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
Duplication	NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)	MSH6	Pathogenic	2	48030638	48030639	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795740
Deletion	NM_000179.3(MSH6):c.3371del (p.Asn1124fs)	MSH6	Pathogenic	2	48030754	48030754	GA	G	criteria provided, single submitter	ClinGen:CA658795742
Duplication	NM_000179.3(MSH6):c.3646+1dup	MSH6	Likely pathogenic	2	48032845	48032846	A	AG	criteria provided, single submitter	ClinGen:CA658795750
Duplication	NM_000179.3(MSH6):c.2748dup (p.Asp917Ter)	MSH6	Pathogenic	2	48027867	48027868	C	CT	criteria provided, single submitter	ClinGen:CA658795773
single nucleotide variant	NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)	MSH6	Pathogenic/Likely pathogenic	2	48028140	48028140	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756433
Deletion	NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)	MSH6	Pathogenic/Likely pathogenic	2	48028229	48028230	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795735
Deletion	NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)	MSH6	Pathogenic	2	48033730	48033742	CAAAAGGGACATAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795759
Deletion	NC_000003.12:g.(?_36993051)_(37004480_?)del	MLH1	Pathogenic	3	37034542	37045971	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_37040180)_(37050659_?)del	MLH1	Pathogenic	3	37081671	37092150	na	na	criteria provided, single submitter	-
Indel	NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)	MLH1	Pathogenic	3	37038188	37038188	C	ATCTT	criteria provided, single submitter	ClinGen:CA658796261