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
single nucleotide variant	NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)	PMS2	Pathogenic	7	6018310	6018310	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612382
single nucleotide variant	NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)	PMS2	Pathogenic	7	6026505	6026505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612391
Deletion	NM_000251.3(MSH2):c.39_48del (p.Ser13fs)	MSH2	Pathogenic	2	47630366	47630375	AGAGCGCGGCC	A	criteria provided, single submitter	ClinGen:CA16617544
Deletion	NM_000251.3(MSH2):c.792+1del	MSH2	Pathogenic/Likely pathogenic	2	47639699	47639699	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617564
Insertion	NM_000251.3(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs)	MSH2	Pathogenic	2	47641421	47641422	C	CTGTACCGCAGATT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617565
Deletion	NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)	MSH2	Pathogenic	2	47641486	47641486	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617566
Duplication	NM_000251.3(MSH2):c.876dup (p.Thr293fs)	MSH2	Pathogenic	2	47641490	47641491	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617567
Deletion	NM_000251.3(MSH2):c.928del (p.Asn311fs)	MSH2	Pathogenic/Likely pathogenic	2	47641541	47641541	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617569
single nucleotide variant	NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)	MSH2	Likely pathogenic	2	47643537	47643537	C	A	criteria provided, single submitter	ClinGen:CA16617573
single nucleotide variant	NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)	MSH2	Pathogenic	2	47690248	47690248	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617580