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
Deletion	NM_000251.3(MSH2):c.795del (p.Ala266fs)	MSH2	Pathogenic	2	47641409	47641409	GT	G	reviewed by expert panel	ClinGen:CA022317
Deletion	NM_000251.3(MSH2):c.810_811del (p.Ser271fs)	MSH2	Pathogenic	2	47641424	47641425	CTG	C	reviewed by expert panel	ClinGen:CA022343
Deletion	NM_000251.3(MSH2):c.811_814del (p.Ser271fs)	MSH2	Pathogenic	2	47641423	47641426	ACTGT	A	reviewed by expert panel	ClinGen:CA022348
single nucleotide variant	NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)	MSH2	Pathogenic	2	47630412	47630412	G	T	reviewed by expert panel	ClinGen:CA022387
Deletion	NM_000251.3(MSH2):c.82del (p.Glu28fs)	MSH2	Pathogenic	2	47630411	47630411	CG	C	reviewed by expert panel	ClinGen:CA022381
Deletion	NM_000251.3(MSH2):c.836del (p.Leu279fs)	MSH2	Pathogenic	2	47641451	47641451	CT	C	reviewed by expert panel	ClinGen:CA022401
Duplication	NM_000251.3(MSH2):c.839dup (p.Leu280fs)	MSH2	Pathogenic	2	47641452	47641453	C	CT	reviewed by expert panel	ClinGen:CA022405
single nucleotide variant	NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)	MSH2	Pathogenic	2	47641457	47641457	C	A	reviewed by expert panel	ClinGen:CA022416
Deletion	NM_000251.3(MSH2):c.854del (p.Asn285fs)	MSH2	Pathogenic	2	47641468	47641468	CA	C	reviewed by expert panel	ClinGen:CA022433
single nucleotide variant	NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)	MSH2	Pathogenic	2	47641474	47641474	G	T	reviewed by expert panel	ClinGen:CA022437