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.1587-2A>G	LDLR	Likely pathogenic	19	11226768	11226768	A	G	criteria provided, single submitter	ClinGen:CA10585514,LDLR-LOVD, British Heart Foundation:LDLR_001015
single nucleotide variant	NM_000527.5(LDLR):c.1587-2A>T	LDLR	Pathogenic/Likely pathogenic	19	11226768	11226768	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585515,LDLR-LOVD, British Heart Foundation:LDLR_001466
single nucleotide variant	NM_000527.5(LDLR):c.1587-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11226769	11226769	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585516,LDLR-LOVD, British Heart Foundation:LDLR_000943
Deletion	NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)	LDLR	Pathogenic	19	11226770	11226774	GCTTCA	G	criteria provided, single submitter	ClinGen:CA10585517,LDLR-LOVD, British Heart Foundation:LDLR_001465
Deletion	NM_000527.5(LDLR):c.1592_1627del (p.Met531_Ile542del)	LDLR	Likely pathogenic	19	11226775	11226810	TTCATGTACTGGACTGACTGGGGAACTCCCGCCAAGA	T	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000552,ClinGen:CA10585518
single nucleotide variant	NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)	LDLR	Likely pathogenic	19	11226780	11226780	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585519,LDLR-LOVD, British Heart Foundation:LDLR_001467
single nucleotide variant	NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)	LDLR	Pathogenic	19	11226781	11226781	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001468,ClinGen:CA035378
single nucleotide variant	NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)	LDLR	Pathogenic	19	11226782	11226782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585520,LDLR-LOVD, British Heart Foundation:LDLR_000218
Deletion	NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del)	LDLR	Likely pathogenic	19	11226783	11226791	TACTGGACTG	T	criteria provided, single submitter	ClinGen:CA10585521,LDLR-LOVD, British Heart Foundation:LDLR_000738
single nucleotide variant	NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn)	LDLR	Likely pathogenic	19	11226784	11226784	C	A	criteria provided, single submitter	ClinGen:CA10585522,LDLR-LOVD, British Heart Foundation:LDLR_001059