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_000179.3(MSH6):c.315G>A (p.Trp105Ter)	MSH6	Pathogenic	2	48018120	48018120	G	A	criteria provided, single submitter	ClinGen:CA346736853
Duplication	NM_000179.3(MSH6):c.496dup (p.Tyr166fs)	MSH6	Pathogenic	2	48023066	48023067	A	AT	criteria provided, single submitter	ClinGen:CA658655689
Duplication	NM_000179.3(MSH6):c.1383dup (p.Pro462fs)	MSH6	Pathogenic	2	48026502	48026503	C	CT	criteria provided, single submitter	ClinGen:CA658655753
Insertion	NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)	MSH2	Pathogenic	2	47707927	47707928	C	CCA	criteria provided, single submitter	ClinGen:CA658655776
Deletion	NM_000179.3(MSH6):c.1984del (p.Gly661_Met662insTer)	MSH6	Pathogenic	2	48027106	48027106	TA	T	criteria provided, single submitter	ClinGen:CA658655797
single nucleotide variant	NM_000251.3(MSH2):c.2006-3T>G	MSH2	Likely pathogenic	2	47703503	47703503	T	G	criteria provided, single submitter	ClinGen:CA658655726
single nucleotide variant	NM_000179.3(MSH6):c.2070C>A (p.Tyr690Ter)	MSH6	Pathogenic	2	48027192	48027192	C	A	criteria provided, single submitter	ClinGen:CA346750796
single nucleotide variant	NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)	MSH6	Pathogenic	2	48026430	48026430	C	A	criteria provided, single submitter	ClinGen:CA346744333
single nucleotide variant	NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)	MSH6	Pathogenic	2	48010592	48010592	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346735083
Deletion	NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs)	MSH6	Pathogenic/Likely pathogenic	2	48027473	48027474	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655812