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.1946del (p.Pro649fs)	LDLR	Pathogenic	19	11230865	11230865	TC	T	criteria provided, single submitter	ClinGen:CA10585690,LDLR-LOVD, British Heart Foundation:LDLR_000971
Duplication	NM_000527.5(LDLR):c.1946dup (p.Glu650fs)	LDLR	Pathogenic	19	11230868	11230868	T	TC	criteria provided, single submitter	ClinGen:CA10585691,LDLR-LOVD, British Heart Foundation:LDLR_001559
Duplication	NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs)	LDLR	Pathogenic	19	11230870	11230874	C	CAGAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585692,LDLR-LOVD, British Heart Foundation:LDLR_001561
single nucleotide variant	NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr)	LDLR	Likely pathogenic	19	11230873	11230873	G	T	reviewed by expert panel	ClinGen:CA10585693,LDLR-LOVD, British Heart Foundation:LDLR_000749
Duplication	NM_000527.5(LDLR):c.1961_1965dup (p.His656fs)	LDLR	Pathogenic	19	11230883	11230887	G	GTTCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585698,LDLR-LOVD, British Heart Foundation:LDLR_001568
Deletion	NM_000527.5(LDLR):c.1964del (p.Phe655fs)	LDLR	Pathogenic	19	11230885	11230885	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585699,LDLR-LOVD, British Heart Foundation:LDLR_000665
single nucleotide variant	NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)	LDLR	Likely pathogenic	19	11230887	11230887	C	G	reviewed by expert panel	ClinGen:CA10585700,LDLR-LOVD, British Heart Foundation:LDLR_000419
single nucleotide variant	NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro)	LDLR	Likely pathogenic	19	11230895	11230895	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585702,LDLR-LOVD, British Heart Foundation:LDLR_001569
Deletion	NM_000527.5(LDLR):c.1975_1987+16del	LDLR	Pathogenic	19	11230897	11230925	TCACCCAGCCAAGAGGTAAGGGTGGGTCAG	T	criteria provided, single submitter	ClinGen:CA10585703,LDLR-LOVD, British Heart Foundation:LDLR_001570
single nucleotide variant	NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys)	LDLR	Likely pathogenic	19	11230900	11230900	C	A	criteria provided, single submitter	ClinGen:CA10585705,LDLR-LOVD, British Heart Foundation:LDLR_001574