Unique variants in the TPP1 gene

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

312 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 6 - c.? r.? p.? - VUS g.? - - - DRD4_000002 - Raymond Wang, USA, PubMed: Shen 2013, PubMed: Sun 2013 - - Germline - - - - - Johan den Dunnen, Sara Mole
-?/. 1 - c.-5004C>T r.(?) p.(=) - likely benign g.6645635G>A - DCHS1(NM_003737.4):c.7286-14C>T - DCHS1_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-4894G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 3 - c.-4891G>A r.(?) p.(=) - benign, likely benign, VUS g.6645522C>T g.6624291C>T 1 more item - DCHS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-4837C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.-4828C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-4738G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-4667C>T r.(?) p.(=) - VUS g.6645298G>A - DCHS1(NM_003737.4):c.7609C>T (p.L2537=) - DCHS1_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-4662T>G r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.-4578A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.-4477C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-4437G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.-4233C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.-4090A>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.-4083C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4080C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4055C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4012G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-4010G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4007G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.-3969G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.-3954C>T r.(?) p.(=) - likely benign g.6644585G>A - DCHS1(NM_003737.2):c.8325C>T (p.Y2775=) - DCHS1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3886T>C r.(?) p.(=) - VUS g.6644517A>G - DCHS1(NM_003737.4):c.8390T>C (p.V2797A) - DCHS1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.-3833G>A r.(?) p.(=) - likely benign, VUS g.6644464C>T g.6623233C>T 1 more item - DCHS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 1 - c.-3796G>C r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.-3680G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-3677G>A r.(?) p.(=) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/., -?/. 2 - c.-3639C>T r.(?) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-3541G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.-3518G>A r.(?) p.(=) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.-3503A>C r.(?) p.(=) - VUS g.6644134T>G g.6622903T>G - - DCHS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3500G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.-3428G>C r.(?) p.(=) - VUS g.6644059C>G g.6622828C>G - - DCHS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.-3392C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 1 - c.-3345G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.-3304G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-3179C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.-3122C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-3033C>T r.(?) p.(=) - benign, likely 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-3007A>T r.(?) p.