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_000251.3(MSH2):c.2634+5G>T	MSH2	Likely pathogenic	2	47708015	47708015	G	T	criteria provided, single submitter	ClinGen:CA020841
single nucleotide variant	NM_000251.3(MSH2):c.2634G>A (p.Glu878=)	MSH2	Pathogenic	2	47708010	47708010	G	A	reviewed by expert panel	ClinGen:CA020844
single nucleotide variant	NM_000251.3(MSH2):c.2635-1G>T	MSH2	Likely pathogenic	2	47709917	47709917	G	T	reviewed by expert panel	ClinGen:CA020850
Deletion	NM_000251.1(MSH2):c.2635-?_(*272_?)del	MSH2	Pathogenic	2	47709918	47710360	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)	MSH2	Pathogenic	2	47709918	47709918	C	T	reviewed by expert panel	ClinGen:CA020860
Deletion	NM_000251.3(MSH2):c.263_264del (p.Phe88fs)	MSH2	Pathogenic	2	47635589	47635590	CTT	C	reviewed by expert panel	ClinGen:CA020823
Deletion	NM_000251.3(MSH2):c.2647del (p.Ile883fs)	MSH2	Pathogenic	2	47709925	47709925	GA	G	reviewed by expert panel	ClinGen:CA020866
Duplication	NM_000251.3(MSH2):c.2647dup (p.Ile883fs)	MSH2	Pathogenic	2	47709924	47709925	G	GA	reviewed by expert panel	ClinGen:CA020863
single nucleotide variant	NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)	MSH2	Pathogenic	2	47709936	47709936	C	T	reviewed by expert panel	ClinGen:CA020873
Deletion	NM_000251.3(MSH2):c.2662del (p.Leu888fs)	MSH2	Pathogenic	2	47709944	47709944	TC	T	reviewed by expert panel	ClinGen:CA020882