リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)	PMS2	Pathogenic/Likely pathogenic	7	6013097	6013097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577334
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
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
Deletion	NM_000535.7(PMS2):c.2500_2501del (p.Met834fs)	PMS2	Likely pathogenic	7	6013118	6013119	CAT	C	criteria provided, single submitter	ClinGen:CA10577330
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.(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
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
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
Deletion	NM_000535.7(PMS2):c.2276-113_2445+1596del	PMS2	Pathogenic	7	6015623	6017501	AGCACTTTGGGAGACCAAGGCGGGCAGATCATGAGGTCAGGAGATCAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTATTAAAAATATAAAAATTAGCCAGGTGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACATCACTGCACTCCAGCCTAGTAACAGAGCGAGACTCCGTCTCAAAAACAGACAAAGAAAAATGCTGTTTGAATCTCTTGACTGTGCTTACTGGCATCTAATGCGTGTCATTTATTTGTGGTGATGCCTATTTCTCCCCACTGTCTGCTCCACAGGGGCAGGGGCTGCAGCCGCCTTGTTACCTCTGTGTCCCGAGCACCTGGAGCAGGGCGGGCCCCACATCAGGGGCTCAAGGAGCACCTGCTGAATAAATAAAGGAATGGCGTCCTGGCCCTTCCCAGTGGCCAGCTGATACACAGTCACTTTTCTTGGACATCAGGCTAATCCCCACTGCAGGCAGAACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCT	A	reviewed by expert panel	ClinGen:CA331753
Deletion	NM_000535.7(PMS2):c.2276-91_2445+790del	PMS2	Pathogenic	7	6016429	6017479	AGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTG	A	reviewed by expert panel	ClinGen:CA331754