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.1706C>A (p.Ala569Asp)	PTCH1	Pathogenic	9	98238338	98238338	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.1999G>T (p.Glu667Ter)	PTCH1	Pathogenic	9	98231284	98231284	C	A	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.2010_2011dup (p.His671fs)	PTCH1	Pathogenic	9	98231271	98231272	T	TGG	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter)	PTCH1	Pathogenic	9	98229455	98229455	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter)	PTCH1	Pathogenic	9	98220498	98220498	C	A	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs)	PTCH1	Pathogenic	9	98218576	98218577	G	GA	criteria provided, single submitter	-
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.1737_1745del (p.Val580_Val582del)	PTCH1	Likely pathogenic	9	98232197	98232205	CACCACTACT	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1764del (p.Leu589fs)	PTCH1	Pathogenic	9	98232178	98232178	GA	G	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.652dup (p.Gln218fs)	PTCH1	Pathogenic	9	98244417	98244418	T	TG	criteria provided, single submitter	-