Full data view for gene PINK1

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_032409.2 transcript reference sequence.

144 entries on 2 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.-419301_*1913226del r.? p.? Unknown - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.-28_-20del r.(?) p.(=) Unknown - likely benign g.20960014_20960022del g.20633521_20633529del PINK1(NM_032409.2):c.-28_-20delTGCGGGGGC - PINK1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5i_8_ c.1123+1247_*820{0} r.spl p.? Unknown - pathogenic g.? g.20646970_20651572del c.1124-1535_(*881)del - PINK1_000042 - PubMed: Li 2005 - - Germline - - - 0 - DNA PCRq - - PARK - PubMed: Li 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/+ 1 c.70_101del r.(?) p.(Lys24Glyfs*31) Unknown - pathogenic g.20960111_20960142del g.20633618_20633649del - - PINK1_000001 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-/. - c.189C>T r.(?) p.(Leu63=) Unknown - benign g.20960230C>T g.20633737C>T PINK1(NM_032409.2):c.189C>T (p.L63=) - PINK1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Leu63=) Unknown - benign g.20960230C>T g.20633737C>T PINK1(NM_032409.2):c.189C>T (p.L63=) - PINK1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.203_204delinsCT r.(?) p.(Arg68Pro) Unknown - VUS g.20960244_20960245delinsCT g.20633751_20633752delinsCT - - PINK1_000002 - PubMed: Valente 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Valente 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.241T>C r.(?) p.(Leu81=) Unknown - likely benign g.20960282T>C g.20633789T>C PINK1(NM_032409.2):c.241T>C (p.L81=) - PINK1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.275G>T r.(?) p.(Cys92Phe) Unknown - VUS g.20960316G>T g.20633823G>T - - PINK1_000003 - PubMed: Valente 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Valente 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 1 c.292C>T r.(?) p.(Arg98Trp) Unknown - VUS g.20960333C>T g.20633840C>T - - PINK1_000043 - PubMed: Marongiu 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Marongiu 2008 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/. - c.326del r.(?) p.(Gly109AlafsTer49) Unknown - pathogenic g.20960367del g.20633874del PINK1(NM_032409.2):c.326delG (p.G109Afs*49) - PINK1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.332T>G r.(?) p.(Ile111Ser) Unknown - VUS g.20960373T>G g.20633880T>G - - PINK1_000044 - PubMed: Marongiu 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Marongiu 2008 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.344A>T r.(?) p.(Gln115Leu) Unknown - likely benign g.20960385A>T g.20633892A>T PINK1(NM_032409.2):c.344A>T (p.Q115L) - PINK1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.344A>T r.(?) p.(Gln115Leu) Unknown - benign g.20960385A>T g.20633892A>T PINK1(NM_032409.2):c.344A>T (p.Q115L) - PINK1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.373T>G r.(?) p.(Cys125Gly) Unknown - VUS g.20960414T>G g.20633921T>G - - PINK1_000004 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.387+20A>G r.(=) p.(=) Unknown - likely benign g.20960448A>G g.20633955A>G PINK1(NM_032409.2):c.387+20A>G - PINK1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-65C>G r.(=) p.(=) Unknown - benign g.20964270C>G g.20637777C>G PINK1(NM_032409.2):c.388-65C>G - PINK1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-65_388-64del r.(=) p.(=) Unknown - benign g.20964270_20964271del g.20637777_20637778del PINK1(NM_032409.2):c.388-65_388-64delCT - PINK1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-7A>G r.(=) p.(=) Unknown - benign g.20964328A>G g.20637835A>G PINK1(NM_032409.2):c.388-7A>G - PINK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-7A>G r.(=) p.(=) Unknown - benign g.20964328A>G g.20637835A>G PINK1(NM_032409.2):c.388-7A>G - PINK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-7A>G r.(=) p.