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.1023-2A>T	SUFU	Likely pathogenic	10	104375023	104375023	A	T	criteria provided, single submitter	ClinGen:CA16612826
Deletion	NC_000010.11:g.(?_102593630)_(102597299_?)del	SUFU	Pathogenic	10	104353387	104357056	na	na	criteria provided, single submitter	-
Insertion	NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)	SUFU	Pathogenic	10	104357035	104357036	C	CTGTGT	criteria provided, single submitter	-
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
Duplication	NM_016169.4(SUFU):c.846dup (p.Glu283fs)	SUFU	Pathogenic	10	104356980	104356981	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)	SUFU	Pathogenic	10	104356964	104356964	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.684-2A>G	SUFU	Likely pathogenic	10	104353748	104353748	A	G	criteria provided, single submitter	-
Deletion	NM_016169.4(SUFU):c.649_661del (p.Gln217fs)	SUFU	Pathogenic	10	104353442	104353454	GGGCAGGGCATCCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_016169.4(SUFU):c.597+1G>C	SUFU	Likely pathogenic	10	104352482	104352482	G	C	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