Unique variants in gene TPP1

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.? g.? - - - DRD4_000002 - PubMed: Shen 2013, Raymond Wang, USA, PubMed: Sun 2013 - - Germline - - - - - Sara Mole, Johan den Dunnen
?/. 1 - c.-4894G>A VUS r.(?) p.(=) g.6645525C>T - DCHS1(NM_003737.2):c.7385G>A (p.R2462Q) - DCHS1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ?/., -?/. 3 - c.-4891G>A benign, VUS, likely benign r.(?) p.(=) g.6645522C>T - 1 more item - DCHS1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.-4837C>T VUS r.(?) p.(=) g.6645468G>A - DCHS1(NM_003737.2):c.7442C>T (p.T2481I) - DCHS1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-4828C>T likely benign r.(?) p.(=) g.6645459G>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_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.-4738G>A likely benign r.(?) p.(=) g.6645369C>T - DCHS1(NM_003737.2):c.7541G>A (p.S2514N) - DCHS1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-4662T>G benign r.(?) p.(=) g.6645293A>C - DCHS1(NM_003737.3):c.7614T>G (p.A2538=) - DCHS1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-4578A>G benign r.(?) p.(=) g.6645209T>C - DCHS1(NM_003737.3):c.7698A>G (p.T2566=) - DCHS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-4477C>T VUS r.(?) p.(=) g.6645108G>A - DCHS1(NM_003737.2):c.7802C>T (p.A2601V) - DCHS1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-4437G>A benign r.(?) p.(=) g.6645068C>T - DCHS1(NM_003737.3):c.7839G>A (p.E2613=) - DCHS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.-4090A>T VUS r.(?) p.(=) g.6644721T>A - DCHS1(NM_003737.2):c.8189A>T (p.E2730V) - DCHS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.-4083C>T likely benign r.(?) p.(=) g.6644714G>A - DCHS1(NM_003737.2):c.8196C>T (p.D2732=) - DCHS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4080C>T likely benign r.(?) p.(=) g.6644711G>A - DCHS1(NM_003737.2):c.8199C>T (p.G2733=) - DCHS1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4055C>G likely benign r.(?) p.(=) g.6644686G>C - DCHS1(NM_003737.2):c.8224C>G (p.R2742G) - DCHS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4012G>A likely benign r.(?) p.(=) g.6644643C>T - DCHS1(NM_003737.2):c.8267G>A (p.G2756E) - DCHS1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-4010G>A VUS r.(?) p.(=) g.6644641C>T - DCHS1(NM_003737.2):c.8269G>A (p.A2757T) - DCHS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4007G>A likely benign r.(?) p.(=) g.6644638C>T - DCHS1(NM_003737.2):c.8269G>A (p.(Ala2757Thr)) - DCHS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-3969G>A benign r.(?) p.(=) g.6644600C>T - DCHS1(NM_003737.3):c.8307G>A (p.A2769=) - DCHS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.-3833G>A VUS, likely benign r.(?) p.(=) g.6644464C>T - DCHS1(NM_003737.2):c.8446G>A (p.A2816T), DCHS1(NM_003737.3):c.8443G>A (p.A2815T) - DCHS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-/. 1 - c.-3796G>C benign r.(?) p.(=) g.6644427C>G - DCHS1(NM_003737.3):c.8480G>C (p.R2827P) - DCHS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-3680G>A likely benign r.(?) p.(=) g.6644311C>T - DCHS1(NM_003737.2):c.8599G>A (p.A2867T) - DCHS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.-3677G>A benign, likely benign r.(?) p.(=) g.6644308C>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_AMC, VKGL-NL_Leiden
