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
Insertion	NM_000527.5(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys)	LDLR	Likely pathogenic	19	11216262	11216263	A	ACTCAGGGAAACCCGACTG	criteria provided, single submitter	ClinGen:CA658653705
Indel	NM_000527.5(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys)	LDLR	Likely pathogenic	19	11216264	11216264	G	TCAAGGAAACCCGACTGCA	criteria provided, single submitter	ClinGen:CA658653706
single nucleotide variant	NM_000527.5(LDLR):c.817+2T>G	LDLR	Pathogenic	19	11217365	11217365	T	G	criteria provided, single submitter	ClinGen:CA404080351
Duplication	NM_000527.5(LDLR):c.928dup (p.Ile310fs)	LDLR	Pathogenic	19	11218177	11218178	C	CA	criteria provided, single submitter	ClinGen:CA658653708
single nucleotide variant	NM_000527.5(LDLR):c.987C>A (p.Cys329Ter)	LDLR	Pathogenic	19	11221374	11221374	C	A	criteria provided, single submitter	ClinGen:CA404082682
single nucleotide variant	NM_000527.5(LDLR):c.987C>G (p.Cys329Trp)	LDLR	Likely pathogenic	19	11221374	11221374	C	G	criteria provided, single submitter	ClinGen:CA404082683
single nucleotide variant	NM_000527.5(LDLR):c.1013G>T (p.Cys338Phe)	LDLR	Likely pathogenic	19	11221400	11221400	G	T	criteria provided, single submitter	ClinGen:CA404082733
Duplication	NM_000527.5(LDLR):c.1046dup (p.Arg350fs)	LDLR	Pathogenic	19	11221432	11221433	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653711
single nucleotide variant	NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter)	LDLR	Pathogenic	19	11226779	11226779	C	G	criteria provided, single submitter	ClinGen:CA404088557
Deletion	NM_000527.5(LDLR):c.1705+1del	LDLR	Pathogenic	19	11226888	11226888	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585570,LDLR-LOVD, British Heart Foundation:LDLR_001496