基底細胞母斑症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3168+2T>C	PTCH1	Pathogenic	9	98220293	98220293	A	G	criteria provided, single submitter	ClinGen:CA333995
single nucleotide variant	NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)	PTCH1	Pathogenic	9	98220311	98220311	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612669
Duplication	NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs)	PTCH1	Pathogenic	9	98220337	98220338	C	CA	criteria provided, single submitter	ClinGen:CA658657884
single nucleotide variant	NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)	PTCH1	Pathogenic	9	98220356	98220356	A	T	criteria provided, single submitter	ClinGen:CA374112378
Deletion	NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220392	98220419	GAGGCCGATGTACTGCTCCCAGAAGAGGA	G	criteria provided, single submitter	ClinGen:CA10588476
Deletion	NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)	PTCH1	Pathogenic	9	98220421	98220421	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588477
single nucleotide variant	NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)	PTCH1	Pathogenic	9	98220436	98220436	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374112550
single nucleotide variant	NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)	PTCH1	Pathogenic	9	98220460	98220460	A	T	criteria provided, single submitter	ClinGen:CA16612835
single nucleotide variant	NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)	PTCH1	Pathogenic	9	98220489	98220489	C	A	criteria provided, single submitter	ClinGen:CA16612920