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.191-1G>A	LDLR	Pathogenic/Likely pathogenic	19	11213339	11213339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584787,LDLR-LOVD, British Heart Foundation:LDLR_000760
Indel	NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs)	LDLR	Pathogenic	19	11213342	11213350	TCTGTCACC	GACTTCA	criteria provided, single submitter	ClinGen:CA10584789,LDLR-LOVD, British Heart Foundation:LDLR_001553
Insertion	NM_000527.5(LDLR):c.195_196insA (p.Val66fs)	LDLR	Pathogenic	19	11213344	11213345	T	TA	criteria provided, single submitter	ClinGen:CA10584790,LDLR-LOVD, British Heart Foundation:LDLR_001562
Insertion	NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)	LDLR	Pathogenic	19	11213344	11213345	C	CTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584791,LDLR-LOVD, British Heart Foundation:LDLR_000634
Duplication	NM_000527.5(LDLR):c.195dup (p.Val66fs)	LDLR	Pathogenic	19	11213344	11213344	C	CT	criteria provided, single submitter	ClinGen:CA10584792,LDLR-LOVD, British Heart Foundation:LDLR_001563
Duplication	NM_000527.5(LDLR):c.199dup (p.Thr67fs)	LDLR	Pathogenic	19	11213348	11213348	C	CA	criteria provided, single submitter	ClinGen:CA10584793,LDLR-LOVD, British Heart Foundation:LDLR_001577
single nucleotide variant	NM_000527.5(LDLR):c.204C>A (p.Cys68Ter)	LDLR	Pathogenic	19	11213353	11213353	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584794,LDLR-LOVD, British Heart Foundation:LDLR_000681
Deletion	NM_000527.5(LDLR):c.214del (p.Asp72fs)	LDLR	Pathogenic	19	11213360	11213360	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9204947,LDLR-LOVD, British Heart Foundation:LDLR_001604
single nucleotide variant	NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)	LDLR	Pathogenic/Likely pathogenic	19	11213372	11213372	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584795,LDLR-LOVD, British Heart Foundation:LDLR_000684
single nucleotide variant	NM_000527.5(LDLR):c.225T>G (p.Cys75Trp)	LDLR	Likely pathogenic	19	11213374	11213374	T	G	criteria provided, single submitter	ClinGen:CA10584796,LDLR-LOVD, British Heart Foundation:LDLR_000683