Full data view for gene TPP1

An NCL gene variant database
Information The variants shown are described using the NM_000391.3 transcript reference sequence.

1025 entries on 11 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.? r.? p.? Both (homozygous) - VUS g.? - - - DRD4_000002 - PubMed: Sun 2013 - - Germline - - - 0 - DNA SEQ - - CLN D_Sun_2013 PubMed: Sun 2013 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? Both (homozygous) - VUS g.? - - - DRD4_000002 - PubMed: Sun 2013 - - Germline - - - 0 - DNA SEQ - - CLN F_Sun_2013 PubMed: Sun 2013 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? Both (homozygous) - VUS g.? - - - DRD4_000002 - PubMed: Sun 2013 - - Germline - - - 0 - DNA SEQ - - CLN H_Sun_2013 PubMed: Sun 2013 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? Both (homozygous) - VUS g.? - - - DRD4_000002 - PubMed: Sun 2013 - - Germline - - - 0 - DNA SEQ - - CLN L_Sun_2013 PubMed: Sun 2013 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? Parent #1 - VUS g.? - - - DRD4_000002 - PubMed: Shen 2013 - - Germline - - - 0 - DNA SEQ - - CLN Pa-cln2.363 PubMed: Shen 2013 - - - China - - 0 - - 1 Sara Mole
?/. - c.? r.? p.? Parent #1 - VUS g.? - - - DRD4_000002 - Raymond Wang, USA - - Germline - - - 0 - DNA SEQ - - CLN C1 Raymond Wang, USA - - - United States - - 0 - - 1 Sara Mole
-?/. - c.-5004C>T r.(?) p.(=) Unknown - likely benign g.6645635G>A - DCHS1(NM_003737.4):c.7286-14C>T - DCHS1_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4894G>A r.(?) p.(=) Unknown - VUS g.6645525C>T g.6624294C>T DCHS1(NM_003737.2):c.7385G>A (p.R2462Q) - DCHS1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4891G>A r.(?) p.(=) Unknown - likely benign g.6645522C>T g.6624291C>T DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.3):c.7385G>A (p.R2462Q) - DCHS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-4891G>A r.(?) p.(=) Unknown - benign g.6645522C>T g.6624291C>T DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.3):c.7385G>A (p.R2462Q) - DCHS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4891G>A r.(?) p.(=) Unknown - VUS g.6645522C>T g.6624291C>T DCHS1(NM_003737.2):c.7385G>A (p.(Arg2462Gln)), DCHS1(NM_003737.2):c.7388G>A (p.G2463E), DCHS1(NM_003737.3):c.7385G>A (p.R2462Q) - DCHS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4837C>T r.(?) p.(=) Unknown - VUS g.6645468G>A g.6624237G>A DCHS1(NM_003737.2):c.7442C>T (p.T2481I) - DCHS1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4828C>T r.(?) p.(=) Unknown - likely benign g.6645459G>A g.6624228G>A DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L) - DCHS1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4828C>T r.(?) p.(=) Unknown - likely benign g.6645459G>A g.6624228G>A DCHS1(NM_003737.2):c.7448C>T (p.(Thr2483Ile)), DCHS1(NM_003737.2):c.7451C>T (p.S2484L) - DCHS1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4738G>A r.(?) p.(=) Unknown - likely benign g.6645369C>T g.6624138C>T DCHS1(NM_003737.2):c.7541G>A (p.S2514N) - DCHS1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-4667C>T r.(?) p.(=) Unknown - VUS g.6645298G>A - DCHS1(NM_003737.4):c.7609C>T (p.L2537=) - DCHS1_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4662T>G r.(?) p.(=) Unknown - benign g.6645293A>C g.6624062A>C DCHS1(NM_003737.3):c.7614T>G (p.A2538=) - DCHS1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-4578A>G r.(?) p.(=) Unknown - benign g.6645209T>C g.6623978T>C DCHS1(NM_003737.3):c.7698A>G (p.T2566=) - DCHS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-4477C>T r.(?) p.(=) Unknown - VUS g.6645108G>A g.6623877G>A DCHS1(NM_003737.2):c.7802C>T (p.A2601V) - DCHS1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4437G>A r.(?) p.(=) Unknown - benign g.6645068C>T g.6623837C>T DCHS1(NM_003737.3):c.7839G>A (p.E2613=) - DCHS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4233C>T r.(?) p.