Unique variants in the PARK2 gene

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_004562.2 transcript reference sequence.

168 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 - c.-262027_*5116666del r.0? p.0? - VUS g.156654465_163410727del - - - PARK2_000136 - - - - Unknown - - - - - Gijs Santen
?/. 1 _1 c.-21G>T r.(?) p.(=) - VUS g.163148721C>A g.162727689C>A - - PARK2_000001 - PubMed: Hedrich 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)del r.? p.? - pathogenic g.(161781238_161807826)_(161807910_161969888)del g.(161360206_161386794)_(161386878_161548856)del c.1084-?_1167+?del - PARK2_000089 - PubMed: Foroud 2003, PubMed: Periquet 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)dup r.? p.? - pathogenic g.(161781238_161807826)_(161807910_161969888)dup g.(161360206_161386794)_(161386878_161548856)dup c.1084-?_1167+?dup - PARK2_000075 - PubMed: Foroud 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 10i_11i c.(1167+1_1168-1)_(1285+1_1286-1)dup r.? p.? - pathogenic g.(161771244_161781120)_(161781238_161807826)dup g.(161350212_161360088)_(161360206_161386794)dup c.1168-?_1285+?dup, Ex11dup - PARK2_000076 - {PMID16908747:Chung 2006, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 11i_12_ c.(1285+1_1286-1)_*2541{0} r.? p.? - pathogenic g.(?_161768590)_(161771244_161781120)del g.(?_161347558)_(161350212_161360088)del c.1286-?_(*2679_?)del - PARK2_000090 - PubMed: Lucking 1998 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2i_9i c.(171+1_172-1)_(1083+1_1084-1)del r.? p.? - pathogenic g.(161807910_161969888)_(162683798_162864342)del g.(161386878_161548856)_(162262766_162443310)del c.172-?_1083+?del - PARK2_000093 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 2i_3i c.(171+1_172-1)_(412+1_413-1)del r.? p.? - pathogenic g.(162622285_162683557)_(162683798_162864342)del g.(162201253_162262525)_(162262766_162443310)del c.172-?_412+?del - PARK2_000083 - PubMed: Kitada 1998, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2i_3i c.(171+1_172-1)_(412+1_413-1)dup r.? p.? - pathogenic g.(162622285_162683557)_(162683798_162864342)dup g.(162201253_162262525)_(162262766_162443310)dup c.172-?_412+?dup - PARK2_000068 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 5 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del c.172-?_534+?del, Ex3 del - PARK2_000098 - PubMed: Chung 2006, PubMed: Chung 2008, PubMed: de Cavalho Aguiar 2008, PubMed: Hattori 1998, 1 more item - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2i_4i c.(171+1_172-1)_(534+1_535-1)dup r.? p.? - pathogenic g.(162475207_162622163)_(162683798_162864342)dup g.(162054175_162201131)_(162262766_162443310)dup c.172-?_534+?dup - PARK2_000077 - PubMed: Periquet 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 3 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.? - pathogenic g.(162394450_162475122)_(162683798_162864342)del g.(161973418_162054090)_(162262766_162443310)del c.172-?_618+?del - PARK2_000096 - PubMed: Periquet 2003, PubMed: Rawal 2003, PubMed: West 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 2i_6i c.(171+1_172-1)_(734+1_735-1)del r.? p.? - pathogenic g.(162206941_162394334)_(162683798_162864342)del g.(161785909_161973302)_(162262766_162443310)del c.172-?_734+?del - PARK2_000095 - PubMed: Lucking 2000, PubMed: Rawal 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2i_7i c.(171+1_172-1)_(871+1_872-1)del r.? p.? - pathogenic g.(161990449_162206805)_(162683798_162864342)del g.(161569417_161785773)_(162262766_162443310)del c.172-?_871+?del - PARK2_000094 - PubMed: Kitada 1998 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 3i_4i c.(412+1_413-1)_(534+1_535-1)del r.? p.? - pathogenic g.