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.1240del (p.Arg414fs)	APC	Likely pathogenic	5	112154969	112154969	AC	A	reviewed by expert panel	ClinGen:CA645509160
single nucleotide variant	NM_000038.6(APC):c.1333C>T (p.Gln445Ter)	APC	Pathogenic	5	112157613	112157613	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16024224
Deletion	NM_000038.6(APC):c.1626_1626+6del	APC	Likely pathogenic	5	112163702	112163708	CAGGTACT	C	criteria provided, single submitter	ClinGen:CA645509156
single nucleotide variant	NM_000038.6(APC):c.1744-2A>T	APC	Pathogenic/Likely pathogenic	5	112170646	112170646	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360622290
Duplication	NM_000038.6(APC):c.1951dup (p.Asp651fs)	APC	Likely pathogenic	5	112170853	112170854	A	AG	criteria provided, single submitter	ClinGen:CA645509157
Indel	NM_000038.6(APC):c.2008_2014delinsTAGTTTTGTA (p.Lys670_His672delinsTer)	APC	Pathogenic	5	112173299	112173305	AAATCTC	TAGTTTTGTA	criteria provided, single submitter	ClinGen:CA645509158
Duplication	NM_000038.6(APC):c.4260dup (p.Ser1421fs)	APC	Likely pathogenic	5	112175547	112175548	G	GC	criteria provided, single submitter	ClinGen:CA645509161
single nucleotide variant	NM_000038.6(APC):c.6496C>T (p.Arg2166Ter)	APC	Pathogenic	5	112177787	112177787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16035547
Deletion	NM_000038.6(APC):c.6542_6545del (p.Ile2181fs)	APC	Likely pathogenic	5	112177830	112177833	AAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509164
single nucleotide variant	NM_000038.6(APC):c.532-1G>A	APC	Pathogenic/Likely pathogenic	5	112116486	112116486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617495