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.971del (p.Gly324fs)	LDLR	Pathogenic	19	11221357	11221357	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585233,LDLR-LOVD, British Heart Foundation:LDLR_001892
single nucleotide variant	NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)	LDLR	Likely pathogenic	19	11221361	11221361	G	A	reviewed by expert panel	ClinGen:CA10585234,LDLR-LOVD, British Heart Foundation:LDLR_001893
single nucleotide variant	NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)	LDLR	Pathogenic	19	11221364	11221364	C	G	reviewed by expert panel	ClinGen:CA10585235,LDLR-LOVD, British Heart Foundation:LDLR_001894,UniProtKB:P01130#VAR_072842
single nucleotide variant	NM_000527.5(LDLR):c.977C>T (p.Ser326Phe)	LDLR	Likely pathogenic	19	11221364	11221364	C	T	reviewed by expert panel	ClinGen:CA10585236,LDLR-LOVD, British Heart Foundation:LDLR_000963
Duplication	NM_000527.5(LDLR):c.980dup (p.His327fs)	LDLR	Pathogenic	19	11221367	11221367	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585237,LDLR-LOVD, British Heart Foundation:LDLR_001148
single nucleotide variant	NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)	LDLR	Pathogenic/Likely pathogenic	19	11221372	11221372	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585238,LDLR-LOVD, British Heart Foundation:LDLR_000450
single nucleotide variant	NM_000527.5(LDLR):c.986G>T (p.Cys329Phe)	LDLR	Likely pathogenic	19	11221373	11221373	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585239,LDLR-LOVD, British Heart Foundation:LDLR_001897,UniProtKB:P01130#VAR_067196
single nucleotide variant	NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)	LDLR	Pathogenic	19	11221395	11221395	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585242,LDLR-LOVD, British Heart Foundation:LDLR_001320
Deletion	NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer)	LDLR	Pathogenic	19	11221395	11221395	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585243,LDLR-LOVD, British Heart Foundation:LDLR_001321
Deletion	NM_000527.5(LDLR):c.1009_1032del (p.Glu337_Phe344del)	LDLR	Likely pathogenic	19	11221396	11221419	ACGAGTGCCTGTGCCCCGACGGCTT	A	criteria provided, single submitter	ClinGen:CA10585244,LDLR-LOVD, British Heart Foundation:LDLR_000516