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.7891del (p.Ser2631fs)	APC	Likely pathogenic	5	112179180	112179180	GT	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7946_7955del (p.Pro2649fs)	APC	Pathogenic	5	112179236	112179245	ACCTGCTGTTT	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7959_7962del (p.Thr2654fs)	APC	Pathogenic/Likely pathogenic	5	112179249	112179252	AAAAC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1	Likely pathogenic	16	2090045	2090045	GC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096271	2096272	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.203del (p.Gly68fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096280	2096280	AC	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000038.6(APC):c.2434_2443delinsCC (p.Asp812fs)	APC	Likely pathogenic	5	112173725	112173734	GACAATTTTA	CC	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2840_2841del (p.Cys947fs)	APC	Pathogenic	5	112174130	112174131	ATG	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)	APC	Pathogenic/Likely pathogenic	5	112175417	112175418	CTA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.388del (p.Ser130fs)	APC	Pathogenic/Likely pathogenic	5	112103051	112103051	GA	G	criteria provided, multiple submitters, no conflicts	-