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
Duplication	NM_000251.3(MSH2):c.565_566dup (p.Leu191fs)	MSH2	Pathogenic	2	47637430	47637431	G	GGC	criteria provided, single submitter	ClinGen:CA645369188
single nucleotide variant	NM_000251.3(MSH2):c.569T>C (p.Leu190Pro)	MSH2	Likely pathogenic	2	47637435	47637435	T	C	criteria provided, single submitter	ClinGen:CA346730946
single nucleotide variant	NM_000251.3(MSH2):c.602T>A (p.Leu201Ter)	MSH2	Pathogenic	2	47637468	47637468	T	A	criteria provided, single submitter	ClinGen:CA346731059
Deletion	NM_000251.3(MSH2):c.633del (p.Lys212fs)	MSH2	Pathogenic	2	47637496	47637496	TG	T	criteria provided, single submitter	ClinGen:CA645369183
Deletion	NM_000251.3(MSH2):c.646-4_655del	MSH2	Pathogenic	2	47639543	47639556	TTTCAAAATAGATAA	T	criteria provided, single submitter	ClinGen:CA645369189
single nucleotide variant	NM_000251.3(MSH2):c.646-1G>C	MSH2	Pathogenic	2	47639552	47639552	G	C	criteria provided, single submitter	ClinGen:CA346731609
Insertion	NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)	MSH2	Pathogenic	2	47639594	47639595	A	AT	criteria provided, single submitter	ClinGen:CA645369190
Deletion	NM_000251.3(MSH2):c.710_716del (p.Ile237fs)	MSH2	Pathogenic	2	47639615	47639621	ACATTTAT	A	criteria provided, single submitter	ClinGen:CA645369191
Duplication	NM_000251.3(MSH2):c.790dup (p.Gln264fs)	MSH2	Pathogenic	2	47639696	47639697	T	TC	criteria provided, single submitter	ClinGen:CA645369194
Duplication	NM_000251.3(MSH2):c.850dup (p.Ser284fs)	MSH2	Pathogenic	2	47641463	47641464	A	AT	criteria provided, single submitter	ClinGen:CA645369200