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_000251.3(MSH2):c.187dup (p.Val63fs)	MSH2	Pathogenic	2	47630512	47630513	A	AG	reviewed by expert panel	ClinGen:CA019485
single nucleotide variant	NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)	MSH2	Pathogenic	2	47702289	47702289	C	T	reviewed by expert panel	ClinGen:CA019511
Deletion	NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs)	MSH2	Pathogenic	2	47702290	47702293	CAAGG	C	reviewed by expert panel	ClinGen:CA019520
Duplication	NM_000251.3(MSH2):c.1897dup (p.Ile633fs)	MSH2	Pathogenic	2	47702300	47702301	T	TA	reviewed by expert panel	ClinGen:CA331405
Deletion	NM_000251.3(MSH2):c.1911del (p.Arg638fs)	MSH2	Pathogenic	2	47702314	47702314	TC	T	reviewed by expert panel	ClinGen:CA019546
single nucleotide variant	NM_000251.3(MSH2):c.1955C>A (p.Pro652His)	MSH2	Likely pathogenic	2	47702359	47702359	C	A	reviewed by expert panel	ClinGen:CA019605
Duplication	NM_000251.3(MSH2):c.1967_1970dup (p.Phe657fs)	MSH2	Pathogenic	2	47702369	47702370	A	ATACT	reviewed by expert panel	ClinGen:CA331417
single nucleotide variant	NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)	MSH2	Pathogenic	2	47702372	47702372	C	G	reviewed by expert panel	ClinGen:CA019616
Deletion	NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)	MSH2	Pathogenic	2	47702383	47702384	GAT	G	reviewed by expert panel	ClinGen:CA019630
Deletion	NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)	MSH2	Pathogenic	2	47702385	47702388	TAAAC	T	reviewed by expert panel	ClinGen:CA019637