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_000038.6(APC):c.832C>T (p.Gln278Ter)	APC	Pathogenic	5	112137078	112137078	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16023148
single nucleotide variant	NM_000038.6(APC):c.1548+1G>A	APC	Pathogenic	5	112162945	112162945	G	A	criteria provided, single submitter	ClinGen:CA360619892
Deletion	NM_000038.6(APC):c.1643del (p.Val547_Leu548insTer)	APC	Pathogenic	5	112164566	112164566	GT	G	criteria provided, single submitter	ClinGen:CA445757375
Deletion	NM_000038.6(APC):c.1759del (p.Ser587fs)	APC	Pathogenic	5	112170660	112170660	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA445758382
Deletion	NM_000038.6(APC):c.2837del (p.Thr946fs)	APC	Pathogenic	5	112174128	112174128	AC	A	criteria provided, single submitter	ClinGen:CA658655993
Deletion	NC_000005.10:g.(?_112707312)_(112780909_?)del	APC	Pathogenic	5	112043009	112116606	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.2991T>G (p.Tyr997Ter)	APC	Pathogenic	5	112174282	112174282	T	G	criteria provided, single submitter	ClinGen:CA16027877
single nucleotide variant	NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)	APC	Likely pathogenic	5	112174374	112174374	G	T	reviewed by expert panel	ClinGen:CA16028086
single nucleotide variant	NM_000038.6(APC):c.3184C>T (p.Gln1062Ter)	APC	Pathogenic	5	112174475	112174475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16028314
Deletion	NM_000038.6(APC):c.3343del (p.Val1115fs)	APC	Pathogenic	5	112174634	112174634	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655910