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.1054T>C (p.Cys352Arg)	LDLR	Likely pathogenic	19	11221441	11221441	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585268,LDLR-LOVD, British Heart Foundation:LDLR_000676,UniProtKB:P01130#VAR_072843
Deletion	NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs)	LDLR	Pathogenic	19	11221441	11222193	ATGCGAAGGTGATTTCCGGGTGGGACTGAGCCCTGGGCCCCCTCTGCGCTTCCTGACATGGCAACCAAACCCCTCATGCCTCAGTTTCCCCATCTGTTAAGTGTGCTTGAAAGCAGTTAGGAGGGTTTCATGAGATTCCACCTGCATGGAAAACTATCATTGGCTGGCCAGAGTTTCTTGCCTCTGGGGATTAGTAATTAAGAAATTTCAGGCCGGGTGCGTAATCCCTGTAATCCCAACACCTTGGGACGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCCAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCTTGGTGGTGCATGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATAT	A	criteria provided, single submitter	ClinGen:CA404082893,LDLR-LOVD, British Heart Foundation:LDLR_000838
single nucleotide variant	NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)	LDLR	Pathogenic/Likely pathogenic	19	11221442	11221442	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585269,LDLR-LOVD, British Heart Foundation:LDLR_001340
single nucleotide variant	NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)	LDLR	Pathogenic/Likely pathogenic	19	11221443	11221443	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585270,LDLR-LOVD, British Heart Foundation:LDLR_000350
single nucleotide variant	NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)	LDLR	Pathogenic/Likely pathogenic	19	11221443	11221443	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585271,LDLR-LOVD, British Heart Foundation:LDLR_001341
Deletion	NM_000527.5(LDLR):c.1056_1060+3del	LDLR	Pathogenic	19	11221443	11221450	ATGCGAAGG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585272,LDLR-LOVD, British Heart Foundation:LDLR_000666
single nucleotide variant	NM_000527.5(LDLR):c.1060+1G>A	LDLR	Pathogenic	19	11221448	11221448	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585273,LDLR-LOVD, British Heart Foundation:LDLR_000151
single nucleotide variant	NM_000527.5(LDLR):c.1060+1G>T	LDLR	Likely pathogenic	19	11221448	11221448	G	T	criteria provided, single submitter	ClinGen:CA10585274,LDLR-LOVD, British Heart Foundation:LDLR_001342
single nucleotide variant	NM_000527.5(LDLR):c.1061-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11222188	11222188	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585278,LDLR-LOVD, British Heart Foundation:LDLR_001009
single nucleotide variant	NM_000527.5(LDLR):c.1061-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11222189	11222189	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585279,LDLR-LOVD, British Heart Foundation:LDLR_000514