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.3956del (p.Pro1319fs)	APC	Pathogenic	5	112175246	112175246	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042095
Deletion	NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)	APC	Pathogenic/Likely pathogenic	5	112177241	112177244	AAATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042097
single nucleotide variant	NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)	APC	Pathogenic/Likely pathogenic	5	112177662	112177662	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16035281
single nucleotide variant	NM_000038.6(APC):c.3607G>T (p.Gly1203Ter)	APC	Pathogenic/Likely pathogenic	5	112174898	112174898	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029254
Deletion	NM_000038.6(APC):c.4901del (p.Pro1634fs)	APC	Pathogenic	5	112176191	112176191	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043407
single nucleotide variant	NM_000038.6(APC):c.3916G>T (p.Glu1306Ter)	APC	Pathogenic	5	112175207	112175207	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029925
single nucleotide variant	NM_000038.6(APC):c.4099C>T (p.Gln1367Ter)	APC	Pathogenic	5	112175390	112175390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030309
single nucleotide variant	NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)	APC	Pathogenic	5	112175423	112175423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030382
single nucleotide variant	NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)	APC	Pathogenic	5	112175426	112175426	G	T	criteria provided, single submitter	ClinGen:CA16030390
single nucleotide variant	NM_000038.6(APC):c.4285C>T (p.Gln1429Ter)	APC	Pathogenic	5	112175576	112175576	C	T	criteria provided, single submitter	ClinGen:CA16030720