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_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2	Pathogenic	2	47637254	47637255	TCA	T	reviewed by expert panel	ClinGen:CA021115,OMIM:609309.0026
Deletion	NM_000251.3(MSH2):c.399del (p.Asp133fs)	MSH2	Pathogenic	2	47637265	47637265	AC	A	reviewed by expert panel	ClinGen:CA021127
Deletion	NM_000251.3(MSH2):c.408del (p.Phe136fs)	MSH2	Pathogenic	2	47637272	47637272	CT	C	reviewed by expert panel	ClinGen:CA021138
Deletion	NM_000251.3(MSH2):c.416del (p.Asn139fs)	MSH2	Pathogenic	2	47637281	47637281	CA	C	reviewed by expert panel	ClinGen:CA021145
single nucleotide variant	NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)	MSH2	Pathogenic	2	47637291	47637291	C	G	reviewed by expert panel	ClinGen:CA021151
single nucleotide variant	NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)	MSH2	Pathogenic	2	47637338	47637338	C	T	reviewed by expert panel	ClinGen:CA021185
single nucleotide variant	NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)	MSH2	Pathogenic	2	47637344	47637344	C	T	reviewed by expert panel	ClinGen:CA021192
single nucleotide variant	NM_000251.3(MSH2):c.482T>A (p.Val161Asp)	MSH2	Pathogenic	2	47637348	47637348	T	A	reviewed by expert panel	ClinGen:CA021196,UniProtKB:P43246#VAR_012936
single nucleotide variant	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2	Pathogenic	2	47637350	47637350	G	A	reviewed by expert panel	ClinGen:CA021199,UniProtKB:P43246#VAR_043747
single nucleotide variant	NM_000251.3(MSH2):c.488T>A (p.Val163Asp)	MSH2	Pathogenic	2	47637354	47637354	T	A	reviewed by expert panel	ClinGen:CA021206,UniProtKB:P43246#VAR_043748