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
Duplication	NM_000527.5(LDLR):c.1533dup (p.Phe512fs)	LDLR	Pathogenic	19	11224385	11224385	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585495,LDLR-LOVD, British Heart Foundation:LDLR_001451
Deletion	NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs)	LDLR	Pathogenic	19	11224401	11224407	GGCTCCAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585498,LDLR-LOVD, British Heart Foundation:LDLR_001453
single nucleotide variant	NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser)	LDLR	Likely pathogenic	19	11224407	11224407	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585501,LDLR-LOVD, British Heart Foundation:LDLR_000212
single nucleotide variant	NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly)	LDLR	Pathogenic/Likely pathogenic	19	11224410	11224410	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585502,LDLR-LOVD, British Heart Foundation:LDLR_000875
Deletion	NM_000527.5(LDLR):c.1567_1575del (p.Val523_Asp525del)	LDLR	Likely pathogenic	19	11224419	11224427	CGTGGTGGAT	C	criteria provided, single submitter	ClinGen:CA10585505,LDLR-LOVD, British Heart Foundation:LDLR_000448
single nucleotide variant	NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)	LDLR	Likely pathogenic	19	11224423	11224423	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585506,LDLR-LOVD, British Heart Foundation:LDLR_001003
single nucleotide variant	NM_000527.5(LDLR):c.1586+1G>A	LDLR	Pathogenic/Likely pathogenic	19	11224439	11224439	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA035045,LDLR-LOVD, British Heart Foundation:LDLR_001460
single nucleotide variant	NM_000527.5(LDLR):c.1586+1G>T	LDLR	Likely pathogenic	19	11224439	11224439	G	T	criteria provided, single submitter	ClinGen:CA10585510,LDLR-LOVD, British Heart Foundation:LDLR_001461
single nucleotide variant	NM_000527.5(LDLR):c.1586+2T>A	LDLR	Pathogenic/Likely pathogenic	19	11224440	11224440	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585511,LDLR-LOVD, British Heart Foundation:LDLR_001462
single nucleotide variant	NM_000527.5(LDLR):c.1586+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11224440	11224440	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585512,LDLR-LOVD, British Heart Foundation:LDLR_001058