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_000179.3(MSH6):c.3725G>A (p.Arg1242His)	MSH6	Pathogenic/Likely pathogenic	2	48033421	48033421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014077
single nucleotide variant	NM_000535.7(PMS2):c.904-2A>G	PMS2	Pathogenic/Likely pathogenic	7	6031690	6031690	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013226
single nucleotide variant	NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)	MSH6	Pathogenic	2	48028054	48028054	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011127
Deletion	NM_000535.7(PMS2):c.1067del (p.Lys356fs)	PMS2	Pathogenic	7	6029508	6029508	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009154
Deletion	NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)	MSH6	Pathogenic/Likely pathogenic	2	48026753	48026754	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008960
single nucleotide variant	NM_000179.3(MSH6):c.1407T>A (p.Tyr469Ter)	MSH6	Pathogenic	2	48026529	48026529	T	A	criteria provided, single submitter	ClinGen:CA008590
single nucleotide variant	NM_000249.4(MLH1):c.790+1G>T	MLH1	Pathogenic	3	37056036	37056036	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012126
single nucleotide variant	NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)	MSH6	Pathogenic	2	48027422	48027422	C	T	reviewed by expert panel	ClinGen:CA009983
single nucleotide variant	NM_000249.4(MLH1):c.207+5G>C	MLH1	Pathogenic/Likely pathogenic	3	37038205	37038205	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008462
Deletion	NM_000251.3(MSH2):c.1697del (p.Asn566fs)	MSH2	Pathogenic	2	47698135	47698135	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA019041