(=) Unknown - benign g.20964328A>G g.20637835A>G PINK1(NM_032409.2):c.388-7A>G - PINK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.434C>T r.(?) p.(Thr145Met) Unknown - VUS g.20964381C>T g.20637888C>T PINK1(NM_032409.2):c.434C>T (p.T145M) - PINK1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.434C>T r.(?) p.(Thr145Met) Unknown - likely benign g.20964381C>T g.20637888C>T PINK1(NM_032409.2):c.434C>T (p.T145M) - PINK1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.440G>A r.(?) p.(Arg147His) Unknown - VUS g.20964387G>A g.20637894G>A - - PINK1_000005 - PubMed: Healy 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Healy 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/. - c.502G>C r.(?) p.(Ala168Pro) Unknown - pathogenic g.20964449G>C g.20637956G>C PINK1(NM_032409.2):c.502G>C (p.A168P) - PINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.502G>C r.(?) p.(Ala168Pro) Unknown - VUS g.20964449G>C g.20637956G>C - - PINK1_000006 - PubMed: Bonifati 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Bonifati 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.502G>C r.(?) p.(Ala168Pro) Unknown - VUS g.20964449G>C g.20637956G>C - - PINK1_000006 - PubMed: Valente 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Valente 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.558G>C r.(?) p.(Lys186Asn) Unknown - VUS g.20964505G>C g.20638012G>C - - PINK1_000047 - PubMed: Djarmati 2006 - - Germline - 2 - 0 - DNA SEQ - - PARK - PubMed: Djarmati 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.565G>A r.(?) p.(Gly189Arg) Unknown - likely benign g.20964512G>A g.20638019G>A PINK1(NM_032409.2):c.565G>A (p.G189R) - PINK1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.577G>A r.(?) p.G193R Unknown - VUS g.20964524G>A - - - PINK1_000046 - PubMed: Weng 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Weng 2007 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. - c.587C>T r.(?) p.(Pro196Leu) Unknown - VUS g.20964534C>T g.20638041C>T PINK1(NM_032409.2):c.587C>T (p.P196L) - PINK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.587C>T r.(?) p.(Pro196Leu) Unknown - VUS g.20964534C>T g.20638041C>T PINK1(NM_032409.2):c.587C>T (p.P196L) - PINK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.587C>T r.(?) p.(Pro196Leu) Unknown - VUS g.20964534C>T g.20638041C>T - - PINK1_000007 - PubMed: Bonifati 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Bonifati 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.626C>T r.(?) p.(Pro209Leu) Unknown - VUS g.20964573C>T g.20638080C>T - - PINK1_000048 - PubMed: Djarmati 2006 - - Germline - 1 - 0 - DNA SEQ - - PARK - PubMed: Djarmati 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 2 c.650C>A r.(?) p.(Ala217Asp) Unknown - VUS g.20964597C>A g.20638104C>A - - PINK1_000045 - PubMed: Leutenegger 2006 - - Germline - 8 - 0 - DNA SEQ - - PARK - PubMed: Leutenegger 2006 - - - Sudan - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 3 c.692A>G r.(?) p.(Glu231Gly) Unknown - VUS g.20966401A>G g.20639908A>G - - PINK1_000008 - PubMed: Bonifati 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Bonifati 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. - c.701T>C r.(?) p.(Leu234Ser) Unknown - VUS g.20966410T>C g.20639917T>C PINK1(NM_032409.2):c.701T>C (p.L234S) - PINK1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709A>G r.(?) p.(Met237Val) Unknown - VUS g.20966418A>G g.20639925A>G PINK1(NM_032409.2):c.709A>G (p.M237V) - PINK1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.709A>G r.(?) p.(Met237Val) Unknown - VUS g.20966418A>G g.20639925A>G PINK1(NM_032409.2):c.709A>G (p.M237V) - PINK1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.715C>T r.(?) p.(Gln239*) Unknown - pathogenic g.20966424C>T g.20639931C>T - - PINK1_000009 - PubMed: Hatano 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Hatano 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 3 c.718G>A r.(?) p.