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_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)	MSH6	Pathogenic	2	48026256	48026257	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578060
Duplication	NM_000179.3(MSH6):c.1519dup (p.Arg507fs)	MSH6	Pathogenic	2	48026640	48026641	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578072
Deletion	NM_000179.3(MSH6):c.1898del (p.Thr633fs)	MSH6	Pathogenic	2	48027020	48027020	AC	A	criteria provided, single submitter	ClinGen:CA10578083
Indel	NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs)	MSH6	Pathogenic	2	48027158	48027164	TGGCCCT	GG	criteria provided, single submitter	ClinGen:CA10578090
Indel	NM_000179.3(MSH6):c.2072_2073delinsATTA (p.Leu691fs)	MSH6	Pathogenic	2	48027194	48027195	TC	ATTA	criteria provided, single submitter	ClinGen:CA10578091
Deletion	NM_000179.3(MSH6):c.2212_2222del (p.Val738fs)	MSH6	Pathogenic	2	48027333	48027343	CAGTGACATTAA	C	criteria provided, single submitter	ClinGen:CA10578098
single nucleotide variant	NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)	MSH6	Pathogenic	2	48027453	48027453	G	A	criteria provided, single submitter	ClinGen:CA10578104
Deletion	NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)	MSH6	Pathogenic	2	48027767	48027775	TTTAAGTCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578109
Insertion	NM_000179.3(MSH6):c.2805_2806insTT (p.Asp936fs)	MSH6	Pathogenic	2	48027926	48027927	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578118
single nucleotide variant	NM_000179.3(MSH6):c.3801+1G>T	MSH6	Likely pathogenic	2	48033498	48033498	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578160