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_000251.1(MSH2):c.1662-?_(*272_?)del	MSH2	Pathogenic	2	47698104	47710360	na	na	reviewed by expert panel	-
Deletion	NM_000251.3(MSH2):c.1665del (p.Lys555fs)	MSH2	Pathogenic	2	47698105	47698105	CA	C	reviewed by expert panel	ClinGen:CA018919
single nucleotide variant	NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser)	MSH2	Pathogenic/Likely pathogenic	2	47698109	47698109	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018940
Insertion	NM_000251.3(MSH2):c.1667_1668insA (p.Thr557fs)	MSH2	Pathogenic	2	47698109	47698110	T	TA	reviewed by expert panel	ClinGen:CA018930
Deletion	NM_000251.3(MSH2):c.1667del (p.Lys555_Leu556insTer)	MSH2	Pathogenic	2	47698108	47698108	AT	A	reviewed by expert panel	ClinGen:CA018935
single nucleotide variant	NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)	MSH2	Pathogenic	2	47630496	47630496	G	T	reviewed by expert panel	ClinGen:CA018959
Deletion	NM_000251.3(MSH2):c.166del (p.Glu56fs)	MSH2	Pathogenic	2	47630494	47630494	CG	C	reviewed by expert panel	ClinGen:CA018949
Deletion	NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)	MSH2	Pathogenic	2	47698116	47698116	CT	C	reviewed by expert panel	ClinGen:CA018970
Deletion	NM_000251.3(MSH2):c.1683del (p.Glu562fs)	MSH2	Pathogenic	2	47698124	47698124	GA	G	reviewed by expert panel	ClinGen:CA018992
Duplication	NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)	MSH2	Pathogenic	2	47698128	47698129	G	GT	reviewed by expert panel	ClinGen:CA331353