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_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)	MSH2	Pathogenic	2	47693849	47693852	ATTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617582
Deletion	NM_000251.3(MSH2):c.1570del (p.Arg524fs)	MSH2	Pathogenic	2	47693856	47693856	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617583
Deletion	NM_000251.3(MSH2):c.1666_1672del (p.Leu556_Thr557insTer)	MSH2	Pathogenic	2	47698108	47698114	ATTGACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617586
Deletion	NM_000251.3(MSH2):c.1760-2_1783del	MSH2	Pathogenic/Likely pathogenic	2	47702160	47702185	TACAGGCTATGTAGAACCAATGCAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617587
Deletion	NM_000251.3(MSH2):c.1883del (p.Gly628fs)	MSH2	Pathogenic	2	47702286	47702286	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617595
single nucleotide variant	NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)	MSH2	Pathogenic	2	47702372	47702372	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617599
single nucleotide variant	NM_000251.3(MSH2):c.2459-2A>G	MSH2	Pathogenic/Likely pathogenic	2	47707833	47707833	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617603
Deletion	NM_000179.3(MSH6):c.255del (p.Thr86fs)	MSH6	Pathogenic	2	48010623	48010623	GC	G	criteria provided, single submitter	ClinGen:CA16617621
Indel	NM_000179.3(MSH6):c.260+2_260+3delinsAG	MSH6	Pathogenic/Likely pathogenic	2	48010634	48010635	TA	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617623
Duplication	NM_000179.3(MSH6):c.469_470dup (p.Glu158fs)	MSH6	Pathogenic	2	48023042	48023043	C	CAA	criteria provided, single submitter	ClinGen:CA16617629