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_000535.7(PMS2):c.1576del (p.Asp526fs)	PMS2	Pathogenic	7	6026820	6026820	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338981
single nucleotide variant	NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)	PMS2	Pathogenic	7	6027099	6027099	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA337884
Duplication	NM_000535.7(PMS2):c.1239dup (p.Asp414fs)	PMS2	Pathogenic	7	6027156	6027157	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA339080
single nucleotide variant	NM_000535.7(PMS2):c.537+1G>A	PMS2	Likely pathogenic	7	6042083	6042083	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339064
single nucleotide variant	NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	TGFBR2	Pathogenic/Likely pathogenic	3	30729887	30729887	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321611
single nucleotide variant	NM_000251.3(MSH2):c.793-1G>A	MSH2	Pathogenic/Likely pathogenic	2	47641407	47641407	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279694
Deletion	NM_000251.3(MSH2):c.1090del (p.Glu364fs)	MSH2	Pathogenic	2	47656893	47656893	TG	T	criteria provided, single submitter	ClinGen:CA279770
single nucleotide variant	NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)	MSH2	Pathogenic	2	47656981	47656981	A	T	criteria provided, single submitter	ClinGen:CA279759
single nucleotide variant	NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)	MSH2	Pathogenic	2	47657041	47657041	C	T	criteria provided, single submitter	ClinGen:CA279693
Indel	NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)	MSH2	Pathogenic/Likely pathogenic	2	47657055	47657072	TATACAGGCTCTGGAAAA	AGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279750