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.3416dup (p.Lys1140fs)	MSH6	Pathogenic/Likely pathogenic	2	48030796	48030797	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA186291
Duplication	NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)	MSH6	Pathogenic	2	48032760	48032761	A	AAAGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA196265
Insertion	NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)	MSH6	Pathogenic	2	48033439	48033440	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA014152
Duplication	NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	MSH6	Pathogenic/Likely pathogenic	2	48033767	48033768	G	GAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA014990
single nucleotide variant	NM_000249.4(MLH1):c.27G>A (p.Arg9=)	MLH1	Likely pathogenic	3	37035065	37035065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009499
single nucleotide variant	NM_000249.4(MLH1):c.208-2A>C	MLH1	Pathogenic	3	37042444	37042444	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008510
single nucleotide variant	NM_000249.4(MLH1):c.790+4A>C	MLH1	Likely pathogenic	3	37056039	37056039	A	C	criteria provided, single submitter	ClinGen:CA012181
Deletion	NM_000249.4(MLH1):c.1257_1273del (p.Ile419fs)	MLH1	Pathogenic	3	37067346	37067362	TTTCTAGTGGCAGGGCTA	T	criteria provided, single submitter	ClinGen:CA004850
Deletion	NM_000249.4(MLH1):c.1858del (p.Glu620fs)	MLH1	Pathogenic	3	37089136	37089136	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007230
Duplication	NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)	MLH1	Pathogenic	3	37089166	37089167	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA191269