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_000251.3(MSH2):c.488T>G (p.Val163Gly)	MSH2	Pathogenic	2	47637354	47637354	T	G	reviewed by expert panel	ClinGen:CA021209,UniProtKB:P43246#VAR_022670
single nucleotide variant	NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)	MSH2	Pathogenic	2	47637356	47637356	G	A	reviewed by expert panel	ClinGen:CA021212,UniProtKB:P43246#VAR_043749
single nucleotide variant	NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)	MSH2	Pathogenic/Likely pathogenic	2	47637356	47637356	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA021215
single nucleotide variant	NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)	MSH2	Likely pathogenic	2	47637359	47637359	T	G	reviewed by expert panel	ClinGen:CA021222,UniProtKB:P43246#VAR_067284
Deletion	NM_000251.3(MSH2):c.506_509del (p.Ile169fs)	MSH2	Pathogenic	2	47637370	47637373	CCATA	C	reviewed by expert panel	ClinGen:CA021243
single nucleotide variant	NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)	MSH2	Pathogenic	2	47637374	47637374	C	T	reviewed by expert panel	ClinGen:CA021248
Duplication	NM_000251.3(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer)	MSH2	Pathogenic	2	47637375	47637376	A	AGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATT	reviewed by expert panel	ClinGen:CA331612
Deletion	NM_000251.3(MSH2):c.513del (p.Lys172fs)	MSH2	Pathogenic	2	47637378	47637378	AG	A	reviewed by expert panel	ClinGen:CA021260
single nucleotide variant	NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)	MSH2	Likely pathogenic	2	47637384	47637384	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA021269,UniProtKB:P43246#VAR_043751
single nucleotide variant	NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)	MSH2	Pathogenic	2	47637384	47637384	T	G	reviewed by expert panel	ClinGen:CA021275