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
Deletion	NM_000249.4(MLH1):c.898_908del (p.Pro300fs)	MLH1	Pathogenic	3	37061812	37061822	AGTCCCCAGAAT	A	criteria provided, single submitter	ClinGen:CA645372721
Deletion	NM_000249.4(MLH1):c.949del (p.Leu317fs)	MLH1	Pathogenic	3	37061864	37061864	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372725
Duplication	NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)	MLH1	Pathogenic	3	37061878	37061879	G	GCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372726
Indel	NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)	MLH1	Pathogenic	3	37067414	37067435	CCAAAAATCAGAGCTTGGAGGG	ATTTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372724
Duplication	NM_000249.4(MLH1):c.1358dup (p.Thr455fs)	MLH1	Pathogenic	3	37067444	37067445	C	CA	criteria provided, single submitter	ClinGen:CA645372720
Duplication	NM_000249.4(MLH1):c.1558+1dup	MLH1	Pathogenic	3	37070421	37070422	A	AG	criteria provided, single submitter	ClinGen:CA645372727
single nucleotide variant	NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)	MLH1	Pathogenic/Likely pathogenic	3	37081782	37081782	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352060764
single nucleotide variant	NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)	MLH1	Pathogenic	3	37089047	37089047	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352064478
Deletion	NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)	MLH1	Likely pathogenic	3	37090452	37090454	GTTC	G	criteria provided, single submitter	ClinGen:CA645372735
Duplication	NM_000535.7(PMS2):c.2458dup (p.Thr820fs)	PMS2	Pathogenic	7	6013160	6013161	G	GT	criteria provided, single submitter	ClinGen:CA645372835