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_000249.4(MLH1):c.1988del (p.Glu663fs)	MLH1	Pathogenic	3	37090099	37090099	GA	G	reviewed by expert panel	ClinGen:CA007956
single nucleotide variant	NM_000249.4(MLH1):c.1989+1G>A	MLH1	Pathogenic	3	37090101	37090101	G	A	reviewed by expert panel	ClinGen:CA090784
single nucleotide variant	NM_000249.4(MLH1):c.1989+1G>C	MLH1	Likely pathogenic	3	37090101	37090101	G	C	reviewed by expert panel	ClinGen:CA007969
single nucleotide variant	NM_000249.4(MLH1):c.1989+1G>T	MLH1	Pathogenic	3	37090101	37090101	G	T	reviewed by expert panel	ClinGen:CA007977
single nucleotide variant	NM_000249.4(MLH1):c.1989+5G>C	MLH1	Pathogenic	3	37090105	37090105	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007990
single nucleotide variant	NM_000249.4(MLH1):c.1989G>A (p.Glu663=)	MLH1	Pathogenic	3	37090100	37090100	G	A	reviewed by expert panel	ClinGen:CA008008
single nucleotide variant	NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)	MLH1	Pathogenic	3	37090100	37090100	G	T	reviewed by expert panel	ClinGen:CA008016
Duplication	NM_000249.4(MLH1):c.198dup (p.Gly67fs)	MLH1	Pathogenic	3	37038189	37038190	A	AC	reviewed by expert panel	ClinGen:CA330870
Deletion	NM_000249.4(MLH1):c.1990-16_1990-2del	MLH1	Likely pathogenic	3	37090379	37090393	GAATTTCTTTGGACCA	G	reviewed by expert panel	ClinGen:CA330871
single nucleotide variant	NM_000249.4(MLH1):c.1990-1G>A	MLH1	Pathogenic	3	37090394	37090394	G	A	reviewed by expert panel	ClinGen:CA008052