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
Deletion	NM_000535.7(PMS2):c.2357_2445+510del	PMS2	Pathogenic	7	6016709	6017307	CGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCA	C	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5977578)_(5983001_?)del	PMS2	Pathogenic	7	6017209	6022632	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5977578)_(5977767_?)del	PMS2	Pathogenic	7	6017209	6017398	na	na	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_5977582)_(5977763_?)del	PMS2	Pathogenic	7	6017213	6017394	na	na	criteria provided, single submitter	-
Deletion	NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del	PMS2	Pathogenic	7	6017214	6029591	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577331
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582495
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>A	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735529
Deletion	NM_000535.6(PMS2):c.2276-?_2445+?del	PMS2	Pathogenic	7	6017219	6017388	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	PMS2	Likely pathogenic	7	6017220	6017220	G	A	reviewed by expert panel	ClinGen:CA011500