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.2122G>T (p.Glu708Ter)	MSH6	Pathogenic	2	48027244	48027244	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617667
Duplication	NM_000179.3(MSH6):c.2665dup (p.Gln889fs)	MSH6	Pathogenic	2	48027786	48027787	G	GC	criteria provided, single submitter	ClinGen:CA16617679
Duplication	NM_000179.3(MSH6):c.2690dup (p.Asn897fs)	MSH6	Pathogenic	2	48027806	48027807	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617681
single nucleotide variant	NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)	MSH6	Pathogenic	2	48027984	48027984	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617684
single nucleotide variant	NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)	MSH6	Pathogenic	2	48028111	48028111	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617688
single nucleotide variant	NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)	MSH6	Pathogenic	2	48028205	48028205	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617691
single nucleotide variant	NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter)	MSH6	Pathogenic	2	48028262	48028262	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617692
Deletion	NM_000179.3(MSH6):c.3556+1del	MSH6	Pathogenic/Likely pathogenic	2	48032166	48032166	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617702
Deletion	NM_000179.2(MSH6):c.3647delG	MSH6	Pathogenic/Likely pathogenic	2	48033342	48033342	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617705
Duplication	NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)	MSH6	Pathogenic/Likely pathogenic	2	48033425	48033426	A	ATTAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617708