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
Indel	NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs)	PTCH1	Pathogenic	9	98242797	98242800	GATA	ATC	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter)	PTCH1	Pathogenic	9	98244316	98244316	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.1216-1G>A	PTCH1	Pathogenic/Likely pathogenic	9	98240469	98240469	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000264.5(PTCH1):c.407dup (p.Ser137fs)	PTCH1	Pathogenic	9	98248143	98248144	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter)	PTCH1	Pathogenic	9	98229443	98229443	G	A	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.2244del (p.Ala749fs)	PTCH1	Pathogenic	9	98231039	98231039	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.1602+1G>A	PTCH1	Pathogenic	9	98239040	98239040	C	T	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.1353_1356dup (p.Ala453fs)	PTCH1	Pathogenic	9	98239975	98239976	C	CATAG	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.873del (p.Gly290_Tyr291insTer)	PTCH1	Pathogenic	9	98242744	98242744	TG	T	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.296del (p.Gly99fs)	PTCH1	Pathogenic	9	98268787	98268787	GC	G	criteria provided, single submitter	-