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
Indel	NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)	MSH6	Likely pathogenic	2	48030742	48030744	AAG	GAT	criteria provided, single submitter	ClinGen:CA645369286
single nucleotide variant	NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)	MSH6	Pathogenic	2	48030744	48030744	G	T	criteria provided, single submitter	ClinGen:CA346758771
single nucleotide variant	NM_000179.3(MSH6):c.3438G>C (p.Gln1146His)	MSH6	Likely pathogenic	2	48030824	48030824	G	C	criteria provided, single submitter	ClinGen:CA346758973
single nucleotide variant	NM_000179.3(MSH6):c.3439-2A>T	MSH6	Pathogenic	2	48032047	48032047	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346759882
single nucleotide variant	NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp)	MSH6	Likely pathogenic	2	48032062	48032062	C	A	criteria provided, single submitter	ClinGen:CA346759989
Deletion	NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)	MSH6	Pathogenic	2	48032087	48032087	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369305
Insertion	NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)	MSH6	Pathogenic/Likely pathogenic	2	48032123	48032124	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369306
single nucleotide variant	NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)	MSH6	Pathogenic	2	48032149	48032149	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA071147
single nucleotide variant	NM_000179.3(MSH6):c.3557-1G>C	MSH6	Pathogenic/Likely pathogenic	2	48032756	48032756	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346760398
Deletion	NM_000179.3(MSH6):c.3577del (p.Glu1193fs)	MSH6	Pathogenic	2	48032777	48032777	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369304