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.7715C>G (p.Ser2572Ter)	APC	Pathogenic/Likely pathogenic	5	112179006	112179006	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578448
single nucleotide variant	NM_000038.6(APC):c.7709C>G (p.Ser2570Ter)	APC	Pathogenic	5	112179000	112179000	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.7692dup (p.Arg2565fs)	APC	Pathogenic/Likely pathogenic	5	112178981	112178982	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657463
single nucleotide variant	NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)	APC	Pathogenic	5	112178969	112178969	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)	APC	Pathogenic	5	112178803	112178803	G	A	criteria provided, single submitter	ClinGen:CA16037663
single nucleotide variant	NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)	APC	Pathogenic	5	112178802	112178802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA248496
single nucleotide variant	NM_000038.6(APC):c.7498C>T (p.Gln2500Ter)	APC	Pathogenic	5	112178789	112178789	C	T	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.7489dup (p.Ser2497fs)	APC	Pathogenic/Likely pathogenic	5	112178778	112178779	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.7438C>T (p.Gln2480Ter)	APC	Pathogenic	5	112178729	112178729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16037518
Deletion	NM_000038.6(APC):c.7432del (p.Gln2478fs)	APC	Pathogenic	5	112178721	112178721	TC	T	criteria provided, multiple submitters, no conflicts	-