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.677+1G>T	MLH1	Pathogenic	3	37053591	37053591	G	T	reviewed by expert panel	ClinGen:CA011528
Deletion	NM_000249.4(MLH1):c.677+1del	MLH1	Pathogenic	3	37053590	37053590	CG	C	reviewed by expert panel	ClinGen:CA011511
single nucleotide variant	NM_000249.4(MLH1):c.677+3A>G	MLH1	Pathogenic	3	37053593	37053593	A	G	reviewed by expert panel	ClinGen:CA011545
single nucleotide variant	NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	MLH1	Pathogenic	3	37053590	37053590	G	A	reviewed by expert panel	ClinGen:CA011583
single nucleotide variant	NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)	MLH1	Likely pathogenic	3	37053590	37053590	G	T	reviewed by expert panel	ClinGen:CA011592,UniProtKB:P40692#VAR_004451
Indel	NM_000249.4(MLH1):c.677_677+1delinsAT	MLH1	Pathogenic	3	37053590	37053591	GG	AT	reviewed by expert panel	ClinGen:CA331098
Insertion	NM_000249.4(MLH1):c.677_677+1insT	MLH1	Likely pathogenic	3	37053590	37053591	G	GT	reviewed by expert panel	ClinGen:CA331099
single nucleotide variant	NM_000249.4(MLH1):c.678-1G>C	MLH1	Pathogenic	3	37055922	37055922	G	C	reviewed by expert panel	ClinGen:CA011606
single nucleotide variant	NM_000249.4(MLH1):c.678-1G>T	MLH1	Likely pathogenic	3	37055922	37055922	G	T	reviewed by expert panel	ClinGen:CA011615
single nucleotide variant	NM_000249.4(MLH1):c.678-2A>G	MLH1	Likely pathogenic	3	37055921	37055921	A	G	reviewed by expert panel	ClinGen:CA011623