家族性高コレステロール血症

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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
single nucleotide variant	NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr)	LDLR	Likely pathogenic	19	11226786	11226786	G	T	criteria provided, single submitter	ClinGen:CA10585523,LDLR-LOVD, British Heart Foundation:LDLR_001469
single nucleotide variant	NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly)	LDLR	Likely pathogenic	19	11226789	11226789	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585524,LDLR-LOVD, British Heart Foundation:LDLR_001470
single nucleotide variant	NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter)	LDLR	Pathogenic	19	11226790	11226790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585525,LDLR-LOVD, British Heart Foundation:LDLR_000848
single nucleotide variant	NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter)	LDLR	Pathogenic	19	11226792	11226792	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585526,LDLR-LOVD, British Heart Foundation:LDLR_000849
Deletion	NM_000527.5(LDLR):c.1610del (p.Gly537fs)	LDLR	Pathogenic	19	11226790	11226790	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585527,LDLR-LOVD, British Heart Foundation:LDLR_000219
single nucleotide variant	NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)	LDLR	Likely pathogenic	19	11226801	11226801	G	T	reviewed by expert panel	ClinGen:CA10585529,LDLR-LOVD, British Heart Foundation:LDLR_001060
single nucleotide variant	NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser)	LDLR	Pathogenic/Likely pathogenic	19	11226808	11226808	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585531,LDLR-LOVD, British Heart Foundation:LDLR_001474
Deletion	NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn)	LDLR	Pathogenic/Likely pathogenic	19	11226812	11226835	AAGAAAGGGGGCCTGAATGGTGTGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585532,LDLR-LOVD, British Heart Foundation:LDLR_001475
Deletion	NM_000527.5(LDLR):c.1632del (p.Gly546fs)	LDLR	Pathogenic	19	11226813	11226813	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585533,LDLR-LOVD, British Heart Foundation:LDLR_001476
single nucleotide variant	NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)	LDLR	Pathogenic/Likely pathogenic	19	11226816	11226816	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585534,LDLR-LOVD, British Heart Foundation:LDLR_001210