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.1753del (p.Leu585fs)	APC	Pathogenic	5	112170655	112170655	AC	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.1861dup (p.Thr621fs)	APC	Pathogenic	5	112170764	112170765	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1967_1974del (p.Leu656fs)	APC	Pathogenic	5	112173258	112173265	CTAAGAGAG	C	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1968_1971del (p.Glu658fs)	APC	Pathogenic	5	112173259	112173262	TAAGA	T	criteria provided, single submitter	-
Insertion	NM_000038.6(APC):c.1977_1978insTTTCT (p.Asn660fs)	APC	Pathogenic	5	112173268	112173269	C	CTTTCT	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1979del (p.Asn660fs)	APC	Pathogenic	5	112173269	112173269	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1993_1994del (p.Leu665fs)	APC	Pathogenic	5	112173283	112173284	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.2229del (p.Met743fs)	APC	Pathogenic	5	112173520	112173520	TG	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2336del (p.Asn778_Leu779insTer)	APC	Pathogenic	5	112173625	112173625	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.2424_2514dup (p.Gly839Ter)	APC	Pathogenic	5	112173712	112173713	T	TGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAA	criteria provided, single submitter	-