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_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_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer)	MSH6	Pathogenic	2	48033718	48033719	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTGAGAAGATG	criteria provided, single submitter	-
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
Duplication	NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)	MSH6	Pathogenic/Likely pathogenic	2	48033715	48033716	C	CAGAGGAAGTTATTCAAAAGGGACATAGAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369299
Duplication	NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)	MSH6	Pathogenic	2	48033710	48033711	T	TCTCCCAGAGGAAGTTATTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372557
Duplication	NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)	MSH6	Pathogenic/Likely pathogenic	2	48033710	48033711	T	TCTCCCAGAGGAAGTTATTCAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369298
Duplication	NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	MSH6	Pathogenic/Likely pathogenic	2	48033708	48033709	A	AATCT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.3920del (p.Asn1307fs)	MSH6	Pathogenic	2	48033708	48033708	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369297
Duplication	NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)	MSH6	Pathogenic	2	48033707	48033708	T	TAATCTCCC	reviewed by expert panel	ClinGen:CA330577