家族性大腸腺腫症

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_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45805892	45805892	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617170
Deletion	NM_000038.6(APC):c.233_236del (p.Asp78fs)	APC	Pathogenic	5	112102895	112102898	TTAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618066
Deletion	NM_000038.6(APC):c.298del (p.Glu100fs)	APC	Pathogenic/Likely pathogenic	5	112102961	112102961	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618067
Deletion	NM_000038.6(APC):c.341del (p.Pro114fs)	APC	Pathogenic	5	112103005	112103005	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618068
single nucleotide variant	NM_000038.6(APC):c.350C>A (p.Ser117Ter)	APC	Pathogenic	5	112103015	112103015	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022086
single nucleotide variant	NM_000038.6(APC):c.583C>T (p.Gln195Ter)	APC	Pathogenic	5	112116538	112116538	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022611
single nucleotide variant	NM_000038.6(APC):c.835-8A>G	APC	Likely pathogenic	5	112151184	112151184	A	G	reviewed by expert panel	ClinGen:CA16618069
single nucleotide variant	NM_000038.6(APC):c.931A>T (p.Lys311Ter)	APC	Pathogenic	5	112151288	112151288	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16023345
Deletion	NM_000038.6(APC):c.956del (p.Leu319fs)	APC	Pathogenic	5	112154684	112154684	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618070
Deletion	NM_000038.6(APC):c.1210del (p.Ile404fs)	APC	Pathogenic	5	112154937	112154937	GA	G	criteria provided, single submitter	ClinGen:CA16618071