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
Deletion	NM_000251.3(MSH2):c.136_164del (p.His46fs)	MSH2	Pathogenic	2	47630464	47630492	GCGCACGGCGAGGACGCGCTGCTGGCCGCC	G	reviewed by expert panel	ClinGen:CA018096
single nucleotide variant	NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)	MSH2	Pathogenic	2	47672783	47672783	T	G	reviewed by expert panel	ClinGen:CA018102
single nucleotide variant	NM_000251.3(MSH2):c.1386+1G>A	MSH2	Likely pathogenic	2	47672797	47672797	G	A	reviewed by expert panel	ClinGen:CA018130
single nucleotide variant	NM_000251.3(MSH2):c.1386+1G>C	MSH2	Likely pathogenic	2	47672797	47672797	G	C	reviewed by expert panel	ClinGen:CA018136
single nucleotide variant	NM_000251.3(MSH2):c.1386+1G>T	MSH2	Likely pathogenic	2	47672797	47672797	G	T	reviewed by expert panel	ClinGen:CA018142
single nucleotide variant	NM_000251.3(MSH2):c.1387-1G>T	MSH2	Likely pathogenic	2	47690169	47690169	G	T	reviewed by expert panel	ClinGen:CA018168
Deletion	NM_000251.1(MSH2):c.1387-3976_1662-364del	MSH2	Pathogenic	2	47686194	47697740	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.1387-9T>A	MSH2	Pathogenic	2	47690161	47690161	T	A	reviewed by expert panel	ClinGen:CA018205
Deletion	NM_000251.1(MSH2):c.1387-?_(*272_?)del	MSH2	Pathogenic	2	47690170	47710360	na	na	reviewed by expert panel	-
Deletion	NM_000251.2(MSH2):c.1387-?_1661+?del	MSH2	Pathogenic	2	47672797	47698103	na	na	reviewed by expert panel	LOVD 3:MSH2_000946