Full data view for gene PARK2

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

250 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? - c.-262027_*5116666del r.0? p.0? Unknown - VUS g.156654465_163410727del - - - PARK2_000136 - - - - Unknown - - - 0 - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/. _1 c.-21G>T r.(?) p.(=) Unknown - VUS g.163148721C>A g.162727689C>A - - PARK2_000001 - PubMed: Hedrich 2002 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Hedrich 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)del r.? p.? Unknown - pathogenic g.(161781238_161807826)_(161807910_161969888)del g.(161360206_161386794)_(161386878_161548856)del c.1084-?_1167+?del - PARK2_000089 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)del r.? p.? Unknown - pathogenic g.(161781238_161807826)_(161807910_161969888)del g.(161360206_161386794)_(161386878_161548856)del c.1084-?_1167+?del - PARK2_000089 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)dup r.? p.? Unknown - pathogenic g.(161781238_161807826)_(161807910_161969888)dup g.(161360206_161386794)_(161386878_161548856)dup c.1084-?_1167+?dup - PARK2_000075 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 10i_11i c.(1167+1_1168-1)_(1285+1_1286-1)dup r.? p.? Unknown - pathogenic g.(161771244_161781120)_(161781238_161807826)dup g.(161350212_161360088)_(161360206_161386794)dup c.1168-?_1285+?dup - PARK2_000076 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 10i_11i c.(1167+1_1168-1)_(1285+1_1286-1)dup r.? p.? Parent #2 - pathogenic g.(161771244_161781120)_(161781238_161807826)dup g.(161350212_161360088)_(161360206_161386794)dup Ex11dup - PARK2_000076 - {PMID16908747:Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - {PMID16908747:Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 11i_12_ c.(1285+1_1286-1)_*2541{0} r.? p.? Unknown - pathogenic g.(?_161768590)_(161771244_161781120)del g.(?_161347558)_(161350212_161360088)del c.1286-?_(*2679_?)del - PARK2_000090 - PubMed: Lucking 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_9i c.(171+1_172-1)_(1083+1_1084-1)del r.? p.? Unknown - pathogenic g.(161807910_161969888)_(162683798_162864342)del g.(161386878_161548856)_(162262766_162443310)del c.172-?_1083+?del - PARK2_000093 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)del r.? p.? Unknown - pathogenic g.(162622285_162683557)_(162683798_162864342)del g.(162201253_162262525)_(162262766_162443310)del c.172-?_412+?del - PARK2_000083 - PubMed: Kitada 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kitada 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)del r.? p.? Unknown - pathogenic g.(162622285_162683557)_(162683798_162864342)del g.(162201253_162262525)_(162262766_162443310)del c.172-?_412+?del - PARK2_000083 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)dup r.? p.? Unknown - pathogenic g.(162622285_162683557)_(162683798_162864342)dup g.(162201253_162262525)_(162262766_162443310)dup c.172-?_412+?dup - PARK2_000068 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del c.172-?_534+?del - PARK2_000098 - PubMed: Hattori 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hattori 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del c.172-?_534+?del - PARK2_000098 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del Ex3 del - PARK2_000098 - PubMed: de Cavalho Aguiar 2008 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: de Cavalho Aguiar 2008 4/72 EOPD, 0/81 ctrl - - - - - 0 - - 4 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? Parent #2 - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del Ex3 del - PARK2_000098 - PubMed: Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.? Parent #2 - pathogenic g.(162475207_162622163)_(162683798_162864342)del g.(162054175_162201131)_(162262766_162443310)del Ex3 del - PARK2_000098 - PubMed: Chung 2008 - - Germline - - - 0 - DNA MLPA - - PARK - PubMed: Chung 2008 no family history, marked diurnal fluctation and rest benefit M - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)dup r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162683798_162864342)dup g.(162054175_162201131)_(162262766_162443310)dup c.172-?_534+?dup - PARK2_000077 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162683798_162864342)del g.(161973418_162054090)_(162262766_162443310)del c.172-?_618+?del - PARK2_000096 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162683798_162864342)del g.(161973418_162054090)_(162262766_162443310)del c.172-?_618+?del - PARK2_000096 - PubMed: Rawal 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Rawal 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162683798_162864342)del g.