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
copy number loss	GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1	PTCH1	Pathogenic	9	98207091	98210940	na	na	criteria provided, single submitter	ClinGen:CA645372487
Indel	NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs)	PTCH1	Pathogenic	9	98229416	98229419	AGTA	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA339614
single nucleotide variant	NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)	PTCH1	Likely pathogenic	9	98212184	98212184	C	A	criteria provided, single submitter	ClinGen:CA350612
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