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.1124A>C (p.Tyr375Ser)	LDLR	Likely pathogenic	19	11222253	11222253	A	C	criteria provided, single submitter	ClinGen:CA10585317,LDLR-LOVD, British Heart Foundation:LDLR_001361
single nucleotide variant	NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)	LDLR	Pathogenic/Likely pathogenic	19	11222253	11222253	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585318,LDLR-LOVD, British Heart Foundation:LDLR_000528
single nucleotide variant	NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly)	LDLR	Likely pathogenic	19	11222258	11222258	T	G	criteria provided, single submitter	ClinGen:CA10585319,LDLR-LOVD, British Heart Foundation:LDLR_001362
single nucleotide variant	NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11222259	11222259	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585320,LDLR-LOVD, British Heart Foundation:LDLR_000529
single nucleotide variant	NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser)	LDLR	Pathogenic/Likely pathogenic	19	11222259	11222259	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585321,LDLR-LOVD, British Heart Foundation:LDLR_001363
single nucleotide variant	NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)	LDLR	Pathogenic	19	11222261	11222261	C	T	criteria provided, single submitter	ClinGen:CA10585322,LDLR-LOVD, British Heart Foundation:LDLR_000727
Deletion	NM_000527.5(LDLR):c.1135_1186+14del	LDLR	Pathogenic	19	11222262	11222327	CAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGA	C	criteria provided, single submitter	ClinGen:CA10585323,LDLR-LOVD, British Heart Foundation:LDLR_001364
single nucleotide variant	NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	LDLR	Pathogenic/Likely pathogenic	19	11222264	11222264	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585324,LDLR-LOVD, British Heart Foundation:LDLR_001365,UniProtKB:P01130#VAR_005375
single nucleotide variant	NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11222265	11222265	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585325,LDLR-LOVD, British Heart Foundation:LDLR_000364,UniProtKB:P01130#VAR_007986
single nucleotide variant	NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)	LDLR	Pathogenic	19	11222279	11222279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585327,LDLR-LOVD, British Heart Foundation:LDLR_000440