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_000249.4(MLH1):c.793C>T (p.Arg265Cys)	MLH1	Pathogenic	3	37058999	37058999	C	T	reviewed by expert panel	ClinGen:CA012394,UniProtKB:P40692#VAR_054530,OMIM:120436.0030
Deletion	NC_000003.11:g.37089454_37101079del	MLH1	Pathogenic	3	37089454	37101079	na	na	criteria provided, single submitter	OMIM:120436.0031
single nucleotide variant	NM_000249.4(MLH1):c.1865T>A (p.Leu622His)	MLH1	Pathogenic	3	37089143	37089143	T	A	reviewed by expert panel	ClinGen:CA007237,UniProtKB:P40692#VAR_012927,OMIM:120436.0033
single nucleotide variant	NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	MLH1	Pathogenic	3	37067470	37067470	A	T	reviewed by expert panel	ClinGen:CA005183
single nucleotide variant	NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	MLH1	Pathogenic	3	37042536	37042536	C	T	reviewed by expert panel	ClinGen:CA009575
single nucleotide variant	NM_000249.4(MLH1):c.454-1G>A	MLH1	Pathogenic	3	37050304	37050304	G	A	reviewed by expert panel	ClinGen:CA010570,OMIM:120436.0005
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