(161973418_162054090)_(162262766_162443310)del c.172-?_618+?del - PARK2_000096 - PubMed: West 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: West 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_6i c.(171+1_172-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162683798_162864342)del g.(161785909_161973302)_(162262766_162443310)del c.172-?_734+?del - PARK2_000095 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_6i c.(171+1_172-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162683798_162864342)del g.(161785909_161973302)_(162262766_162443310)del c.172-?_734+?del - PARK2_000095 - PubMed: Rawal 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Rawal 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2i_7i c.(171+1_172-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162683798_162864342)del g.(161569417_161785773)_(162262766_162443310)del c.172-?_871+?del - PARK2_000094 - PubMed: Kitada 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kitada 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162622285_162683557)del g.(162054175_162201131)_(162201253_162262525)del c.413-?_534+?del - PARK2_000084 - PubMed: Kitada 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kitada 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162622285_162683557)del g.(162054175_162201131)_(162201253_162262525)del c.413-?_534+?del - PARK2_000084 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)dup r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162622285_162683557)dup g.(162054175_162201131)_(162201253_162262525)dup c.413-?_534+?dup - PARK2_000069 - PubMed: Hedrich 2001 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hedrich 2001 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)dup r.? p.? Unknown - pathogenic g.(162475207_162622163)_(162622285_162683557)dup g.(162054175_162201131)_(162201253_162262525)dup c.413-?_534+?dup - PARK2_000069 - PubMed: West 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: West 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_5i c.(412+1_413-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162622285_162683557)del g.(161973418_162054090)_(162201253_162262525)del c.413-?_618+?del - PARK2_000106 - PubMed: Kann 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kann 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_6i c.(412+1_413-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162622285_162683557)del g.(161785909_161973302)_(162201253_162262525)del c.413-?_734+?del - PARK2_000091 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_6i c.(412+1_413-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162622285_162683557)del g.(161785909_161973302)_(162201253_162262525)del c.413-?_734+?del - PARK2_000091 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_7i c.(412+1_413-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162622285_162683557)del g.(161569417_161785773)_(162201253_162262525)del c.413-?_871+?del - PARK2_000092 - PubMed: Rawal 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Rawal 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3i_7i c.(412+1_413-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162622285_162683557)del g.(161569417_161785773)_(162201253_162262525)del c.413-?_871+?del - PARK2_000092 - PubMed: West 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: West 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)del g.(161973418_162054090)_(162054175_162201131)del c.535-?_618+?del - PARK2_000085 - PubMed: Kitada 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kitada 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)del g.(161973418_162054090)_(162054175_162201131)del c.535-?_618+?del - PARK2_000085 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)dup g.(161973418_162054090)_(162054175_162201131)dup c.535-?_618+?dup - PARK2_000070 - PubMed: Hedrich 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hedrich 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162475207_162622163)dup g.(161973418_162054090)_(162054175_162201131)dup c.535-?_618+?dup - PARK2_000070 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_7i c.(534+1_535-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162475207_162622163)del g.(161785909_161973302)_(162054175_162201131)del c.535-?_734+?del - PARK2_000099 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 4i_7i c.(534+1_535-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162475207_162622163)del g.(161569417_161785773)_(162054175_162201131)del c.535-?