基底細胞母斑症候群

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_016169.4(SUFU):c.183-1G>A	SUFU	Likely pathogenic	10	104268925	104268925	G	A	criteria provided, single submitter	ClinGen:CA377888078
Deletion	NC_000010.11:g.(?_102593630)_(102597299_?)del	SUFU	Pathogenic	10	104353387	104357056	na	na	criteria provided, single submitter	-
Duplication	NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)	SUFU	Pathogenic	10	104352468	104352469	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658012
single nucleotide variant	NM_016169.4(SUFU):c.847G>T (p.Glu283Ter)	SUFU	Likely pathogenic	10	104356987	104356987	G	T	criteria provided, single submitter	ClinGen:CA377910608
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
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.341del (p.Ser114fs)	SUFU	Pathogenic	10	104309750	104309750	AG	A	criteria provided, single submitter	ClinGen:CA16612919
single nucleotide variant	NM_016169.4(SUFU):c.1023-2A>T	SUFU	Likely pathogenic	10	104375023	104375023	A	T	criteria provided, single submitter	ClinGen:CA16612826
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