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.1104C>A (p.Cys368Ter)	LDLR	Pathogenic	19	11222233	11222233	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585306,LDLR-LOVD, British Heart Foundation:LDLR_001359
single nucleotide variant	NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)	LDLR	Pathogenic/Likely pathogenic	19	11222238	11222238	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585307,LDLR-LOVD, British Heart Foundation:LDLR_000725,UniProtKB:P01130#VAR_062378
single nucleotide variant	NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys)	LDLR	Likely pathogenic	19	11222239	11222239	C	G	criteria provided, single submitter	ClinGen:CA10585308,LDLR-LOVD, British Heart Foundation:LDLR_000159
Insertion	NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs)	LDLR	Pathogenic	19	11222242	11222243	T	TGTGG	criteria provided, single submitter	ClinGen:CA10585309,LDLR-LOVD, British Heart Foundation:LDLR_001252
Indel	NM_000527.5(LDLR):c.1115_1123delinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn)	LDLR	Likely pathogenic	19	11222244	11222252	AGGGTGGCT	CACTGA	criteria provided, single submitter	ClinGen:CA10585310,LDLR-LOVD, British Heart Foundation:LDLR_001360
single nucleotide variant	NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys)	LDLR	Likely pathogenic	19	11222246	11222246	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585311,LDLR-LOVD, British Heart Foundation:LDLR_000160
single nucleotide variant	NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)	LDLR	Pathogenic/Likely pathogenic	19	11222247	11222247	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585312,LDLR-LOVD, British Heart Foundation:LDLR_000320,UniProtKB:P01130#VAR_072845
single nucleotide variant	NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)	LDLR	Likely pathogenic	19	11222247	11222247	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585313,LDLR-LOVD, British Heart Foundation:LDLR_001157
Duplication	NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)	LDLR	Pathogenic	19	11222249	11222252	G	GTGGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585315,LDLR-LOVD, British Heart Foundation:LDLR_000527
Insertion	NM_000527.5(LDLR):c.1123_1124insC (p.Tyr375fs)	LDLR	Pathogenic	19	11222252	11222253	T	TC	criteria provided, single submitter	ClinGen:CA10585316,LDLR-LOVD, British Heart Foundation:LDLR_000902