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.1358+3_1358+8del	LDLR	Likely pathogenic	19	11224128	11224133	GGTGAGC	G	criteria provided, single submitter	ClinGen:CA10585419,LDLR-LOVD, British Heart Foundation:LDLR_001404
single nucleotide variant	NM_000527.5(LDLR):c.1359-5C>G	LDLR	Likely pathogenic	19	11224206	11224206	C	G	reviewed by expert panel	ClinGen:CA10585422,LDLR-LOVD, British Heart Foundation:LDLR_000192
single nucleotide variant	NM_000527.5(LDLR):c.1359-1G>C	LDLR	Pathogenic/Likely pathogenic	19	11224210	11224210	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585424,LDLR-LOVD, British Heart Foundation:LDLR_001406
single nucleotide variant	NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn)	LDLR	Likely pathogenic	19	11224213	11224213	C	A	reviewed by expert panel	ClinGen:CA10585425,LDLR-LOVD, British Heart Foundation:LDLR_000844,UniProtKB:P01130#VAR_072849
single nucleotide variant	NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter)	LDLR	Pathogenic	19	11224215	11224215	C	T	criteria provided, single submitter	ClinGen:CA10585426,LDLR-LOVD, British Heart Foundation:LDLR_000856
Deletion	NM_000527.5(LDLR):c.1363del (p.Gln455fs)	LDLR	Pathogenic	19	11224213	11224213	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585427,LDLR-LOVD, British Heart Foundation:LDLR_001410
Deletion	NM_000527.5(LDLR):c.1365del (p.Gln455fs)	LDLR	Pathogenic	19	11224217	11224217	AG	A	criteria provided, single submitter	ClinGen:CA10585428,LDLR-LOVD, British Heart Foundation:LDLR_001411
single nucleotide variant	NM_000527.5(LDLR):c.1367T>A (p.Leu456His)	LDLR	Likely pathogenic	19	11224219	11224219	T	A	criteria provided, single submitter	ClinGen:CA10585429,LDLR-LOVD, British Heart Foundation:LDLR_000898
Deletion	NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs)	LDLR	Pathogenic	19	11224219	11224228	CAGCTTGACAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585430,LDLR-LOVD, British Heart Foundation:LDLR_001412
Deletion	NM_000527.5(LDLR):c.1377_1380del (p.His460fs)	LDLR	Pathogenic	19	11224229	11224232	GCCCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585433,LDLR-LOVD, British Heart Foundation:LDLR_001416