(162475207_162622163)_(162622285_162683557)del g.(162054175_162201131)_(162201253_162262525)del c.413-?_534+?del - PARK2_000084 - PubMed: Kitada 1998, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 3i_4i c.(412+1_413-1)_(534+1_535-1)dup r.? p.? - pathogenic g.(162475207_162622163)_(162622285_162683557)dup g.(162054175_162201131)_(162201253_162262525)dup c.413-?_534+?dup - PARK2_000069 - PubMed: Hedrich 2001, PubMed: West 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 3i_5i c.(412+1_413-1)_(618+1_619-1)del r.? p.? - pathogenic g.(162394450_162475122)_(162622285_162683557)del g.(161973418_162054090)_(162201253_162262525)del c.413-?_618+?del - PARK2_000106 - PubMed: Kann 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 3i_6i c.(412+1_413-1)_(734+1_735-1)del r.? p.? - pathogenic g.(162206941_162394334)_(162622285_162683557)del g.(161785909_161973302)_(162201253_162262525)del c.413-?_734+?del - PARK2_000091 - PubMed: Foroud 2003, PubMed: Nichols 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 3i_7i c.(412+1_413-1)_(871+1_872-1)del r.? p.? - pathogenic g.(161990449_162206805)_(162622285_162683557)del g.(161569417_161785773)_(162201253_162262525)del c.413-?_871+?del - PARK2_000092 - PubMed: Rawal 2003, PubMed: West 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 4i_5i c.(534+1_535-1)_(618+1_619-1)del r.? p.? - pathogenic g.(162394450_162475122)_(162475207_162622163)del g.(161973418_162054090)_(162054175_162201131)del c.535-?_618+?del - PARK2_000085 - PubMed: Kitada 1998, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.? - pathogenic g.(162394450_162475122)_(162475207_162622163)dup g.(161973418_162054090)_(162054175_162201131)dup c.535-?_618+?dup - PARK2_000070 - PubMed: Hedrich 2002, PubMed: Nichols 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 4i_7i c.(534+1_535-1)_(734+1_735-1)del r.? p.? - pathogenic g.(162206941_162394334)_(162475207_162622163)del g.(161785909_161973302)_(162054175_162201131)del c.535-?_734+?del - PARK2_000099 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 4i_7i c.(534+1_535-1)_(871+1_872-1)del r.? p.? - pathogenic g.(161990449_162206805)_(162475207_162622163)del g.(161569417_161785773)_(162054175_162201131)del c.535-?_871+?del - PARK2_000104 - PubMed: Leroy 1998 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 5i_6i c.(618+1_619-1)_(734+1_735-1)del r.? p.? - pathogenic g.(162206941_162394334)_(162394450_162475122)del g.(161785909_161973302)_(161973418_162054090)del c.619-?_734+?del - PARK2_000086 - PubMed: Nichols 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.? - pathogenic g.(162206941_162394334)_(162394450_162475122)dup g.(161785909_161973302)_(161973418_162054090)dup c.619-?_734+?dup - PARK2_000071 - PubMed: Lucking 2000, PubMed: Periquet 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 5i_7i c.(618+1_619-1)_(871+1_872-1)del r.? p.? - pathogenic g.(161990449_162206805)_(162394450_162475122)del g.(161569417_161785773)_(161973418_162054090)del c.619-?_871+?del - PARK2_000097 - PubMed: Lucking 2000, PubMed: Maruyama 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 5i_7i c.(618+1_619-1)_(871+1_872-1)dup r.? p.? - pathogenic g.(161990449_162206805)_(162394450_162475122)dup g.(161569417_161785773)_(161973418_162054090)dup c.619-?_871+?dup - PARK2_000080 - PubMed: Nichols 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+, +/. 4 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.? - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - {PMID16908747:Chung 2006, PubMed: Chung 2006, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele, Silvia García
