Deletion | NM_000535.7(PMS2):c.2357_2445+510del | PMS2 | Pathogenic | 7 | 6016709 | 6017307 | CGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCA | C | criteria provided, single submitter | - |
Deletion | NM_000535.7(PMS2):c.2276-91_2445+790del | PMS2 | Pathogenic | 7 | 6016429 | 6017479 | AGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTG | A | reviewed by expert panel | ClinGen:CA331754 |
Deletion | NM_000535.7(PMS2):c.2276-113_2445+1596del | PMS2 | Pathogenic | 7 | 6015623 | 6017501 | AGCACTTTGGGAGACCAAGGCGGGCAGATCATGAGGTCAGGAGATCAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTATTAAAAATATAAAAATTAGCCAGGTGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACATCACTGCACTCCAGCCTAGTAACAGAGCGAGACTCCGTCTCAAAAACAGACAAAGAAAAATGCTGTTTGAATCTCTTGACTGTGCTTACTGGCATCTAATGCGTGTCATTTATTTGTGGTGATGCCTATTTCTCCCCACTGTCTGCTCCACAGGGGCAGGGGCTGCAGCCGCCTTGTTACCTCTGTGTCCCGAGCACCTGGAGCAGGGCGGGCCCCACATCAGGGGCTCAAGGAGCACCTGCTGAATAAATAAAGGAATGGCGTCCTGGCCCTTCCCAGTGGCCAGCTGATACACAGTCACTTTTCTTGGACATCAGGCTAATCCCCACTGCAGGCAGAACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCT | A | reviewed by expert panel | ClinGen:CA331753 |
single nucleotide variant | NM_000535.7(PMS2):c.2446-2A>G | PMS2 | Likely pathogenic | 7 | 6013175 | 6013175 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588431 |
single nucleotide variant | NM_000535.7(PMS2):c.2446-1G>T | PMS2 | Likely pathogenic | 7 | 6013174 | 6013174 | C | A | criteria provided, single submitter | ClinGen:CA10578640 |
Deletion | NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7) | PMS2 | Pathogenic | 7 | 6013174 | 6029430 | na | na | reviewed by expert panel | LOVD 3:PMS2_00080,PMS2 @ LOVD:PMS2_00080,OMIM:600259.0018 |
Duplication | NM_000535.7(PMS2):c.2458dup (p.Thr820fs) | PMS2 | Pathogenic | 7 | 6013160 | 6013161 | G | GT | criteria provided, single submitter | ClinGen:CA645372835 |
Deletion | NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) | PMS2 | Likely pathogenic | 7 | 6013118 | 6013119 | CAT | C | criteria provided, single submitter | ClinGen:CA10577330 |
Indel | NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) | PMS2 | Pathogenic | 7 | 6013118 | 6013119 | AT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011585 |
single nucleotide variant | NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013113 | 6013113 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011600 |