リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3804dup (p.Cys1269fs)	MSH6	Pathogenic	2	48033592	48033593	C	CA	reviewed by expert panel	ClinGen:CA014416
single nucleotide variant	NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)	MSH6	Pathogenic	2	48033627	48033627	C	T	reviewed by expert panel	ClinGen:CA014495
Deletion	NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)	MSH6	Pathogenic	2	48033629	48033635	AGGAGACT	A	reviewed by expert panel	ClinGen:CA014521
Duplication	NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)	MSH6	Pathogenic	2	48033635	48033636	T	TATTA	reviewed by expert panel	ClinGen:CA014566
Deletion	NM_000179.3(MSH6):c.3887_3893del (p.Lys1296fs)	MSH6	Pathogenic	2	48033673	48033679	CCTAAAAG	C	reviewed by expert panel	ClinGen:CA014616
Duplication	NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)	MSH6	Pathogenic	2	48033706	48033707	C	CT	reviewed by expert panel	ClinGen:CA330576
Duplication	NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)	MSH6	Pathogenic	2	48033707	48033708	T	TAATCTCCC	reviewed by expert panel	ClinGen:CA330577
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.3938_3941dup (p.Gln1314fs)	MSH6	Pathogenic	2	48033725	48033726	T	TATTC	reviewed by expert panel	ClinGen:CA014784
Duplication	NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)	MSH6	Pathogenic	2	48033727	48033728	T	TTCAAAAGGGACATAGAAAA	reviewed by expert panel	ClinGen:CA014825