+/+ 2 1i_3i c.(7+1_8-1)_(171+1_172-1)[3] r.? p.? - pathogenic g.(162683798_162864341)_(162864506_163148693)[3] g.(162262766_162443310)_(162443474_162727662)[3] c.8-?_171+?trip - PARK2_000067 - PubMed: Kann 2002, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 1i_3i c.(7+1_8-1)_(412+1_413-1)del r.? p.? - pathogenic g.(162622285_162683556)_(162864506_163148693)del g.(162201253_162262525)_(162443474_162727662)del c.8-?_412+?del - PARK2_000105 - PubMed: Foroud 2003, PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 1i_3i c.(7+1_8-1)_(412+1_413-1)dup r.? p.? - pathogenic g.(162622285_162683556)_(162864506_163148693)dup g.(162201253_162262525)_(162443474_162727662)dup c.8-?_412+?dup - PARK2_000079 - PubMed: Periquet 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 1i_4i c.(7+1_8-1)_(534+1_535-1)del r.? p.? - pathogenic g.(162475207_162622162)_(162864506_163148693)del g.(162054175_162201131)_(162443474_162727662)del c.8-?_534+?del - PARK2_000103 - PubMed: Lucking 2000, PubMed: Maruyama 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 1i_4i c.(7+1_8-1)_(534+1_535-1)dup r.? p.? - pathogenic g.(162475207_162622162)_(162864506_163148693)dup g.(162054175_162201131)_(162443474_162727662)dup c.8-?_534+?dup - PARK2_000078 - PubMed: Foroud 2003, PubMed: Periquet 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 1i_5i c.(7+1_8-1)_(618+1_619-1)del r.? p.? - pathogenic g.(162394450_162475122)_(162864506_163148693)del g.(161973418_162054090)_(162443474_162727662)del c.8-?_618+?del - PARK2_000101 - PubMed: Kann 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 6i_9i c.(734+1_735-1)_(1083+1_1084-1)del r.? p.? - pathogenic g.(161807910_161969885)_(162206941_162394333)del g.(161386878_161548856)_(161785909_161973302)del c.735-?_1083+?del - PARK2_000102 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 3 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.? - pathogenic g.(161990449_162206803)_(162206941_162394333)del g.(161569417_161785773)_(161785909_161973302)del c.735-?_871+?del, Ex7del - PARK2_000087 - PubMed: Chung 2006, PubMed: Hedrich 2004 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 6i_7i c.(734+1_735-1)_(871+1_872-1)dup r.? p.? - pathogenic g.(161990449_162206803)_(162206941_162394333)dup g.(161569417_161785773)_(161785909_161973302)dup c.735-?_871+?dup - PARK2_000072 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 7i_9i c.(871+1_872-1)_(1083+1_1084-1)del r.? p.? - pathogenic g.(161807910_161969885)_(161990449_162206803)del g.(161386878_161548856)_(161569417_161785773)del c.872-?_1083+?del - PARK2_000100 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 7i_8i c.(871+1_872-1)_(933+1_934-1)del r.? p.? - pathogenic g.(161970036_161990386)_(161990449_162206803)del g.(161549004_161569355)_(161569417_161785773)del c.872-?_933+?del - PARK2_000088 - PubMed: Lucking 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.? - pathogenic g.(161970036_161990386)_(161990449_162206803)dup g.(161549004_161569355)_(161569417_161785773)dup c.872-?_933+?dup - PARK2_000073 - PubMed: Foroud 2003, PubMed: Nichols 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 8i_9i c.(933+1_934-1)_(1083+1_1084-1)dup r.? p.? - pathogenic g.(161807910_161969885)_(161970036_161990386)dup g.(161386878_161548856)_(161549004_161569355)dup c.934-?_1083+?dup - PARK2_000074 - PubMed: Kann 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 _1_4i c.-125_(534+1_535-1){0} r.0? p.0? - pathogenic g.(162475207_162622162)_(163148825_?)del g.(162054175_162201131)_(162727793_?)del c.(?_-103)_534+?del - PARK2_000135 - PubMed: Chung 2008 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 2 _1_1i c.-125_(7+1_8-1){0} r.0? p.0? - pathogenic g.(162864506_163148693)_(163148825_?)del g.(162262766_162443310)_(162727793_?)del c.(?_-103)_7+?dup - PARK2_000081 - PubMed: Hedrich 2002, PubMed: West 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 _1_1i c.-125_(7+1_8-1){2} r.0? p.0? - pathogenic g.(162864506_163148693)_(163148825_?)dup g.(162262766_162443310)_(162727793_?)dup ex1 dupl - PARK2_000107 - PubMed: Sun 2006 - - Germline - 0/252ctrl chromosomes - - - The Parkinson's Institute - Birgitt Schuele
