List of variants in gene TPP1 reported as pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	rs119455955	0.00025
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys)	rs121908197	0.00009
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	rs756564767	0.00004
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	rs763162812	0.00003
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	rs121908200	0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)	rs121908195	0.00002
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	rs765380155	0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)	rs119455953	0.00001
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)	rs1474804613	0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	rs119455956	0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)	rs398122959	0.00001
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)	rs121908203	0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	rs1184563885	0.00001
NM_000391.4(TPP1):c.1551+1G>C	rs786204553	0.00001
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)	rs1216139602	0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	rs121908195	0.00001
NM_000391.4(TPP1):c.274del (p.Ser92fs)	rs1064793806	0.00001
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)	rs1589948943	0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)	rs764256845	0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)	rs28940573	0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His)	rs121908209	0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	rs119455957	0.00001
NM_000391.4(TPP1):c.887-10A>G	rs755445790	0.00001
NC_000011.10:g.6615330del	rs2134591803
NC_000011.10:g.6618916del
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)	rs750428882
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.1075+2T>C	rs1855583482
NM_000391.4(TPP1):c.1076-2A>G	rs1424116749
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)	rs1855576182
NM_000391.4(TPP1):c.1097G>A (p.Trp366Ter)
NM_000391.4(TPP1):c.1117C>T (p.Gln373Ter)
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)	rs121908199
NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter)	rs747179298
NM_000391.4(TPP1):c.1323_1326del (p.Ser440_Tyr441insTer)	rs2134591716
NM_000391.4(TPP1):c.1363_1425+9del	rs2134591509
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	rs786204753
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)	rs1855559514
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)	rs1057516264
NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter)	rs1855554832
NM_000391.4(TPP1):c.146_155del (p.Leu49fs)
NM_000391.4(TPP1):c.1471del (p.His491fs)	rs1855554681
NM_000391.4(TPP1):c.1477_1478dup (p.Leu494fs)
NM_000391.4(TPP1):c.1490del (p.Arg497fs)
NM_000391.4(TPP1):c.1496del (p.Pro499fs)	rs756963463
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)	rs756963463
NM_000391.4(TPP1):c.1497del (p.Gly501fs)	rs1554901523
NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter)	rs2134590841
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)	rs763961289
NM_000391.4(TPP1):c.1548_1551dup (p.Val518Ter)	rs762583993
NM_000391.4(TPP1):c.1551+1G>A	rs786204553
NM_000391.4(TPP1):c.1551+1G>T	rs786204553
NM_000391.4(TPP1):c.1551+1del
NM_000391.4(TPP1):c.1558del (p.Arg520fs)	rs2134590532
NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)	rs1554901472
NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr)
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	rs2134590423
NM_000391.4(TPP1):c.1653dup (p.Asn552fs)
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)	rs759664259
NM_000391.4(TPP1):c.1679_1683del (p.Leu560fs)
NM_000391.4(TPP1):c.175_195del (p.Glu59_Val65del)
NM_000391.4(TPP1):c.177_194del (p.Arg60_Val65del)	rs2134597918
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)	rs1554902216
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)	rs759080581
NM_000391.4(TPP1):c.288_289dup (p.His97fs)
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	rs202189057
NM_000391.4(TPP1):c.337dup (p.Ser113fs)
NM_000391.4(TPP1):c.357dup (p.Leu120fs)	rs1554902085
NM_000391.4(TPP1):c.376_380+6del	rs1414255979
NM_000391.4(TPP1):c.382C>T (p.Gln128Ter)
NM_000391.4(TPP1):c.38_68del (p.Leu13fs)	rs2134598751
NM_000391.4(TPP1):c.3G>C (p.Met1Ile)	rs2134599310
NM_000391.4(TPP1):c.408del (p.Glu137fs)	rs2134595789
NM_000391.4(TPP1):c.419del (p.His140fs)
NM_000391.4(TPP1):c.441_443delinsGGACCTACGGAGGACCTACGGAGGACCA (p.Thr148fs)
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)	rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	rs553522118
NM_000391.4(TPP1):c.472C>T (p.Gln158Ter)	rs2134595625
NM_000391.4(TPP1):c.496del (p.His166fs)
NM_000391.4(TPP1):c.496dup (p.His166fs)
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs)	rs1554902020
NM_000391.4(TPP1):c.509-1G>A	rs56144125
NM_000391.4(TPP1):c.509-1G>T	rs56144125
NM_000391.4(TPP1):c.509-2A>G	rs1855599946
NM_000391.4(TPP1):c.520_524del (p.His174fs)
NM_000391.4(TPP1):c.52A>T (p.Lys18Ter)	rs1469902314
NM_000391.4(TPP1):c.550C>T (p.Gln184Ter)
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)	rs121908205
NM_000391.4(TPP1):c.606dup (p.Ser203fs)
NM_000391.4(TPP1):c.609dup (p.Val204fs)	rs1057516366
NM_000391.4(TPP1):c.617del (p.Arg206fs)
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg)	rs1855595805
NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter)
NM_000391.4(TPP1):c.754_757del (p.Ala252fs)	rs2134594449
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter)	rs1131691539
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)	rs1405952769
NM_000391.4(TPP1):c.806_810del (p.Ala269fs)
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	rs119455958
NM_000391.4(TPP1):c.917del (p.Gln306fs)
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)	rs886041487
NM_000391.4(TPP1):c.941_942del (p.Glu314fs)	rs1855587043
NM_000391.4(TPP1):c.966del (p.Thr322_Val323insTer)
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)	rs778232650

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