(=) - VUS g.6643638T>A - DCHS1(NM_003737.2):c.9272A>T (p.K3091M) - DCHS1_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-2981C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-2945G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.-2911G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.-2871C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2667C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-2479C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2478C>T r.(?) p.(=) - likely benign g.6643109G>A - DCHS1(NM_003737.2):c.9801C>T (p.V3267=) - DCHS1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2442A>G r.(?) p.(=) - likely benign g.6643073T>C - DCHS1(NM_003737.2):c.9837A>G (p.A3279=) - DCHS1_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2426G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 _1 c.-238T>C - - - benign g.6640869A>G g.6619638A>G 1089T>C (AF039704) - TPP1_000118 - PubMed: Sleat 1999 - - Germline - 0.30 (het), 0.15 (hom) - - - Sara Mole
-/. 1 _1 c.-150G>A - - - benign g.6640781C>T g.6619550C>T 1177G>A (AF039704) - TPP1_000121 - PubMed: Sleat 1999 - - Germline - 0.02 (het), 0.06 (hom) - - - Sara Mole
-/. 1 _1 c.-122T>C - - - benign g.6640753A>G g.6619522A>G 1205T>C (AF039704) - TPP1_000119 - PubMed: Sleat 1999 - - Germline - 0.04 (het), 0.06 (hom) - - - Sara Mole
-/. 1 _1 c.-103G>A - - - benign g.6640734C>T g.6619503C>T 1224G>A (AF039704) - TPP1_000120 - PubMed: Sleat 1999 - - Germline - 2/90 chromosomes - - - Sara Mole
+/. 1 4_7 c.(278_732?) r.(278_732ins200) p.? - pathogenic g.(6638046_6638959?) - - - TPP1_000000 1 more item PubMed: Hartikainen 1999 - - Germline - - - - - Sara Mole
?/. 1 11 c.1278A>? r.(?) p.(=) - VUS g.? - Polymorphism - TPP1_000003 transiently cln2.076 {PMID:Noher de Halac 2005} - - Germline - - - - - Sara Mole
-?/. 1 - c.14C>A r.(?) p.(Ala5Asp) - 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 - - - - - VKGL-NL_Rotterdam
?/. 4 1i c.17+1G>C r.spl p.? - VUS g.6640614C>G g.6619383C>G - - TPP1_000011 - PubMed: Kousi 2009, PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
?/. 1 1i c.18-3C>G r.spl? p.? - VUS g.6640501G>C g.6619270G>C - - TPP1_000012 - PubMed: Kousi 2012 - - Germline - - SfcI- - - Sara Mole
?/. 1 2 c.37dup r.(?) p.(Leu13Profs*32) - VUS g.6640481dup g.6619250dup - - TPP1_000085 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
+?/. 1 2 c.38T>C r.(?) p.(Leu13Pro) - likely pathogenic (recessive) g.6640478A>G g.6619247A>G - - TPP1_000180 - - - - Germline - - - - - Sara Mole
-?/. 1 - c.42C>A r.(?) p.(Ile14=) - likely benign g.6640474G>T - TPP1(NM_000391.4):c.42C>A (p.I14=) - DCHS1_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 2i c.89+1G>A r.spl p.? - pathogenic (recessive) g.6640426C>T g.6619195C>T - - TPP1_000179 - PubMed: Saini 2016 - - Germline - - - - - Sara Mole
-?/., ?/. 2 2i c.89+4A>G r.spl? p.(?) - likely benign, VUS g.6640423T>C g.6619192T>C IVS2+4A>G - TPP1_000015 - PubMed: Kohan 2005, PubMed: Kohan 2013 - - Germline - - - - - Sara Mole
+/., +?/., ?/. 9 2i c.89+5G>C r.spl, r.spl? p.(?), p.? - likely pathogenic, pathogenic (recessive), VUS g.6640422C>G g.6619191C>G TPP1(NM_000391.4):c.89+5G>C - TPP1_000014 VKGL data sharing initiative Nederland Paul Gissen, UK, PubMed: Kohan 2013, PubMed: Kousi 2012 - rs746085696 CLASSIFICATION record, Germline - - Tsp45I+;HincII-;Hpy166II- - - Sara Mole, VKGL-NL_Groningen
-/., ?/. 2 2i c.90-44C>T r.(?) p.(=), p.(?) - benign, VUS g.6640190G>A g.6618959G>A 1767C>T (AF039704) - TPP1_000013 - PubMed: Sleat 1999, PubMed: Tessa et a. 2000 - - Germline - 1/58 chromosomes BccI- - - Sara Mole
