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.343G>T (p.Gly115Ter)	PTCH1	Pathogenic	9	98268740	98268740	C	A	criteria provided, single submitter	ClinGen:CA275065
Deletion	NM_000264.5(PTCH1):c.371_387del (p.Asn124fs)	PTCH1	Pathogenic	9	98268696	98268712	CCCACAGCTCCTCCACGT	C	criteria provided, single submitter	ClinGen:CA645369460
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
single nucleotide variant	NM_000264.5(PTCH1):c.394+1G>A	PTCH1	Pathogenic	9	98268688	98268688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374120125
single nucleotide variant	NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)	PTCH1	Pathogenic	9	98248148	98248148	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374117333
Duplication	NM_000264.5(PTCH1):c.407dup (p.Ser137fs)	PTCH1	Pathogenic	9	98248143	98248144	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)	PTCH1	Pathogenic	9	98248118	98248118	G	A	criteria provided, single submitter	ClinGen:CA374117210
single nucleotide variant	NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)	PTCH1	Pathogenic	9	98248103	98248103	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374117142
Deletion	NM_000264.5(PTCH1):c.454_455del (p.Met152fs)	PTCH1	Pathogenic	9	98248096	98248097	CAT	C	criteria provided, single submitter	ClinGen:CA16612783
Deletion	NM_000264.5(PTCH1):c.482_491del (p.Thr161fs)	PTCH1	Pathogenic	9	98248060	98248069	TTCTTTAGGGG	T	criteria provided, single submitter	ClinGen:CA645369456