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.2314del (p.Thr772fs)	MSH2	Pathogenic	2	47705513	47705513	CA	C	criteria provided, single submitter	ClinGen:CA645369208
Indel	NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs)	MSH2	Pathogenic	2	47705533	47705534	GC	T	criteria provided, single submitter	ClinGen:CA645369209
Duplication	NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)	MSH2	Pathogenic	2	47705579	47705580	G	GATACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369201
Deletion	NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)	MSH2	Pathogenic	2	47705592	47705595	TAATA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369203
single nucleotide variant	NM_000251.3(MSH2):c.2402A>C (p.His801Pro)	MSH2	Likely pathogenic	2	47705602	47705602	A	C	criteria provided, single submitter	ClinGen:CA346730191
Duplication	NM_000251.3(MSH2):c.2413dup (p.Leu805fs)	MSH2	Pathogenic	2	47705612	47705613	A	AC	criteria provided, single submitter	ClinGen:CA645369211
Deletion	NM_000251.3(MSH2):c.2459-6_2459-2del	MSH2	Pathogenic/Likely pathogenic	2	47707829	47707833	CTTATA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369157
Indel	NM_000251.3(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer)	MSH2	Pathogenic	2	47707896	47707897	AA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369231
Deletion	NM_000251.3(MSH2):c.2562del (p.Gln855fs)	MSH2	Pathogenic/Likely pathogenic	2	47707936	47707936	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369232
single nucleotide variant	NM_000251.3(MSH2):c.2635-2A>C	MSH2	Likely pathogenic	2	47709916	47709916	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346731300