Full data view for gene TH

Information The variants shown are described using the transcript reference sequence.

186 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     
+/. _1 c.-71C>T r.? p.? Parent #2 - pathogenic (recessive) g.2193087G>A g.2171857G>A c.-71C>T - TH_000081 variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression PubMed: Verbeek 2007 - - Germline - - - - - DNA SEQ - - DYT Fam2Pat1 PubMed: Verbeek 2007 - M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.-71C>T r.(?) p.(=) Unknown - pathogenic g.2193087G>A - - - TH_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.-70G>A r.? p.? Both (homozygous) - pathogenic (recessive) g.2193086C>T g.2171856C>T c.-70G>A - TH_000080 variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression PubMed: Verbeek 2007 - - Germline - - - - - DNA SEQ - - DYT Fam3Pat1/2 PubMed: Verbeek 2007 2-generation family, affected brother/sister F;M yes Turkey - - - - - 2 Johan den Dunnen
+/. _1 c.-70G>A r.? p.? Both (homozygous) - pathogenic (recessive) g.2193086C>T g.2171856C>T c.-70G>A - TH_000080 variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression PubMed: Verbeek 2007 - - Germline - - - - - DNA SEQ - - DYT Fam4Pat1/2 PubMed: Verbeek 2007 2-generation family, affected brother/sister F;M yes Lebanon - - - - - 2 Johan den Dunnen
+/. _1 c.-70G>A r.? p.? Parent #2 - pathogenic (recessive) g.2193086C>T g.2171856C>T c.-70G>A - TH_000080 variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression PubMed: Verbeek 2007 - - Germline - - - - - DNA SEQ - - DYT Fam5Pat1 PubMed: Verbeek 2007 - M no Fiji;India - - - - - 1 Johan den Dunnen
+/. _1 c.-69T>A r.? p.? Both (homozygous) - pathogenic (recessive) g.2193085A>T g.2171855A>T c.-69T>A - TH_000079 variant in conserved consensus sequence cAMP response element predicted to reduce mRNA expression PubMed: Verbeek 2007 - - Germline - - - - - DNA SEQ - - DYT Fam1Pat1 PubMed: Verbeek 2007 - M yes Italy - - - - - 1 Johan den Dunnen
?/. - c.5C>T r.(?) p.(Pro2Leu) Unknown - VUS g.2193012G>A g.2171782G>A TH(NM_199292.2):c.5C>T (p.P2L) - TH_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12C>T r.(?) p.(Pro4=) Unknown - likely benign g.2193005G>A g.2171775G>A TH(NM_199292.2):c.12C>T (p.P4=) - TH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16G>A r.(?) p.(Ala6Thr) Unknown - likely benign g.2193001C>T g.2171771C>T TH(NM_199292.2):c.16G>A (p.A6T), TH(NM_199292.3):c.16G>A (p.A6T) - TH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16G>A r.(?) p.(Ala6Thr) Unknown - benign g.2193001C>T g.2171771C>T TH(NM_199292.2):c.16G>A (p.A6T), TH(NM_199292.3):c.16G>A (p.A6T) - TH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35del r.(?) p.(Lys12Argfs*20) Unknown - pathogenic g.2192983del - - - TH_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43C>T r.(?) p.(Arg15Cys) Unknown - VUS g.2192974G>A g.2171744G>A TH(NM_199292.2):c.43C>T (p.R15C) - TH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44G>A r.(?) p.(Arg15His) Unknown - VUS g.2192973C>T - TH(NM_000360.4):c.44G>A (p.(Arg15His)) - TH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - likely benign g.2192950C>T g.2171720C>T TH(NM_000360.4):c.67G>A (p.(Ala23Thr)), TH(NM_199292.2):c.67G>A (p.A23T) - TH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Ala23Thr) Unknown - VUS g.2192950C>T - TH(NM_000360.4):c.67G>A (p.(Ala23Thr)), TH(NM_199292.2):c.67G>A (p.A23T) - TH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81G>T r.(?) p.(Glu27Asp) Unknown - VUS g.2192936C>A g.2171706C>A TH(NM_199292.3):c.81G>T (p.E27D) - TH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.102+1G>A r.spl? p.? Unknown - likely pathogenic g.2192914C>T - TH(NM_199292.3):c.102+1G>A - TH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106G>A r.(?) p.(Ala36Thr) Unknown - likely benign g.2191997C>T g.2170767C>T TH(NM_199292.2):c.106G>A (p.A36T) - TH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124A>C r.