| - GRCh37:
- Chr7:6026493
- GRCh38:
- Chr7:5986862
| PMS2 | E324*, E378*, E444*, E448*, E464*, E477*, E480*, E500*, E513*, E523*, E527*, E529*, E532*, E569*, E579*, E583*, E599*, E635*, E643*, E697* | Mismatch repair cancer syndrome 4 | Pathogenic
(Jul 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:6038806
- GRCh38:
- Chr7:5999175
| PMS2 | P101L, P107L, P110L, P213L, P221L, P275L, P78L | Mismatch repair cancer syndrome 4 | Uncertain significance
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:6037057
- GRCh38:
- Chr7:5997426
| PMS2 | | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026390-6027251
| PMS2 | | Lynch syndrome 4, Mismatch repair cancer syndrome 4 | not provided | no assertion provided |
| - GRCh37:
- Chr7:6038871
- GRCh38:
- Chr7:5999240
| PMS2 | Y56*, Y191*, Y85*, Y88* | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
| Pathogenic
(Sep 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038908
- GRCh38:
- Chr7:5999277
| PMS2 | | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary cancer-predisposing syndrome
| Likely pathogenic
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026498
- GRCh38:
- Chr7:5986867
| PMS2 | H442R, H446R, H530R, H581R, H633R, H322R, H498R, H527R | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6017242
- GRCh38:
- Chr7:5977611
| PMS2 | A617T, A621T, A808T, A684T, A819T, A497T, A705T, A673T, A702T, A756T | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 4, Lynch syndrome 4
| Uncertain significance
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027231
- GRCh38:
- Chr7:5987600
| PMS2 | A198T, A283T, A389T, A78T, A286T, A202T, A254T, A337T | Hereditary cancer-predisposing syndrome, Lynch syndrome 4, Mismatch repair cancer syndrome 4,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(May 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026945
- GRCh38:
- Chr7:5987314
| PMS2 | P173R, P484R, P378R, P293R, P349R, P432R, P297R, P381R | Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026484
- GRCh38:
- Chr7:5986853
| PMS2 | Q451fs, Q327fs, Q447fs, Q503fs, Q532fs, Q535fs, Q586fs, Q638fs | Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colorectal neoplasms,
Mismatch repair cancer syndrome 4 | Pathogenic/Likely pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6031663
- GRCh38:
- Chr7:5992032
| PMS2 | Y310C, Y207C, Y119C, Y175C, Y204C | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6022621
- GRCh38:
- Chr7:5982990
| PMS2 | K670E, K479E, K567E, K359E, K483E, K535E, K564E, K618E | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified,
Lynch syndrome 4, Mismatch repair cancer syndrome 4 | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026790
- GRCh38:
- Chr7:5987159
| PMS2 | Q536*, Q345*, Q401*, Q433*, Q225*, Q484*, Q349*, Q430* | Mismatch repair cancer syndrome 4, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6022486
- GRCh38:
- Chr7:5982855
| PMS2 | H715Y, H528Y, H609Y, H612Y, H404Y, H524Y, H663Y, H580Y | Lynch syndrome 4, Lynch syndrome 4, Mismatch repair cancer syndrome 4,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038907
- GRCh38:
- Chr7:5999276
| PMS2 | | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 4, not provided,
Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Feb 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026710
- GRCh38:
- Chr7:5987079
| PMS2 | F562L, F371L, F456L, F251L, F427L, F375L, F510L, F459L | Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 4,
Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6042083
- GRCh38:
- Chr7:6002452
| PMS2 | | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colorectal neoplasms, not provided | Pathogenic/Likely pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6031688
- GRCh38:
- Chr7:5992057
| PMS2 | V302F, V167F, V199F, V111F, V196F | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026679-6026682
- GRCh38:
- Chr7:5987048-5987051
| PMS2 | | not specified, Lynch syndrome 4, Mismatch repair cancer syndrome 4,
Hereditary nonpolyposis colorectal neoplasms, not provided | Conflicting interpretations of pathogenicity
(May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6013032
- GRCh38:
- Chr7:5973401
| PMS2 | | Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 4, Lynch syndrome 4,
Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6042235
- GRCh38:
- Chr7:6002604
| PMS2 | A129V, A26V, A23V | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Lynch syndrome 4,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Apr 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6026618
