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_000535.7(PMS2):c.2445+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582495
single nucleotide variant	NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)	PMS2	Pathogenic	7	6026805	6026805	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582507
Duplication	NM_000535.7(PMS2):c.1500dup (p.Val501fs)	PMS2	Pathogenic	7	6026895	6026896	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582509
single nucleotide variant	NM_000535.7(PMS2):c.903+2T>C	PMS2	Likely pathogenic	7	6035163	6035163	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582518
single nucleotide variant	NM_000535.7(PMS2):c.903G>A (p.Lys301=)	PMS2	Pathogenic/Likely pathogenic	7	6035165	6035165	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA052331
single nucleotide variant	NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)	MSH2	Pathogenic	2	47635622	47635622	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584204
Deletion	NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)	MSH2	Pathogenic	2	47635676	47635682	ATTGGTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584206
single nucleotide variant	NM_000251.3(MSH2):c.366+1G>A	MSH2	Pathogenic/Likely pathogenic	2	47635695	47635695	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584207
single nucleotide variant	NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)	MSH2	Pathogenic	2	47641512	47641512	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584211
Deletion	NM_000251.3(MSH2):c.1008del (p.Gln337fs)	MSH2	Pathogenic	2	47643500	47643500	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584212