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	NM_000038.6(APC):c.6281_6282del (p.Pro2094fs)	APC	Pathogenic/Likely pathogenic	5	112177572	112177573	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509162
Deletion	NM_000038.6(APC):c.6281del (p.Pro2094fs)	APC	Pathogenic/Likely pathogenic	5	112177569	112177569	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578425
Indel	NM_000038.6(APC):c.6247_6250delinsTGT (p.Ile2083fs)	APC	Pathogenic	5	112177538	112177541	ATAC	TGT	criteria provided, single submitter	ClinGen:CA16611670
Deletion	NM_000038.6(APC):c.6201del (p.Asn2067fs)	APC	Pathogenic	5	112177492	112177492	AT	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6150_6151del (p.Lys2052fs)	APC	Likely pathogenic	5	112177440	112177441	AAG	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6137del (p.Ala2046fs)	APC	Pathogenic	5	112177428	112177428	GC	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6126_6141del (p.Ile2043fs)	APC	Pathogenic	5	112177413	112177428	GAATGTATAAGCTCCGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010951
Indel	NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs)	APC	Pathogenic/Likely pathogenic	5	112177384	112177386	TAT	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584260
Deletion	NM_000038.6(APC):c.6091del (p.Ser2031fs)	APC	Pathogenic	5	112177382	112177382	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6065C>G (p.Ser2022Ter)	APC	Pathogenic	5	112177356	112177356	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16034606