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_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Pathogenic	2	48033727	48033728	T	TTCAAAAGGGACATAGAAAA	reviewed by expert panel	ClinGen:CA014825
Duplication	NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)	MSH6	Pathogenic/Likely pathogenic	2	48033726	48033727	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA072328
Duplication	NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)	MSH6	Pathogenic	2	48033725	48033726	T	TATTC	reviewed by expert panel	ClinGen:CA014784
Duplication	NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)	MSH6	Pathogenic	2	48033723	48033724	G	GTTATTCAAAAGGGACATAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369300
Duplication	NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)	MSH6	Pathogenic	2	48033721	48033722	A	AAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617715
Duplication	NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)	MSH6	Pathogenic	2	48033720	48033721	G	GAAGT	reviewed by expert panel	ClinGen:CA014731
Duplication	NM_000179.3(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer)	MSH6	Pathogenic	2	48033718	48033719	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATG	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.3931del (p.Glu1311fs)	MSH6	Pathogenic	2	48033719	48033719	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)	MSH6	Pathogenic	2	48033718	48033719	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582093
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