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
Insertion	NM_000264.5(PTCH1):c.2931_2932insGTAGA (p.Leu978fs)	PTCH1	Pathogenic	9	98220531	98220532	G	GTCTAC	criteria provided, single submitter	ClinGen:CA658657885
single nucleotide variant	NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter)	PTCH1	Pathogenic	9	98231221	98231221	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374115737
Deletion	NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del)	PTCH1	Likely pathogenic	9	98239900	98239914	GCAACCAGCAGGACGC	G	criteria provided, single submitter	ClinGen:CA658656046
single nucleotide variant	NM_000264.5(PTCH1):c.1603-2A>C	PTCH1	Pathogenic	9	98238443	98238443	T	G	criteria provided, single submitter	ClinGen:CA374118135
Deletion	NM_000264.5(PTCH1):c.290del (p.Asn97fs)	PTCH1	Pathogenic	9	98268793	98268793	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645560459
single nucleotide variant	NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)	PTCH1	Pathogenic	9	98220356	98220356	A	T	criteria provided, single submitter	ClinGen:CA374112378
single nucleotide variant	NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)	PTCH1	Pathogenic	9	98239064	98239064	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA374118196
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
single nucleotide variant	NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)	PTCH1	Pathogenic	9	98241288	98241288	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA374119216
Deletion	NM_000264.5(PTCH1):c.259_260del (p.Leu87fs)	PTCH1	Pathogenic	9	98268823	98268824	TAA	T	criteria provided, single submitter	ClinGen:CA658797248