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.230del (p.Gly77fs)	LDLR	Pathogenic/Likely pathogenic	19	11213375	11213375	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584798,LDLR-LOVD, British Heart Foundation:LDLR_000932
Duplication	NM_000527.5(LDLR):c.230dup (p.Arg78fs)	LDLR	Pathogenic	19	11213379	11213379	T	TG	criteria provided, single submitter	ClinGen:CA10584799,LDLR-LOVD, British Heart Foundation:LDLR_001108
Deletion	NM_000527.5(LDLR):c.232del (p.Arg78fs)	LDLR	Pathogenic	19	11213380	11213380	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584800,LDLR-LOVD, British Heart Foundation:LDLR_000819
Duplication	NM_000527.5(LDLR):c.236dup (p.Asn80fs)	LDLR	Pathogenic	19	11213385	11213385	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584801,LDLR-LOVD, British Heart Foundation:LDLR_001633
Duplication	NM_000527.5(LDLR):c.242dup (p.Cys82fs)	LDLR	Pathogenic	19	11213391	11213391	C	CG	criteria provided, single submitter	ClinGen:CA10584804,LDLR-LOVD, British Heart Foundation:LDLR_000992
single nucleotide variant	NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)	LDLR	Pathogenic/Likely pathogenic	19	11213393	11213393	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584805,LDLR-LOVD, British Heart Foundation:LDLR_001652
Deletion	NM_000527.5(LDLR):c.244del (p.Cys82fs)	LDLR	Pathogenic	19	11213393	11213393	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584806,LDLR-LOVD, British Heart Foundation:LDLR_001651
single nucleotide variant	NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11213394	11213394	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584807,LDLR-LOVD, British Heart Foundation:LDLR_001653
single nucleotide variant	NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)	LDLR	Pathogenic/Likely pathogenic	19	11213394	11213394	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584808,LDLR-LOVD, British Heart Foundation:LDLR_000933
single nucleotide variant	NM_000527.5(LDLR):c.260G>A (p.Trp87Ter)	LDLR	Pathogenic	19	11213409	11213409	G	A	criteria provided, single submitter	ClinGen:CA10584813,LDLR-LOVD, British Heart Foundation:LDLR_001672