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.99del (p.Gln33fs)	LDLR	Pathogenic	19	11210930	11210930	AG	A	criteria provided, single submitter	ClinGen:CA10584751,LDLR-LOVD, British Heart Foundation:LDLR_001898
single nucleotide variant	NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)	LDLR	Pathogenic/Likely pathogenic	19	11210931	11210931	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584752,LDLR-LOVD, British Heart Foundation:LDLR_001214
single nucleotide variant	NM_000527.5(LDLR):c.101G>C (p.Cys34Ser)	LDLR	Likely pathogenic	19	11210932	11210932	G	C	criteria provided, single submitter	ClinGen:CA10584753,LDLR-LOVD, British Heart Foundation:LDLR_000018
single nucleotide variant	NM_000527.5(LDLR):c.102C>A (p.Cys34Ter)	LDLR	Pathogenic	19	11210933	11210933	C	A	criteria provided, single submitter	ClinGen:CA10584754,LDLR-LOVD, British Heart Foundation:LDLR_001330
single nucleotide variant	NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)	LDLR	Pathogenic	19	11210934	11210934	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584755,LDLR-LOVD, British Heart Foundation:LDLR_001334
Deletion	NM_000527.5(LDLR):c.108del (p.Asp36fs)	LDLR	Pathogenic	19	11210939	11210939	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584757,LDLR-LOVD, British Heart Foundation:LDLR_000817
Duplication	NM_000527.5(LDLR):c.114dup (p.Cys39fs)	LDLR	Pathogenic	19	11210945	11210945	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584758,LDLR-LOVD, British Heart Foundation:LDLR_000960
Indel	NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)	LDLR	Pathogenic	19	11210947	11210948	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584759,LDLR-LOVD, British Heart Foundation:LDLR_001246
Deletion	NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)	LDLR	Pathogenic	19	11210948	11210948	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584760,LDLR-LOVD, British Heart Foundation:LDLR_001371
Deletion	NM_000527.5(LDLR):c.118del (p.Ile40fs)	LDLR	Pathogenic	19	11210949	11210949	CA	C	criteria provided, single submitter	ClinGen:CA10584761,LDLR-LOVD, British Heart Foundation:LDLR_000382