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
Deletion	NM_016169.4(SUFU):c.71del (p.Pro24fs)	SUFU	Pathogenic	10	104263974	104263974	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116365,OMIM:607035.0005
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
single nucleotide variant	NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)	PTCH1	Pathogenic	9	98241416	98241416	G	A	criteria provided, single submitter	ClinGen:CA254337
single nucleotide variant	NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)	PTCH1	Pathogenic	9	98241337	98241337	C	T	criteria provided, single submitter	OMIM:601309.0005
Duplication	NM_000264.5(PTCH1):c.1261dup (p.Ser421fs)	PTCH1	Pathogenic	9	98240422	98240423	G	GA	criteria provided, single submitter	OMIM:601309.0016
single nucleotide variant	NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)	PTCH1	Pathogenic	9	98268696	98268696	C	T	criteria provided, single submitter	OMIM:601309.0017
single nucleotide variant	NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)	PTCH1	Pathogenic	9	98241404	98241404	G	A	criteria provided, single submitter	ClinGen:CA270768,OMIM:601309.0003
single nucleotide variant	NM_000264.5(PTCH1):c.3168+2T>C	PTCH1	Pathogenic	9	98220293	98220293	A	G	criteria provided, single submitter	ClinGen:CA333995
single nucleotide variant	NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)	PTCH1	Likely pathogenic	9	98229463	98229463	A	T	criteria provided, single submitter	ClinGen:CA334396
single nucleotide variant	NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter)	PTCH1	Pathogenic	9	98268740	98268740	C	A	criteria provided, single submitter	ClinGen:CA275065