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.3395C>T (p.Ser1132Phe)	PTCH1	Pathogenic/Likely pathogenic	9	98215814	98215814	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.1216-1G>A	PTCH1	Pathogenic/Likely pathogenic	9	98240469	98240469	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.202-2A>C	PTCH1	Pathogenic/Likely pathogenic	9	98268883	98268883	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374120777
single nucleotide variant	NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)	PTCH1	Pathogenic/Likely pathogenic	9	98212173	98212173	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374111537
single nucleotide variant	NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	PTCH1	Pathogenic/Likely pathogenic	9	98221936	98221936	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618903
single nucleotide variant	NM_000264.5(PTCH1):c.297C>T (p.Gly99=)	PTCH1	Pathogenic/Likely pathogenic	9	98268786	98268786	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612878
Deletion	NM_000264.5(PTCH1):c.114del (p.Leu39fs)	PTCH1	Pathogenic/Likely pathogenic	9	98270530	98270530	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043675
single nucleotide variant	NM_000264.5(PTCH1):c.1504-1G>C	PTCH1	Pathogenic/Likely pathogenic	9	98239140	98239140	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042793
single nucleotide variant	NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)	PTCH1	Pathogenic/Likely pathogenic	9	98215815	98215815	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582674,UniProtKB:Q13635#VAR_010980
single nucleotide variant	NM_000264.5(PTCH1):c.1503+1G>C	PTCH1	Pathogenic/Likely pathogenic	9	98239828	98239828	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348486