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.2276-2A>C	PMS2	Likely pathogenic	7	6017390	6017390	T	G	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)	PMS2	Pathogenic/Likely pathogenic	7	6043403	6043404	T	TAG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.1513dup (p.Tyr505fs)	MSH6	Likely pathogenic	2	48026634	48026635	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)	MSH2	Likely pathogenic	2	47702236	47702236	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)	MLH1	Pathogenic/Likely pathogenic	3	37061945	37061945	C	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg)	MSH2	Likely pathogenic	2	47643538	47643539	CT	GC	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.2635-2A>G	MSH2	Likely pathogenic	2	47709916	47709916	A	G	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)	MSH6	Likely pathogenic	2	48026567	48026567	G	C	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)	MSH6	Likely pathogenic	2	48027356	48027356	T	A	reviewed by expert panel	-
single nucleotide variant	NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)	MLH1	Likely pathogenic	3	37035152	37035152	C	A	reviewed by expert panel	-