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
Insertion	NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)	LDLR	Likely pathogenic	19	11200238	11200239	G	GCTTTC	criteria provided, single submitter	ClinGen:CA085175
single nucleotide variant	NM_000527.5(LDLR):c.28T>A (p.Trp10Arg)	LDLR	Likely pathogenic	19	11200252	11200252	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584725,LDLR-LOVD, British Heart Foundation:LDLR_001681
single nucleotide variant	NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)	LDLR	Pathogenic/Likely pathogenic	19	11200252	11200252	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584726,LDLR-LOVD, British Heart Foundation:LDLR_000260
single nucleotide variant	NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)	LDLR	Pathogenic	19	11200254	11200254	G	A	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)	LDLR	Pathogenic	19	11200257	11200260	A	ACCGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584728,LDLR-LOVD, British Heart Foundation:LDLR_001703
Deletion	NM_000527.5(LDLR):c.28_38del (p.Trp10fs)	LDLR	Pathogenic	19	11200252	11200262	GCGCTGGACCGT	G	criteria provided, single submitter	ClinGen:CA10584727,LDLR-LOVD, British Heart Foundation:LDLR_001677
Deletion	NM_000527.5(LDLR):c.41del (p.Leu14fs)	LDLR	Pathogenic	19	11200264	11200264	CT	C	criteria provided, single submitter	ClinGen:CA10584729,LDLR-LOVD, British Heart Foundation:LDLR_000011
Duplication	NM_000527.5(LDLR):c.41dup (p.Leu14fs)	LDLR	Pathogenic	19	11200265	11200265	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584730,LDLR-LOVD, British Heart Foundation:LDLR_001132
single nucleotide variant	NM_000527.5(LDLR):c.41T>A (p.Leu14Ter)	LDLR	Pathogenic	19	11200265	11200265	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR	Likely pathogenic	19	11200268	11200268	T	C	reviewed by expert panel	ClinGen:CA10584732,LDLR-LOVD, British Heart Foundation:LDLR_001011