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_000535.7(PMS2):c.730C>T (p.Gln244Ter)	PMS2	Pathogenic	7	6037030	6037030	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.1989del (p.Met663fs)	MSH2	Pathogenic/Likely pathogenic	2	47702393	47702393	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)	TGFBR2	Likely pathogenic	3	30713432	30713432	G	A	criteria provided, single submitter	-
Deletion	NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)	TGFBR2	Likely pathogenic	3	30729925	30729926	CCT	C	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.680_681del (p.Arg227fs)	MSH2	Pathogenic	2	47639586	47639587	AAG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000251.3(MSH2):c.882del (p.Phe294fs)	MSH2	Pathogenic	2	47641494	47641494	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs)	MSH2	Pathogenic	2	47643562	47643563	A	AGG	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.1648A>T (p.Lys550Ter)	MSH2	Pathogenic	2	47693934	47693934	A	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.114del (p.Ala40fs)	MSH6	Pathogenic	2	48010482	48010482	GC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.776dup (p.Gly260fs)	MSH6	Pathogenic	2	48025896	48025897	T	TG	criteria provided, multiple submitters, no conflicts	-