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.457+2T>A	MSH6	Pathogenic	2	48018264	48018264	T	A	reviewed by expert panel	ClinGen:CA015582
single nucleotide variant	NM_000179.3(MSH6):c.458-1G>A	MSH6	Likely pathogenic	2	48023032	48023032	G	A	reviewed by expert panel	ClinGen:CA015627
single nucleotide variant	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6	Pathogenic	2	48023042	48023042	C	G	reviewed by expert panel	ClinGen:CA015662
single nucleotide variant	NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)	MSH6	Pathogenic	2	48023174	48023174	C	A	reviewed by expert panel	ClinGen:CA015935
single nucleotide variant	NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)	MSH6	Pathogenic	2	48025764	48025764	C	A	reviewed by expert panel	ClinGen:CA016077
single nucleotide variant	NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	MSH6	Pathogenic	2	48025764	48025764	C	G	reviewed by expert panel	ClinGen:CA016086
single nucleotide variant	NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)	MSH6	Pathogenic	2	48025774	48025774	A	T	reviewed by expert panel	ClinGen:CA016159
single nucleotide variant	NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)	MSH6	Pathogenic	2	48025816	48025816	C	T	reviewed by expert panel	ClinGen:CA016261
single nucleotide variant	NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)	MSH6	Pathogenic	2	48025828	48025828	C	T	reviewed by expert panel	ClinGen:CA016297
Deletion	NM_000179.3(MSH6):c.710del (p.Gly237fs)	MSH6	Pathogenic	2	48025831	48025831	AG	A	reviewed by expert panel	ClinGen:CA016310