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.1342_1345del (p.Leu448fs)	PTCH1	Pathogenic	9	98240339	98240342	ATGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)	PTCH1	Pathogenic	9	98221967	98221967	A	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3488del (p.Gly1163fs)	PTCH1	Pathogenic	9	98212184	98212184	GC	G	criteria provided, single submitter	-
Duplication	NM_016169.4(SUFU):c.846dup (p.Glu283fs)	SUFU	Pathogenic	10	104356980	104356981	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)	SUFU	Pathogenic	10	104356964	104356964	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)	PTCH1	Pathogenic	9	98247972	98247972	G	T	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.627del (p.Ile210fs)	PTCH1	Pathogenic	9	98244443	98244443	TA	T	criteria provided, single submitter	-
Insertion	NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)	SUFU	Pathogenic	10	104357035	104357036	C	CTGTGT	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer)	PTCH1	Pathogenic	9	98242849	98242849	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)	PTCH1	Pathogenic	9	98242679	98242679	G	C	criteria provided, multiple submitters, no conflicts	-