-/., -?/. 2 - c.-3639C>T benign, likely benign r.(?) p.(=) g.6644270G>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_AMC, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-3518G>A likely benign, VUS r.(?) p.(=) g.6644149C>T - DCHS1(NM_003737.2):c.8761G>A (p.D2921N), DCHS1(NM_003737.3):c.8758G>A (p.V2920M) - DCHS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.-3503A>C VUS r.(?) p.(=) g.6644134T>G - - - DCHS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3500G>A VUS r.(?) p.(=) g.6644131C>T - DCHS1(NM_003737.2):c.8776G>A (p.(Ala2926Thr)) - DCHS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3428G>C VUS r.(?) p.(=) g.6644059C>G - - - DCHS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.-3392C>T VUS r.(?) p.(=) g.6644023G>A - DCHS1(NM_003737.2):c.8884C>T (p.(Arg2962Trp)), DCHS1(NM_003737.3):c.8884C>T (p.R2962W) - DCHS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden
-/. 1 - c.-3345G>A benign r.(?) p.(=) g.6643976C>T - DCHS1(NM_003737.3):c.8931G>A (p.Q2977=) - DCHS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-3304G>A likely benign r.(?) p.(=) g.6643935C>T - DCHS1(NM_003737.2):c.8975G>A (p.G2992E) - DCHS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3179C>T VUS r.(?) p.(=) g.6643810G>A - DCHS1(NM_003737.3):c.9097C>T (p.R3033*) - DCHS1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-3122C>T VUS r.(?) p.(=) g.6643753G>A - DCHS1(NM_003737.2):c.9157C>T (p.L3053=) - DCHS1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-3033C>T benign r.(?) p.(=) g.6643664G>A - DCHS1(NM_003737.3):c.9243C>T (p.C3081=) - DCHS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2981C>T VUS r.(?) p.(=) g.6643612G>A - DCHS1(NM_003737.2):c.9298C>T (p.P3100S) - DCHS1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2945G>A VUS r.(?) p.(=) g.6643576C>T - DCHS1(NM_003737.2):c.9331G>A (p.(Gly3111Arg)) - DCHS1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2911G>A VUS r.(?) p.(=) g.6643542C>T - DCHS1(NM_003737.3):c.9365G>A (p.G3122D) - DCHS1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2871C>T VUS r.(?) p.(=) g.6643502G>A - DCHS1(NM_003737.2):c.9408C>T (p.P3136=) - DCHS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2667C>G likely benign r.(?) p.(=) g.6643298G>C - DCHS1(NM_003737.2):c.9612C>G (p.L3204=) - DCHS1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2479C>T VUS r.(?) p.(=) g.6643110G>A - DCHS1(NM_003737.2):c.9800C>T (p.A3267V) - DCHS1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2426G>A likely benign r.(?) p.(=) g.6643057C>T - DCHS1(NM_003737.2):c.9853G>A (p.E3285K) - DCHS1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 _1 c.-238T>C - - - 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 - - - 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 - - - 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 - - - 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.? g.(6638046_6638959?) - - - TPP1_000000 1 more item PubMed: Hartikainen 1999 - - Germline - - - - - Sara Mole
?/. 1 11 c.1278A>? - r.(?) p.(=) g.? - Polymorphism - TPP1_000003 transiently cln2.076 {PMID:Noher de Halac 2005} - - Germline - - - - - Sara Mole
