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.502G>T (p.Asp168Tyr)	LDLR	Likely pathogenic	19	11216084	11216084	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584951,LDLR-LOVD, British Heart Foundation:LDLR_000423,UniProtKB:P01130#VAR_005323
single nucleotide variant	NM_000527.5(LDLR):c.503A>G (p.Asp168Gly)	LDLR	Likely pathogenic	19	11216085	11216085	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584952,LDLR-LOVD, British Heart Foundation:LDLR_000066
single nucleotide variant	NM_000527.5(LDLR):c.506A>T (p.Asn169Ile)	LDLR	Likely pathogenic	19	11216088	11216088	A	T	criteria provided, single submitter	ClinGen:CA10584953,LDLR-LOVD, British Heart Foundation:LDLR_001123
Insertion	NM_000527.5(LDLR):c.508_509insC (p.Asp170fs)	LDLR	Pathogenic	19	11216090	11216091	G	GC	criteria provided, single submitter	ClinGen:CA10584954,LDLR-LOVD, British Heart Foundation:LDLR_000824
Deletion	NM_000527.5(LDLR):c.513del (p.Asp172fs)	LDLR	Pathogenic	19	11216092	11216092	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584955,LDLR-LOVD, British Heart Foundation:LDLR_000069
Duplication	NM_000527.5(LDLR):c.513dup (p.Asp172fs)	LDLR	Pathogenic	19	11216095	11216095	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584956,LDLR-LOVD, British Heart Foundation:LDLR_001750
single nucleotide variant	NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)	LDLR	Pathogenic/Likely pathogenic	19	11216096	11216096	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584957,LDLR-LOVD, British Heart Foundation:LDLR_001751,UniProtKB:P01130#VAR_072832
single nucleotide variant	NM_000527.5(LDLR):c.514G>C (p.Asp172His)	LDLR	Likely pathogenic	19	11216096	11216096	G	C	criteria provided, single submitter	ClinGen:CA10584958,LDLR-LOVD, British Heart Foundation:LDLR_000701,UniProtKB:P01130#VAR_013950
single nucleotide variant	NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216096	11216096	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584959,LDLR-LOVD, British Heart Foundation:LDLR_000974
single nucleotide variant	NM_000527.5(LDLR):c.515A>G (p.Asp172Gly)	LDLR	Likely pathogenic	19	11216097	11216097	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584960,LDLR-LOVD, British Heart Foundation:LDLR_001219