_871+?del - PARK2_000104 - PubMed: Leroy 1998 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Leroy 1998 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)del r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162394450_162475122)del g.(161785909_161973302)_(161973418_162054090)del c.619-?_734+?del - PARK2_000086 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162394450_162475122)dup g.(161785909_161973302)_(161973418_162054090)dup c.619-?_734+?dup - PARK2_000071 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.? Unknown - pathogenic g.(162206941_162394334)_(162394450_162475122)dup g.(161785909_161973302)_(161973418_162054090)dup c.619-?_734+?dup - PARK2_000071 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162394450_162475122)del g.(161569417_161785773)_(161973418_162054090)del c.619-?_871+?del - PARK2_000097 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162394450_162475122)del g.(161569417_161785773)_(161973418_162054090)del c.619-?_871+?del - PARK2_000097 - PubMed: Maruyama 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Maruyama 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)dup r.? p.? Unknown - pathogenic g.(161990449_162206805)_(162394450_162475122)dup g.(161569417_161785773)_(161973418_162054090)dup c.619-?_871+?dup - PARK2_000080 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.? Unknown - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.? Parent #1 - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - {PMID16908747:Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - {PMID16908747:Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.? Parent #1 - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - PubMed: Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/. 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.? Parent #1 - pathogenic g.(162683798_162864341)_(162864506_163148693)del g.(162262766_162443310)_(162443474_162727662)del c.8-?_171+?del - PARK2_000082 - - - - Germline - - - 0 - DNA MLPA - - PARK - - no family history F - - Mexican mestizo - 0 - LDopa responsive 1 Silvia García
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)[3] r.? p.? Unknown - pathogenic g.(162683798_162864341)_(162864506_163148693)[3] g.(162262766_162443310)_(162443474_162727662)[3] c.8-?_171+?trip - PARK2_000067 - PubMed: Kann 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kann 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)[3] r.? p.? Unknown - pathogenic g.(162683798_162864341)_(162864506_163148693)[3] g.(162262766_162443310)_(162443474_162727662)[3] c.8-?_171+?trip - PARK2_000067 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)del r.? p.? Unknown - pathogenic g.(162622285_162683556)_(162864506_163148693)del g.(162201253_162262525)_(162443474_162727662)del c.8-?_412+?del - PARK2_000105 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)del r.? p.? Unknown - pathogenic g.(162622285_162683556)_(162864506_163148693)del g.(162201253_162262525)_(162443474_162727662)del c.8-?_412+?del - PARK2_000105 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)dup r.? p.? Unknown - pathogenic g.(162622285_162683556)_(162864506_163148693)dup g.(162201253_162262525)_(162443474_162727662)dup c.8-?_412+?dup - PARK2_000079 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622162)_(162864506_163148693)del g.(162054175_162201131)_(162443474_162727662)del c.8-?_534+?del - PARK2_000103 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)del r.? p.? Unknown - pathogenic g.(162475207_162622162)_(162864506_163148693)del g.(162054175_162201131)_(162443474_162727662)del c.8-?_534+?del - PARK2_000103 - PubMed: Maruyama 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Maruyama 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)dup r.? p.? Unknown - pathogenic g.(162475207_162622162)_(162864506_163148693)dup g.(162054175_162201131)_(162443474_162727662)dup c.8-?_534+?dup - PARK2_000078 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)dup r.? p.? Unknown - pathogenic g.(162475207_162622162)_(162864506_163148693)dup g.(162054175_162201131)_(162443474_162727662)dup c.8-?_534+?dup - PARK2_000078 - PubMed: Periquet 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Periquet 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i_5i c.(7+1_8-1)_(618+1_619-1)del r.? p.? Unknown - pathogenic g.(162394450_162475122)_(162864506_163148693)del g.(161973418_162054090)_(162443474_162727662)del c.8-?_618+?del - PARK2_000101 - PubMed: Kann 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kann 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 6i_9i c.