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
Insertion	NM_000251.3(MSH2):c.2237_2238insA (p.Ile747fs)	MSH2	Pathogenic	2	47705437	47705438	T	TA	reviewed by expert panel	ClinGen:CA020336
Deletion	NM_000251.3(MSH2):c.223_224del (p.Leu75fs)	MSH2	Pathogenic	2	47635550	47635551	ATC	A	reviewed by expert panel	ClinGen:CA020317
Deletion	NM_000251.3(MSH2):c.2240_2241del (p.Ile747fs)	MSH2	Pathogenic	2	47705439	47705440	CAT	C	reviewed by expert panel	ClinGen:CA020347
single nucleotide variant	NM_000251.3(MSH2):c.2242G>T (p.Asp748Tyr)	MSH2	Likely pathogenic	2	47705442	47705442	G	T	criteria provided, single submitter	UniProtKB:P43246#VAR_054520
single nucleotide variant	NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)	MSH2	Likely pathogenic	2	47705445	47705445	G	A	reviewed by expert panel	ClinGen:CA020357,UniProtKB:P43246#VAR_043785
single nucleotide variant	NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)	MSH2	Pathogenic	2	47705451	47705451	G	A	reviewed by expert panel	ClinGen:CA020361
Deletion	NM_000251.3(MSH2):c.2261del (p.Thr754fs)	MSH2	Pathogenic	2	47705461	47705461	AC	A	reviewed by expert panel	ClinGen:CA020369
single nucleotide variant	NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	MSH2	Pathogenic	2	47635554	47635554	C	T	reviewed by expert panel	ClinGen:CA020381
single nucleotide variant	NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)	MSH2	Pathogenic	2	47705475	47705475	G	T	reviewed by expert panel	ClinGen:CA020392
Deletion	NM_000251.3(MSH2):c.2290del (p.Trp764fs)	MSH2	Pathogenic	2	47705490	47705490	AT	A	reviewed by expert panel	ClinGen:CA020416