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_000251.3(MSH2):c.213_366+1del	MSH2	Pathogenic	2	47635536	47635690	TTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA	T	criteria provided, single submitter	ClinGen:CA645372532
Deletion	NM_000251.3(MSH2):c.646-1_648del	MSH2	Likely pathogenic	2	47639549	47639552	AATAG	A	criteria provided, single submitter	ClinGen:CA645372531
single nucleotide variant	NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg)	MSH2	Pathogenic	2	47643559	47643559	T	G	criteria provided, single submitter	ClinGen:CA346733265
Deletion	NM_000251.3(MSH2):c.1077_1276del	MSH2	Pathogenic	2	47656879	47657078	CAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372530
single nucleotide variant	NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)	MSH2	Pathogenic	2	47657019	47657019	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346734032
Deletion	NM_000251.3(MSH2):c.1557del (p.Phe519fs)	MSH2	Pathogenic	2	47693841	47693841	GT	G	criteria provided, single submitter	ClinGen:CA645372540
single nucleotide variant	NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)	MSH2	Pathogenic	2	47702286	47702286	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346728530
Deletion	NM_000251.3(MSH2):c.2082del (p.Phe694fs)	MSH2	Pathogenic	2	47703579	47703579	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA46702552
Deletion	NM_000251.3(MSH2):c.2145del (p.Asp716fs)	MSH2	Pathogenic	2	47703645	47703645	GT	G	criteria provided, single submitter	ClinGen:CA645372535
single nucleotide variant	NM_000251.3(MSH2):c.2211-2A>G	MSH2	Pathogenic/Likely pathogenic	2	47705409	47705409	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA46704739