リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.181C>T (p.Gln61Ter)	MSH2	Pathogenic	2	47630511	47630511	C	T	reviewed by expert panel	ClinGen:CA019387
Deletion	NM_000251.3(MSH2):c.1827del (p.His610fs)	MSH2	Pathogenic	2	47702231	47702231	CT	C	reviewed by expert panel	ClinGen:CA019397
single nucleotide variant	NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)	MSH2	Pathogenic	2	47702239	47702239	C	G	reviewed by expert panel	ClinGen:CA019418
Deletion	NM_000251.3(MSH2):c.1853del (p.Pro618fs)	MSH2	Pathogenic	2	47702256	47702256	TC	T	reviewed by expert panel	ClinGen:CA019438
single nucleotide variant	NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)	MSH2	Pathogenic	2	47702261	47702261	T	G	reviewed by expert panel	ClinGen:CA019449
Duplication	NM_000251.3(MSH2):c.1858_1859dup (p.Arg621fs)	MSH2	Pathogenic	2	47702260	47702261	A	ATG	reviewed by expert panel	ClinGen:CA019454
single nucleotide variant	NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	MSH2	Pathogenic	2	47702265	47702265	C	T	reviewed by expert panel	ClinGen:CA019461
single nucleotide variant	NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)	MSH2	Pathogenic/Likely pathogenic	2	47702268	47702268	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019468
Duplication	NM_000251.3(MSH2):c.186_187dup (p.Val63fs)	MSH2	Pathogenic	2	47630512	47630513	A	AGG	reviewed by expert panel	ClinGen:CA019489
Deletion	NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)	MSH2	Pathogenic	2	47630513	47630513	AG	A	reviewed by expert panel	ClinGen:CA019497