(Glu240Lys) Unknown - VUS g.20966427G>A g.20639934G>A - - PINK1_000010 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 3 c.718G>A r.(?) p.(Glu240Lys) Unknown - VUS g.20966427G>A g.20639934G>A - - PINK1_000010 - PubMed: Rogaeva 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Rogaeva 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.736C>T r.(?) p.(Arg246*) Unknown - pathogenic g.20966445C>T g.20639952C>T - - PINK1_000011 - PubMed: Hatano 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Hatano 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.736C>T r.(?) p.(Arg246*) Unknown - pathogenic g.20966445C>T g.20639952C>T - - PINK1_000011 - PubMed: Tan 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.774C>A r.(?) p.(Tyr258*) Unknown - pathogenic g.20966483C>A g.20639990C>A - - PINK1_000012 - PubMed: Tan 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.776+10C>T r.(=) p.(=) Unknown - likely benign g.20966495C>T g.20640002C>T PINK1(NM_032409.2):c.776+10C>T - PINK1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.802C>G r.(?) p.(Leu268Val) Unknown - VUS g.20971008C>G g.20644515C>G - - PINK1_000013 - PubMed: Tan 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.813C>A r.(?) p.(His271Gln) Unknown - VUS g.20971019C>A g.20644526C>A - - PINK1_000014 - PubMed: Hatano 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Hatano 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.836G>A r.(?) p.(Arg279His) Unknown - VUS g.20971042G>A g.20644549G>A - - PINK1_000015 - PubMed: Klein 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Klein 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.838G>A r.(?) p.(Ala280Thr) Unknown - VUS g.20971044G>A g.20644551G>A - - PINK1_000016 - PubMed: Tan 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.887C>T r.(?) p.(Pro296Leu) Unknown - VUS g.20971093C>T g.20644600C>T - - PINK1_000017 - PubMed: Valente 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Valente 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+/+ 4 c.889del r.(?) p.(Asp297Metfs*22) Unknown - pathogenic g.20971095del g.20644602del - - PINK1_000049 - PubMed: Savettieri 2008 - - Germline - 2 - 0 - DNA SEQ - - PARK - PubMed: Savettieri 2008 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.926G>A r.(?) p.(Gly309Asp) Unknown - VUS g.20971132G>A g.20644639G>A - - PINK1_000018 - PubMed: Valente 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Valente 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.936G>A r.(?) p.(Arg312=) Unknown - likely benign g.20971142G>A g.20644649G>A PINK1(NM_032409.2):c.936G>A (p.R312=) - PINK1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.938C>T r.(?) p.(Thr313Met) Parent #1 - pathogenic g.20971144C>T g.20644651C>T - - PINK1_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74315359 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. 4 c.938C>T r.(?) p.(Thr313Met) Unknown - VUS g.20971144C>T g.20644651C>T - - PINK1_000051 - PubMed: Christi 2006 - - Germline - 2 - 0 - DNA SEQ - - PARK - PubMed: Christi 2006 13 heterozygous was not affected - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 4 c.949G>A r.(?) p.(Val317Ile) Unknown - VUS g.20971155G>A g.20644662G>A - - PINK1_000050 - PubMed: Tan 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2007 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. - c.952A>T r.(?) p.(Met318Leu) Unknown - VUS g.20971158A>T g.20644665A>T PINK1(NM_032409.2):c.952A>T (p.M318L) - PINK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.952A>T r.(?) p.(Met318Leu) Unknown - VUS g.20971158A>T g.20644665A>T - - PINK1_000019 - PubMed: Bonifati 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Bonifati 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-/. - c.960-424G>A r.(=) p.(=) Unknown - benign g.20971629G>A g.20645136G>A PINK1(NM_032409.2):c.960-424G>A - PINK1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.960-142G>C r.(=) p.