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.1438G>C (p.Ala480Pro)	LDLR	Likely pathogenic	19	11224290	11224290	G	C	criteria provided, single submitter	ClinGen:CA10585451,LDLR-LOVD, British Heart Foundation:LDLR_000199
Deletion	NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs)	LDLR	Pathogenic	19	11224291	11224301	GCTGGCTGTGGA	G	criteria provided, single submitter	ClinGen:CA10585452,LDLR-LOVD, British Heart Foundation:LDLR_001427
single nucleotide variant	NM_000527.5(LDLR):c.1444G>C (p.Asp482His)	LDLR	Likely pathogenic	19	11224296	11224296	G	C	criteria provided, single submitter	ClinGen:CA10585454,LDLR-LOVD, British Heart Foundation:LDLR_001429,UniProtKB:P01130#VAR_005391
single nucleotide variant	NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr)	LDLR	Likely pathogenic	19	11224296	11224296	G	T	criteria provided, single submitter	ClinGen:CA10585455,LDLR-LOVD, British Heart Foundation:LDLR_001103
single nucleotide variant	NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly)	LDLR	Likely pathogenic	19	11224297	11224297	A	G	criteria provided, single submitter	ClinGen:CA10585456,LDLR-LOVD, British Heart Foundation:LDLR_000200
single nucleotide variant	NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter)	LDLR	Pathogenic	19	11224301	11224301	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585458,LDLR-LOVD, British Heart Foundation:LDLR_000327
single nucleotide variant	NM_000527.5(LDLR):c.1454A>G (p.His485Arg)	LDLR	Likely pathogenic	19	11224306	11224306	A	G	criteria provided, single submitter	ClinGen:CA10585460,LDLR-LOVD, British Heart Foundation:LDLR_001433,UniProtKB:P01130#VAR_005394
single nucleotide variant	NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)	LDLR	Pathogenic/Likely pathogenic	19	11224315	11224315	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585466,LDLR-LOVD, British Heart Foundation:LDLR_001438
single nucleotide variant	NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)	LDLR	Likely pathogenic	19	11224315	11224315	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585467,LDLR-LOVD, British Heart Foundation:LDLR_000799
single nucleotide variant	NM_000527.5(LDLR):c.1463T>G (p.Ile488Ser)	LDLR	Likely pathogenic	19	11224315	11224315	T	G	criteria provided, single submitter	ClinGen:CA10585468,LDLR-LOVD, British Heart Foundation:LDLR_000202