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.2910_2911del (p.Ser970fs)	APC	Pathogenic	5	112174200	112174201	AGT	A	criteria provided, single submitter	ClinGen:CA16611800
Deletion	NM_000038.6(APC):c.3577_3578del (p.Gln1193fs)	APC	Pathogenic	5	112174867	112174868	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611810
single nucleotide variant	NM_000038.6(APC):c.6976C>T (p.Arg2326Ter)	APC	Pathogenic/Likely pathogenic	5	112178267	112178267	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16036541
single nucleotide variant	NM_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter)	MUTYH	Likely pathogenic	1	45796215	45796215	A	C	criteria provided, single submitter	ClinGen:CA16617152
Duplication	NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs)	MUTYH	Pathogenic/Likely pathogenic	1	45796882	45796883	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617154
Deletion	NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797094	45797094	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617155
single nucleotide variant	NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser)	MUTYH	Likely pathogenic	1	45797333	45797333	C	T	criteria provided, single submitter	ClinGen:CA16617156
Indel	NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs)	MUTYH	Pathogenic	1	45798130	45798135	GTGCTA	AGCAGCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617162
single nucleotide variant	NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798248	45798248	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617164
Deletion	NM_001128425.2(MUTYH):c.200del (p.Gly67fs)	MUTYH	Pathogenic/Likely pathogenic	1	45799233	45799233	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA055834