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.1030C>T (p.Gln344Ter)	MSH6	Pathogenic	2	48026152	48026152	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346741390
Indel	NM_000179.3(MSH6):c.1438_1443delinsCG (p.Val480fs)	MSH6	Pathogenic	2	48026560	48026565	GTAGCA	CG	criteria provided, single submitter	ClinGen:CA658655756
Duplication	NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)	MSH6	Pathogenic	2	48028280	48028281	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655681
Deletion	NM_000179.3(MSH6):c.3377_3378del (p.Lys1126fs)	MSH6	Pathogenic	2	48030762	48030763	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655697
Duplication	NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)	MSH6	Pathogenic	2	48030637	48030638	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655688
single nucleotide variant	NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)	MSH6	Pathogenic	2	48028053	48028053	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756202
single nucleotide variant	NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)	MSH6	Pathogenic/Likely pathogenic	2	48032073	48032073	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346760051
Duplication	NM_000179.3(MSH6):c.3699_3705dup (p.Ala1236fs)	MSH6	Pathogenic	2	48033394	48033395	A	AAGAACTT	criteria provided, single submitter	ClinGen:CA658655735
Duplication	NM_000179.3(MSH6):c.2290dup (p.Thr764fs)	MSH6	Pathogenic	2	48027411	48027412	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655810
Deletion	NM_000179.3(MSH6):c.3562del (p.Ser1188fs)	MSH6	Pathogenic	2	48032760	48032760	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655723