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.3846dup (p.Ile1283fs)	MSH6	Pathogenic	2	48033634	48033635	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578166
Deletion	NM_000179.3(MSH6):c.3882del (p.Pro1295fs)	MSH6	Pathogenic	2	48033671	48033671	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578167
Deletion	NM_000179.3(MSH6):c.3955_3980del (p.Lys1319fs)	MSH6	Pathogenic	2	48033743	48033768	GAAAAGCAAGAGAATTTGAGAAGATGA	G	criteria provided, single submitter	ClinGen:CA10578169
Deletion	NM_000249.4(MLH1):c.47_53del (p.Val16fs)	MLH1	Pathogenic	3	37035084	37035090	GGTGAACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578194
Indel	NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)	MLH1	Pathogenic/Likely pathogenic	3	37038167	37038168	GA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578200
Deletion	NM_000249.4(MLH1):c.252del (p.Lys84fs)	MLH1	Pathogenic	3	37042488	37042488	TA	T	criteria provided, single submitter	ClinGen:CA10578205
single nucleotide variant	NM_000249.4(MLH1):c.677+3A>T	MLH1	Pathogenic	3	37053593	37053593	A	T	criteria provided, single submitter	ClinGen:CA10578217
Deletion	NM_000249.4(MLH1):c.691del (p.Ile231fs)	MLH1	Pathogenic	3	37055934	37055934	GA	G	criteria provided, single submitter	ClinGen:CA10578218
Deletion	NM_000249.4(MLH1):c.794_800del (p.Arg265fs)	MLH1	Pathogenic	3	37059000	37059006	CGTCTGGT	C	criteria provided, single submitter	ClinGen:CA10578228
Deletion	NM_000249.4(MLH1):c.918del (p.Asn306fs)	MLH1	Pathogenic	3	37061834	37061834	AT	A	criteria provided, single submitter	ClinGen:CA10578234