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_000249.4(MLH1):c.1400del (p.Ser467fs)	MLH1	Pathogenic	3	37067489	37067489	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617915
Duplication	NM_000249.4(MLH1):c.1407dup (p.Arg470fs)	MLH1	Pathogenic	3	37067492	37067493	A	AC	criteria provided, single submitter	ClinGen:CA16617916
single nucleotide variant	NM_000249.4(MLH1):c.1409+1G>T	MLH1	Pathogenic/Likely pathogenic	3	37067499	37067499	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617917
Duplication	NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs)	MLH1	Pathogenic	3	37081753	37081754	C	CAAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617922
Insertion	NM_000249.4(MLH1):c.1736_1737insGT (p.Pro579_Ala580insTer)	MLH1	Pathogenic	3	37089014	37089015	C	CGT	criteria provided, single submitter	ClinGen:CA16617926
Duplication	NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)	MLH1	Pathogenic/Likely pathogenic	3	37090048	37090049	A	ATGTGCCCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617932
Deletion	NM_000249.4(MLH1):c.2089del (p.Leu697fs)	MLH1	Pathogenic	3	37090492	37090492	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617938
single nucleotide variant	NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)	MLH1	Pathogenic	3	37092015	37092015	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616718
Deletion	NM_000535.7(PMS2):c.2533del (p.His845fs)	PMS2	Pathogenic/Likely pathogenic	7	6013086	6013086	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618484
Duplication	NM_000535.7(PMS2):c.1970dup (p.Asn657fs)	PMS2	Pathogenic	7	6026425	6026426	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618495