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.7270_7273del (p.Ser2424fs)	APC	Pathogenic	5	112178559	112178562	AAATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683427
Deletion	NM_000038.6(APC):c.1682del (p.Lys561fs)	APC	Pathogenic	5	112164604	112164604	TA	T	criteria provided, single submitter	ClinGen:CA658683416
Deletion	NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	MUTYH	Pathogenic/Likely pathogenic	1	45798503	45798503	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683153
single nucleotide variant	NM_000038.6(APC):c.646-2A>G	APC	Pathogenic/Likely pathogenic	5	112128141	112128141	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617504
Deletion	NM_000038.6(APC):c.4873del (p.Gln1625fs)	APC	Pathogenic/Likely pathogenic	5	112176164	112176164	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683423
Deletion	NM_000038.6(APC):c.2161_2170del (p.Gly721fs)	APC	Pathogenic	5	112173450	112173459	ATGGGAAGTGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683420
Deletion	NM_000038.5(APC):c.(?_-37541)_(-27791_?)del	APC	Pathogenic	5	112036100	112045850	na	na	criteria provided, single submitter	-
Indel	NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs)	APC	Likely pathogenic	5	112174326	112174328	ATC	T	criteria provided, single submitter	ClinGen:CA658683400
Deletion	NM_000038.6(APC):c.6381del (p.Ala2128fs)	APC	Pathogenic	5	112177671	112177671	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796582
single nucleotide variant	NM_000038.6(APC):c.1409-2A>G	APC	Pathogenic/Likely pathogenic	5	112162803	112162803	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA360619888