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.1503+1G>C	PTCH1	Pathogenic/Likely pathogenic	9	98239828	98239828	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348486
Deletion	NM_000264.5(PTCH1):c.1329del (p.Ser444fs)	PTCH1	Pathogenic	9	98240355	98240355	TG	T	criteria provided, single submitter	ClinGen:CA350347
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.2332A>C (p.Thr778Pro)	PTCH1	Likely pathogenic	9	98229626	98229626	T	G	criteria provided, single submitter	ClinGen:CA351583
single nucleotide variant	NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)	PTCH1	Pathogenic/Likely pathogenic	9	98215815	98215815	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582674,UniProtKB:Q13635#VAR_010980
single nucleotide variant	NM_000264.5(PTCH1):c.2561-2A>T	PTCH1	Pathogenic	9	98224282	98224282	T	A	criteria provided, single submitter	ClinGen:CA10582678
single nucleotide variant	NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter)	PTCH1	Pathogenic	9	98229567	98229567	G	T	criteria provided, single submitter	ClinGen:CA10582679
Deletion	NM_000264.5(PTCH1):c.1615del (p.Glu539fs)	PTCH1	Pathogenic	9	98238429	98238429	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582682
Deletion	NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220392	98220419	GAGGCCGATGTACTGCTCCCAGAAGAGGA	G	criteria provided, single submitter	ClinGen:CA10588476
Deletion	NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220421	98220421	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588477