家族性大腸腺腫症

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2090005	2090005	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1	Likely pathogenic	16	2090045	2090045	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	NTHL1	Likely pathogenic	16	2090143	2090143	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093567	2093567	C	T	criteria provided, multiple submitters, no conflicts	OMIM:602656.0002,ClinGen:CA210446
single nucleotide variant	NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	NTHL1	Pathogenic	16	2093649	2093649	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.526-1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093728	2093728	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.525+1G>A	NTHL1	Likely pathogenic	16	2094630	2094630	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	NTHL1	Pathogenic	16	2094684	2094684	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002528.7(NTHL1):c.460del (p.Asp154fs)	NTHL1	Pathogenic	16	2094696	2094696	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2094723	2094723	G	A	criteria provided, multiple submitters, no conflicts	-