基底細胞母斑症候群

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
Deletion	NC_000010.11:g.(?_102504143)_(102550116_?)del	SUFU	Pathogenic	10	104263900	104309873	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_102549960)_(102550116_?)del	SUFU	Pathogenic	10	104309717	104309873	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.454+1G>A	SUFU	Pathogenic	10	104309864	104309864	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)	SUFU	Pathogenic	10	104309845	104309845	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612979
Deletion	NM_016169.4(SUFU):c.341del (p.Ser114fs)	SUFU	Pathogenic	10	104309750	104309750	AG	A	criteria provided, single submitter	ClinGen:CA16612919
single nucleotide variant	NM_016169.4(SUFU):c.183-1G>A	SUFU	Likely pathogenic	10	104268925	104268925	G	A	criteria provided, single submitter	ClinGen:CA377888078
single nucleotide variant	NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)	SUFU	Pathogenic	10	104264084	104264084	A	T	criteria provided, single submitter	-
Duplication	NM_016169.4(SUFU):c.171dup (p.Val58fs)	SUFU	Pathogenic	10	104264079	104264080	T	TC	criteria provided, single submitter	ClinGen:CA16612978
Deletion	NM_016169.4(SUFU):c.111del (p.Tyr38fs)	SUFU	Pathogenic	10	104264020	104264020	TC	T	criteria provided, single submitter	ClinGen:CA279033
Duplication	NM_016169.4(SUFU):c.71dup (p.Ala25fs)	SUFU	Pathogenic	10	104263973	104263974	G	GC	criteria provided, multiple submitters, no conflicts	OMIM:607035.0006