314)_(162475226_?)dup	PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 583674	NC_000006.12:g.(?_161569335)_(161569436_?)del	PRKN	Deletion	not provided	GPathogenic
Select item 583519	NC_000006.11:g.(?_162683537)_(162683817_?)dup	PRKN	Duplication	not provided	GPathogenic
Select item 583484	NC_000006.11:g.(?_161969866)_(161970055_?)dup	PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 583436	NC_000006.11:g.(?_162683537)_(162864525_?)dup	PRKN	Duplication	not provided	GUncertain significance
Select item 579080	NM_004562.3(PRKN):c.838G>A (p.Asp280Asn)	PRKN (D280N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GUncertain significance
Select item 578186	NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	PRKN (R33Q)	Single nucleotide variant (missense variant)	Lung cancer +4 more	GPathogenic/Likely pathogenic
Select item 577057	NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)	PRKN (E310D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 574874	NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)	PRKN (R256C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560128	Single allele	LOC126859871, PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GLikely pathogenic
Select item 536459	NC_000006.12:g.(?_161785752)_(161973437_?)del	PRKN	Deletion	not provided	GPathogenic
Select item 536457	NM_004562.3(PRKN):c.155del (p.Asn52fs)	PRKN (N52fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic
Select item 468587	NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)	LOC126859871, PRKN (P153R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign/Likely benign
Select item 468586	NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)	PRKN (A46T)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign/Likely benign
Select item 468584	NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)	PRKN (Q34R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 468583	NM_004562.3(PRKN):c.1001G>A (p.Arg334His)	PRKN (R334H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 468582	NC_000006.11:g.(?_162864322)_(162864525_?)dup	PRKN	Duplication	not provided	GPathogenic
Select item 468581	NC_000006.12:g.(?_162262505)_(162443493_?)del	PRKN	Deletion	not provided	GPathogenic

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