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.3593C>G (p.Ser1198Ter)	APC	Pathogenic	5	112174884	112174884	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584250
Deletion	NM_000038.6(APC):c.4647del (p.Glu1550fs)	APC	Likely pathogenic	5	112175937	112175937	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584252
Duplication	NM_000038.6(APC):c.6010dup (p.Ala2004fs)	APC	Pathogenic/Likely pathogenic	5	112177300	112177301	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584259
Indel	NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs)	APC	Pathogenic/Likely pathogenic	5	112177384	112177386	TAT	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584260
Deletion	NM_002439.5(MSH3):c.2760del (p.Tyr921fs)	MSH3	Pathogenic/Likely pathogenic	5	80109506	80109506	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3328349,OMIM:600887.0003
single nucleotide variant	NM_002439.5(MSH3):c.2319-1G>A	MSH3	Pathogenic	5	80074538	80074538	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586320,OMIM:600887.0004
Deletion	NM_001048174.2(MUTYH):c.1103-32_1115del	MUTYH	Pathogenic/Likely pathogenic	1	45797216	45797260	TCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588298
single nucleotide variant	NM_000038.6(APC):c.136-2A>G	APC	Pathogenic/Likely pathogenic	5	112102021	112102021	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588375
Deletion	NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer)	APC	Pathogenic/Likely pathogenic	5	112111410	112111411	TAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588376
single nucleotide variant	NM_000038.6(APC):c.573T>A (p.Tyr191Ter)	APC	Likely pathogenic	5	112116528	112116528	T	A	criteria provided, single submitter	ClinGen:CA10588377