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
Deletion	NM_000264.5(PTCH1):c.1334del (p.Gly445fs)	PTCH1	Pathogenic	9	98240350	98240350	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369451
Deletion	NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer)	PTCH1	Pathogenic	9	98241378	98241378	CG	C	criteria provided, single submitter	ClinGen:CA645369455
single nucleotide variant	NM_000264.5(PTCH1):c.1068-1G>T	PTCH1	Likely pathogenic	9	98241430	98241430	C	A	criteria provided, single submitter	ClinGen:CA374119547
single nucleotide variant	NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)	PTCH1	Pathogenic	9	98242296	98242296	A	T	criteria provided, single submitter	ClinGen:CA374119650
Deletion	NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs)	PTCH1	Pathogenic	9	98242308	98242317	CCAGTGCATAT	C	criteria provided, single submitter	ClinGen:CA645369411
single nucleotide variant	NM_000264.5(PTCH1):c.945+2T>C	PTCH1	Pathogenic	9	98242670	98242670	A	G	criteria provided, single submitter	ClinGen:CA374113605
Deletion	NM_000264.5(PTCH1):c.877_887del (p.Asp293fs)	PTCH1	Pathogenic	9	98242730	98242740	GCAGGGGCGGTC	G	criteria provided, single submitter	ClinGen:CA645369457
Deletion	NM_000264.5(PTCH1):c.886del (p.Cys296fs)	PTCH1	Pathogenic	9	98242731	98242731	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369458
Deletion	NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)	PTCH1	Pathogenic	9	98242807	98242810	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369459
single nucleotide variant	NM_000264.5(PTCH1):c.746+1G>C	PTCH1	Pathogenic	9	98244230	98244230	C	G	criteria provided, single submitter	ClinGen:CA374114788