(734+1_735-1)_(1083+1_1084-1)del r.? p.? Unknown - pathogenic g.(161807910_161969885)_(162206941_162394333)del g.(161386878_161548856)_(161785909_161973302)del c.735-?_1083+?del - PARK2_000102 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.? Unknown - pathogenic g.(161990449_162206803)_(162206941_162394333)del g.(161569417_161785773)_(161785909_161973302)del c.735-?_871+?del - PARK2_000087 - PubMed: Hedrich 2004 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hedrich 2004 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.? Parent #1 - pathogenic g.(161990449_162206803)_(162206941_162394333)del g.(161569417_161785773)_(161785909_161973302)del Ex7del - PARK2_000087 - PubMed: Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.? Parent #2 - pathogenic g.(161990449_162206803)_(162206941_162394333)del g.(161569417_161785773)_(161785909_161973302)del Ex7del - PARK2_000087 - PubMed: Chung 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Chung 2006 no family history - - Korea - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)dup r.? p.? Unknown - pathogenic g.(161990449_162206803)_(162206941_162394333)dup g.(161569417_161785773)_(161785909_161973302)dup c.735-?_871+?dup - PARK2_000072 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 7i_9i c.(871+1_872-1)_(1083+1_1084-1)del r.? p.? Unknown - pathogenic g.(161807910_161969885)_(161990449_162206803)del g.(161386878_161548856)_(161569417_161785773)del c.872-?_1083+?del - PARK2_000100 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)del r.? p.? Unknown - pathogenic g.(161970036_161990386)_(161990449_162206803)del g.(161549004_161569355)_(161569417_161785773)del c.872-?_933+?del - PARK2_000088 - PubMed: Lucking 2000 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Lucking 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.? Unknown - pathogenic g.(161970036_161990386)_(161990449_162206803)dup g.(161549004_161569355)_(161569417_161785773)dup c.872-?_933+?dup - PARK2_000073 - PubMed: Foroud 2003 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Foroud 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.? Unknown - pathogenic g.(161970036_161990386)_(161990449_162206803)dup g.(161549004_161569355)_(161569417_161785773)dup c.872-?_933+?dup - PARK2_000073 - PubMed: Nichols 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Nichols 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 8i_9i c.(933+1_934-1)_(1083+1_1084-1)dup r.? p.? Unknown - pathogenic g.(161807910_161969885)_(161970036_161990386)dup g.(161386878_161548856)_(161549004_161569355)dup c.934-?_1083+?dup - PARK2_000074 - PubMed: Kann 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Kann 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_4i c.-125_(534+1_535-1){0} r.0? p.0? Parent #1 - pathogenic g.(162475207_162622162)_(163148825_?)del g.(162054175_162201131)_(162727793_?)del c.(?_-103)_534+?del - PARK2_000135 - PubMed: Chung 2008 - - Germline - - - 0 - DNA MLPA - - PARK - PubMed: Chung 2008 no family history, marked diurnal fluctation and rest benefit M - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_1i c.-125_(7+1_8-1){0} r.0? p.0? Unknown - pathogenic g.(162864506_163148693)_(163148825_?)del g.(162262766_162443310)_(162727793_?)del c.(?_-103)_7+?dup - PARK2_000081 - PubMed: Hedrich 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Hedrich 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_1i c.-125_(7+1_8-1){0} r.0? p.0? Unknown - pathogenic g.(162864506_163148693)_(163148825_?)del g.(162262766_162443310)_(162727793_?)del c.(?_-103)_7+?dup - PARK2_000081 - PubMed: West 2002 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: West 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_1i c.-125_(7+1_8-1){2} r.0? p.0? Unknown - pathogenic g.(162864506_163148693)_(163148825_?)dup g.(162262766_162443310)_(162727793_?)dup ex1 dupl - PARK2_000107 - PubMed: Sun 2006 - - Germline - 0/252ctrl chromosomes - 0 - DNA PCRq - - PARK - PubMed: Sun 2006 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.163148700T>C g.162727668T>C - - PARK2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.1A>T r.(?) p.0? Unknown - pathogenic g.163148700T>A g.162727668T>A - - PARK2_000002 - PubMed: Rawal 2003 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Rawal 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 1i c.7+1G>A r.spl p.? Unknown - pathogenic g.163148693C>T g.162727661C>T - - PARK2_000003 - PubMed: Illarioshkin 2003 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Illarioshkin 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