(=) Unknown - likely benign g.6644864G>A g.6623633G>A DCHS1(NM_003737.2):c.8046C>T (p.P2682=) - DCHS1_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4090A>T r.(?) p.(=) Unknown - VUS g.6644721T>A g.6623490T>A DCHS1(NM_003737.2):c.8189A>T (p.E2730V) - DCHS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-4090A>T r.(?) p.(=) Unknown - VUS g.6644721T>A g.6623490T>A DCHS1(NM_003737.2):c.8189A>T (p.E2730V) - DCHS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4083C>T r.(?) p.(=) Unknown - likely benign g.6644714G>A g.6623483G>A DCHS1(NM_003737.2):c.8196C>T (p.D2732=) - DCHS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4080C>T r.(?) p.(=) Unknown - likely benign g.6644711G>A g.6623480G>A DCHS1(NM_003737.2):c.8199C>T (p.G2733=) - DCHS1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4055C>G r.(?) p.(=) Unknown - likely benign g.6644686G>C g.6623455G>C DCHS1(NM_003737.2):c.8224C>G (p.R2742G) - DCHS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4012G>A r.(?) p.(=) Unknown - likely benign g.6644643C>T g.6623412C>T DCHS1(NM_003737.2):c.8267G>A (p.G2756E) - DCHS1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4010G>A r.(?) p.(=) Unknown - VUS g.6644641C>T g.6623410C>T DCHS1(NM_003737.2):c.8269G>A (p.A2757T) - DCHS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4007G>A r.(?) p.(=) Unknown - likely benign g.6644638C>T g.6623407C>T DCHS1(NM_003737.2):c.8269G>A (p.(Ala2757Thr)) - DCHS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-3969G>A r.(?) p.(=) Unknown - benign g.6644600C>T g.6623369C>T DCHS1(NM_003737.3):c.8307G>A (p.A2769=) - DCHS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3954C>T r.(?) p.(=) Unknown - likely benign g.6644585G>A - DCHS1(NM_003737.2):c.8325C>T (p.Y2775=) - DCHS1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3886T>C r.(?) p.(=) Unknown - VUS g.6644517A>G - DCHS1(NM_003737.4):c.8390T>C (p.V2797A) - DCHS1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3833G>A r.(?) p.(=) Unknown - VUS g.6644464C>T g.6623233C>T DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.3):c.8443G>A (p.A2815T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T) - DCHS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3833G>A r.(?) p.(=) Unknown - likely benign g.6644464C>T g.6623233C>T DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.3):c.8443G>A (p.A2815T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T) - DCHS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3833G>A r.(?) p.(=) Unknown - VUS g.6644464C>T - DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.3):c.8443G>A (p.A2815T), DCHS1(NM_003737.4):c.8443G>A (p.A2815T) - DCHS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3796G>C r.(?) p.(=) Unknown - benign g.6644427C>G g.6623196C>G DCHS1(NM_003737.3):c.8480G>C (p.R2827P) - DCHS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3680G>A r.(?) p.(=) Unknown - likely benign g.6644311C>T g.6623080C>T DCHS1(NM_003737.2):c.8599G>A (p.A2867T) - DCHS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-3677G>A r.(?) p.(=) Unknown - benign g.6644308C>T g.6623077C>T DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.3):c.8599G>A (p.A2867T) - DCHS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3677G>A r.(?) p.(=) Unknown - likely benign g.6644308C>T g.6623077C>T DCHS1(NM_003737.2):c.8599G>A (p.(Ala2867Thr)), DCHS1(NM_003737.3):c.8599G>A (p.A2867T) - DCHS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3639C>T r.(?) p.(=) Unknown - benign g.6644270G>A g.6623039G>A DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.3):c.8637C>T (p.S2879=) - DCHS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3639C>T r.(?) p.(=) Unknown - likely benign g.6644270G>A g.6623039G>A DCHS1(NM_003737.2):c.8640C>T (p.G2880=), DCHS1(NM_003737.3):c.8637C>T (p.S2879=) - DCHS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3541G>A r.(?) p.(=) Unknown - VUS g.6644172C>T g.6622941C>T DCHS1(NM_003737.2):c.8735G>A (p.(Arg2912Gln)) - DCHS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3518G>A r.