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.357del (p.Lys120fs)	LDLR	Pathogenic	19	11215937	11215937	TG	T	criteria provided, single submitter	ClinGen:CA10584871,LDLR-LOVD, British Heart Foundation:LDLR_001709
single nucleotide variant	NM_000527.5(LDLR):c.361T>A (p.Cys121Ser)	LDLR	Likely pathogenic	19	11215943	11215943	T	A	criteria provided, single submitter	ClinGen:CA10584872,LDLR-LOVD, British Heart Foundation:LDLR_001710
single nucleotide variant	NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)	LDLR	Pathogenic/Likely pathogenic	19	11215943	11215943	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584873,LDLR-LOVD, British Heart Foundation:LDLR_001711
single nucleotide variant	NM_000527.5(LDLR):c.361T>G (p.Cys121Gly)	LDLR	Likely pathogenic	19	11215943	11215943	T	G	criteria provided, single submitter	ClinGen:CA10584874,LDLR-LOVD, British Heart Foundation:LDLR_000935
single nucleotide variant	NM_000527.5(LDLR):c.362G>C (p.Cys121Ser)	LDLR	Likely pathogenic	19	11215944	11215944	G	C	criteria provided, single submitter	ClinGen:CA10584875,LDLR-LOVD, British Heart Foundation:LDLR_000053
single nucleotide variant	NM_000527.5(LDLR):c.362G>T (p.Cys121Phe)	LDLR	Likely pathogenic	19	11215944	11215944	G	T	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001713,ClinGen:CA10584876
single nucleotide variant	NM_000527.5(LDLR):c.364A>T (p.Ile122Phe)	LDLR	Likely pathogenic	19	11215946	11215946	A	T	criteria provided, single submitter	ClinGen:CA10584877,LDLR-LOVD, British Heart Foundation:LDLR_000653
Duplication	NM_000527.5(LDLR):c.366dup (p.Ser123fs)	LDLR	Pathogenic	19	11215948	11215948	T	TC	criteria provided, single submitter	ClinGen:CA10584878,LDLR-LOVD, British Heart Foundation:LDLR_001714
Deletion	NM_000527.5(LDLR):c.369_393del (p.Arg124fs)	LDLR	Pathogenic	19	11215951	11215975	TCTCGGCAGTTCGTCTGTGACTCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584882,LDLR-LOVD, British Heart Foundation:LDLR_001715
Insertion	NM_000527.5(LDLR):c.371_372insC (p.Gln125fs)	LDLR	Pathogenic	19	11215953	11215954	G	GC	criteria provided, single submitter	ClinGen:CA10584885,LDLR-LOVD, British Heart Foundation:LDLR_000976