+/. 1 - c.1A>G r.(?) p.(Met1?) - pathogenic g.163148700T>C g.162727668T>C - - PARK2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 1 c.1A>T r.(?) p.0? - pathogenic g.163148700T>A g.162727668T>A - - PARK2_000002 - PubMed: Rawal 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 1i c.7+1G>A r.spl p.? - pathogenic g.163148693C>T g.162727661C>T - - PARK2_000003 - PubMed: Illarioshkin 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-?/. 1 - c.7+4C>T r.spl? p.? - likely benign g.163148690G>A g.162727658G>A PARK2(NM_004562.2):c.7+4C>T - PARK2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.8-60777_171+26821del r.? p.(Val3Glufs*3) - likely pathogenic g.162837522_162925283del g.162416490_162504251del NG_008289.2:g.228553_316314del - PARK2_000178 - - - - Germline yes One sibling - - - Coro Paisan-Ruiz
?/. 1 - c.23A>C r.(?) p.(Asn8Thr) - VUS g.162864490T>G g.162443458T>G PARK2(NM_004562.2):c.23A>C (p.N8T) - PARK2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.34G>C r.(?) p.(Gly12Arg) - VUS g.162864479C>G g.162443447C>G - - PARK2_000112 - PubMed: Mellick 2008 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 2 c.43G>A r.(?) p.(Val15Met) - VUS g.162864470C>T g.162443438C>T - - PARK2_000004 - PubMed: Munoz 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-?/. 1 - c.48G>A r.(?) p.(Glu16=) - likely benign g.162864465C>T g.162443433C>T PARK2(NM_004562.2):c.48G>A (p.E16=) - PARK2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.52G>A r.(?) p.(Asp18Asn) - VUS g.162864461C>T g.162443429C>T - - PARK2_000134 - PubMed: Annesi 2007 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 2 c.95A>C r.(?) p.(Lys32Thr) - VUS g.162864418T>G g.162443386T>G - - PARK2_000109 - PubMed: Tarantino 2007 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2 c.97C>T r.(?) p.(Arg33*) - pathogenic g.162864416G>A g.162443384G>A - - PARK2_000005 - PubMed: Maruyama 2000 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 2 c.98G>A r.(?) p.(Arg33Gln) - VUS g.162864415C>T g.162443383C>T - - PARK2_000006 - PubMed: Oliveira 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-/. 1 - c.101A>G r.(?) p.(Gln34Arg) - benign g.162864412T>C g.162443380T>C PARK2(NM_004562.2):c.101A>G (p.Q34R) - PARK2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 2 c.101del r.(?) p.(Gln34Argfs*10) - pathogenic g.162864412del g.162443380del 101delA - PARK2_000008 - PubMed: Munoz 2002, PubMed: Nisipeanu 2001 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+, +/. 3 2 c.101_102del r.(?) p.(Gln34Argfs*5), p.(Gln34ArgfsTer5) - pathogenic g.162864411_162864412del g.162443379_162443380del 101_102delAG, 1 more item - PARK2_000007 VKGL data sharing initiative Nederland PubMed: Abbas 1999 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele, VKGL-NL_Groningen
?/. 2 2 c.110C>T r.(?) p.(Pro37Leu) - VUS g.162864403G>A g.162443371G>A PARK2(NM_004562.2):c.110C>T (p.P37L) - PARK2_000009 VKGL data sharing initiative Nederland PubMed: Kann 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
?/. 1 2 c.125G>C r.(?) p.(Arg42Pro) - VUS g.162864388C>G g.162443356C>G - - PARK2_000010 - PubMed: Terreni 2001 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-/. 1 - c.136G>A r.(?) p.(Ala46Thr) - benign g.162864377C>T g.162443345C>T - - PARK2_000202 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75860381 Germline - 2/2795 individuals - - - Mohammed Faruq
