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	NC_000002.12:g.(?_47369500)_(47445663_?)del	EPCAM	Pathogenic	2	47596639	47672802	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47783228)_(47791129_?)del	MSH6	Pathogenic	2	48010367	48018268	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47801962)_(47806306_?)del	MSH6	Pathogenic	2	48029101	48033445	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47369500)_(47369587_?)del	EPCAM	Pathogenic	2	47596639	47596726	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47385160)_(47482955_?)del	EPCAM	Pathogenic	2	47612299	47710094	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_47475019)_(47480877_?)del	MSH2	Pathogenic	2	47702158	47708016	na	na	criteria provided, single submitter	-
Deletion	NM_000251.3(MSH2):c.115del (p.Arg39fs)	MSH2	Pathogenic	2	47630444	47630444	AC	A	criteria provided, single submitter	ClinGen:CA658655658
Deletion	NM_000251.3(MSH2):c.182del (p.Gln61fs)	MSH2	Pathogenic	2	47630512	47630512	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA532704953
Insertion	NM_000251.3(MSH2):c.193_194insTC (p.Lys65fs)	MSH2	Pathogenic	2	47630523	47630524	A	ATC	criteria provided, single submitter	ClinGen:CA658655670
Deletion	NM_000251.3(MSH2):c.207_211+42del	MSH2	Likely pathogenic	2	47630531	47630577	TGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655672