-?/. 1 - c.14C>A likely benign r.(?) p.(Ala5Asp) g.6640618G>T - TPP1(NM_000391.3):c.14C>A (p.A5D) - TPP1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 4 1i c.17+1G>C - r.spl p.? 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.? g.6640501G>C g.6619270G>C - - TPP1_000012 - PubMed: Kousi 2012 - - Germline - - SfcI- - - Sara Mole
?/. 1 2 c.37dup - r.(?) p.(Leu13Profs*32) g.6640479dup g.6619248dup - - TPP1_000085 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
+?/. 1 2 c.38T>C likely pathogenic (recessive) r.(?) p.(Leu13Pro) g.6640478A>G - - - TPP1_000180 - - - - Germline - - - - - Sara Mole
+/. 1 2i c.89+1G>A pathogenic (recessive) r.spl p.? g.6640426C>T - - - TPP1_000179 - PubMed: Saini 2016 - - Germline - - - - - Sara Mole
?/., -?/. 2 2i c.89+4A>G likely benign r.spl? p.(?) 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 pathogenic (recessive), likely pathogenic r.spl, r.spl? p.?, p.(?) g.6640422C>G g.6619191C>G TPP1(NM_000391.3):c.89+5G>C - TPP1_000014 VKGL data sharing initiative Nederland PubMed: Kohan 2013, Paul Gissen, UK, PubMed: Kousi 2012 - rs746085696 Germline, CLASSIFICATION record - - Tsp45I+;HincII-;Hpy166II- - - Sara Mole, VKGL-NL
-/., ?/. 2 2i c.90-44C>T - r.(?) p.(=), p.(?) 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 - c.119G>A VUS r.(?) p.(Arg40His) g.6640117C>T - TPP1(NM_000391.3):c.119G>A (p.R40H) - DCHS1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.122C>T likely benign r.(?) p.(Ala41Val) g.6640114G>A - TPP1(NM_000391.3):c.122C>T (p.A41V) - TPP1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.139C>G VUS r.(?) p.(Leu47Val) g.6640097G>C - - - TPP1_000178 - - - - Germline - - - - - Sara Mole
?/. 1 3 c.177_180del - r.(?) p.fs g.6640056_6640059del g.6618825_6618828del 177-180delAAGA - TPP1_000122 - PubMed: Chang 2012 - - Germline - - - - - Sara Mole
?/. 1 - c.177_191del VUS r.(?) p.(Arg60_Leu64del) g.6640045_6640059del - TPP1(NM_000391.3):c.177_191delAAGACTCTCGGAGCT (p.R60_L64del) - TPP1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 3 c.184T>A - r.(?) p.(Ser62Thr) g.6640052A>T g.6618821A>T - - TPP1_000103 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
?/. 1 3 c.184_185del - r.(?) p.(Ser62Glyfs*25) g.6640051_6640052del g.6618820_6618821del - - TPP1_000102 - PubMed: Lam 2001 - - Germline - - - - - Sara Mole
-?/. 1 - c.185C>T likely benign r.(?) p.(Ser62Leu) g.6640051G>A - TPP1(NM_000391.3):c.185C>T (p.(Ser62Leu)) - DCHS1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.194_196del VUS r.(?) p.(Val65_Gln66delinsGlu) g.6640040_6640042del - TPP1(NM_000391.3):c.194_196delTGC (p.V65_Q66delinsE) - TPP1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/. 7 3 c.196C>T pathogenic (recessive) r.(?) p.(Gln66*) g.6640040G>A g.6618809G>A - - TPP1_000065 Also Noher de Halac,2005 PubMed: Kohan 2009, PubMed: Sleat 1999, PubMed: Kousi 2012, PubMed: Kohan 2013 - rs759080581 Germline - - - - - Sara Mole, Johan den Dunnen
-/. 1 - c.213C>T benign r.(?) p.(=) g.6640023G>A - TPP1(NM_000391.3):c.213C>T (p.P71=) - DCHS1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +?/. 6 3 c.225A>G likely pathogenic (recessive), VUS r.spl?, r.(?) p.(=) g.6640011T>C g.6618780T>C p.Gln75Gln / Splice defect - TPP1_000002 VKGL data sharing initiative Nederland PubMed: Kousi 2012, PubMed: Sleat 1999, PubMed: Sun 2013 - - Germline, CLASSIFICATION record - - - - - Sara Mole, Johan den Dunnen, VKGL-NL
