Variants
PTEN variants
The 238 PTEN variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A34P | c.100G>C | Exon 2 | 87,894,045 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A39T | c.115G>A | Exon 2 | 87,894,060 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A39V | c.116C>T | Exon 2 | 87,894,061 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A148Hfs*5 | c.441_442delinsA | Exon 5 | 87,933,200 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 87,864,470 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.80-1G>C | Intron 1 | 87,894,024 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.106G>A | Exon 2 | 87,894,051 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.165-1G>A | Intron 2 | 87,925,512 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.165-1G>C | Intron 2 | 87,925,512 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.209+1_209+4del | Exon 3 | 87,925,557 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.209+4A>G | Intron 3 | 87,925,561 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.209+5G>C | Intron 3 | 87,925,562 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.210-4_210-1del | Intron 3 | 87,931,041 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.492+1G>T | Intron 5 | 87,933,252 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.492+2T>G | Intron 5 | 87,933,253 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.493-2A>G | Intron 5 | 87,952,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.634+2T>C | Intron 6 | 87,952,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.634+5G>A | Intron 6 | 87,952,264 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.634+5G>C | Intron 6 | 87,952,264 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.635-3C>G | Intron 6 | 87,957,850 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.802-1del | Intron 7 | 87,960,892 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.802-2A>T | Intron 7 | 87,960,892 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.802-2del | Intron 7 | 87,960,891 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1026+1G>A | Intron 8 | 87,961,119 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1027-1G>A | Intron 8 | 87,965,286 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1027-1852A>G | Intron 8 | 87,963,435 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1212A>C | Exon 9 | 87,965,472 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C71W | c.213T>G | Exon 4 | 87,931,049 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C71Y | c.212G>A | Exon 4 | 87,931,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C105Y | c.314G>A | Exon 5 | 87,933,073 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C124R | c.370T>C | Exon 5 | 87,933,129 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C136W | c.408T>G | Exon 5 | 87,933,167 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C136Y | c.407G>A | Exon 5 | 87,933,166 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C211W | c.633C>G | Exon 6 | 87,952,258 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D22H | c.64G>C | Exon 1 | 87,864,533 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D22Y | c.64G>T | Exon 1 | 87,864,533 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D24H | c.70G>C | Exon 1 | 87,864,539 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D24N | c.70G>A | Exon 1 | 87,864,539 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D52del | c.155_157del | Exon 2 | 87,894,094 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D92E | c.276C>G | Exon 5 | 87,933,035 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D107V | c.320A>T | Exon 5 | 87,933,079 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D107Y | c.319G>T | Exon 5 | 87,933,078 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D252G | c.755A>G | Exon 7 | 87,957,973 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D268Tfs*8 | c.801del | Exon 7 | 87,958,018 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E91X | c.270dup | Exon 5 | 87,933,025 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E157X | c.469G>T | Exon 5 | 87,933,228 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E256X | c.766G>T | Exon 7 | 87,957,984 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F200S | c.599T>C | Exon 6 | 87,952,224 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F241S | c.722T>C | Exon 7 | 87,957,940 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G20V | c.59G>T | Exon 1 | 87,864,528 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G36E | c.107G>A | Exon 2 | 87,894,052 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G36R | c.106G>C | Exon 2 | 87,894,051 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G44D | c.131G>A | Exon 2 | 87,894,076 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G127E | c.380G>A | Exon 5 | 87,933,139 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G132D | c.395G>A | Exon 5 | 87,933,154 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G165R | c.493G>A | Exon 6 | 87,952,118 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G251V | c.752G>T | Exon 7 | 87,957,970 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H61D | c.181C>G | Exon 3 | 87,925,529 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H61R | c.182A>G | Exon 3 | 87,925,530 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H93P | c.278A>C | Exon 5 | 87,933,037 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H93R | c.278A>G | Exon 5 | 87,933,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H123D | c.367C>G | Exon 5 | 87,933,126 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H123R | c.368A>G | Exon 5 | 87,933,127 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H141P | c.422A>C | Exon 5 | 87,933,181 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H196Tfs*3 | c.586del | Exon 6 | 87,952,210 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I33del | c.97_99del | Exon 2 | 87,894,038 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I50T | c.149T>C | Exon 2 | 87,894,094 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K6E | c.16A>G | Exon 1 | 87,864,485 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K66N | c.198G>T | Exon 3 | 87,925,546 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K125E | c.373A>G | Exon 5 | 87,933,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K254Rfs*42 | c.761_765del | Exon 7 | 87,957,977 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K267N | c.801G>T | Exon 7 | 87,958,019 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K322X | c.964A>T | Exon 8 | 87,961,056 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L23V | c.67T>G | Exon 1 | 87,864,536 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L57W | c.170T>G | Exon 3 | 87,925,518 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L70P | c.209T>C | Exon 3 | 87,925,557 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L112V | c.334C>G | Exon 5 | 87,933,093 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L181P | c.542T>C | Exon 6 | 87,952,167 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L247S | c.740T>C | Exon 7 | 87,957,958 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L295Rfs*7 | c.884_900delinsG | Exon 8 | 87,960,976 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L316P | c.947T>C | Exon 8 | 87,961,039 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L320S | c.959T>C | Exon 8 | 87,961,051 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L345P | c.1034T>C | Exon 9 | 87,965,294 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M35R | c.104T>G | Exon 2 | 87,894,049 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M35V | c.103A>G | Exon 2 | 87,894,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M134I | c.402G>C | Exon 5 | 87,933,161 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M134V | c.400A>G | Exon 5 | 87,933,159 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N31D | c.91A>G | Exon 2 | 87,894,036 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N329Kfs*14 | c.987_990del | Exon 8 | 87,961,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P38H | c.113C>A | Exon 2 | 87,894,058 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P38L | c.113C>T | Exon 2 | 87,894,058 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P95L | c.284C>T | Exon 5 | 87,933,043 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P96L | c.287C>T | Exon 5 | 87,933,046 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P204A | c.610C>G | Exon 6 | 87,952,235 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P246L | c.737C>T | Exon 7 | 87,957,955 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q17Rfs*26 | c.50_51del | Exon 1 | 87,864,518 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q171E | c.511C>G | Exon 6 | 87,952,136 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q171R | c.512A>G | Exon 6 | 87,952,137 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q171X | c.511C>T | Exon 6 | 87,952,136 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q298X | c.892C>T | Exon 8 | 87,960,984 | Pathogenic | 3 stars out of 4 reviewed by expert panel |