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.3690del (p.Val1231fs)	MSH6	Pathogenic	2	48033386	48033386	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013835
Duplication	NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)	MSH6	Pathogenic/Likely pathogenic	2	48033727	48033728	T	TTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014773
Deletion	NM_000249.4(MLH1):c.155_156del (p.Lys52fs)	MLH1	Pathogenic	3	37038147	37038148	TAA	T	criteria provided, single submitter	ClinGen:CA005731
Deletion	NM_001354629.2(MLH1):c.208-3445_208-3439del	MLH1	Pathogenic	3	37042444	37042450	CAGAAAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008551
single nucleotide variant	NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)	MLH1	Pathogenic/Likely pathogenic	3	37045965	37045965	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010075
single nucleotide variant	NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)	MLH1	Pathogenic	3	37090470	37090470	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008366
Duplication	NM_000249.4(MLH1):c.2110dup (p.Val704fs)	MLH1	Pathogenic	3	37091982	37091983	A	AG	criteria provided, single submitter	ClinGen:CA645509136
Deletion	NM_000251.3(MSH2):c.251del (p.Asn84fs)	MSH2	Pathogenic	2	47635578	47635578	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020669
single nucleotide variant	NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)	MSH2	Pathogenic	2	47641445	47641445	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA022392
Duplication	NM_000251.3(MSH2):c.913dup (p.Ala305fs)	MSH2	Pathogenic	2	47641527	47641528	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA197206