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.3028del (p.Thr1010fs)	MSH6	Pathogenic	2	48028147	48028147	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369248
single nucleotide variant	NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)	MSH6	Pathogenic	2	48028186	48028186	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756531
single nucleotide variant	NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)	MSH6	Pathogenic/Likely pathogenic	2	48028210	48028210	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756575
Deletion	NM_000179.3(MSH6):c.3114del (p.Phe1037_Tyr1038insTer)	MSH6	Pathogenic	2	48028236	48028236	AT	A	criteria provided, single submitter	ClinGen:CA645369283
Indel	NM_000179.3(MSH6):c.3119_3133delinsAT (p.Phe1040fs)	MSH6	Pathogenic	2	48028241	48028255	TTGATAAAAATTACA	AT	criteria provided, single submitter	ClinGen:CA645369284
Deletion	NM_000179.3(MSH6):c.3139del (p.Trp1047fs)	MSH6	Pathogenic	2	48028261	48028261	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369285
single nucleotide variant	NM_000179.3(MSH6):c.3172+1G>A	MSH6	Pathogenic	2	48028295	48028295	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346756752
single nucleotide variant	NM_000179.3(MSH6):c.3173-1G>A	MSH6	Pathogenic/Likely pathogenic	2	48030558	48030558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346757809
Indel	NM_000179.3(MSH6):c.3253delinsTC (p.Thr1085fs)	MSH6	Pathogenic	2	48030639	48030639	A	TC	criteria provided, single submitter	ClinGen:CA645369287
Duplication	NM_000179.3(MSH6):c.3260_3261dup (p.Phe1088fs)	MSH6	Pathogenic	2	48030639	48030640	A	ACC	criteria provided, single submitter	ClinGen:CA1649449