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	NC_000010.11:g.(?_102504143)_(102550116_?)del	SUFU	Pathogenic	10	104263900	104309873	na	na	criteria provided, single submitter	-
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.187G>T (p.Glu63Ter)	PTCH1	Pathogenic	9	98270457	98270457	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374121269
single nucleotide variant	NM_000264.5(PTCH1):c.201+1G>A	PTCH1	Likely pathogenic	9	98270442	98270442	C	T	criteria provided, single submitter	ClinGen:CA374121236
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
Deletion	NM_000264.5(PTCH1):c.202-16_227del	PTCH1	Pathogenic	9	98268856	98268897	CGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA	C	criteria provided, single submitter	ClinGen:CA658797250
single nucleotide variant	NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)	PTCH1	Pathogenic	9	98268849	98268849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374120644
Deletion	NM_000264.5(PTCH1):c.251_258del (p.Gln84fs)	PTCH1	Pathogenic	9	98268825	98268832	AGAGTCTCT	A	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.259_260del (p.Leu87fs)	PTCH1	Pathogenic	9	98268823	98268824	TAA	T	criteria provided, single submitter	ClinGen:CA658797248
Deletion	NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)	PTCH1	Pathogenic	9	98268804	98268804	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797247