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.1199_1207del (p.Tyr400_Phe402del)	LDLR	Likely pathogenic	19	11223966	11223974	CCTACCTCTT	C	reviewed by expert panel	ClinGen:CA10585351,LDLR-LOVD, British Heart Foundation:LDLR_001375
single nucleotide variant	NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)	LDLR	Pathogenic	19	11223967	11223967	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585352,LDLR-LOVD, British Heart Foundation:LDLR_000840
Duplication	NM_000527.5(LDLR):c.1205dup (p.Phe403fs)	LDLR	Pathogenic	19	11223972	11223972	C	CT	criteria provided, single submitter	ClinGen:CA10585353,LDLR-LOVD, British Heart Foundation:LDLR_000841
Deletion	NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs)	LDLR	Pathogenic/Likely pathogenic	19	11223973	11223974	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585354,LDLR-LOVD, British Heart Foundation:LDLR_000758
Deletion	NM_000527.5(LDLR):c.1208del (p.Phe403fs)	LDLR	Pathogenic	19	11223974	11223974	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585357,LDLR-LOVD, British Heart Foundation:LDLR_000842
Deletion	NM_000527.5(LDLR):c.1209del (p.Phe403fs)	LDLR	Pathogenic	19	11223976	11223976	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585358,LDLR-LOVD, British Heart Foundation:LDLR_001259
single nucleotide variant	NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)	LDLR	Pathogenic/Likely pathogenic	19	11223978	11223978	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585360,LDLR-LOVD, British Heart Foundation:LDLR_000176
single nucleotide variant	NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)	LDLR	Pathogenic/Likely pathogenic	19	11223982	11223982	C	G	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000537,ClinGen:CA10585362
single nucleotide variant	NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)	LDLR	Likely pathogenic	19	11223990	11223990	A	T	reviewed by expert panel	ClinGen:CA10585364,LDLR-LOVD, British Heart Foundation:LDLR_000668
single nucleotide variant	NM_000527.5(LDLR):c.1230G>T (p.Arg410Ser)	LDLR	Likely pathogenic	19	11223997	11223997	G	T	criteria provided, single submitter	ClinGen:CA10585366,LDLR-LOVD, British Heart Foundation:LDLR_001381