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.1024_1038+1del	MLH1	Pathogenic/Likely pathogenic	3	37061935	37061950	TCCAGGATGTACTTCAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683307
single nucleotide variant	NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)	MLH1	Pathogenic	3	37038192	37038192	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352035488
Deletion	NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)	MSH6	Pathogenic/Likely pathogenic	2	48033724	48033739	GTTATTCAAAAGGGACA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683259
Deletion	NM_000535.7(PMS2):c.1970del (p.Asn657fs)	PMS2	Pathogenic/Likely pathogenic	7	6026426	6026426	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683463
Indel	NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)	PMS2	Likely pathogenic	7	6037019	6037027	AGGGGGCAG	CTTCACAGCACAGC	criteria provided, single submitter	ClinGen:CA658683474
single nucleotide variant	NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	PMS2	Pathogenic/Likely pathogenic	7	6026487	6026487	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366739308
Deletion	NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs)	MSH6	Pathogenic	2	48027995	48027996	CAG	C	criteria provided, single submitter	ClinGen:CA658683237
Duplication	NM_000179.3(MSH6):c.3909_3913dup (p.Leu1305fs)	MSH6	Likely pathogenic	2	48033695	48033696	A	AGCAAG	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2005del (p.Ser669fs)	PMS2	Pathogenic	7	6026391	6026391	CT	C	criteria provided, single submitter	ClinGen:CA046194
Duplication	NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)	MSH6	Pathogenic	2	48027859	48027860	G	GAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795772