- GRCh38:
- Chr7:5986987
| PMS2 | K402fs, K458fs, K487fs, K541fs, K593fs, K282fs, K406fs, K490fs | Mismatch repair cancer syndrome 4, Lynch syndrome 4, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6017218
- GRCh38:
- Chr7:5977587
| PMS2 | | Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4,
Lynch syndrome 4, Hereditary cancer-predisposing syndrome, not provided,
not specified, Lynch syndrome 4 | Pathogenic/Likely pathogenic
(Sep 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038813
- GRCh38:
- Chr7:5999182
| PMS2 | R211*, R76*, R105*, R108* | Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome, not provided,
Mismatch repair cancer syndrome 4, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6022586
- GRCh38:
- Chr7:5982955
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 4,
Mismatch repair cancer syndrome 4 | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6031630
- GRCh38:
- Chr7:5991999
| PMS2 | V321A, V10A, V130A, V218A, V186A, V215A | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Ovarian cancer,
not specified, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms,
not provided, Lynch syndrome 4 | Conflicting interpretations of pathogenicity
(Apr 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6048643
- GRCh38:
- Chr7:6009012
| PMS2 | R3Q | Mismatch repair cancer syndrome 4, Lynch syndrome 4, not specified,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6042083
- GRCh38:
- Chr7:6002452
| PMS2 | | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, Lynch syndrome | Likely pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026394
- GRCh38:
- Chr7:5986763
| PMS2 | I668V, I477V, I565V, I357V, I616V, I481V, I533V, I562V | Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6045573
- GRCh38:
- Chr7:6005942
| PMS2 | A38V | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
not provided, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
Lynch syndrome 4 | Uncertain significance
(Aug 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026820
- GRCh38:
- Chr7:5987189
| PMS2 | D526Y, D339Y, D391Y, D420Y, D474Y, D335Y, D215Y, D423Y | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not specified, not provided
| Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6042119
- GRCh38:
- Chr7:6002488
| PMS2 | V168M, V62M, V65M, V33M | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary cancer-predisposing syndrome,
not provided, Hereditary nonpolyposis colorectal neoplasms | Uncertain significance
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027116
- GRCh38:
- Chr7:5987485
| PMS2 | R427H, R375H, R116H, R236H, R324H, R292H, R321H, R240H | Lynch syndrome 4, Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 4
| Conflicting interpretations of pathogenicity
(Jun 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6031648
- GRCh38:
- Chr7:5992017
| PMS2 | R315Q, R180Q, R212Q, R4Q, R209Q, R124Q | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Lynch syndrome, Lynch syndrome 4 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6043612
- GRCh38:
- Chr7:6003981
| PMS2 | E81K, R9Q | Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified, not provided, Lynch syndrome 4
| Uncertain significance
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6018262
- GRCh38:
- Chr7:5978631
| PMS2 | R747T, R436T, R612T, R641T, R644T, R695T, R556T, R560T | not provided, Lynch syndrome, Lynch syndrome 4,
Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
not specified | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026958
- GRCh38:
- Chr7:5987327
| PMS2 | G480R, G169R, G428R, G289R, G345R, G377R, G293R, G374R | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided, BAP1-related tumor predisposition syndrome
| Uncertain significance
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6031690
- GRCh38:
- Chr7:5992059
| PMS2 | | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided, Lynch syndrome 4
| Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026929
- GRCh38:
- Chr7:5987298
| PMS2 | | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not specified, not provided
| Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6038791
- GRCh38:
- Chr7:5999160
| PMS2 | G218D, G112D, G83D, G115D | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026709
- GRCh38:
- Chr7:5987078
| PMS2 | R563*, R428*, R457*, R460*, R511*, R252*, R372*, R376* | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colon cancer,
