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_000179.3(MSH6):c.3792del (p.Gly1265fs)	MSH6	Pathogenic	2	48033488	48033488	TA	T	criteria provided, single submitter	ClinGen:CA658655737
Deletion	NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)	MSH6	Pathogenic	2	48033738	48033747	ACATAGAAAAG	A	criteria provided, single submitter	ClinGen:CA658655770
single nucleotide variant	NM_000249.4(MLH1):c.272T>G (p.Leu91Ter)	MLH1	Pathogenic	3	37042510	37042510	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352036498
Deletion	NM_000249.4(MLH1):c.542del (p.Gly181fs)	MLH1	Pathogenic	3	37050392	37050392	TG	T	criteria provided, single submitter	ClinGen:CA658655792
Deletion	NM_000249.4(MLH1):c.771del (p.Phe258fs)	MLH1	Pathogenic	3	37056016	37056016	TC	T	criteria provided, single submitter	ClinGen:CA658655801
single nucleotide variant	NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)	MLH1	Pathogenic	3	37061886	37061886	G	T	criteria provided, single submitter	ClinGen:CA352049133
Duplication	NM_000249.4(MLH1):c.783dup (p.Ile262fs)	MLH1	Pathogenic	3	37056027	37056028	T	TC	criteria provided, single submitter	ClinGen:CA658655803
Duplication	NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)	MSH6	Pathogenic	2	48032820	48032821	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655729
Deletion	NM_000249.4(MLH1):c.339del (p.Thr114fs)	MLH1	Pathogenic	3	37045923	37045923	GT	G	criteria provided, single submitter	ClinGen:CA658655769
Duplication	NM_000249.4(MLH1):c.1130dup (p.Val378fs)	MLH1	Pathogenic	3	37067217	37067218	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655828