(?) p.(Thr42Pro) Unknown - VUS g.2191979T>G g.2170749T>G TH(NM_199292.3):c.124A>C (p.T42P) - TH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134C>T r.(?) p.(Pro45Leu) Unknown - likely benign g.2191969G>A g.2170739G>A TH(NM_199292.2):c.134C>T (p.P45L) - TH_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197T>C r.(?) p.(Ile66Thr) Unknown - likely benign g.2191088A>G g.2169858A>G TH(NM_199292.2):c.197T>C (p.I66T), TH(NM_199292.3):c.197T>C (p.I66T) - TH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197T>C r.(?) p.(Ile66Thr) Unknown - likely benign g.2191088A>G g.2169858A>G TH(NM_199292.2):c.197T>C (p.I66T), TH(NM_199292.3):c.197T>C (p.I66T) - TH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Cys) Unknown - VUS g.2191083G>A g.2169853G>A - - TH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295del r.(?) p.(Leu99TrpfsTer15) Unknown - pathogenic g.2190994del g.2169764del - - TH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.295del r.(?) p.(Leu99Trpfs*15) Parent #2 - pathogenic (recessive) g.2190994del g.2169764del 291delC - TH_000044 - PubMed: Brautigam 1998, PubMed: Wevers 1999 - - Germline - - - - - DNA SEQ, SSCA - - DYT PatI PubMed: Brautigam 1998, PubMed: Wevers 1999 parents M no Netherlands - - - - - 1 Johan den Dunnen
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.2190969C>T - TH(NM_000360.4):c.223G>A (p.(Glu75Lys)) - TH_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324G>C r.(?) p.(Glu108Asp) Unknown - likely benign g.2190961C>G g.2169731C>G TH(NM_199292.2):c.324G>C (p.E108D) - TH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334G>A r.(?) p.(Val112Met) Unknown - benign g.2190951C>T g.2169721C>T TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M) - TH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334G>A r.(?) p.(Val112Met) Unknown - benign g.2190951C>T g.2169721C>T TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M) - TH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334G>A r.(?) p.(Val112Met) Unknown - benign g.2190951C>T g.2169721C>T TH(NM_199292.2):c.334G>A (p.V112M), TH(NM_199292.3):c.334G>A (p.V112M) - TH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.334G>A r.(?) p.(Val112Met) Both (homozygous) - benign g.2190951C>T - V112M - TH_000027 - PubMed: Brautigam 1999 - - Germline - - - - - DNA SEQ, SSCA - - ? patient PubMed: Brautigam 1999 - M yes Italy - - - - - 1 Johan den Dunnen
-?/. - c.357G>A r.(?) p.(Pro119=) Unknown - likely benign g.2190928C>T - TH(NM_199292.2):c.357G>A (p.P119=) - TH_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360G>A r.(?) p.(Arg120=) Unknown - likely benign g.2190925C>T g.2169695C>T TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=) - TH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360G>A r.(?) p.(Arg120=) Unknown - likely benign g.2190925C>T g.2169695C>T TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=) - TH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360G>A r.(?) p.(Arg120=) Unknown - likely benign g.2190925C>T g.2169695C>T TH(NM_199292.2):c.360G>A (p.R120=), TH(NM_199292.3):c.360G>A (p.R120=) - TH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>A r.(?) p.(Arg129Gln) Unknown - VUS g.2190899C>T - TH(NM_199292.3):c.386G>A (p.R129Q) - TH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397G>T r.(?) p.(Val133Leu) Unknown - likely benign g.2190888C>A g.2169658C>A TH(NM_199292.2):c.397G>T (p.V133L) - TH_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406-9C>T r.(=) p.(=) Unknown - likely benign g.2189904G>A g.2168674G>A TH(NM_199292.3):c.406-9C>T - TH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.406-3A>G r.spl p.? Parent #1 - VUS g.2189898T>C g.2168668T>C - - TH_000069 - PubMed: Ganapathy 2019 - rs747848885 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2482 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.458G>A r.