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not provided,
Lynch syndrome 4 | Pathogenic
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6026775
- GRCh38:
- Chr7:5987144
| PMS2 | K541E, K406E, K354E, K438E, K489E, K230E, K350E, K435E | Mismatch repair cancer syndrome 4, Hereditary nonpolyposis colorectal neoplasms, not specified,
Lynch syndrome 4 | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6027162
- GRCh38:
- Chr7:5987531
| PMS2 | K412E, K309E, K277E, K306E, K360E, K101E, K221E, K225E | Mismatch repair cancer syndrome 4, Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms,
Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6035211
- GRCh38:
- Chr7:5995580
| PMS2 | D286G, D151G, D180G, D183G, D95G | Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
not specified, not provided, Turcot syndrome,
Lynch syndrome 4, Lynch syndrome, Lynch syndrome 4
| Conflicting interpretations of pathogenicity
(May 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6022449
- GRCh38:
- Chr7:5982818
| PMS2 | | Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4, Lynch syndrome 4,
Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6022521
- GRCh38:
- Chr7:5982890
| PMS2 | T703M, T516M, T568M, T597M, T392M, T651M, T512M, T600M | Lynch syndrome 4, Mismatch repair cancer syndrome 4, not specified,
not provided, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome,
Lynch syndrome 4 | Conflicting interpretations of pathogenicity
(Apr 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6029588
- GRCh38:
- Chr7:5989957
| PMS2 | | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6035204-6035207
- GRCh38:
- Chr7:5995573-5995576
| PMS2 | R152fs, R181fs, R184fs, R287fs, R96fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6017300-6017303
- GRCh38:
- Chr7:5977669-5977672
| PMS2 | F601fs, F653fs, F682fs, F685fs, F597fs, F788fs, F477fs, F664fs, F736fs, F799fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6018256-6018259
- GRCh38:
- Chr7:5978625-5978628
| PMS2 | K561fs, K696fs, K557fs, K645fs, K437fs, K613fs, K642fs, K748fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6018315-6018316
- GRCh38:
- Chr7:5978684-5978685
| PMS2 | L538fs, L729fs, L542fs, L626fs, L677fs, L418fs, L594fs, L623fs | Lynch syndrome | Uncertain significance
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6048650
- GRCh38:
- Chr7:6009019
| PMS2 | M1V | Lynch syndrome 1 | Likely pathogenic
(Jun 30, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr7:6026457
- GRCh38:
- Chr7:5986826
| PMS2 | K647*, K456*, K544*, K336*, K512*, K595*, K460*, K541* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043671
- GRCh38:
- Chr7:6004040
| PMS2 | Y61fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6027226-6027227
- GRCh38:
- Chr7:5987595-5987596
| PMS2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6013174-6029430
| PMS2 | | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6026708
- GRCh38:
- Chr7:5987077
| PMS2 | R563L, R372L, R460L, R428L, R376L, R457L, R252L, R511L | Lynch syndrome | Likely benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6036980
- GRCh38:
- Chr7:5997349
| PMS2 | | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6038722
- GRCh38:
- Chr7:5999091
| PMS2 | | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6026988
- GRCh38:
- Chr7:5987357
| PMS2 | P470S, P279S, P283S, P335S, P418S, P159S, P364S, P367S | Lynch syndrome | Benign
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6043634
- GRCh38:
- Chr7:6004003
| PMS2 | C73*, W2R | Mismatch repair cancer syndrome 4 | Pathogenic
(Jun 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr7:6045549
- GRCh38:
- Chr7:6005918
| PMS2 | S46I | Lynch syndrome | Likely pathogenic
(Jun 21, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:6026664-6026665
- GRCh38:
- Chr7:5987033-5987034
| PMS2 | R443fs, R267fs, R387fs, R475fs, R578fs, R391fs, R472fs, R526fs | not provided, Hereditary cancer-predisposing syndrome, Lynch syndrome 4
| Pathogenic/Likely pathogenic
(Jan 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:6017260
- GRCh38:
- Chr7:5977629
| PMS2 | R802*, R491*, R696*, R699*, R611*, R750*, R615*, R667*, R678*, R813* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6027175
- GRCh38:
- Chr7:5987544
| PMS2 | T273fs, T217fs, T305fs, T97fs, T221fs, T302fs, T408fs, T356fs | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |
| - GRCh37:
- Chr7:6042221
- GRCh38:
- Chr7:6002590
| PMS2 | R134*, R31*, R28* | Lynch syndrome | Pathogenic
(Sep 5, 2013) | reviewed by expert panel |