+?/. 4 3 c.229G>A - r.(?) p.(Gly77Arg) g.6640007C>T g.6618776C>T - - TPP1_000078 - PubMed: Kousi 2012, PubMed: Sleat 1999 - - Germline - - BslI- - - Sara Mole
?/. 1 3 c.229G>T - r.(?) p.(Gly77*) g.6640007C>A g.6618776C>A - - TPP1_000077 - PubMed: Chang 2012 - - Germline - - BslI- - - Sara Mole
+?/. 1 3i c.229+3G>C likely pathogenic (recessive) r.spl p.? g.6640004C>G - - - TPP1_000177 - R. Williams pers comm - - Germline - - - - - Sara Mole
?/. 1 4 c.237C>G - r.(?) p.(Tyr79*) g.6639000G>C g.6617769G>C - - TPP1_000109 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
?/. 1 - c.289C>A VUS r.(?) p.(His97Asn) g.6638948G>T - TPP1(NM_000391.3):c.289C>A (p.(His97Asn)) - TPP1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 3 - c.293C>T VUS, likely benign r.(?) p.(Thr98Met) g.6638944G>A - TPP1(NM_000391.3):c.293C>T (p.T98M) - DCHS1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., -/., ?/. 7 4 c.299A>G likely benign r.(?) p.(Gln100Arg) g.6638938T>C g.6617707T>C TPP1(NM_000391.3):c.299A>G (p.Q100R), 3004A>G (AF039704) - TPP1_000058 VKGL data sharing initiative Nederland PubMed: Sleat 1999, PubMed: Tessa 2000, PubMed: Kousi 2012 - - CLASSIFICATION record, Germline - 0.05 (het), 0.05 (hom) HpyCH4V- - - VKGL-NL_Rotterdam, Johan den Dunnen, Sara Mole, VKGL-NL_Utrecht
?/., +/. 4 4 c.311T>A pathogenic (recessive) r.(?) p.(Leu104*) g.6638926A>T g.6617695A>T - - TPP1_000083 - PubMed: Kohan 2008, PubMed: Kohan 2009, PubMed: Kohan 2013, PubMed: Moore 2008 - - Germline - - BfaI+; - - Sara Mole, Johan den Dunnen
+/. 1 4 c.337dup pathogenic (recessive) r.(?) p.(Ser113Phefs*55) g.6638900dup - - - TPP1_000176 - R. Williams pers comm - - Germline - - - - - Sara Mole
?/. 1 4 c.357dup - r.(?) p.(Leu120Serfs*18) g.6638880dup g.6617649dup - - TPP1_000084 - PubMed: Zhong 2000 - - Germline - - - - - Sara Mole
?/. 2 4 c.377_387del - r.(?) p.(Ile126Argfs*8) g.6638653_6638860del g.6617422_6617629del - - TPP1_000081 - PubMed: Sleat 1999 - - Germline - - BtsCI-;FokI-;MmeI-;SfaNI- - - Sara Mole
+/., ?/. 3 4 c.379C>T pathogenic r.(?) p.(Arg127*) g.6638858G>A g.6617627G>A TPP1(NM_000391.3):c.379C>T (p.R127*) - TPP1_000038 VKGL data sharing initiative Nederland PubMed: Kousi 2012, PubMed: Sleat 1999 - - CLASSIFICATION record, Germline - - BtsCI-;FokI-;MmeI- - - VKGL-NL, Sara Mole
+/., -/. 10 4 c.380G>A pathogenic (recessive) r.(?) p.(Arg127Gln) g.6638857C>T g.6617626C>T - - TPP1_000039 - PubMed: Zhong 2000, PubMed: Kousi 2012, PubMed: Steinfeld 2002 - - Germline - - - - - Sara Mole
?/. 2 4i c.380+55G>A - r.(?) p.(=) 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.(=) g.6638663_6638676del g.6617432_6617445del IVS4-17~-4delTGTTCTCTGACCTC - TPP1_000020 - PubMed: Chang 2012 - - Germline - - - - - Sara Mole
-/. 2 - c.381-10dup benign r.(=) p.(=) g.6638669dup - TPP1(NM_000391.3):c.381-10dupT - DCHS1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
?/. 1 4i c.381-6C>T - r.(?) p.(=) 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.? g.6638661T>C g.6617430T>C - - TPP1_000018 Added entry for 2nd allele. PubMed: Zhong 2000 - - Germline - - - - - Sara Mole
