家族性高コレステロール血症

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	c.(2311+1_2312-1)_*807del	LDLR	Pathogenic	19	11234021	11242799	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001295
Deletion	c.(2311+1_2312-1)_(*2514_?)del	LDLR	Pathogenic	19	11234021	11244506	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001295
Deletion	FH Vancouver 2	LDLR	Pathogenic	19	11238762	11241956	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001298,OMIM:606945.0035
Deletion	c.(2389+1_2390-1)_(*2514_?)del	LDLR	Pathogenic	19	11238762	11244506	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001297
Deletion	NM_000527.4(LDLR):c.-187_67+?del	LDLR	Pathogenic	19	11200038	11200291	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_174936.4(PCSK9):c.1120G>C (p.Asp374His)	PCSK9	Pathogenic	1	55523127	55523127	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588875,UniProtKB:Q8NBP7#VAR_058531
Deletion	NM_000384.3(APOB):c.13158del (p.Glu4387fs)	APOB	Pathogenic	2	21225136	21225136	CT	C	criteria provided, single submitter	ClinGen:CA10588883
Deletion	NM_000527.4(LDLR):c.1061-?_1845+?del	LDLR	Pathogenic	19	11222190	11227674	na	na	criteria provided, single submitter	-
Deletion	NM_000527.4(LDLR):c.2312-?_*2514del	LDLR	Pathogenic	19	11234021	11244506	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del)	LDLR	Pathogenic	19	11216198	11216218	AAGTGGCGAGTGCATCCACTCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588893