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_000249.4(MLH1):c.1A>C (p.Met1Leu)	MLH1	Likely pathogenic	3	37035039	37035039	A	C	criteria provided, single submitter	ClinGen:CA352059779
Deletion	NM_000179.3(MSH6):c.3574del (p.Val1192fs)	MSH6	Pathogenic/Likely pathogenic	2	48032774	48032774	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683254
Deletion	NM_000179.3(MSH6):c.3798_3801+9del	MSH6	Pathogenic/Likely pathogenic	2	48033492	48033504	ACATATGGTATGTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683257
Duplication	NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)	MSH6	Pathogenic	2	48033748	48033749	C	CAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683260
Duplication	NM_000249.4(MLH1):c.469dup (p.Tyr157fs)	MLH1	Pathogenic/Likely pathogenic	3	37050314	37050315	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683324
Indel	NM_000249.4(MLH1):c.497_498delinsC (p.Leu166fs)	MLH1	Pathogenic	3	37050348	37050349	TA	C	criteria provided, single submitter	ClinGen:CA658683325
single nucleotide variant	NM_000249.4(MLH1):c.884+1G>A	MLH1	Pathogenic/Likely pathogenic	3	37059091	37059091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352046636
single nucleotide variant	NM_000535.7(PMS2):c.903+1G>T	PMS2	Likely pathogenic	7	6035164	6035164	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366743394
Deletion	NM_000535.7(PMS2):c.1332del (p.Ser445fs)	PMS2	Pathogenic	7	6027064	6027064	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683471
single nucleotide variant	NM_000535.7(PMS2):c.73C>T (p.Gln25Ter)	PMS2	Pathogenic	7	6045613	6045613	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366745114