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.1901_1902del (p.Thr633_Leu634insTer)	MSH6	Pathogenic	2	48027023	48027024	TTG	T	reviewed by expert panel	ClinGen:CA009420
Duplication	NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)	MSH6	Pathogenic	2	48027078	48027079	G	GGTGA	reviewed by expert panel	ClinGen:CA009492
single nucleotide variant	NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	MSH6	Likely pathogenic	2	48027179	48027179	G	A	reviewed by expert panel	ClinGen:CA009620
single nucleotide variant	NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)	MSH6	Pathogenic	2	48027183	48027183	T	A	reviewed by expert panel	ClinGen:CA009627
single nucleotide variant	NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	MSH6	Pathogenic	2	48027227	48027227	C	G	reviewed by expert panel	ClinGen:CA009686
single nucleotide variant	NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)	MSH6	Likely pathogenic	2	48027239	48027239	T	C	reviewed by expert panel	ClinGen:CA009702
single nucleotide variant	NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)	MSH6	Pathogenic	2	48027249	48027249	T	A	reviewed by expert panel	ClinGen:CA009710
Deletion	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6	Pathogenic	2	48027269	48027272	ACAGT	A	reviewed by expert panel	ClinGen:CA009744
single nucleotide variant	NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)	MSH6	Pathogenic	2	48027313	48027313	C	T	reviewed by expert panel	ClinGen:CA009848
single nucleotide variant	NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	MSH6	Pathogenic	2	48027316	48027316	C	T	reviewed by expert panel	ClinGen:CA009856