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.645+1G>A	MSH2	Pathogenic	2	47637512	47637512	G	A	reviewed by expert panel	ClinGen:CA021643
single nucleotide variant	NM_000251.3(MSH2):c.645+1G>T	MSH2	Likely pathogenic	2	47637512	47637512	G	T	reviewed by expert panel	ClinGen:CA021649
Deletion	NM_000251.1(MSH2):c.645+539_1077-3451del	MSH2	Pathogenic	2	47638050	47653430	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.645+791_1076+4894del	MSH2	Pathogenic	2	47638302	47648462	na	na	reviewed by expert panel	-
Deletion	NM_000251.1(MSH2):c.645+967_1076+5075del	MSH2	Pathogenic	2	47638478	47648643	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000251.3(MSH2):c.646-2A>G	MSH2	Likely pathogenic	2	47639551	47639551	A	G	reviewed by expert panel	ClinGen:CA021672
single nucleotide variant	NM_000251.3(MSH2):c.646-3T>G	MSH2	Pathogenic	2	47639550	47639550	T	G	reviewed by expert panel	ClinGen:CA021679
Deletion	NM_000251.3(MSH2):c.646-3_654del	MSH2	Likely pathogenic	2	47639548	47639559	AAATAGATAATTC	A	reviewed by expert panel	ClinGen:CA331656
Deletion	NM_000251.1(MSH2):c.646-?_(*272_?)del	MSH2	Pathogenic	2	47639553	47710360	na	na	reviewed by expert panel	-
Deletion	NM_000251.3(MSH2):c.650_654del (p.Ile217fs)	MSH2	Pathogenic	2	47639555	47639559	TAATTC	T	reviewed by expert panel	ClinGen:CA021704