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
Duplication	NM_000179.3(MSH6):c.3573dup (p.Val1192fs)	MSH6	Pathogenic	2	48032767	48032768	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042399
Deletion	NM_000251.3(MSH2):c.1158_1167del (p.Asn388fs)	MSH2	Pathogenic	2	47656960	47656969	AGATCTTAACC	A	criteria provided, single submitter	ClinGen:CA16042417
Duplication	NM_000179.3(MSH6):c.3267dup (p.Glu1090fs)	MSH6	Pathogenic	2	48030652	48030653	T	TA	criteria provided, single submitter	ClinGen:CA16042418
single nucleotide variant	NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)	MSH6	Pathogenic	2	48032059	48032059	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042488
Deletion	NM_000535.7(PMS2):c.1743del (p.Glu582fs)	PMS2	Pathogenic	7	6026653	6026653	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042584
Deletion	NM_000535.7(PMS2):c.445del (p.Tyr149fs)	PMS2	Pathogenic/Likely pathogenic	7	6042176	6042176	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA049809
single nucleotide variant	NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)	MSH6	Pathogenic	2	48025978	48025978	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604278
single nucleotide variant	NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His)	TGFBR2	Likely pathogenic	3	30732997	30732997	G	A	criteria provided, single submitter	ClinGen:CA16604407
single nucleotide variant	NM_000249.4(MLH1):c.545+1G>T	MLH1	Pathogenic/Likely pathogenic	3	37050397	37050397	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604530
single nucleotide variant	NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)	MSH2	Pathogenic	2	47703527	47703527	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604545