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_000264.5(PTCH1):c.1511C>A (p.Pro504Gln)	PTCH1	Likely pathogenic	9	98239132	98239132	G	T	criteria provided, single submitter	-
Indel	NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT	PTCH1	Likely pathogenic	9	98242664	98242670	GTACTCA	AGCG	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	-
single nucleotide variant	NM_016169.4(SUFU):c.597+1G>C	SUFU	Likely pathogenic	10	104352482	104352482	G	C	criteria provided, single submitter	-
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