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.1989+2T>C	MLH1	Likely pathogenic	3	37090102	37090102	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352066025
Deletion	NM_000249.4(MLH1):c.1591del (p.Val531fs)	MLH1	Pathogenic	3	37081709	37081709	CG	C	criteria provided, single submitter	ClinGen:CA658655774
Duplication	NM_000249.4(MLH1):c.2236dup (p.Leu746fs)	MLH1	Pathogenic	3	37092107	37092108	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655811
Deletion	NM_000249.4(MLH1):c.1680del (p.Tyr561fs)	MLH1	Pathogenic	3	37083771	37083771	TC	T	criteria provided, single submitter	ClinGen:CA658655782
single nucleotide variant	NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)	MLH1	Pathogenic	3	37089069	37089069	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352064694
Deletion	NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)	MLH1	Pathogenic	3	37090033	37090033	CT	C	criteria provided, single submitter	ClinGen:CA658655796
single nucleotide variant	NM_000249.4(MLH1):c.305A>C (p.Glu102Ala)	MLH1	Likely pathogenic	3	37042543	37042543	A	C	criteria provided, single submitter	ClinGen:CA352036687
Duplication	NM_000249.4(MLH1):c.2080dup (p.Glu694fs)	MLH1	Pathogenic	3	37090483	37090484	A	AG	criteria provided, single submitter	ClinGen:CA658655800
single nucleotide variant	NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)	MLH1	Pathogenic	3	37090503	37090503	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352068432
Deletion	NM_000249.4(MLH1):c.911del (p.Asp304fs)	MLH1	Pathogenic	3	37061827	37061827	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655814