(?) p.(Arg153Gln) Unknown - likely benign g.2189843C>T g.2168613C>T TH(NM_199292.3):c.458G>A (p.R153Q) - TH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.484T>G r.(?) p.(Phe162Val) Unknown - VUS g.2189817A>C g.2168587A>C TH(NM_199292.2):c.484T>G (p.F162V), TH(NM_199292.3):c.484T>G (p.F162V) - TH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.484T>G r.(?) p.(Phe162Val) Unknown - VUS g.2189817A>C g.2168587A>C TH(NM_199292.2):c.484T>G (p.F162V), TH(NM_199292.3):c.484T>G (p.F162V) - TH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Val163Met) Unknown - VUS g.2189814C>T g.2168584C>T TH(NM_000360.4):c.394G>A (p.(Val132Met)), TH(NM_199292.2):c.487G>A (p.V163M) - TH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Val163Met) Unknown - VUS g.2189814C>T - TH(NM_000360.4):c.394G>A (p.(Val132Met)), TH(NM_199292.2):c.487G>A (p.V163M) - TH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>T r.(?) p.(Val163Leu) Unknown - VUS g.2189814C>A - TH(NM_199292.2):c.487G>T (p.V163L) - TH_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499G>A r.(?) p.(Val167Met) Unknown - VUS g.2189802C>T g.2168572C>T TH(NM_199292.2):c.499G>A (p.V167M), TH(NM_199292.3):c.499G>A (p.V167M) - TH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499G>A r.(?) p.(Val167Met) Unknown - VUS g.2189802C>T g.2168572C>T TH(NM_199292.2):c.499G>A (p.V167M), TH(NM_199292.3):c.499G>A (p.V167M) - TH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580+3G>A r.spl? p.? Unknown - likely benign g.2189718C>T g.2168488C>T TH(NM_199292.3):c.580+3G>A - TH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581-4A>G r.spl? p.? Unknown - likely benign g.2189413T>C g.2168183T>C TH(NM_199292.3):c.581-4A>G - TH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625C>T r.(?) p.(His209Tyr) Unknown - VUS g.2189365G>A - TH(NM_199292.2):c.625C>T (p.H209Y) - TH_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669G>A r.(?) p.(Pro223=) Unknown - likely benign g.2189321C>T g.2168091C>T TH(NM_199292.3):c.669G>A (p.P223=) - TH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669+6_669+14del r.(=) p.(=) Unknown - likely benign g.2189307_2189315del g.2168077_2168085del TH(NM_199292.2):c.669+6_669+14delTGGTGCGCC - TH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669+13C>T r.(=) p.(=) Unknown - likely benign g.2189308G>A g.2168078G>A TH(NM_199292.3):c.669+13C>T - TH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670-22C>G r.(=) p.(=) Unknown - likely benign g.2189185G>C g.2167955G>C TH(NM_199292.2):c.670-22C>G - TH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.670-22C>T r.(=) p.(=) Unknown - benign g.2189185G>A g.2167955G>A - - TH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.675C>A r.(?) p.(Phe225Leu) Unknown - VUS g.2189158G>T - TH(NM_199292.2):c.675C>A (p.F225L) - TH_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677C>T r.(?) p.(Ser226Leu) Unknown - VUS g.2189156G>A - TH(NM_000360.4):c.584C>T (p.(Ser195Leu)) - TH_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687G>T r.(?) p.(Val229=) Unknown - likely benign g.2189146C>A g.2167916C>A TH(NM_199292.2):c.687G>T (p.V229=) - TH_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.698G>A r.(?) p.(Arg233His) Unknown - VUS g.2189135C>T g.2167905C>T TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H) - TH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698G>A r.(?) p.(Arg233His) Unknown - pathogenic g.2189135C>T g.2167905C>T TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H) - TH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698G>A r.(?) p.(Arg233His) Unknown - likely pathogenic g.2189135C>T g.2167905C>T TH(NM_199292.2):c.698G>A (p.R233H), TH(NM_199292.3):c.698G>A (p.R233H) - TH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698G>A r.(?) p.