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.1877_1883del (p.Phe626fs)	MLH1	Pathogenic	3	37089153	37089159	ATTTCTCT	A	reviewed by expert panel	ClinGen:CA007275
Deletion	NM_000249.4(MLH1):c.1877del (p.Phe626fs)	MLH1	Pathogenic	3	37089153	37089153	AT	A	reviewed by expert panel	ClinGen:CA007293
single nucleotide variant	NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)	MLH1	Pathogenic/Likely pathogenic	3	37038180	37038180	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007334
Deletion	NM_000249.4(MLH1):c.1880_1883del (p.Ser627fs)	MLH1	Pathogenic	3	37089157	37089160	CTCTT	C	reviewed by expert panel	ClinGen:CA007341
Deletion	NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)	MLH1	Pathogenic	3	37089162	37089166	TGGAAA	T	reviewed by expert panel	ClinGen:CA007355
Deletion	NM_000249.4(MLH1):c.1893del (p.Asp631fs)	MLH1	Pathogenic	3	37089171	37089171	AT	A	reviewed by expert panel	ClinGen:CA007377
single nucleotide variant	NM_000249.4(MLH1):c.1896+1G>A	MLH1	Likely pathogenic	3	37089175	37089175	G	A	reviewed by expert panel	ClinGen:CA007410
single nucleotide variant	NM_000249.4(MLH1):c.1896+1G>T	MLH1	Likely pathogenic	3	37089175	37089175	G	T	reviewed by expert panel	ClinGen:CA007419
Deletion	NM_000249.4(MLH1):c.1896+1del	MLH1	Likely pathogenic	3	37089174	37089174	AG	A	reviewed by expert panel	ClinGen:CA007403
single nucleotide variant	NM_000249.4(MLH1):c.1896+2T>C	MLH1	Likely pathogenic	3	37089176	37089176	T	C	reviewed by expert panel	ClinGen:CA007427