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
Deletion	NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs)	PTCH1	Pathogenic	9	98221920	98221927	GTGGACCCA	G	criteria provided, single submitter	ClinGen:CA336680
Deletion	NM_000264.5(PTCH1):c.2799del (p.Tyr934fs)	PTCH1	Pathogenic	9	98221970	98221970	AC	A	criteria provided, single submitter	ClinGen:CA339017
single nucleotide variant	NM_000264.5(PTCH1):c.945+1G>A	PTCH1	Pathogenic	9	98242671	98242671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338385
single nucleotide variant	NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter)	PTCH1	Pathogenic	9	98244311	98244311	A	T	criteria provided, single submitter	ClinGen:CA338895
single nucleotide variant	NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter)	PTCH1	Pathogenic	9	98244458	98244458	G	C	criteria provided, single submitter	ClinGen:CA337335
Deletion	NM_000264.5(PTCH1):c.1591_1601del (p.Ile531fs)	PTCH1	Pathogenic	9	98239042	98239052	CTCAAAAGGGAT	C	criteria provided, single submitter	ClinGen:CA279155
single nucleotide variant	NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)	PTCH1	Pathogenic/Likely pathogenic	9	98239830	98239830	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279150
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