?/. 1 2i c.90-8C>G r.spl p.? - VUS g.6640154G>C g.6618923G>C - - TPP1_000197 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 2i_7i c.(89-1_90+1)_(886+1_887-1)del r.? p.? ACMG likely pathogenic g.(6637735_6637891)_(6640145_6640428)del - 6637892_6640146del - TPP1_000187 - - - - Germline - - - - - Corina-Marcela Rus
-?/. 1 - c.101G>A r.(?) p.(Gly34Asp) - likely benign g.6640135C>T - TPP1(NM_000391.3):c.101G>A (p.G34D) - DCHS1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.119G>A r.(?) p.(Arg40His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.122C>T r.(?) p.(Ala41Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.139C>G r.(?) p.(Leu47Val) - VUS g.6640097G>C g.6618866G>C - - TPP1_000178 - - - - Germline - - - - - Sara Mole
+?/. 1 3 c.163C>T r.(?) p.(Gln55*) ACMG likely pathogenic g.6640073G>A - - - TPP1_000182 - - - - Germline - - - - - Corina-Marcela Rus
?/. 1 3 c.177_180del r.(?) p.fs - VUS g.6640058_6640061del g.6618827_6618830del 177-180delAAGA - TPP1_000122 - PubMed: Chang 2012 - - Germline - - - - - Sara Mole
?/. 1 - c.177_191del r.(?) p.(Arg60_Leu64del) - VUS g.6640045_6640059del g.6618814_6618828del TPP1(NM_000391.3):c.177_191delAAGACTCTCGGAGCT (p.R60_L64del) - TPP1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 3 c.184T>A r.(?) p.(Ser62Thr) - benign g.6640052A>T g.6618821A>T - - TPP1_000103 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
?/. 1 3 c.184_185del r.(?) p.(Ser62Glyfs*25) - VUS g.6640054_6640055del g.6618823_6618824del - - TPP1_000102 - PubMed: Lam 2001 - - Germline - - - - - Sara Mole
-?/. 1 - c.185C>T r.(?) p.(Ser62Leu) - likely benign g.6640051G>A g.6618820G>A TPP1(NM_000391.3):c.185C>T (p.(Ser62Leu)) - DCHS1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.194_196del r.(?) p.(Val65_Gln66delinsGlu) - VUS g.6640040_6640042del g.6618809_6618811del TPP1(NM_000391.3):c.194_196delTGC (p.V65_Q66delinsE) - TPP1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/., ?/. 8 3 c.196C>T r.(?) p.(Gln66*) ACMG likely pathogenic, pathogenic (recessive), VUS g.6640040G>A g.6618809G>A c.196C>T, p.Gln66* - TPP1_000065 Also Noher de Halac,2005, heterozygous PubMed: Dozieres-Puyravel 2020, PubMed: Kohan 2009, PubMed: Kohan 2013, PubMed: Kousi 2012, 1 more item - rs759080581 Germline ? - - - - Johan den Dunnen, Sara Mole
+?/., ?/. 8 3 c.225A>G r.(?), r.spl? p.(=), p.(Gln75=) ACMG likely pathogenic, likely pathogenic (recessive), VUS g.6640011T>C g.6618780T>C c.225A>G, p.(=), p.Gln75Gln / Splice defect - TPP1_000002 Homozygous, VKGL data sharing initiative Nederland PubMed: Dozieres-Puyravel 2020, PubMed: Kousi 2012, PubMed: Sleat 1999, PubMed: Sun 2013 - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, Sara Mole, VKGL-NL_Nijmegen
+?/. 4 3 c.229G>A r.(?) p.(Gly77Arg) - likely pathogenic g.6640007C>T g.6618776C>T - - TPP1_000078 - PubMed: Kousi 2012, PubMed: Sleat 1999 - - Germline - - BslI- - - Sara Mole
+?/. 3 - c.229G>C r.(?) p.(Gly77Arg) ACMG likely pathogenic g.6640007C>G g.6618776C>G c.229G>C, p.(Gly77Arg), c.229G>C, p.Gly77Arg - TPP1_000201 Compound heterozygous, Homozygous PubMed: Dozieres-Puyravel 2020, PubMed: Jilani 2019 - - Germline ?, yes - - - - LOVD
?/. 1 3 c.229G>T r.(?) p.(Gly77*) - VUS g.6640007C>A g.6618776C>A - - TPP1_000077 - PubMed: Chang 2012 - - Germline - - BslI- - - Sara Mole
