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_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6	Pathogenic	2	48025772	48025773	A	AT	reviewed by expert panel	ClinGen:CA016144,OMIM:600678.0007
Duplication	NM_000179.3(MSH6):c.3633dup (p.Val1212fs)	MSH6	Pathogenic	2	48032831	48032832	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA340847,OMIM:600678.0015
Duplication	NM_002354.3(EPCAM):c.499dup (p.Gln167fs)	EPCAM	Pathogenic	2	47604159	47604160	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA122702,OMIM:185535.0004
single nucleotide variant	NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	MSH2	Pathogenic	2	47643522	47643522	C	T	reviewed by expert panel	ClinGen:CA016912
Deletion	NM_000251.2(MSH2):c.1077-66_1146del	MSH2	Pathogenic/Likely pathogenic	2	47656812	47656947	ACGTGCTTAGTTGATAAATTTTAATTTTATACTAAAATATTTTACATTAATTCAAGTTAATTTATTTCAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260478
Deletion	NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)	MSH2	Pathogenic	2	47698146	47698147	CAG	C	reviewed by expert panel	ClinGen:CA019065
single nucleotide variant	NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	MSH2	Pathogenic	2	47703538	47703538	C	T	reviewed by expert panel	ClinGen:CA019872
Duplication	NM_000251.3(MSH2):c.860dup (p.Gln288fs)	MSH2	Pathogenic/Likely pathogenic	2	47641473	47641474	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA186235
single nucleotide variant	NM_000251.3(MSH2):c.942+3A>T	MSH2	Pathogenic	2	47641560	47641560	A	T	reviewed by expert panel	ClinGen:CA022585,OMIM:609309.0011,OMIM:609309.0021
Deletion	NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)	MSH6	Pathogenic	2	48033393	48033396	TAAAG	T	reviewed by expert panel	ClinGen:CA013885