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
Duplication	NM_000251.3(MSH2):c.1007dup (p.Gln337fs)	MSH2	Pathogenic	2	47643495	47643496	A	AC	criteria provided, single submitter	ClinGen:CA658655650
Deletion	NM_000251.3(MSH2):c.1401del (p.Glu467fs)	MSH2	Pathogenic/Likely pathogenic	2	47690183	47690183	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655695
Duplication	NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)	MSH6	Pathogenic	2	48033390	48033391	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655734
Deletion	NM_000179.3(MSH6):c.1223del (p.Pro408fs)	MSH6	Pathogenic	2	48026344	48026344	TC	T	criteria provided, single submitter	ClinGen:CA658655738
Deletion	NM_000179.3(MSH6):c.3801+1_3801+5del	MSH6	Pathogenic/Likely pathogenic	2	48033494	48033498	ATATGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655740
Duplication	NM_000179.3(MSH6):c.3809_3812dup (p.Glu1272fs)	MSH6	Pathogenic	2	48033597	48033598	A	ATGGT	criteria provided, single submitter	ClinGen:CA658655743
Insertion	NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)	MSH6	Pathogenic	2	48033715	48033716	C	CGAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655765
Duplication	NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)	MSH6	Pathogenic	2	48033742	48033743	G	GAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655771
Duplication	NM_000251.3(MSH2):c.2085dup (p.Pro696fs)	MSH2	Pathogenic	2	47703584	47703585	T	TG	criteria provided, single submitter	ClinGen:CA658655731
Deletion	NM_000251.3(MSH2):c.2116del (p.Asp706fs)	MSH2	Pathogenic	2	47703615	47703615	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655733