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_000249.4(MLH1):c.201dup (p.Ile68fs)	MLH1	Pathogenic	3	37038191	37038192	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617888
single nucleotide variant	NM_000249.4(MLH1):c.230G>C (p.Cys77Ser)	MLH1	Likely pathogenic	3	37042468	37042468	G	C	criteria provided, single submitter	ClinGen:CA16617889
Deletion	NM_000249.4(MLH1):c.283del (p.Ser95fs)	MLH1	Pathogenic/Likely pathogenic	3	37042519	37042519	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617890
Deletion	NM_000249.4(MLH1):c.717del (p.Phe240fs)	MLH1	Pathogenic	3	37055961	37055961	GC	G	criteria provided, single submitter	ClinGen:CA16617900
Deletion	NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer)	MLH1	Pathogenic	3	37056000	37056000	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617901
single nucleotide variant	NM_000249.4(MLH1):c.791-2A>T	MLH1	Pathogenic	3	37058995	37058995	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617902
Deletion	NM_000249.4(MLH1):c.832del (p.Thr278fs)	MLH1	Pathogenic	3	37059036	37059036	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617903
Deletion	NM_000249.4(MLH1):c.1004del (p.Leu335fs)	MLH1	Pathogenic	3	37061920	37061920	CT	C	criteria provided, single submitter	ClinGen:CA16617908
Indel	NM_000249.4(MLH1):c.1079_1087delinsC (p.Val360fs)	MLH1	Pathogenic	3	37067168	37067176	TTAAATCCA	C	criteria provided, single submitter	ClinGen:CA16617909
Deletion	NM_000249.4(MLH1):c.1182del (p.Asp394fs)	MLH1	Pathogenic	3	37067271	37067271	AT	A	criteria provided, single submitter	ClinGen:CA16617911