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_000249.4(MLH1):c.122A>T (p.Asp41Val)	MLH1	Pathogenic	3	37038115	37038115	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352035346
Duplication	NM_000249.4(MLH1):c.833_834dup (p.Val279fs)	MLH1	Pathogenic	3	37059037	37059038	A	AAC	criteria provided, single submitter	ClinGen:CA658655808
single nucleotide variant	NM_000249.4(MLH1):c.885-1G>C	MLH1	Pathogenic/Likely pathogenic	3	37061800	37061800	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352048327
Indel	NM_000249.4(MLH1):c.1011_1014delinsAATGTGCA (p.Asn338fs)	MLH1	Pathogenic	3	37061927	37061930	CAAT	AATGTGCA	criteria provided, single submitter	ClinGen:CA658655819
Deletion	NM_000249.4(MLH1):c.1526del (p.Leu509fs)	MLH1	Pathogenic	3	37070391	37070391	CT	C	criteria provided, single submitter	ClinGen:CA658655844
single nucleotide variant	NM_000249.4(MLH1):c.1731+2T>C	MLH1	Pathogenic/Likely pathogenic	3	37083824	37083824	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352062181
single nucleotide variant	NM_000249.4(MLH1):c.1732-2A>C	MLH1	Pathogenic/Likely pathogenic	3	37089008	37089008	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA352064122
single nucleotide variant	NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)	MLH1	Pathogenic	3	37090475	37090475	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352068228
single nucleotide variant	NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)	MLH1	Pathogenic	3	37053316	37053316	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352041895
Indel	NM_000249.4(MLH1):c.1261delinsTAT (p.Ser421fs)	MLH1	Pathogenic	3	37067350	37067350	A	TAT	criteria provided, single submitter	ClinGen:CA658655830