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.1120C>T (p.Gln374Ter)	PMS2	Pathogenic/Likely pathogenic	7	6029455	6029455	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366742765
Deletion	NM_000535.7(PMS2):c.712del (p.Ser238fs)	PMS2	Pathogenic	7	6037048	6037048	CT	C	criteria provided, single submitter	ClinGen:CA658683475
single nucleotide variant	NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)	PMS2	Pathogenic	7	6043647	6043647	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366744852
Deletion	NM_000251.3(MSH2):c.839del (p.Leu280fs)	MSH2	Pathogenic	2	47641453	47641453	CT	C	criteria provided, single submitter	ClinGen:CA658683221
single nucleotide variant	NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)	MSH6	Pathogenic	2	48026257	48026257	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346742114
Deletion	NM_000249.4(MLH1):c.1032del (p.Phe344fs)	MLH1	Pathogenic/Likely pathogenic	3	37061948	37061948	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683308
single nucleotide variant	NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)	MLH1	Likely pathogenic	3	37090029	37090029	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352065629
Deletion	NM_000251.3(MSH2):c.845_848del (p.Asp282fs)	MSH2	Pathogenic/Likely pathogenic	2	47641460	47641463	GATGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683222
single nucleotide variant	NM_000179.3(MSH6):c.3646+1G>T	MSH6	Likely pathogenic	2	48032847	48032847	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346760640
single nucleotide variant	NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)	MSH2	Likely pathogenic	2	47707842	47707842	T	A	criteria provided, single submitter	ClinGen:CA46707579