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_000251.3(MSH2):c.2425G>T (p.Glu809Ter)	MSH2	Pathogenic/Likely pathogenic	2	47705625	47705625	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346730246
Deletion	NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)	MSH2	Pathogenic	2	47707847	47707848	CAA	C	criteria provided, single submitter	ClinGen:CA645372542
single nucleotide variant	NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)	MSH2	Pathogenic/Likely pathogenic	2	47709939	47709939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346731415
Duplication	NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)	MSH6	Pathogenic	2	48026692	48026693	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372551
Duplication	NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)	MSH6	Pathogenic	2	48027926	48027927	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372553
single nucleotide variant	NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)	MSH6	Likely pathogenic	2	48028027	48028027	T	C	criteria provided, single submitter	ClinGen:CA346756128
Deletion	NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)	MSH6	Pathogenic	2	48030605	48030606	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372554
Duplication	NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)	MSH6	Pathogenic/Likely pathogenic	2	48033638	48033639	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372555
Duplication	NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)	MSH6	Likely pathogenic	2	48033705	48033706	G	GCTAATCTCCCAGAGGAAGTTAT	criteria provided, single submitter	ClinGen:CA645372556
Duplication	NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)	MSH6	Pathogenic	2	48033710	48033711	T	TCTCCCAGAGGAAGTTATTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372557