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
single nucleotide variant	NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)	MSH6	Pathogenic/Likely pathogenic	2	48026426	48026426	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008468,UniProtKB:P52701#VAR_068710
single nucleotide variant	NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)	MSH6	Pathogenic	2	48026468	48026468	T	C	reviewed by expert panel	ClinGen:CA008516,UniProtKB:P52701#VAR_043949
Duplication	NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)	MSH6	Pathogenic	2	48026541	48026542	G	GGT	reviewed by expert panel	ClinGen:CA008601
single nucleotide variant	NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	MSH6	Pathogenic	2	48026566	48026566	C	T	reviewed by expert panel	ClinGen:CA008614
single nucleotide variant	NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)	MSH6	Pathogenic	2	48026599	48026599	G	T	reviewed by expert panel	ClinGen:CA008679
single nucleotide variant	NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)	MSH6	Pathogenic	2	48026605	48026605	C	T	reviewed by expert panel	ClinGen:CA008701
single nucleotide variant	NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)	MSH6	Pathogenic	2	48026694	48026694	C	G	reviewed by expert panel	ClinGen:CA008805
Deletion	NM_000179.3(MSH6):c.1580del (p.Leu527fs)	MSH6	Pathogenic	2	48026702	48026702	CT	C	reviewed by expert panel	ClinGen:CA008812
Deletion	NM_000179.3(MSH6):c.1590del (p.Ser532fs)	MSH6	Pathogenic	2	48026712	48026712	AT	A	reviewed by expert panel	ClinGen:CA008834
Duplication	NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)	MSH6	Pathogenic	2	48026717	48026718	C	CT	reviewed by expert panel	ClinGen:CA330372,OMIM:600678.0016