?/. 1 2 c.136G>C r.(?) p.(Ala46Pro) - VUS g.162864377C>G g.162443345C>G - - PARK2_000011 - PubMed: Xu 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 2 c.154_155del r.(?) p.(Asn52*) - pathogenic g.162864358_162864359del g.162443326_162443327del 154_155delAA - PARK2_000012 - PubMed: Abbas 1999 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+, +/. 2 2 c.155del r.(?) p.(Asn52Metfs*29), p.(Asn52MetfsTer29) - pathogenic g.162864358del, g.162864359del g.162443327del 154delA, PARK2(NM_004562.2):c.155delA (p.N52Mfs*29) - PARK2_000013 VKGL data sharing initiative Nederland PubMed: Abbas 1999 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
+/+ 1 2 c.156dup r.(?) p.(Asp53*) - pathogenic g.162864357dup g.162443325dup 156_157insT - PARK2_000111 - PubMed: de Cavalho Aguiar 2008 - - Germline - 2/72 EOPD, 0/81ctrl - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 2 c.164C>T r.(?) p.(Thr55Ile) - VUS g.162864349G>A g.162443317G>A - - PARK2_000110 - PubMed: Rocca 2007 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/., ?/. 2 2 c.167T>A r.(?) p.(Val56Glu) - pathogenic, VUS g.162864346A>T g.162443314A>T PRKN(NM_004562.2):c.167T>A (p.V56E) - PARK2_000014 VKGL data sharing initiative Nederland PubMed: Hoenicka 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
-/. 1 - c.171+25T>C r.(=) p.(=) - benign g.162864317A>G g.162443285A>G PARK2(NM_004562.2):c.171+25T>C - PARK2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.172-41049_412+28296del r.? p.(Asn58Glnfs*39) - likely pathogenic g.162655261_162724846del g.162234229_162303814del NG_008289.2:g.428989_498574del - PARK2_000179 - - - - Germline yes - - - - Coro Paisan-Ruiz
-?/. 1 - c.172-38_172-18dup r.(=) p.(=) - likely benign g.162683815_162683835dup g.162262783_162262803dup PRKN(NM_004562.2):c.172-38_172-18dupTTTTTTTTTTTTTTTTTTTTT - PARK2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.172-19_172-18del r.(=) p.(=) - likely benign g.162683834_162683835del g.162262802_162262803del PRKN(NM_004562.2):c.172-19_172-18delTT - PARK2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.172-18del r.(=) p.(=) - likely benign g.162683835del g.162262803del PRKN(NM_004562.2):c.172-18delT - PARK2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.172-18T>A r.(=) p.(=) - benign g.162683815A>T g.162262783A>T PARK2(NM_004562.2):c.172-18T>A - PARK2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.172-12G>T r.(=) p.(=) - benign g.162683809C>A g.162262777C>A PRKN(NM_013987.3):c.172-12G>T - PARK2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.(?) p.del? - pathogenic g.(162394450_162475122)_(162683798_162864342)del g.(161973418_162054090)_(162262766_162443310)del - - PARK2_000096 - - - - Germline/De novo (untested) - - - - - IMGAG
+/+ 1 3 c.220_221insGT r.(?) p.(Trp74Cysfs*8) - pathogenic g.162683748_162683749insAC g.162262717_162262718dup - - PARK2_000015 - PubMed: Abbas 1999 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 3 c.235G>T r.(?) p.(Glu79*) - pathogenic g.162683734C>A g.162262702C>A - - PARK2_000016 - PubMed: Foroud 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 3 c.245C>A r.(?) p.(Ala82Glu) - VUS g.162683724G>T g.162262692G>T - - PARK2_000017 - PubMed: Hedrich 2001 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 3 c.256G>A r.(?) p.(Asp86Asn) - VUS g.162683713C>T g.162262681C>T - - PARK2_000113 - PubMed: Ciro Candiano 2007 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-?/. 1 - c.258C>T r.(?) p.(Asp86=) - likely benign g.162683711G>A g.162262679G>A PRKN(NM_004562.2):c.258C>T (p.D86=) - PARK2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.276G>A r.(?) p.