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
Duplication	NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	MSH6	Pathogenic	2	48032123	48032124	T	TA	reviewed by expert panel	ClinGen:CA013204
Deletion	NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)	MSH6	Pathogenic	2	48032125	48032128	AGAGT	A	reviewed by expert panel	ClinGen:CA013228
Insertion	NM_000179.3(MSH6):c.3519_3520insA (p.Phe1174fs)	MSH6	Pathogenic	2	48032129	48032130	G	GA	reviewed by expert panel	ClinGen:CA013268
Duplication	NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)	MSH6	Pathogenic	2	48032127	48032128	G	GTGTT	reviewed by expert panel	ClinGen:CA013281
Deletion	NM_000179.3(MSH6):c.3556+3_3556+13del	MSH6	Likely pathogenic	2	48032167	48032177	GGTGAGTTTTTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA330535
Deletion	NM_000179.2(MSH6):c.3557-?_(*93_?)del	MSH6	Pathogenic	2	48032167	48034093	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	MSH6	Likely pathogenic	2	48032777	48032777	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013478,UniProtKB:P52701#VAR_043970
Duplication	NM_000179.3(MSH6):c.3635dup (p.Asp1213fs)	MSH6	Pathogenic	2	48032834	48032835	G	GT	reviewed by expert panel	ClinGen:CA013580
Deletion	NM_000179.3(MSH6):c.3646_3646+3del	MSH6	Likely pathogenic	2	48032844	48032847	TTAGG	T	reviewed by expert panel	ClinGen:CA330544
single nucleotide variant	NM_000179.3(MSH6):c.3647-1G>A	MSH6	Pathogenic	2	48033342	48033342	G	A	reviewed by expert panel	ClinGen:CA013645