List of variants in gene PTEN reported as pathogenic for Cowden syndrome 1

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 59

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HGVS	dbSNP
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)	rs587776672
NM_000314.7(PTEN):c.-764G>A	rs587776674
NM_000314.7(PTEN):c.-861G>T	rs587776675
NM_000314.7(PTEN):c.1016del (p.Pro339fs)	rs1554825643
NM_000314.7(PTEN):c.1026+1G>A	rs786201041
NM_000314.7(PTEN):c.1026+1G>C	rs786201041
NM_000314.7(PTEN):c.1027-2A>C	rs1085308041
NM_000314.7(PTEN):c.165-1G>C	rs786203847
NM_000314.7(PTEN):c.165-2A>G	rs1085308043
NM_000314.7(PTEN):c.209+4_209+7del	rs398123318
NM_000314.7(PTEN):c.209+5G>A	rs1114167650
NM_000314.7(PTEN):c.210-1G>A	rs1114167621
NM_000314.7(PTEN):c.253+1G>A	rs587776667
NM_000314.7(PTEN):c.253+1G>T	rs587776667
NM_000314.7(PTEN):c.253+5G>A	rs1554897889
NM_000314.7(PTEN):c.253+5G>T	rs1554897889
NM_000314.7(PTEN):c.368A>G (p.His123Arg)	rs121909222
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg)	rs121909223
NM_000314.7(PTEN):c.385G>C (p.Gly129Arg)	rs786204929
NM_000314.7(PTEN):c.386G>A (p.Gly129Glu)	rs121909218
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln)	rs121909229
NM_000314.7(PTEN):c.395G>T (p.Gly132Val)	rs121909241
NM_000314.7(PTEN):c.492+1G>T	rs1554898242
NM_000314.7(PTEN):c.492+2T>G	rs1554898244
NM_000314.7(PTEN):c.493-2A>G	rs587781784
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg)	rs121909221
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser)	rs794729664
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter)	rs121909232
NM_000314.7(PTEN):c.634+1G>C	rs1114167622
NM_000314.7(PTEN):c.634+2T>C	rs727504114
NM_000314.7(PTEN):c.634+4A>T	rs1554900675
NM_000314.7(PTEN):c.634+5G>C	rs138336847
NM_000314.7(PTEN):c.635-1G>C	rs876661024
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter)	rs121909227
NM_000314.7(PTEN):c.654C>A (p.Cys218Ter)	rs1554825165
NM_000314.7(PTEN):c.696del (p.Arg233fs)	rs587776669
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter)	rs121909228
NM_000314.7(PTEN):c.79+7A>G	rs374331677
NM_000314.7(PTEN):c.802-2A>G	rs587782455
NM_000314.7(PTEN):c.802-2A>T	rs587782455
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.180del (p.Lys60fs)	rs1589640429
NM_000314.8(PTEN):c.210-2_211del	rs1554897854
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	rs202004587
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000314.8(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer)	rs146650273
NM_001304718.2(PTEN):c.-362del	rs121913292
NM_001304718.2(PTEN):c.-404_-400del	rs587776666
NM_001304718.2(PTEN):c.-541-5489T>C	rs121909226
NM_001304718.2(PTEN):c.-58_-57delinsAT	rs397515374
NM_001304718.2(PTEN):c.-602T>G	rs121909225
NM_001304718.2(PTEN):c.-666dup	rs587776671
NM_001304718.2(PTEN):c.-6del	rs587776670
NM_001304718.2(PTEN):c.-85del	rs587776673
PTEN, CYS124SER
PTEN, DEL

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