(Arg233His) Parent #1 - pathogenic g.2189135C>T g.2167905C>T - - TH_000036 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338892 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Van Den Heuvel 1998 - - Germline - - - - - DNA SEQ, SSCA - - DYT Fam1 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Van Den Heuvel 1998 - - Germline - - - - - DNA SEQ, SSCA - - DYT Fam2 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Van Den Heuvel 1998 - - Germline - - - - - DNA SEQ, SSCA - - DYT Fam3 PubMed: Van Den Heuvel 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Brautigam 1998, PubMed: Wevers 1999 - - Germline - - - - - DNA SEQ, SSCA - - DYT PatII PubMed: Brautigam 1998, PubMed: Wevers 1999 parents F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Brautigam 1998, PubMed: Wevers 1999 - - Germline - - - - - DNA SEQ, SSCA - - DYT PatIII PubMed: Brautigam 1998, PubMed: Wevers 1999 parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Brautigam 1998, PubMed: Wevers 1999 - - Germline - - - - - DNA SEQ, SSCA - - DYT PatIV PubMed: Brautigam 1998, PubMed: Wevers 1999 parents F no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Parent #1 - pathogenic (recessive) g.2189135C>T - g698a (Arg233His) - TH_000036 - PubMed: Brautigam 1998, PubMed: Wevers 1999 - - Germline - - - - - DNA SEQ, SSCA - - DYT PatI PubMed: Brautigam 1998, PubMed: Wevers 1999 parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(698g>a) p.(Arg233His) Maternal (confirmed) - pathogenic (recessive) g.2189135C>T - 698G>A - TH_000036 - PubMed: Janssen 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - ? fa PubMed: Janssen 2000 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Germany white - - - - 1 Johan den Dunnen
+/. - c.698G>A r.(?) p.(Arg233His) Both (homozygous) - pathogenic (recessive) g.2189135C>T - - - TH_000036 - PubMed: Najmabadi 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID Fam8600041 PubMed: Najmabadi 2011 family, 3 affected sibs - yes Iran - - - - - 3 Johan den Dunnen
+/. - c.707T>C r.(?) p.(Leu236Pro) Unknown - pathogenic g.2189126A>G g.2167896A>G - - TH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.707T>C r.(?) p.(Leu236Pro) Both (homozygous) - pathogenic (recessive) g.2189126A>G - - - TH_000035 - PubMed: Ludecke 1996 - - Germline - - - - - DNA SEQ - - PARK patient PubMed: Ludecke 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Greece - - - - - 1 Johan den Dunnen
?/. - c.709A>C r.(?) p.(Ile237Leu) Unknown - VUS g.2189124T>G g.2167894T>G TH(NM_199292.3):c.709A>C (p.I237L) - TH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.728A>C r.(?) p.(Gln243Pro) Unknown - likely pathogenic g.2189105T>G g.2167875T>G - - TH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737+15C>A r.(=) p.(=) Unknown - likely benign g.2189081G>T g.2167851G>T TH(NM_199292.2):c.737+15C>A - TH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738C>T r.(?) p.(His246=) Unknown - likely benign g.2188715G>A g.2167485G>A TH(NM_199292.2):c.738C>T (p.H246=) - TH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739G>A r.(?) p.(Gly247Ser) Unknown - VUS g.2188714C>T - TH(NM_199292.2):c.739G>A (p.G247S) - TH_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.772G>A r.(?) p.(Glu258Lys) Both (homozygous) - VUS g.2188681C>T g.2167451C>T - - TH_000001 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - DYT5 Pat20 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
