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.428G>A (p.Cys143Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216010	11216010	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584917,LDLR-LOVD, British Heart Foundation:LDLR_000059
Duplication	NM_000527.5(LDLR):c.431_434dup (p.Leu146fs)	LDLR	Pathogenic	19	11216013	11216016	C	CCGGT	criteria provided, single submitter	ClinGen:CA10584918,LDLR-LOVD, British Heart Foundation:LDLR_001735
single nucleotide variant	NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	LDLR	Likely pathogenic	19	11216022	11216022	C	T	reviewed by expert panel	ClinGen:CA10584919,LDLR-LOVD, British Heart Foundation:LDLR_000314
single nucleotide variant	NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)	LDLR	Pathogenic/Likely pathogenic	19	11216024	11216024	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584920,LDLR-LOVD, British Heart Foundation:LDLR_000822
single nucleotide variant	NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11216025	11216025	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584921,LDLR-LOVD, British Heart Foundation:LDLR_000720,UniProtKB:P01130#VAR_072829
single nucleotide variant	NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)	LDLR	Pathogenic/Likely pathogenic	19	11216025	11216025	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584922,LDLR-LOVD, British Heart Foundation:LDLR_000869
single nucleotide variant	NM_000527.5(LDLR):c.444T>G (p.Cys148Trp)	LDLR	Likely pathogenic	19	11216026	11216026	T	G	criteria provided, single submitter	ClinGen:CA10584923,LDLR-LOVD, British Heart Foundation:LDLR_000354
Duplication	NM_000527.5(LDLR):c.450dup (p.Ala151fs)	LDLR	Pathogenic	19	11216032	11216032	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584925,LDLR-LOVD, British Heart Foundation:LDLR_001737
Deletion	NM_000527.5(LDLR):c.451_453del (p.Ala151del)	LDLR	Likely pathogenic	19	11216033	11216035	CCCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584927,LDLR-LOVD, British Heart Foundation:LDLR_000823
single nucleotide variant	NM_000527.5(LDLR):c.457T>G (p.Phe153Val)	LDLR	Likely pathogenic	19	11216039	11216039	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584928,LDLR-LOVD, British Heart Foundation:LDLR_000678