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.741del (p.Lys247fs)	MSH6	Pathogenic	2	48025857	48025857	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582041
Deletion	NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)	MSH6	Pathogenic/Likely pathogenic	2	48026471	48026472	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582048
Insertion	NM_000179.3(MSH6):c.1570_1571insC (p.Tyr524fs)	MSH6	Pathogenic	2	48026692	48026693	T	TC	criteria provided, single submitter	ClinGen:CA10582054
Indel	NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)	MSH6	Pathogenic/Likely pathogenic	2	48027178	48027182	GGTTG	CTTCTACCTCAAAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582058
single nucleotide variant	NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)	MSH6	Pathogenic	2	48027802	48027802	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582065
Duplication	NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)	MSH6	Pathogenic/Likely pathogenic	2	48028284	48028285	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582079
single nucleotide variant	NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)	MSH6	Pathogenic	2	48032087	48032087	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582086
Duplication	NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)	MSH6	Pathogenic	2	48033410	48033411	T	TATAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582087
Duplication	NM_000179.3(MSH6):c.3864dup (p.Phe1289fs)	MSH6	Pathogenic	2	48033650	48033651	T	TA	criteria provided, single submitter	ClinGen:CA10582090
Duplication	NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)	MSH6	Pathogenic	2	48033718	48033719	A	AGGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582093