-?/. - c.777G>A r.(?) p.(Glu259=) Unknown - likely benign g.2188676C>T g.2167446C>T TH(NM_199292.2):c.777G>A (p.E259=), TH(NM_199292.3):c.777G>A (p.E259=) - TH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777G>A r.(?) p.(Glu259=) Unknown - likely benign g.2188676C>T g.2167446C>T TH(NM_199292.2):c.777G>A (p.E259=), TH(NM_199292.3):c.777G>A (p.E259=) - TH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789-3C>T r.spl? p.? Unknown - likely benign g.2188265G>A g.2167035G>A TH(NM_199292.2):c.789-3C>T - TH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813G>A r.(?) p.(Lys271=) Unknown - benign g.2188238C>T g.2167008C>T TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=) - TH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813G>A r.(?) p.(Lys271=) Unknown - benign g.2188238C>T g.2167008C>T TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=) - TH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.813G>A r.(?) p.(Lys271=) Unknown - benign g.2188238C>T g.2167008C>T TH(NM_199292.2):c.813G>A (p.K271=), TH(NM_199292.3):c.813G>A (p.K271=) - TH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.822C>A r.(?) p.(Tyr274*) Unknown - pathogenic g.2188229G>T - TH(NM_199292.3):c.822C>A (p.Y274*) - TH_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.826A>C r.(?) p.(Thr276Pro) Parent #1 - pathogenic (recessive) g.2188225T>G - 826A>C - TH_000074 - PubMed: Swaans 2000 - - Germline - - - - - DNA SEQ, SSCA - - DYT FamB PubMed: Swaans 2000 - M - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.880G>C r.(?) p.(Gly294Arg) Both (homozygous) ACMG likely pathogenic g.2188171C>G g.2166941C>G - - TH_000065 ACMG PS1, PM2, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 15DG1573 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. 8 c.919T>G r.(?) p.(Ser307Ala) Both (homozygous) - VUS g.2188132A>C g.2166902A>C - - TH_000068 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5861 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.941C>T r.(?) p.(Thr314Met) Parent #2 - pathogenic (recessive) g.2187992G>A - 941C>T - TH_000075 - PubMed: Swaans 2000 - - Germline - - - - - DNA SEQ, SSCA - - DYT FamB PubMed: Swaans 2000 - M - Belgium - - - - - 1 Johan den Dunnen
+/. - c.1010G>A r.(?) p.(Arg337His) Maternal (confirmed) - pathogenic (recessive) g.2187923C>T - 1010G>A - TH_000073 - PubMed: Swaans 2000 - - Germline yes - - - - DNA SEQ, SSCA - - DYT FamA PMID:Swaans 2000:11246459} 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - - - - - - - 2 Johan den Dunnen
?/. - c.1016T>G r.(?) p.(Phe339Cys) Unknown - VUS g.2187917A>C g.2166687A>C - - TH_000072 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - Segawa - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.1070+8C>G r.(=) p.(=) Unknown - benign g.2187855G>C g.2166625G>C TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G - TH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070+8C>G r.(=) p.(=) Unknown - benign g.2187855G>C g.2166625G>C TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G - TH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1070+8C>G r.(=) p.(=) Unknown - benign g.2187855G>C g.2166625G>C TH(NM_199292.2):c.1070+8C>G, TH(NM_199292.3):c.1070+8C>G - TH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1076G>T r.(?) p.(Cys359Phe) Both (homozygous) - pathogenic (recessive) g.2187774C>A - - - TH_000078 - PubMed: Brautigam 1999 - - Germline - - ItaI- - - DNA SEQ, SSCA - - ? patient PubMed: Brautigam 1999 - M yes Italy - - - - - 1 Johan den Dunnen
+/. - c.1108C>A r.(?) p.(Leu370Met) Parent #2 - pathogenic (recessive) g.2187742G>T - 1096G>T (Leu366Met) - TH_000061 - PubMed: Mahler 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat10 PubMed: Mahler 2019 2-generation family, several affected, unaffected heterozygous carrier parents - no Germany - - - - - 2 Johan den Dunnen
+/. - c.1125C>G r.(?) p.(Phe375Leu) Unknown - pathogenic g.2187725G>C g.2166495G>C - - TH_000087 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.1132T>G r.(?) p.(Phe378Val) Unknown - VUS g.2187718A>C - TH(NM_199292.3):c.1132T>G (p.F378V) - TH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1145T>C r.(?) p.(Ile382Thr) Parent #1 ACMG VUS (!) g.2187284A>G - p.(Ile351Thr) - TH_000066 ACMG: PM3, PM2_SUP, PP3, PP4 PMID: 22264700 VCV000553397.1 - Germline ? - - - - DNA SEQ-NG-I - - Segawa 178193 - - M ? Germany - - - - - 1 Andreas Laner
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