(Ala92=) - likely benign g.162683693C>T g.162262661C>T PARK2(NM_004562.2):c.276G>A (p.A92=) - PARK2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.300G>C r.(?) p.(Gln100His) - VUS g.162683669C>G g.162262637C>G - - PARK2_000018 - PubMed: Chen 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 3 c.337_376del r.(?) p.(Pro113Thrfs*51) - pathogenic g.162683593_162683632del g.162262561_162262600del - - PARK2_000019 - PubMed: Farrer 2001 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 3 c.372C>T r.(?) p.(His124=) - VUS g.162683597G>A g.162262565G>A - - PARK2_000020 - PubMed: Chen 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+?/. 1 - c.412+16037_734+54332delinsATCTGATAAAGTCAG r.? p.(Ala138Glyfs*14) - likely pathogenic g.162340002_162667520delinsCTGACTTTATCAGAT g.161918970_162246488delinsCTGACTTTATCAGAT NG_008289.2:g.486315_813833del - PARK2_000180 15bp insertion ATCTGATAAAGTCAG between the deletion breakpoints - - - Germline yes - - - - Coro Paisan-Ruiz
+?/. 1 - c.413-19615_534+16749del r.? p.(Ala138Glyfs*7) - likely pathogenic g.162605414_162641899del g.162184382_162220867del NG_008289.2:g.511936_548421del - PARK2_000181 - - - - Germline yes - - - - Coro Paisan-Ruiz
-/. 2 - c.413-20T>C r.(=) p.(=) - benign g.162622304A>G g.162201272A>G PRKN(NM_004562.3):c.413-20T>C, PRKN(NM_013987.3):c.413-20T>C - PARK2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 2 4 c.458C>G r.(?) p.(Pro153Arg) - VUS g.162622239G>C g.162201207G>C PARK2(NM_004562.2):c.458C>G (p.P153R) - PARK2_000115 VKGL data sharing initiative Nederland PubMed: Clark 2007 - - CLASSIFICATION record, Germline - 1 - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
?/. 1 4 c.483A>T r.(?) p.(Lys161Asn) - VUS g.162622214T>A g.162201182T>A - - PARK2_000021 - PubMed: Abbas 1999 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-/., ?/. 4 4 c.500G>A r.(?) p.(Ser167Asn) - benign, VUS g.162622197C>T g.162201165C>T PARK2(NM_004562.2):c.500G>A (p.S167N), PRKN(NM_013987.3):c.500G>A (p.S167N) - PARK2_000022 VKGL data sharing initiative Nederland PubMed: Abbas 1999, PubMed: Hattori 1998 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele, VKGL-NL_VUmc
-?/. 1 - c.522C>T r.(?) p.(Leu174=) - likely benign g.162622175G>A g.162201143G>A PRKN(NM_004562.2):c.522C>T (p.L174=) - PARK2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.534+9A>G r.(=) p.(=) - likely benign g.162622154T>C g.162201122T>C PARK2(NM_004562.2):c.534+9A>G - PARK2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.534+42943_618+24032delinsAGGCATCACTC r.? p.? - likely pathogenic g.162451091_162579220delinsGAGTGATGCCT g.162030059_162158188delinsGAGTGATGCCT NG_008289.2:g.574615_702745del - PARK2_000177 deletion from 162,605,414 to 162,641,899, 12bp insertion between deletion breakpoints AGGCATCACTCA - - - Germline yes - - - - Coro Paisan-Ruiz
+/+ 1 5 c.536del r.(?) p.(Gly179Valfs*9) - pathogenic g.162475205del g.162054175del 535delG - PARK2_000023 - PubMed: Hattori 1998 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 5 c.574A>C r.(?) p.(Met192Leu) - VUS g.162475167T>G g.162054135T>G - - PARK2_000024 - PubMed: Hedrich 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 5 c.574A>G r.(?) p.(Met192Val) - VUS g.162475167T>C g.162054135T>C - - PARK2_000108 - PubMed: Foroud 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 5 c.574A>T r.(?) p.(Met192Leu) - VUS g.162475167T>A g.162054135T>A - - PARK2_000116 - PubMed: Clark 2007 - - Germline - 1 - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 5i c.618+2T>A r.spl p.? - pathogenic g.162475121A>T g.162054089A>T - - PARK2_000025 - PubMed: West 2002 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
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