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.2246_2250del (p.Glu749fs)	MSH2	Pathogenic	2	47705444	47705448	ATGAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655742
Deletion	NM_000251.3(MSH2):c.443del (p.Val148fs)	MSH2	Pathogenic	2	47637309	47637309	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655685
Indel	NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter)	MSH2	Pathogenic	2	47705621	47705622	TG	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655768
Deletion	NM_000251.3(MSH2):c.1350del (p.Gln451fs)	MSH2	Pathogenic	2	47672758	47672758	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655687
single nucleotide variant	NM_000251.3(MSH2):c.942G>T (p.Gln314His)	MSH2	Likely pathogenic	2	47641557	47641557	G	T	criteria provided, single submitter	ClinGen:CA346733025
single nucleotide variant	NM_000251.3(MSH2):c.1355A>T (p.Glu452Val)	MSH2	Likely pathogenic	2	47672765	47672765	A	T	criteria provided, single submitter	ClinGen:CA346724736
single nucleotide variant	NM_000251.3(MSH2):c.2458+1G>T	MSH2	Pathogenic/Likely pathogenic	2	47705659	47705659	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346730324
single nucleotide variant	NM_000179.3(MSH6):c.3G>C (p.Met1Ile)	MSH6	Pathogenic	2	48010375	48010375	G	C	criteria provided, single submitter	ClinGen:CA346734463
Duplication	NM_000251.3(MSH2):c.2593dup (p.Ile865fs)	MSH2	Pathogenic	2	47707968	47707969	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655785
Duplication	NM_000251.3(MSH2):c.1784dup (p.Asn596fs)	MSH2	Pathogenic	2	47702187	47702188	C	CT	criteria provided, single submitter	ClinGen:CA658655691