(?) p.(=) Unknown - likely benign g.6644149C>T g.6622918C>T DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M) - DCHS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3518G>A r.(?) p.(=) Unknown - VUS g.6644149C>T g.6622918C>T DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M) - DCHS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3518G>A r.(?) p.(=) Unknown - likely benign g.6644149C>T - DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.4):c.8758G>A (p.V2920M) - DCHS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3503A>C r.(?) p.(=) Unknown - VUS g.6644134T>G g.6622903T>G - - DCHS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3500G>A r.(?) p.(=) Unknown - VUS g.6644131C>T g.6622900C>T DCHS1(NM_003737.2):c.8776G>A (p.(Ala2926Thr)) - DCHS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3428G>C r.(?) p.(=) Unknown - VUS g.6644059C>G g.6622828C>G - - DCHS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3392C>T r.(?) p.(=) Unknown - VUS g.6644023G>A g.6622792G>A DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W) - DCHS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3392C>T r.(?) p.(=) Unknown - VUS g.6644023G>A g.6622792G>A DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.4):c.8884C>T (p.R2962W) - DCHS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3345G>A r.(?) p.(=) Unknown - benign g.6643976C>T g.6622745C>T DCHS1(NM_003737.3):c.8931G>A (p.Q2977=) - DCHS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3304G>A r.(?) p.(=) Unknown - likely benign g.6643935C>T g.6622704C>T DCHS1(NM_003737.2):c.8975G>A (p.G2992E) - DCHS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-3179C>T r.(?) p.(=) Unknown - VUS g.6643810G>A g.6622579G>A DCHS1(NM_003737.4):c.9097C>T (p.R3033*) - DCHS1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3122C>T r.(?) p.(=) Unknown - VUS g.6643753G>A g.6622522G>A DCHS1(NM_003737.2):c.9157C>T (p.L3053=) - DCHS1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3033C>T r.(?) p.(=) Unknown - benign g.6643664G>A g.6622433G>A DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.3):c.9243C>T (p.C3081=) - DCHS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-3033C>T r.(?) p.(=) Unknown - likely benign g.6643664G>A - DCHS1(NM_003737.2):c.9246C>T (p.D3082=), DCHS1(NM_003737.3):c.9243C>T (p.C3081=) - DCHS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3007A>T r.(?) p.(=) Unknown - VUS g.6643638T>A - DCHS1(NM_003737.2):c.9272A>T (p.K3091M) - DCHS1_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2981C>T r.(?) p.(=) Unknown - VUS g.6643612G>A g.6622381G>A DCHS1(NM_003737.2):c.9298C>T (p.P3100S) - DCHS1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2945G>A r.(?) p.(=) Unknown - VUS g.6643576C>T g.6622345C>T DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg)) - DCHS1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2911G>A r.(?) p.(=) Unknown - VUS g.6643542C>T g.6622311C>T DCHS1(NM_003737.4):c.9365G>A (p.G3122D) - DCHS1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2871C>T r.(?) p.(=) Unknown - VUS g.6643502G>A g.6622271G>A DCHS1(NM_003737.2):c.9408C>T (p.P3136=) - DCHS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2667C>G r.(?) p.(=) Unknown - likely benign g.6643298G>C g.6622067G>C DCHS1(NM_003737.2):c.9612C>G (p.L3204=) - DCHS1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2479C>T r.(?) p.(=) Unknown - VUS g.6643110G>A g.6621879G>A DCHS1(NM_003737.2):c.9800C>T (p.A3267V) - DCHS1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2478C>T r.(?) p.(=) Unknown - likely benign g.6643109G>A - DCHS1(NM_003737.2):c.9801C>T (p.V3267=) - DCHS1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2442A>G r.(?) p.(=) Unknown - likely benign g.6643073T>C - DCHS1(NM_003737.2):c.9837A>G (p.A3279=) - DCHS1_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2426G>A r.(?) p.