-?/. - c.7+4C>T r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.8-60777_171+26821del r.? p.(Val3Glufs*3) Paternal (confirmed) - likely pathogenic g.162837522_162925283del g.162416490_162504251del NG_008289.2:g.228553_316314del - PARK2_000178 - - - - Germline yes One sibling - 0 - DNA SEQ-NG-I Whole blood - PARK-2 930042_II-1 - - F yes Iran - - 0 - - 1 Coro Paisan-Ruiz
?/. - c.23A>C r.(?) p.(Asn8Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.34G>C r.(?) p.(Gly12Arg) Parent #1 - VUS g.162864479C>G g.162443447C>G - - PARK2_000112 - PubMed: Mellick 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Mellick 2008 - - - - - - 0 - - 2 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.43G>A r.(?) p.(Val15Met) Unknown - VUS g.162864470C>T g.162443438C>T - - PARK2_000004 - PubMed: Munoz 2002 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Munoz 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
-?/. - c.48G>A r.(?) p.(Glu16=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.52G>A r.(?) p.(Asp18Asn) Unknown - VUS g.162864461C>T g.162443429C>T - - PARK2_000134 - PubMed: Annesi 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Annesi 2007 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.95A>C r.(?) p.(Lys32Thr) Unknown - VUS g.162864418T>G g.162443386T>G - - PARK2_000109 - PubMed: Tarantino 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tarantino 2007 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2 c.97C>T r.(?) p.(Arg33*) Unknown - pathogenic g.162864416G>A g.162443384G>A - - PARK2_000005 - PubMed: Maruyama 2000 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Maruyama 2000 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.98G>A r.(?) p.(Arg33Gln) Unknown - VUS g.162864415C>T g.162443383C>T - - PARK2_000006 - PubMed: Oliveira 2003 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Oliveira 2003 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
-/. - c.101A>G r.(?) p.(Gln34Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.101del r.(?) p.(Gln34Argfs*10) Unknown - pathogenic g.162864412del g.162443380del 101delA - PARK2_000008 - PubMed: Nisipeanu 2001 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Nisipeanu 2001 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2 c.101del r.(?) p.(Gln34Argfs*10) Unknown - pathogenic g.162864412del g.162443380del 101delA - PARK2_000008 - PubMed: Munoz 2002 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Munoz 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5) - PARK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5) - PARK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.101_102del r.(?) p.(Gln34Argfs*5) Unknown - pathogenic g.162864411_162864412del g.162443379_162443380del 101_102delAG - PARK2_000007 - PubMed: Abbas 1999 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Abbas 1999 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
?/. - c.110C>T r.(?) p.(Pro37Leu) Unknown - VUS g.162864403G>A g.162443371G>A PARK2(NM_004562.2):c.110C>T (p.P37L) - PARK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.110C>T r.(?) p.(Pro37Leu) Unknown - VUS g.162864403G>A g.162443371G>A - - PARK2_000009 - PubMed: Kann 2002 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Kann 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.125G>C r.(?) p.(Arg42Pro) Unknown - VUS g.162864388C>G g.162443356C>G - - PARK2_000010 - PubMed: Terreni 2001 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Terreni 2001 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
-/. - c.136G>A r.(?) p.(Ala46Thr) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. 2 c.136G>C r.(?) p.(Ala46Pro) Unknown - VUS g.162864377C>G g.162443345C>G - - PARK2_000011 - PubMed: Xu 2002 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Xu 2002 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ 2 c.154_155del r.(?) p.(Asn52*) Unknown - pathogenic g.162864358_162864359del g.162443326_162443327del 154_155delAA - PARK2_000012 - PubMed: Abbas 1999 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Abbas 1999 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
+/. - c.155del r.(?) p.(Asn52MetfsTer29) Unknown - pathogenic g.162864359del g.162443327del PARK2(NM_004562.2):c.155delA (p.N52Mfs*29) - PARK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.155del r.(?) p.(Asn52Metfs*29) Unknown - pathogenic g.162864358del g.162443327del 154delA - PARK2_000013 - PubMed: Abbas 1999 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Abbas 1999 - - - - - - 0 - - 1 The Parkinson's Institute - Birgitt Schuele
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