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.1231A>G (p.Lys411Glu)	LDLR	Likely pathogenic	19	11223998	11223998	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585367,LDLR-LOVD, British Heart Foundation:LDLR_000896
Deletion	NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer)	LDLR	Pathogenic	19	11224000	11224000	AG	A	criteria provided, single submitter	ClinGen:CA10585368,LDLR-LOVD, British Heart Foundation:LDLR_000488
single nucleotide variant	NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)	LDLR	Pathogenic/Likely pathogenic	19	11224002	11224002	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585369,LDLR-LOVD, British Heart Foundation:LDLR_001000
single nucleotide variant	NM_000527.5(LDLR):c.1243G>C (p.Asp415His)	LDLR	Pathogenic/Likely pathogenic	19	11224010	11224010	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585371,LDLR-LOVD, British Heart Foundation:LDLR_000538
Duplication	NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs)	LDLR	Pathogenic	19	11224012	11224016	T	TGGACC	criteria provided, single submitter	ClinGen:CA10585374,LDLR-LOVD, British Heart Foundation:LDLR_001382
single nucleotide variant	NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro)	LDLR	Likely pathogenic	19	11224014	11224014	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585375,LDLR-LOVD, British Heart Foundation:LDLR_001016
single nucleotide variant	NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)	LDLR	Likely pathogenic	19	11224014	11224014	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585376,LDLR-LOVD, British Heart Foundation:LDLR_000181
single nucleotide variant	NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter)	LDLR	Pathogenic	19	11224019	11224019	G	T	criteria provided, single submitter	ClinGen:CA10585377,LDLR-LOVD, British Heart Foundation:LDLR_000729
single nucleotide variant	NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter)	LDLR	Pathogenic	19	11224024	11224024	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585379,LDLR-LOVD, British Heart Foundation:LDLR_001239
single nucleotide variant	NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)	LDLR	Pathogenic	19	11224024	11224024	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA033296,LDLR-LOVD, British Heart Foundation:LDLR_000539