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.2945del (p.Pro982fs)	MSH6	Pathogenic	2	48028066	48028066	TC	T	reviewed by expert panel	ClinGen:CA011156
Deletion	NM_000179.3(MSH6):c.2976del (p.Glu993fs)	MSH6	Pathogenic	2	48028097	48028097	GA	G	reviewed by expert panel	ClinGen:CA011244
single nucleotide variant	NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	MSH6	Pathogenic	2	48028105	48028105	G	T	reviewed by expert panel	ClinGen:CA011274
Deletion	NM_000179.3(MSH6):c.2984del (p.Glu995fs)	MSH6	Pathogenic	2	48028106	48028106	GA	G	reviewed by expert panel	ClinGen:CA011285
single nucleotide variant	NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)	MSH6	Pathogenic	2	48028135	48028135	C	T	reviewed by expert panel	ClinGen:CA011340
single nucleotide variant	NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)	MSH6	Pathogenic	2	48028142	48028142	G	A	reviewed by expert panel	ClinGen:CA011367,LOVD 3:MSH6_000472,OMIM:600678.0012
single nucleotide variant	NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)	MSH6	Pathogenic	2	48028189	48028189	G	T	reviewed by expert panel	ClinGen:CA011483
single nucleotide variant	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6	Pathogenic	2	48028225	48028225	C	T	reviewed by expert panel	ClinGen:CA011558
Deletion	NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)	MSH6	Pathogenic	2	48028240	48028241	CTT	C	reviewed by expert panel	ClinGen:CA011602
single nucleotide variant	NM_000179.3(MSH6):c.3172+1G>T	MSH6	Likely pathogenic	2	48028295	48028295	G	T	reviewed by expert panel	ClinGen:CA011722