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.3147G>A (p.Trp1049Ter)	APC	Pathogenic	5	112174438	112174438	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279705
Deletion	NM_000038.6(APC):c.3298_3301del (p.Ser1100fs)	APC	Pathogenic	5	112174589	112174592	TTCTC	T	criteria provided, single submitter	ClinGen:CA279781
Deletion	NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs)	APC	Pathogenic	5	112174593	112174596	CCATA	C	criteria provided, single submitter	ClinGen:CA279671
Duplication	NM_000038.6(APC):c.3535dup (p.Tyr1179fs)	APC	Pathogenic	5	112174824	112174825	A	AT	criteria provided, single submitter	ClinGen:CA279745
single nucleotide variant	NM_000038.6(APC):c.3602C>A (p.Ser1201Ter)	APC	Pathogenic	5	112174893	112174893	C	A	criteria provided, single submitter	ClinGen:CA248552
single nucleotide variant	NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)	APC	Pathogenic	5	112174979	112174979	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279680
Duplication	NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)	APC	Pathogenic/Likely pathogenic	5	112175075	112175076	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA279736
single nucleotide variant	NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)	APC	Pathogenic	5	112175101	112175101	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279753
single nucleotide variant	NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)	APC	Pathogenic	5	112175106	112175106	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279822
Duplication	NM_000038.6(APC):c.4025dup (p.Leu1342fs)	APC	Pathogenic	5	112175313	112175314	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279778