?/. 2 4i c.381-1G>C - r.spl p.? g.6638660C>G g.6617429C>G - - TPP1_000019 Added entry for 2nd allele. PubMed: Kousi 2012 - - Germline - - BpmI-;Hpy188III- - - Sara Mole
?/. 1 5 c.406_409dup - r.(?) p.(Glu137Glyfs*2) g.6638631_6638634dup g.6617400_6617403dup c.409-410insGCTG - TPP1_000066 - PubMed: Chang 2012 - - Germline - - BslI+;Cac8I+; - - Sara Mole
+?/. 1 5 c.457T>C - r.(?) p.(Ser153Pro) g.6638583A>G g.6617352A>G - - TPP1_000096 - Caillaud, ASHG 1999, ABS 1287 - - Germline - - - - - Sara Mole
?/. 1 - c.466C>A VUS r.(?) p.(Pro156Thr) g.6638574G>T - - - TPP1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 5 c.481C>T pathogenic, pathogenic (recessive) r.(?) p.(Gln161*) g.6638559G>A - - - TPP1_000149 VKGL data sharing initiative Nederland Raymond Wang, USA - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Sara Mole
?/. 1 5 c.497dup - r.(?) p.(His166Glnfs*22) g.6638543dup g.6617312dup - - TPP1_000079 - PubMed: Kousi 2012 - - Germline - - CviAII-;FatI-;NlaIII- - - Sara Mole
-/. 6 5i c.508+26T>A benign r.(?) p.(=) g.6638506A>T g.6617275A>T 3436A>T (AF039704) - TPP1_000021 - PubMed: Kohan 2013, PubMed: Sleat 1999 - rs1800738 Germline - 0.40 (het), 0.46 (hom) BccI+;BtsCI+;FokI+; - - Sara Mole, Johan den Dunnen
+/., ?/. 6 5i c.509-1G>A pathogenic r.508_509ins508+1_509-2insa, r.spl?, r.spl p.? g.6638385C>T g.6617154C>T TPP1(NM_000391.3):c.509-1G>A - TPP1_000023 VKGL data sharing initiative Nederland PubMed: Hartikainen 1999, PubMed: Sleat 1999 - - Germline, CLASSIFICATION record - - BmrI+;BsrI+;SfcI-, SfcI-;TspRI- - - Sara Mole, VKGL-NL
?/., +/. 200 5i c.509-1G>C pathogenic (recessive), pathogenic r.spl, r.spl?, r.508_509ins508+1_509-2insC, r.[508_509ins508+1_509-2insC, =] p.?, p.[Val170Glyfs*29, =] g.6638385C>G g.6617154C>G TPP1(NM_000391.3):c.509-1G>C (, p.?), g.3556G>C - TPP1_000022 Added entry for 2nd allele., JNCL, VKGL data sharing initiative Nederland, 2 more items PubMed: Sleat 1999, PubMed: Hartikainen 1999, Franken, ASHG 1999, ABS 1307, PubMed: Minh 2012, 12 more items - rs56144125 Germline, CLASSIFICATION record - - BmrI+;BsrI+;SfcI-, BanI-;NlaIV- - - Sara Mole, VKGL-NL_Rotterdam, VKGL-NL_Leiden, Johan den Dunnen, VKGL-NL_Groningen
?/. 24 6 c.524G>A - r.(?) p.(Arg175His) g.6638369C>T g.6617138C>T - - TPP1_000040 19/20 PubMed: Kousi 2012, PubMed: Steinfeld 2002 - - Germline - - HpyCH4III- - - Sara Mole
?/. 1 - c.542C>T VUS r.(?) p.(Ser181Phe) g.6638351G>A - TPP1(NM_000391.3):c.542C>T (p.S181F) - DCHS1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.553C>T benign r.(?) p.(Arg185Cys) g.6638340G>A - TPP1(NM_000391.3):c.553C>T (p.R185C) - TPP1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 6 c.605C>T - r.(?) p.(Pro202Leu) g.6638288G>A g.6617057G>A - - TPP1_000094 - PubMed: Mole 2001 - - Germline - - - - - Sara Mole
+/., +?/. 5 6 c.616C>T pathogenic (recessive) r.(?) p.(Arg206Cys) g.6638277G>A g.6617046G>A - - TPP1_000041 - PubMed: Bhavsar 2016, PubMed: Berry-Kravis 2000 - rs28940573 Germline - - AlwI- - - Sara Mole
+?/. 1 6 c.617G>A - r.(?) p.(Arg206His) g.6638276C>T g.6617045C>T - - TPP1_000042 - PubMed: Kousi 2012 - - Germline - - - - - Sara Mole
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