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_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH	Pathogenic	1	45805891	45805891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137829
single nucleotide variant	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH	Likely pathogenic	1	45805890	45805890	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340137825
single nucleotide variant	NM_000038.6(APC):c.135+1G>T	APC	Likely pathogenic	5	112090723	112090723	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617454
single nucleotide variant	NM_000038.6(APC):c.136-1G>A	APC	Likely pathogenic	5	112102022	112102022	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617462
Deletion	NM_000038.6(APC):c.506_510del (p.Ile169fs)	APC	Pathogenic	5	112111409	112111413	ATAGAT	A	criteria provided, single submitter	ClinGen:CA658657476
Deletion	NM_000038.6(APC):c.1246_1249del (p.Tyr416fs)	APC	Pathogenic	5	112154973	112154976	GCTTA	G	criteria provided, single submitter	ClinGen:CA658655915
single nucleotide variant	NM_000038.6(APC):c.1312+3A>C	APC	Pathogenic	5	112155044	112155044	A	C	criteria provided, single submitter	ClinGen:CA658655920
Deletion	NM_000038.6(APC):c.1358del (p.Leu453fs)	APC	Pathogenic	5	112157638	112157638	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655926
single nucleotide variant	NM_000038.6(APC):c.1409-3T>G	APC	Likely pathogenic	5	112162802	112162802	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655932
single nucleotide variant	NM_000038.6(APC):c.1606G>T (p.Glu536Ter)	APC	Pathogenic	5	112163683	112163683	G	T	criteria provided, single submitter	ClinGen:CA16024811