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.388del (p.Ser130fs)	APC	Pathogenic/Likely pathogenic	5	112103051	112103051	GA	G	criteria provided, multiple submitters, no conflicts	-
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_002528.7(NTHL1):c.203del (p.Gly68fs)	NTHL1	Pathogenic/Likely pathogenic	16	2096280	2096280	AC	A	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_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_001048174.2(MUTYH):c.381del (p.Lys127fs)	MUTYH	Pathogenic/Likely pathogenic	1	45798629	45798629	AC	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.5585dup (p.Leu1862fs)	APC	Pathogenic/Likely pathogenic	5	112176873	112176874	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796576
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
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
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