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.2453T>G (p.Leu818Ter)	PTCH1	Pathogenic	9	98229505	98229505	A	C	criteria provided, single submitter	ClinGen:CA374114113
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
Indel	NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs)	PTCH1	Likely pathogenic	9	98221935	98221935	C	GGGTCCACAACATCT	criteria provided, single submitter	ClinGen:CA658797236
single nucleotide variant	NM_016169.4(SUFU):c.847G>T (p.Glu283Ter)	SUFU	Likely pathogenic	10	104356987	104356987	G	T	criteria provided, single submitter	ClinGen:CA377910608
single nucleotide variant	NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)	PTCH1	Pathogenic	9	98229417	98229417	G	C	criteria provided, single submitter	ClinGen:CA374113735
Deletion	NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del)	PTCH1	Likely pathogenic	9	98247982	98247987	TACATGG	T	criteria provided, single submitter	ClinGen:CA658656059
Deletion	NC_000009.12:g.(?_95446906)_(95508367_?)del	PTCH1	Pathogenic	9	98209188	98270649	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter)	PTCH1	Pathogenic	9	98224222	98224222	G	C	criteria provided, single submitter	ClinGen:CA374113458
Duplication	NM_000264.5(PTCH1):c.1583dup (p.Asn528fs)	PTCH1	Pathogenic	9	98239059	98239060	A	AT	criteria provided, single submitter	ClinGen:CA658656040
Duplication	NM_000264.5(PTCH1):c.921dup (p.Ala308fs)	PTCH1	Pathogenic	9	98242695	98242696	C	CT	criteria provided, single submitter	ClinGen:CA658656054