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.675del (p.Lys225fs)	LDLR	Pathogenic	19	11216255	11216255	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585072,LDLR-LOVD, British Heart Foundation:LDLR_001183
single nucleotide variant	NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)	LDLR	Pathogenic/Likely pathogenic	19	11216258	11216258	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585073,LDLR-LOVD, British Heart Foundation:LDLR_001808,UniProtKB:P01130#VAR_005337
Duplication	NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup)	LDLR	Likely pathogenic	19	11216258	11216266	A	ATCTGACGAG	criteria provided, single submitter	ClinGen:CA10585074,LDLR-LOVD, British Heart Foundation:LDLR_001807
single nucleotide variant	NM_000527.5(LDLR):c.677C>G (p.Ser226Cys)	LDLR	Likely pathogenic	19	11216259	11216259	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585075,LDLR-LOVD, British Heart Foundation:LDLR_001809
single nucleotide variant	NM_000527.5(LDLR):c.680A>T (p.Asp227Val)	LDLR	Pathogenic/Likely pathogenic	19	11216262	11216262	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585076,LDLR-LOVD, British Heart Foundation:LDLR_001813
Insertion	NM_000527.4(LDLR):c.680_681ins(21)	LDLR	Likely pathogenic	19	11216262	11216263	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_000827
Indel	NM_000527.4(LDLR):c.680_682delACGins14 (p.?)	LDLR	Pathogenic	19	11216262	11216264	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000493
Insertion	NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter)	LDLR	Pathogenic	19	11216263	11216264	C	CTGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585077,LDLR-LOVD, British Heart Foundation:LDLR_001814
Deletion	NM_000527.5(LDLR):c.681_683del (p.Asp227del)	LDLR	Likely pathogenic	19	11216263	11216265	TGAC	T	criteria provided, single submitter	ClinGen:CA10585078,LDLR-LOVD, British Heart Foundation:LDLR_000431
single nucleotide variant	NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)	LDLR	Pathogenic/Likely pathogenic	19	11216264	11216264	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA044313,LDLR-LOVD, British Heart Foundation:LDLR_001817,UniProtKB:P01130#VAR_005340