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.87_90del (p.Thr31fs)	MSH2	Pathogenic	2	47630417	47630420	AGCCG	A	criteria provided, single submitter	ClinGen:CA16610844
single nucleotide variant	NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)	MSH2	Pathogenic	2	47641445	47641445	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610850
single nucleotide variant	NM_000251.3(MSH2):c.943-1G>T	MSH2	Pathogenic	2	47643434	47643434	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610853
Deletion	NM_000179.3(MSH6):c.896del (p.Lys299fs)	MSH6	Pathogenic	2	48026016	48026016	GA	G	criteria provided, single submitter	ClinGen:CA16610870
Deletion	NM_000179.2(MSH6):c.261-3237_3735del	MSH6	Pathogenic	2	48014829	48033431	na	na	criteria provided, single submitter	-
Indel	NM_000251.3(MSH2):c.1470_1473delinsAAA (p.Met492fs)	MSH2	Pathogenic	2	47690253	47690256	GAAG	AAA	criteria provided, single submitter	ClinGen:CA16610873
single nucleotide variant	NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)	MSH2	Pathogenic/Likely pathogenic	2	47705520	47705520	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610892
single nucleotide variant	NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)	MSH6	Pathogenic/Likely pathogenic	2	48026927	48026927	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610899
Deletion	NM_000251.3(MSH2):c.2640_2656del (p.Glu881fs)	MSH2	Pathogenic	2	47709920	47709936	AAGGTGAAAAAATTATTC	A	criteria provided, single submitter	ClinGen:CA16610907
Duplication	NM_000179.3(MSH6):c.2294dup (p.Cys765fs)	MSH6	Pathogenic	2	48027415	48027416	T	TG	criteria provided, single submitter	ClinGen:CA16610910