(=) Unknown - benign g.20971911G>C g.20645418G>C PINK1(NM_032409.2):c.960-142G>C - PINK1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.960-56dup r.(=) p.(=) Unknown - benign g.20971997dup g.20645504dup PINK1(NM_032409.2):c.960-56dupA - PINK1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960-11C>T r.(=) p.(=) Unknown - likely benign g.20972042C>T g.20645549C>T PINK1(NM_032409.2):c.960-11C>T - PINK1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.960-10T>C r.(=) p.(=) Unknown - likely benign g.20972043T>C g.20645550T>C PINK1(NM_032409.2):c.960-10T>C - PINK1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.960-5G>A r.spl? p.? Unknown - benign g.20972048G>A g.20645555G>A PINK1(NM_032409.2):c.960-5G>A - PINK1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.960-5G>A r.spl? p.? Unknown - benign g.20972048G>A g.20645555G>A PINK1(NM_032409.2):c.960-5G>A - PINK1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.960-5G>A r.spl? p.? Unknown - benign g.20972048G>A g.20645555G>A PINK1(NM_032409.2):c.960-5G>A - PINK1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.965C>T r.(?) p.(Pro322Leu) Unknown - VUS g.20972058C>T g.20645565C>T - - PINK1_000052 - PubMed: Marongiu 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Marongiu 2008 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. - c.1015G>A r.(?) p.(Ala339Thr) Unknown - VUS g.20972108G>A g.20645615G>A PINK1(NM_032409.2):c.1015G>A (p.A339T) - PINK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1015G>A r.(?) p.(Ala339Thr) Parent #1 - VUS g.20972108G>A g.20645615G>A - - PINK1_000020 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55831733 Germline - 16/2699 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 16 Mohammed Faruq
?/. 5 c.1015G>A r.(?) p.(Ala339Thr) Unknown - VUS g.20972108G>A g.20645615G>A - - PINK1_000020 - PubMed: Bonifati 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Bonifati 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-/. - c.1018G>A r.(?) p.(Ala340Thr) Unknown - benign g.20972111G>A g.20645618G>A PINK1(NM_032409.2):c.1018G>A (p.A340T) - PINK1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1018G>A r.(?) p.(Ala340Thr) Unknown - benign g.20972111G>A g.20645618G>A PINK1(NM_032409.2):c.1018G>A (p.A340T) - PINK1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.1018G>A r.(?) p.(Ala340Thr) Unknown - VUS g.20972111G>A g.20645618G>A - - PINK1_000053 - PubMed: Weng 2007 - - Germline - 2 - 0 - DNA SEQ - - PARK - PubMed: Weng 2007 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.1021A>G r.(?) p.(Met341Val) Unknown - likely benign g.20972114A>G g.20645621A>G PINK1(NM_032409.2):c.1021A>G (p.M341V) - PINK1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1040T>C r.(?) p.(Leu347Pro) Unknown - pathogenic g.20972133T>C g.20645640T>C PINK1(NM_032409.2):c.1040T>C (p.L347P) - PINK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.1040T>C r.(?) p.(Leu347Pro) Unknown - VUS g.20972133T>C g.20645640T>C - - PINK1_000021 - PubMed: Hatano 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Hatano 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 5 c.1040T>C r.(?) p.(Leu347Pro) Unknown - VUS g.20972133T>C g.20645640T>C - - PINK1_000021 - PubMed: Rogaeva 2004 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Rogaeva 2004 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 5 c.1106T>C r.(?) p.(Leu369Pro) Unknown - VUS g.20972199T>C g.20645706T>C - - PINK1_000022 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-/. - c.1123+91_1123+104del r.(=) p.(=) Unknown - benign g.20972307_20972320del g.20645814_20645827del PINK1(NM_032409.2):c.1123+91_1123+104delTTTGTGTTCTAAGT - PINK1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1123+124G>A r.(=) p.(=) Unknown - benign g.20972340G>A g.20645847G>A PINK1(NM_032409.2):c.1123+124G>A - PINK1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1123+161del r.(=) p.