(=) Unknown - likely benign g.6643057C>T g.6621826C>T DCHS1(NM_003737.2):c.9853G>A (p.E3285K) - DCHS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. _1 c.-238T>C - - Unknown - benign g.6640869A>G g.6619638A>G 1089T>C (AF039704) - TPP1_000118 - PubMed: Sleat 1999 - - Germline - 0.30 (het), 0.15 (hom) - 0 - DNA SEQ - - CLN 10330339-cases PubMed: Sleat 1999 analysis 92 unrelated individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. _1 c.-150G>A - - Unknown - benign g.6640781C>T g.6619550C>T 1177G>A (AF039704) - TPP1_000121 - PubMed: Sleat 1999 - - Germline - 0.02 (het), 0.06 (hom) - 0 - DNA SEQ - - CLN 10330339-cases PubMed: Sleat 1999 analysis 94 unrelated individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. _1 c.-122T>C - - Unknown - benign g.6640753A>G g.6619522A>G 1205T>C (AF039704) - TPP1_000119 - PubMed: Sleat 1999 - - Germline - 0.04 (het), 0.06 (hom) - 0 - DNA SEQ - - CLN 10330339-cases PubMed: Sleat 1999 analysis 92 unrelated individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. _1 c.-103G>A - - Parent #1 - benign g.6640734C>T g.6619503C>T 1224G>A (AF039704) - TPP1_000120 - PubMed: Sleat 1999 - - Germline - 2/90 chromosomes - 0 - DNA SEQ - - CLN 10330339-cases PubMed: Sleat 1999 analysis 90 unrelated individuals - - United States - - 0 - - 1 Johan den Dunnen
+/. 4_7 c.(278_732?) r.(278_732ins200) p.? Parent #1 - pathogenic g.(6638046_6638959?) - - - TPP1_000000 two intron sequences replaced CLN2 cDNA fragments 278_303 and 709_732, respectively, generating a 1.1 kb instead of a 0.9 kb RT-PCR product PubMed: Hartikainen 1999 - - Germline - - - 0 - DNA SEQ - - CLN 10356316-Pat2 PubMed: Hartikainen 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Lebanon - - 0 - - 1 Sara Mole
?/. 11 c.1278A>? r.(?) p.(=) Unknown - VUS g.? - Polymorphism - TPP1_000003 transiently cln2.076 {PMID:Noher de Halac 2005} - - Germline - - - 0 - DNA SEQ - - CLN ? {PMID:Noher de Halac 2005} - - - Argentina - - 0 - - 1 Sara Mole
-?/. - c.14C>A r.(?) p.(Ala5Asp) Unknown - likely benign g.6640618G>T g.6619387G>T TPP1(NM_000391.3):c.14C>A (p.A5D) - TPP1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.17+1G>C r.spl p.? Parent #1 - VUS g.6640614C>G g.6619383C>G - - TPP1_000011 - PubMed: Kousi 2009 - - Germline - - - 0 - DNA SEQ - - CLN ? PubMed: Kousi 2009 - - - Turkey - - 0 - - 1 Sara Mole
?/. 1i c.17+1G>C r.spl p.? Parent #2 - VUS g.6640614C>G g.6619383C>G - - TPP1_000011 - PubMed: Kousi 2009 - - Germline - - - 0 - DNA SEQ - - CLN ? PubMed: Kousi 2009 - - - Turkey - - 0 - - 1 Sara Mole
?/. 1i c.17+1G>C r.spl p.? Parent #1 - VUS g.6640614C>G g.6619383C>G - - TPP1_000011 - PubMed: Kousi 2012 - - Germline - - - 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Spain - - 0 - - 1 Sara Mole
?/. 1i c.17+1G>C r.spl p.? Parent #2 - VUS g.6640614C>G g.6619383C>G - - TPP1_000011 - PubMed: Kousi 2012 - - Germline - - - 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Spain - - 0 - - 1 Sara Mole
?/. 1i c.18-3C>G r.spl? p.? Parent #1 - VUS g.6640501G>C g.6619270G>C - - TPP1_000012 - PubMed: Kousi 2012 - - Germline - - SfcI- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Sara Mole
?/. 2 c.37dup r.(?) p.(Leu13Profs*32) Parent #1 - VUS g.6640481dup g.6619250dup - - TPP1_000085 - PubMed: Kousi 2012 - - Germline - - - 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Sara Mole
+?/. 2 c.38T>C r.(?) p.(Leu13Pro) Parent #2 - likely pathogenic (recessive) g.6640478A>G g.6619247A>G - - TPP1_000180 - - - - Germline - - - 0 - DNA SEQ - - CLN 2:P - - - - Poland - - 0 - - 1 Sara Mole
-?/. - c.42C>A r.(?) p.(Ile14=) Unknown - likely benign g.6640474G>T - TPP1(NM_000391.4):c.42C>A (p.I14=) - DCHS1_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.89+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.6640426C>T g.6619195C>T - - TPP1_000179 - PubMed: Saini 2016 - - Germline - - - 0 - DNA SEQ - - CLN - PubMed: Saini 2016 - - - India - - 0 - - 1 Sara Mole
