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.3168+5G>A	PTCH1	Pathogenic	9	98220290	98220290	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.3169-1G>A	PTCH1	Likely pathogenic	9	98218696	98218696	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612830
Duplication	NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs)	PTCH1	Pathogenic	9	98218576	98218577	G	GA	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs)	PTCH1	Pathogenic	9	98215894	98215895	C	CA	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)	PTCH1	Pathogenic	9	98215844	98215845	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612827
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.3395C>T (p.Ser1132Phe)	PTCH1	Pathogenic/Likely pathogenic	9	98215814	98215814	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer)	PTCH1	Pathogenic	9	98215780	98215781	CAG	C	criteria provided, single submitter	ClinGen:CA658657882
single nucleotide variant	NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser)	PTCH1	Likely pathogenic	9	98215769	98215769	A	G	criteria provided, single submitter	ClinGen:CA374111664
single nucleotide variant	NM_000264.5(PTCH1):c.3449+1G>A	PTCH1	Pathogenic	9	98215759	98215759	C	T	criteria provided, single submitter	ClinGen:CA336067