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.1579dup (p.Cys527fs)	MSH2	Pathogenic	2	47693864	47693865	C	CT	criteria provided, single submitter	ClinGen:CA658655659
single nucleotide variant	NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	MSH2	Pathogenic/Likely pathogenic	2	47693947	47693947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA030195
single nucleotide variant	NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)	MSH2	Pathogenic	2	47698123	47698123	G	T	criteria provided, single submitter	ClinGen:CA346728073
Deletion	NM_000251.3(MSH2):c.1794_1803del (p.Val598_Leu599insTer)	MSH2	Pathogenic	2	47702198	47702207	TGTTAGCTCAG	T	criteria provided, single submitter	ClinGen:CA658655694
single nucleotide variant	NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser)	MSH2	Likely pathogenic	2	47698201	47698201	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728238
Deletion	NM_000251.3(MSH2):c.1042del (p.Gln348fs)	MSH2	Pathogenic	2	47643534	47643534	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655653
Duplication	NM_000251.3(MSH2):c.192dup (p.Lys65fs)	MSH2	Pathogenic	2	47630521	47630522	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655669
Deletion	NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)	MSH2	Pathogenic	2	47702346	47702349	AATTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655713
Deletion	NM_000251.3(MSH2):c.2013del (p.Asn671fs)	MSH2	Pathogenic	2	47703513	47703513	AT	A	criteria provided, single submitter	ClinGen:CA658655727
single nucleotide variant	NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)	MSH2	Pathogenic/Likely pathogenic	2	47703539	47703539	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346729131