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
Deletion	NC_000005.10:g.(?_112766316)_(112844136_?)del	APC	Pathogenic	5	112102013	112179833	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112707312)_(112844136_?)del	APC	Pathogenic	5	112043009	112179833	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112707312)_(112780913_?)del	APC	Pathogenic	5	112043009	112116610	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112737024)_(112844136_?)del	APC	Pathogenic	5	112072721	112179833	na	na	criteria provided, single submitter	-
Deletion	NM_002439.5(MSH3):c.2807del (p.Phe936fs)	MSH3	Pathogenic	5	80109551	80109551	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2803del (p.Ile935fs)	MSH3	Pathogenic	5	80109550	80109550	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2695_2696del (p.Met899fs)	MSH3	Pathogenic	5	80109442	80109443	CAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)	MSH3	Pathogenic/Likely pathogenic	5	80109433	80109433	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)	MSH3	Pathogenic	5	80109410	80109410	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002439.5(MSH3):c.2216dup (p.Asn739fs)	MSH3	Pathogenic	5	80064779	80064780	T	TA	criteria provided, single submitter	-