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.1693A>T (p.Lys565Ter)	MSH2	Pathogenic	2	47698135	47698135	A	T	reviewed by expert panel	ClinGen:CA019034
Deletion	NM_000251.3(MSH2):c.1696_1697del (p.Lys565_Asn566insTer)	MSH2	Pathogenic	2	47698135	47698136	CAA	C	reviewed by expert panel	ClinGen:CA019038
single nucleotide variant	NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)	MSH2	Pathogenic	2	47698141	47698141	A	T	reviewed by expert panel	ClinGen:CA019047
Deletion	NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)	MSH2	Pathogenic	2	47698141	47698145	TAAAAC	T	reviewed by expert panel	ClinGen:CA019059
Duplication	NM_000251.3(MSH2):c.1702dup (p.Thr568fs)	MSH2	Pathogenic	2	47698140	47698141	T	TA	reviewed by expert panel	ClinGen:CA331362
Duplication	NM_000251.3(MSH2):c.1705_1706dup (p.Tyr570fs)	MSH2	Pathogenic	2	47698145	47698146	C	CAG	reviewed by expert panel	ClinGen:CA019079
Insertion	NM_000251.3(MSH2):c.1705_1706insT (p.Glu569fs)	MSH2	Pathogenic	2	47698147	47698148	G	GT	reviewed by expert panel	ClinGen:CA019074
Deletion	NM_000251.3(MSH2):c.1717del (p.Ala573fs)	MSH2	Pathogenic	2	47698159	47698159	AG	A	reviewed by expert panel	ClinGen:CA019097
single nucleotide variant	NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)	MSH2	Pathogenic	2	47698162	47698162	C	T	reviewed by expert panel	ClinGen:CA019108
Deletion	NM_000251.3(MSH2):c.1720del (p.Gln574fs)	MSH2	Pathogenic	2	47698160	47698160	GC	G	reviewed by expert panel	ClinGen:CA019113