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
Insertion	NM_000251.2(MSH2):c.1077_1078ins173 (p.?)	MSH2	Pathogenic	2	47656881	47656882	na	na	reviewed by expert panel	-
Insertion	NM_000251.3(MSH2):c.1097_1098insA (p.Phe366fs)	MSH2	Pathogenic	2	47656901	47656902	T	TA	reviewed by expert panel	ClinGen:CA017234
Deletion	NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer)	MSH2	Pathogenic	2	47656903	47656903	TG	T	reviewed by expert panel	ClinGen:CA017239
Deletion	NM_000251.3(MSH2):c.1108del (p.Ala370fs)	MSH2	Pathogenic	2	47656912	47656912	TG	T	reviewed by expert panel	ClinGen:CA017247
Deletion	NM_000251.3(MSH2):c.110del (p.Phe37fs)	MSH2	Pathogenic	2	47630437	47630437	CT	C	reviewed by expert panel	ClinGen:CA017253
Deletion	NM_000251.3(MSH2):c.1119del (p.Arg373fs)	MSH2	Pathogenic	2	47656922	47656922	AG	A	reviewed by expert panel	ClinGen:CA017266
single nucleotide variant	NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)	MSH2	Pathogenic	2	47656924	47656924	C	T	reviewed by expert panel	ClinGen:CA017272
Duplication	NM_000251.3(MSH2):c.1127_1128dup (p.Gln377fs)	MSH2	Pathogenic	2	47656930	47656931	T	TTA	reviewed by expert panel	ClinGen:CA017300
single nucleotide variant	NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)	MSH2	Pathogenic	2	47656933	47656933	C	T	reviewed by expert panel	ClinGen:CA017309
Deletion	NM_000251.3(MSH2):c.1139del (p.Leu380fs)	MSH2	Pathogenic	2	47656941	47656941	AT	A	reviewed by expert panel	ClinGen:CA017331