(=) Unknown - benign g.20972377del g.20645884del PINK1(NM_032409.2):c.1123+161delG - PINK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1124-196A>G r.(=) p.(=) Unknown - benign g.20974802A>G g.20648309A>G PINK1(NM_032409.2):c.1124-196A>G - PINK1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1125C>T r.(?) p.(Asp375=) Unknown - likely benign g.20974999C>T g.20648506C>T PINK1(NM_032409.2):c.1125C>T (p.D375=) - PINK1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1147G>A r.(?) p.(Ala383Thr) Unknown - likely benign g.20975021G>A g.20648528G>A PINK1(NM_032409.2):c.1147G>A (p.A383T) - PINK1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.1147G>A r.(?) p.(Ala383Thr) Unknown - VUS g.20975021G>A g.20648528G>A - - PINK1_000055 - PubMed: Tan 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2007 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1157G>C r.(?) p.(Gly386Ala) Unknown - VUS g.20975031G>C g.20648538G>C - - PINK1_000023 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
+?/. - c.1162T>C r.(?) p.(Cys388Arg) Both (homozygous) - likely pathogenic g.20975036T>C g.20648543T>C - - PINK1_000024 - - - - Germline - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
?/. 6 c.1162T>C r.(?) p.(Cys388Arg) Unknown - VUS g.20975036T>C - 1163T>C - PINK1_000024 - PubMed: Li 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Li 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1184G>T r.(?) p.(Gly395Val) Unknown - VUS g.20975058G>T g.20648565G>T - - PINK1_000054 - PubMed: Marongiu 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Marongiu 2008 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. - c.1196C>T r.(?) p.(Pro399Leu) Parent #1 - VUS g.20975070C>T g.20648577C>T - - PINK1_000025 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119451946 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
?/. 6 c.1196C>T r.(?) p.(Pro399Leu) Unknown - VUS g.20975070C>T g.20648577C>T - - PINK1_000025 - PubMed: Tang 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tang 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1196C>T r.(?) p.(Pro399Leu) Unknown - VUS g.20975070C>T g.20648577C>T - - PINK1_000025 combined with PINK1:P399L PubMed: Tang 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tang 2006 family, two affected siblings - - China - - 0 - - 2 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1220G>A r.(?) p.(Arg407Gln) Unknown - VUS g.20975094G>A g.20648601G>A - - PINK1_000026 - PubMed: Fung 2005 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Fung 2005 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1226G>T r.(?) p.(Gly409Val) Unknown - VUS g.20975100G>T g.20648607G>T - - PINK1_000027 - PubMed: Ibanez 2006 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Ibanez 2006 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
-?/. - c.1231G>A r.(?) p.(Gly411Ser) Unknown - likely benign g.20975105G>A g.20648612G>A PINK1(NM_032409.2):c.1231G>A (p.G411S) - PINK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1231G>A r.(?) p.(Gly411Ser) Unknown - likely benign g.20975105G>A g.20648612G>A PINK1(NM_032409.2):c.1231G>A (p.G411S) - PINK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1231G>A r.(?) p.(Gly411Ser) Unknown - VUS g.20975105G>A g.20648612G>A - - PINK1_000056 - PubMed: Mellick 2008 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Mellick 2008 1 het - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1231G>A r.(?) p.(Gly411Ser) Unknown - VUS g.20975105G>A g.20648612G>A - - PINK1_000056 - PubMed: Tan 2007 - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Tan 2007 - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
?/. 6 c.1231G>A r.(?) p.(Gly411Ser) Unknown - VUS g.20975105G>A g.20648612G>A - - PINK1_000056 - PubMed: Zadikoff - - Germline - - - 0 - DNA SEQ - - PARK - PubMed: Zadikoff - - - - - - 0 - - 0 The Parkinson's Institute - Birgitt Schuele
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