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.3027C>A (p.Tyr1009Ter)	PTCH1	Pathogenic	9	98220436	98220436	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374112550
Deletion	NM_000264.5(PTCH1):c.2794del (p.Val932fs)	PTCH1	Pathogenic	9	98221975	98221975	AC	A	criteria provided, single submitter	ClinGen:CA645369449
Duplication	NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs)	PTCH1	Pathogenic	9	98222003	98222004	G	GTAGA	criteria provided, single submitter	ClinGen:CA645369450
Deletion	NM_000264.5(PTCH1):c.2598del (p.Ile868fs)	PTCH1	Pathogenic	9	98224243	98224243	TC	T	criteria provided, single submitter	ClinGen:CA645369409
single nucleotide variant	NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter)	PTCH1	Pathogenic	9	98231093	98231093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374115391
Deletion	NM_000264.5(PTCH1):c.1842del (p.Phe614fs)	PTCH1	Pathogenic	9	98232100	98232100	TA	T	criteria provided, single submitter	ClinGen:CA645369410
single nucleotide variant	NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter)	PTCH1	Pathogenic	9	98232138	98232138	G	A	criteria provided, single submitter	ClinGen:CA374116308
single nucleotide variant	NM_000264.5(PTCH1):c.1504-2A>C	PTCH1	Pathogenic	9	98239141	98239141	T	G	criteria provided, single submitter	ClinGen:CA374118361
single nucleotide variant	NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg)	PTCH1	Likely pathogenic	9	98239870	98239870	A	G	criteria provided, single submitter	ClinGen:CA374118459
single nucleotide variant	NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)	PTCH1	Pathogenic	9	98239953	98239953	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374118622