?/. 2i c.89+4A>G r.spl? p.(?) Parent #1 - VUS g.6640423T>C g.6619192T>C IVS2+4A>G - TPP1_000015 - PubMed: Kohan 2005 - - Germline - - - 0 - DNA SEQ - - CLN ? {PMID:Noher de Halac 2005} - - - Argentina - - 0 - - 1 Sara Mole
-?/. 2i c.89+4A>G r.spl? p.(?) Unknown - likely benign g.6640423T>C g.6619192T>C - - TPP1_000015 - PubMed: Kohan 2013 - - Germline - - - 0 - DNA SEQ - - CLN 005-1503-AR; REL08 PubMed: Kohan 2013 - - - Argentina - 27y 0 - - 1 Sara Mole
?/. 2i c.89+5G>C r.spl? p.(?) Parent #1 - VUS g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kousi 2012 - - Germline - - Tsp45I+;HincII-;Hpy166II- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Sara Mole
?/. 2i c.89+5G>C r.spl? p.(?) Parent #1 - VUS g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kousi 2012 - - Germline - - Tsp45I+;HincII-;Hpy166II- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Sara Mole
?/. 2i c.89+5G>C r.spl? p.(?) Parent #1 - VUS g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kousi 2012 - - Germline - - Tsp45I+;HincII-;Hpy166II- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Sara Mole
?/. 2i c.89+5G>C r.spl? p.(?) Unknown - VUS g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kousi 2012 - - Germline - - Tsp45I+;HincII-;Hpy166II- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - United States - - 0 - - 1 Sara Mole
?/. 2i c.89+5G>C r.spl? p.(?) Unknown - VUS g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kousi 2012 - - Germline - - Tsp45I+;HincII-;Hpy166II- 0 - DNA SEQ - - CLN ? PubMed: Kousi 2012 - - - Russian Federation - - 0 - - 1 Sara Mole
+/. 2i c.89+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kohan 2013 - rs746085696 Germline - - - 0 - DNA SEQ - - CLN 149-0110-AR; REL19 PubMed: Kohan 2013 - - - Argentina - - 0 - - 1 Sara Mole
+/. 2i c.89+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.6640422C>G g.6619191C>G - - TPP1_000014 - PubMed: Kohan 2013 - rs746085696 Germline - - - 0 - DNA SEQ - - CLN 149-0112-AR; REL19 PubMed: Kohan 2013 - - - Argentina - - 0 - - 1 Sara Mole
+/. 2i c.89+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.6640422C>G g.6619191C>G - - TPP1_000014 - Paul Gissen, UK - rs746085696 Germline - - - 0 - DNA SEQ - - CLN - Paul Gissen, UK - - - - - - 0 - - 1 Sara Mole
+?/. - c.89+5G>C r.spl? p.? Unknown - likely pathogenic g.6640422C>G g.6619191C>G TPP1(NM_000391.4):c.89+5G>C - TPP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.90-44C>T r.(?) p.(?) Parent #1 - VUS g.6640190G>A g.6618959G>A - - TPP1_000013 - PubMed: Tessa et a. 2000 - - Germline - - BccI- 0 - DNA SEQ - - CLN ? PubMed: Tessa 2000 sibs - - Italy - - 0 - - 1 Sara Mole
-/. 2i c.90-44C>T r.(?) p.(=) Parent #1 - benign g.6640190G>A g.6618959G>A 1767C>T (AF039704) - TPP1_000013 - PubMed: Sleat 1999 - - Germline - 1/58 chromosomes BccI- 0 - DNA SEQ - - CLN 10330339-cases PubMed: Sleat 1999 analysis 116 unrelated individuals - - United States - - 0 - - 1 Johan den Dunnen
?/. 2i c.90-8C>G r.spl p.? Both (homozygous) - VUS g.6640154G>C g.6618923G>C - - TPP1_000197 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5502 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. 2i_7i c.(89-1_90+1)_(886+1_887-1)del r.? p.? Both (homozygous) ACMG likely pathogenic g.(6637735_6637891)_(6640145_6640428)del - 6637892_6640146del - TPP1_000187 - - - - Germline - - - 0 - DNA MLPA EDTA - CLN-2 ? - - F ? Oman - - - - - 1 Corina-Marcela Rus
-?/. - c.101G>A r.(?) p.(Gly34Asp) Unknown - likely benign g.6640135C>T - TPP1(NM_000391.3):c.101G>A (p.G34D) - DCHS1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119G>A r.(?) p.(Arg40His) Unknown - VUS g.6640117C>T g.6618886C>T TPP1(NM_000391.3):c.119G>A (p.R40H) - DCHS1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.122C>T r.(?) p.(Ala41Val) Unknown - likely benign g.6640114G>A g.6618883G>A TPP1(NM_000391.3):c.122C>T (p.A41V) - TPP1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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