+?/. 1 3i c.229+3G>C r.spl p.? - likely pathogenic (recessive) g.6640004C>G g.6618773C>G - - TPP1_000177 - R. Williams pers comm - - Germline - - - - - Sara Mole
+/. 1 - c.237C>A r.(?) p.(Tyr79Ter) - pathogenic g.6639000G>T - TPP1(NM_000391.3):c.237C>A (p.Y79*) - DCHS1_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.237C>G r.(?) p.(Tyr79*) - VUS g.6639000G>C g.6617769G>C - - TPP1_000109 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
?/. 1 - c.289C>A r.(?) p.(His97Asn) - VUS g.6638948G>T g.6617717G>T TPP1(NM_000391.3):c.289C>A (p.(His97Asn)) - TPP1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.293C>T r.(?) p.(Thr98Met) - likely benign, VUS g.6638944G>A g.6617713G>A TPP1(NM_000391.3):c.293C>T (p.T98M), TPP1(NM_000391.4):c.293C>T (p.T98M) - DCHS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/., ?/. 7 4 c.299A>G r.(?) p.(Gln100Arg) - benign, likely benign, VUS g.6638938T>C g.6617707T>C 3004A>G (AF039704), 1 more item - TPP1_000058 VKGL data sharing initiative Nederland PubMed: Kousi 2012, PubMed: Sleat 1999, PubMed: Tessa 2000 - - CLASSIFICATION record, Germline - 0.05 (het), 0.05 (hom) HpyCH4V- - - Johan den Dunnen, Sara Mole, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/., ?/. 5 4 c.311T>A r.(?) p.(Leu104*) ACMG pathogenic (recessive), VUS g.6638926A>T g.6617695A>T - - TPP1_000083 - PubMed: Helbig 2016, PubMed: Kohan 2008, PubMed: Kohan 2009, PubMed: Kohan 2013, PubMed: Moore 2008 - - Germline - - BfaI+; - - Johan den Dunnen, Sara Mole
+/. 1 4 c.337dup r.(?) p.(Ser113Phefs*55) - pathogenic (recessive) g.6638901dup g.6617670dup - - TPP1_000176 - R. Williams pers comm - - Germline - - - - - Sara Mole
?/. 1 4 c.357dup r.(?) p.(Leu120Serfs*18) - VUS g.6638882dup g.6617651dup - - TPP1_000084 - PubMed: Zhong 2000 - - Germline - - - - - Sara Mole
?/. 2 4 c.377_387del r.(?) p.(Ile126Argfs*8) - VUS g.6638657_6638864del g.6617426_6617633del - - TPP1_000081 - PubMed: Sleat 1999 - - Germline - - BtsCI-;FokI-;MmeI-;SfaNI- - - Sara Mole
+/., ?/. 4 4 c.379C>T r.(?) p.(Arg127*), p.(Arg127Ter) - pathogenic, VUS g.6638858G>A g.6617627G>A TPP1(NM_000391.3):c.379C>T (p.R127*) - TPP1_000038 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Kousi 2012, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Sleat 1999 - rs756564767 CLASSIFICATION record, Germline - 1/2795 individuals BtsCI-;FokI-;MmeI- - - Sara Mole, VKGL-NL_Rotterdam, Mohammed Faruq
+/., -/. 10 4 c.380G>A r.(?) p.(Arg127Gln) - benign, pathogenic (recessive) g.6638857C>T g.6617626C>T - - TPP1_000039 - PubMed: Kousi 2012, PubMed: Steinfeld 2002, PubMed: Zhong 2000 - - Germline - - - - - Sara Mole
?/. 2 4i c.380+55G>A r.(?) p.(=) - VUS g.6638802C>T g.6617571C>T - - TPP1_000016 - PubMed: Mole 2001 - - Germline - - FokI-;XcmI- - - Sara Mole
?/. 1 4i c.381-17_381-4del r.spl? p.(=) - VUS g.6638672_6638685del g.6617441_6617454del IVS4-17~-4delTGTTCTCTGACCTC - TPP1_000020 - PubMed: Chang 2012 - - Germline - - - - - Sara Mole
-/. 1 - c.381-10dup r.(=) p.(=) - benign g.6638669dup g.6617438dup TPP1(NM_000391.4):c.381-10dupT - DCHS1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 4i c.381-6C>T r.(?) p.(=) - VUS g.6638665G>A g.6617434G>A - - TPP1_000017 variant not listed in paper PubMed: Kousi 2012 - - Germline - - BpmI- - - Sara Mole
?/. 2 4i c.381-2A>G r.spl p.? - VUS g.6638661T>C g.6617430T>C - - TPP1_000018 Added entry for 2nd allele. PubMed: Zhong 2000 - - Germline - - - - - Sara Mole
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