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.642G>A (p.Trp214Ter)	LDLR	Pathogenic	19	11216224	11216224	G	A	reviewed by expert panel	ClinGen:CA10585029,LDLR-LOVD, British Heart Foundation:LDLR_001781
single nucleotide variant	NM_000527.5(LDLR):c.643C>A (p.Arg215Ser)	LDLR	Likely pathogenic	19	11216225	11216225	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585030,LDLR-LOVD, British Heart Foundation:LDLR_000090
Insertion	NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp)	LDLR	Likely pathogenic	19	11216225	11216226	C	CCAGCTGGCATCCACT	criteria provided, single submitter	ClinGen:CA10585031,LDLR-LOVD, British Heart Foundation:LDLR_001777
Deletion	NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer)	LDLR	Pathogenic	19	11216227	11216228	GCT	G	criteria provided, single submitter	ClinGen:CA10585032,LDLR-LOVD, British Heart Foundation:LDLR_000787
single nucleotide variant	NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)	LDLR	Likely pathogenic	19	11216228	11216228	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585033,LDLR-LOVD, British Heart Foundation:LDLR_000826
Deletion	NM_000527.5(LDLR):c.646del (p.Cys216fs)	LDLR	Pathogenic	19	11216228	11216228	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585034,LDLR-LOVD, British Heart Foundation:LDLR_001783
single nucleotide variant	NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216229	11216229	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585035,LDLR-LOVD, British Heart Foundation:LDLR_001113
single nucleotide variant	NM_000527.5(LDLR):c.647G>T (p.Cys216Phe)	LDLR	Likely pathogenic	19	11216229	11216229	G	T	criteria provided, single submitter	ClinGen:CA10585036,LDLR-LOVD, British Heart Foundation:LDLR_000091
Deletion	NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del)	LDLR	Likely pathogenic	19	11216230	11216238	TGTGATGGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585038,LDLR-LOVD, British Heart Foundation:LDLR_001785
Insertion	NM_000527.5(LDLR):c.649_650insT (p.Asp217fs)	LDLR	Pathogenic	19	11216231	11216232	G	GT	criteria provided, single submitter	ClinGen:CA10585039,LDLR-LOVD, British Heart Foundation:LDLR_000093