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
Deletion	NM_000527.5(LDLR):c.1162del (p.His388fs)	LDLR	Pathogenic	19	11222287	11222287	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576300,LDLR-LOVD, British Heart Foundation:LDLR_000326
single nucleotide variant	NM_000527.5(LDLR):c.1187-10G>A	LDLR	Pathogenic/Likely pathogenic	19	11223944	11223944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA032735,LDLR-LOVD, British Heart Foundation:LDLR_000172
single nucleotide variant	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR	Pathogenic	19	11223983	11223983	C	T	reviewed by expert panel	ClinGen:CA033073,LDLR-LOVD, British Heart Foundation:LDLR_000177,UniProtKB:P01130#VAR_072847
single nucleotide variant	NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)	LDLR	Likely pathogenic	19	11223984	11223984	G	C	reviewed by expert panel	ClinGen:CA10576302,LDLR-LOVD, British Heart Foundation:LDLR_000651
single nucleotide variant	NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)	LDLR	Pathogenic/Likely pathogenic	19	11224052	11224052	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576303,LDLR-LOVD, British Heart Foundation:LDLR_000183
single nucleotide variant	NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro)	LDLR	Likely pathogenic	19	11224097	11224097	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576304,LDLR-LOVD, British Heart Foundation:LDLR_001052
Duplication	NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs)	LDLR	Pathogenic	19	11224223	11224226	T	TGACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576305,LDLR-LOVD, British Heart Foundation:LDLR_000386
single nucleotide variant	NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)	LDLR	Pathogenic	19	11224300	11224300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576306,LDLR-LOVD, British Heart Foundation:LDLR_001431
single nucleotide variant	NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)	LDLR	Pathogenic	19	11224321	11224321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576307,LDLR-LOVD, British Heart Foundation:LDLR_000203
single nucleotide variant	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR	Pathogenic	19	11226801	11226801	G	A	reviewed by expert panel	ClinGen:CA035437,LDLR-LOVD, British Heart Foundation:LDLR_001473