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.1933C>T (p.Gln645Ter)	MSH2	Pathogenic	2	47702337	47702337	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728706
Duplication	NM_000251.3(MSH2):c.1950dup (p.Ile651fs)	MSH2	Pathogenic	2	47702351	47702352	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369223
Deletion	NM_000251.3(MSH2):c.1968del (p.Phe657fs)	MSH2	Pathogenic	2	47702372	47702372	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369224
single nucleotide variant	NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)	MSH2	Pathogenic	2	47703541	47703541	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346729133
single nucleotide variant	NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)	MSH2	Likely pathogenic	2	47703565	47703565	G	C	criteria provided, single submitter	ClinGen:CA346729173
single nucleotide variant	NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)	MSH2	Pathogenic/Likely pathogenic	2	47703574	47703574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346729188
single nucleotide variant	NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser)	MSH2	Pathogenic	2	47703581	47703581	T	C	criteria provided, single submitter	ClinGen:CA346729201
Deletion	NM_000251.3(MSH2):c.2128del (p.Ala710fs)	MSH2	Pathogenic	2	47703628	47703628	AG	A	criteria provided, single submitter	ClinGen:CA645369227
Indel	NM_000251.3(MSH2):c.2210_2210+1delinsTA	MSH2	Likely pathogenic	2	47703710	47703711	GG	TA	criteria provided, single submitter	ClinGen:CA645369228
Duplication	NM_000251.3(MSH2):c.2269dup (p.Tyr757fs)	MSH2	Pathogenic	2	47705468	47705469	C	CT	criteria provided, single submitter	ClinGen:CA645369198