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.1312+5G>C	APC	Pathogenic/Likely pathogenic	5	112155046	112155046	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588378
single nucleotide variant	NM_000038.6(APC):c.1409-6A>G	APC	Likely pathogenic	5	112162799	112162799	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588379
Deletion	NM_000038.6(APC):c.1522_1523del (p.Leu508fs)	APC	Pathogenic/Likely pathogenic	5	112162918	112162919	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588380
Deletion	NM_000038.6(APC):c.1548+3_1548+4del	APC	Likely pathogenic	5	112162946	112162947	GTA	G	criteria provided, single submitter	ClinGen:CA10588381
single nucleotide variant	NM_000038.6(APC):c.1715T>A (p.Leu572Ter)	APC	Likely pathogenic	5	112164641	112164641	T	A	criteria provided, single submitter	ClinGen:CA10588382
single nucleotide variant	NM_000038.6(APC):c.1958+3A>T	APC	Pathogenic/Likely pathogenic	5	112170865	112170865	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588383
single nucleotide variant	NM_000038.6(APC):c.3569C>A (p.Ser1190Ter)	APC	Pathogenic/Likely pathogenic	5	112174860	112174860	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588384
Deletion	NM_000038.6(APC):c.4741del (p.Ser1581fs)	APC	Likely pathogenic	5	112176030	112176030	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588385
Indel	NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs)	APC	Pathogenic/Likely pathogenic	5	112176084	112176091	CTTCAAAA	TGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588386
Deletion	NM_000038.6(APC):c.7931_7937del (p.Ile2644fs)	APC	Pathogenic	5	112179221	112179227	AATTTATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588389