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.628-2A>G	MSH6	Pathogenic/Likely pathogenic	2	48025748	48025748	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346739195
Deletion	NM_000179.3(MSH6):c.809del (p.Lys270fs)	MSH6	Pathogenic	2	48025930	48025930	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369244
Indel	NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)	MSH6	Pathogenic	2	48026000	48026005	CTGTCA	TTCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369247
single nucleotide variant	NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)	MSH6	Pathogenic	2	48026074	48026074	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346740848
single nucleotide variant	NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)	MSH6	Pathogenic	2	48026134	48026134	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346741265
single nucleotide variant	NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)	MSH6	Pathogenic	2	48026237	48026237	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346741989
Deletion	NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)	MSH6	Pathogenic/Likely pathogenic	2	48026248	48026252	GGAAAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369233
Deletion	NM_000179.3(MSH6):c.1168del (p.Asp390fs)	MSH6	Pathogenic/Likely pathogenic	2	48026290	48026290	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1649446
Indel	NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs)	MSH6	Pathogenic	2	48026298	48026300	TGC	GGAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369234
Duplication	NM_000179.3(MSH6):c.1190_1191dup (p.Val398fs)	MSH6	Pathogenic	2	48026310	48026311	C	CTA	criteria provided, single submitter	ClinGen:CA645369239