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.1265T>C (p.Leu422Pro)	LDLR	Likely pathogenic	19	11224032	11224032	T	C	criteria provided, single submitter	ClinGen:CA10585380,LDLR-LOVD, British Heart Foundation:LDLR_000794
single nucleotide variant	NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)	LDLR	Pathogenic/Likely pathogenic	19	11224035	11224035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585381,LDLR-LOVD, British Heart Foundation:LDLR_001384,UniProtKB:P01130#VAR_005382,ClinVar:430765
Insertion	NC_000019.9:g.11224039_11224040ins(96)	LDLR	Likely pathogenic	19	11224039	11224040	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000680
single nucleotide variant	NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile)	LDLR	Likely pathogenic	19	11224041	11224041	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585382,LDLR-LOVD, British Heart Foundation:LDLR_000795
single nucleotide variant	NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)	LDLR	Likely pathogenic	19	11224052	11224052	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585386,LDLR-LOVD, British Heart Foundation:LDLR_000598
Deletion	NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer)	LDLR	Pathogenic	19	11224058	11224098	GTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC	G	criteria provided, single submitter	ClinGen:CA10585388,LDLR-LOVD, British Heart Foundation:LDLR_000915
single nucleotide variant	NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro)	LDLR	Likely pathogenic	19	11224062	11224062	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585389,LDLR-LOVD, British Heart Foundation:LDLR_001245
Deletion	NM_000527.5(LDLR):c.1296_1298del (p.Asp433del)	LDLR	Likely pathogenic	19	11224063	11224065	TGGA	T	criteria provided, single submitter	ClinGen:CA10585390,LDLR-LOVD, British Heart Foundation:LDLR_001389
single nucleotide variant	NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr)	LDLR	Likely pathogenic	19	11224064	11224064	G	T	criteria provided, single submitter	ClinGen:CA10585391,LDLR-LOVD, British Heart Foundation:LDLR_000475
single nucleotide variant	NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)	LDLR	Likely pathogenic	19	11224068	11224068	C	A	reviewed by expert panel	ClinGen:CA10585392,LDLR-LOVD, British Heart Foundation:LDLR_001392,UniProtKB:P01130#VAR_005386