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.283C>T (p.Gln95Ter)	PTCH1	Pathogenic	9	98268800	98268800	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000264.5(PTCH1):c.290del (p.Asn97fs)	PTCH1	Pathogenic	9	98268793	98268793	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645560459
Duplication	NM_000264.5(PTCH1):c.290dup (p.Asn97fs)	PTCH1	Pathogenic	9	98268792	98268793	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter)	PTCH1	Pathogenic	9	98268789	98268789	G	T	criteria provided, single submitter	ClinGen:CA374120337
Deletion	NM_000264.5(PTCH1):c.296del (p.Gly99fs)	PTCH1	Pathogenic	9	98268787	98268787	GC	G	criteria provided, single submitter	-
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.270_304del (p.Tyr93fs)	PTCH1	Pathogenic	9	98268779	98268813	AAGAACTTGCCGCAGTTTTTTTGAATGTAACAACCC	A	criteria provided, single submitter	ClinGen:CA350057
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