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.2302_2304del (p.Pro768del)	MSH6	Pathogenic/Likely pathogenic	2	48027422	48027424	ACTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009988
single nucleotide variant	NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	MSH6	Pathogenic	2	48027436	48027436	C	T	reviewed by expert panel	ClinGen:CA010016,UniProtKB:P52701#VAR_043958
single nucleotide variant	NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)	MSH6	Pathogenic	2	48027452	48027452	G	A	reviewed by expert panel	ClinGen:CA010055
single nucleotide variant	NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)	MSH6	Likely pathogenic	2	48027463	48027463	C	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)	MSH6	Pathogenic	2	48027469	48027470	CTG	C	reviewed by expert panel	ClinGen:CA010095
Deletion	NM_000179.3(MSH6):c.2379_2380del (p.Ala794fs)	MSH6	Pathogenic	2	48027501	48027502	ATG	A	reviewed by expert panel	ClinGen:CA010147
single nucleotide variant	NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)	MSH6	Pathogenic	2	48027625	48027625	C	T	reviewed by expert panel	ClinGen:CA010314
Duplication	NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)	MSH6	Pathogenic	2	48027656	48027657	A	AT	reviewed by expert panel	ClinGen:CA330455
Deletion	NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)	MSH6	Pathogenic	2	48027688	48027691	TATTG	T	reviewed by expert panel	ClinGen:CA010436
Duplication	NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)	MSH6	Pathogenic	2	48027731	48027732	A	AAATT	reviewed by expert panel	ClinGen:CA010606