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
Indel	NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA (p.His460_Asp466delinsProAlaTer)	LDLR	Pathogenic	19	11224231	11224248	ACGGCGTCTCTTCCTATG	CAGCTTA	criteria provided, single submitter	ClinGen:CA10585434,LDLR-LOVD, British Heart Foundation:LDLR_000194
Indel	NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer)	LDLR	Pathogenic	19	11224231	11224254	ACGGCGTCTCTTCCTATGACACCG	CAGCTTGACCCGC	criteria provided, single submitter	ClinGen:CA10585435,LDLR-LOVD, British Heart Foundation:LDLR_001417
Deletion	NM_000527.5(LDLR):c.1392del (p.Tyr465fs)	LDLR	Pathogenic	19	11224243	11224243	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585436,LDLR-LOVD, British Heart Foundation:LDLR_000732
Duplication	NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)	LDLR	Pathogenic/Likely pathogenic	19	11224267	11224270	G	GACAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585441,LDLR-LOVD, British Heart Foundation:LDLR_000330
Deletion	NM_000527.5(LDLR):c.1417_1431del (p.Ile473_Asp477del)	LDLR	Likely pathogenic	19	11224269	11224283	AGACATCCAGGCCCCC	A	criteria provided, single submitter	ClinGen:CA10585443,LDLR-LOVD, British Heart Foundation:LDLR_001423
single nucleotide variant	NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter)	LDLR	Pathogenic	19	11224272	11224272	C	T	criteria provided, single submitter	ClinGen:CA10585445,LDLR-LOVD, British Heart Foundation:LDLR_000798
Indel	NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs)	LDLR	Pathogenic	19	11224275	11224276	GC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585446,LDLR-LOVD, British Heart Foundation:LDLR_000845
single nucleotide variant	NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser)	LDLR	Likely pathogenic	19	11224278	11224278	C	T	criteria provided, single submitter	ClinGen:CA10585448,LDLR-LOVD, British Heart Foundation:LDLR_001053
Deletion	NM_000527.5(LDLR):c.1434del (p.Leu479fs)	LDLR	Pathogenic	19	11224284	11224284	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585449,LDLR-LOVD, British Heart Foundation:LDLR_000846
single nucleotide variant	NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)	LDLR	Likely pathogenic	19	11224288	11224288	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585450,LDLR-LOVD, British Heart Foundation:LDLR_000387,UniProtKB:P01130#VAR_062381