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_000251.1(MSH2):c.(?_-68)_1386+?del	MSH2	Pathogenic	2	47630263	47672796	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_1661+?del	MSH2	Pathogenic	2	47630263	47693947	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_1759+?del	MSH2	Pathogenic	2	47630263	47698201	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_211+?del	MSH2	Pathogenic	2	47630263	47630541	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_2634+?del	MSH2	Pathogenic	2	47630263	47708010	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_366+?del	MSH2	Pathogenic	2	47630263	47635694	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_645+?del	MSH2	Pathogenic	2	47630263	47637511	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_792+?del	MSH2	Pathogenic	2	47630263	47639699	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.(?_-68)_942+?del	MSH2	Pathogenic	2	47630263	47641557	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.-1753_645+922del	MSH2	Pathogenic	2	47628578	47638433	na	na	reviewed by expert panel	ClinGen:CA331194