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
single nucleotide variant	NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)	LDLR	Pathogenic	19	11227558	11227558	T	G	reviewed by expert panel	ClinGen:CA10585585,LDLR-LOVD, British Heart Foundation:LDLR_001257,UniProtKB:P01130#VAR_072853
single nucleotide variant	NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)	LDLR	Pathogenic/Likely pathogenic	19	11227559	11227559	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA036295,LDLR-LOVD, British Heart Foundation:LDLR_001507,UniProtKB:P01130#VAR_072854
Deletion	NM_000527.5(LDLR):c.1730_1738del (p.Trp577_Asp579del)	LDLR	Likely pathogenic	19	11227559	11227567	TACTGGGTTG	T	criteria provided, single submitter	ClinGen:CA10585586,LDLR-LOVD, British Heart Foundation:LDLR_001506
single nucleotide variant	NM_000527.5(LDLR):c.1736A>C (p.Asp579Ala)	LDLR	Likely pathogenic	19	11227565	11227565	A	C	criteria provided, single submitter	ClinGen:CA10585590,LDLR-LOVD, British Heart Foundation:LDLR_000894
single nucleotide variant	NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly)	LDLR	Likely pathogenic	19	11227565	11227565	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585591,LDLR-LOVD, British Heart Foundation:LDLR_001511
single nucleotide variant	NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu)	LDLR	Likely pathogenic	19	11227566	11227566	C	G	criteria provided, single submitter	ClinGen:CA10585592,LDLR-LOVD, British Heart Foundation:LDLR_001512
Deletion	NM_000527.5(LDLR):c.1737del (p.Ser580fs)	LDLR	Pathogenic	19	11227566	11227566	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585593,LDLR-LOVD, British Heart Foundation:LDLR_001513
Deletion	NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs)	LDLR	Pathogenic	19	11227574	11227575	CTT	C	criteria provided, single submitter	ClinGen:CA10585594,LDLR-LOVD, British Heart Foundation:LDLR_000418
single nucleotide variant	NM_000527.5(LDLR):c.1748A>G (p.His583Arg)	LDLR	Likely pathogenic	19	11227577	11227577	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585595,LDLR-LOVD, British Heart Foundation:LDLR_001516
single nucleotide variant	NM_000527.5(LDLR):c.1749C>A (p.His583Gln)	LDLR	Likely pathogenic	19	11227578	11227578	C	A	criteria provided, single submitter	ClinGen:CA10585596,LDLR-LOVD, British Heart Foundation:LDLR_001518