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.1787C>G (p.Ser596Ter)	APC	Pathogenic	5	112170691	112170691	C	G	criteria provided, single submitter	ClinGen:CA16025228
single nucleotide variant	NM_000038.6(APC):c.2093T>G (p.Leu698Ter)	APC	Pathogenic	5	112173384	112173384	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025901
Deletion	NM_000038.6(APC):c.2819del (p.Ser940fs)	APC	Pathogenic	5	112174110	112174110	TC	T	criteria provided, single submitter	ClinGen:CA645372780
single nucleotide variant	NM_000038.6(APC):c.2950G>T (p.Glu984Ter)	APC	Pathogenic	5	112174241	112174241	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027776
single nucleotide variant	NM_000038.6(APC):c.2995C>T (p.Gln999Ter)	APC	Pathogenic	5	112174286	112174286	C	T	criteria provided, single submitter	ClinGen:CA16027884
Deletion	NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)	APC	Pathogenic	5	112174735	112174738	CTGAA	C	criteria provided, single submitter	ClinGen:CA645372785
single nucleotide variant	NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)	APC	Pathogenic	5	112174745	112174745	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16028909
Deletion	NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)	APC	Pathogenic	5	112174758	112174761	GAAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372786
Deletion	NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer)	APC	Pathogenic	5	112174785	112174789	AAATAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372787
single nucleotide variant	NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)	APC	Pathogenic	5	112174833	112174833	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029114