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
single nucleotide variant	NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)	MSH2	Pathogenic	2	47707870	47707870	G	T	criteria provided, single submitter	ClinGen:CA279661
single nucleotide variant	NM_000179.3(MSH6):c.261-1G>C	MSH6	Pathogenic/Likely pathogenic	2	48018065	48018065	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279746
Duplication	NM_000179.3(MSH6):c.900dup (p.Lys301fs)	MSH6	Pathogenic	2	48026020	48026021	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA279733
Indel	NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)	MSH6	Pathogenic	2	48026290	48026292	GAT	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA279673
Deletion	NM_000179.3(MSH6):c.1490_1491del (p.Arg497fs)	MSH6	Pathogenic	2	48026611	48026612	TAG	T	criteria provided, single submitter	ClinGen:CA279730
Deletion	NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)	MSH6	Pathogenic	2	48027927	48027928	CTG	C	criteria provided, single submitter	ClinGen:CA279815
single nucleotide variant	NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)	MSH6	Likely pathogenic	2	48028294	48028294	G	C	reviewed by expert panel	ClinGen:CA279731
Deletion	NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)	MSH6	Pathogenic	2	48030623	48030624	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279655
Duplication	NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)	MSH6	Pathogenic	2	48030716	48030717	T	TAATG	criteria provided, multiple submitters, no conflicts	ClinGen:CA012619
Deletion	NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)	MSH6	Pathogenic/Likely pathogenic	2	48032137	48032141	AGACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279747