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.1988-2A>G	LDLR	Pathogenic/Likely pathogenic	19	11231044	11231044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602342
single nucleotide variant	NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu)	LDLR	Likely pathogenic	19	11231114	11231114	C	G	criteria provided, single submitter	ClinGen:CA16602343
Duplication	NM_000527.5(LDLR):c.2068dup (p.His690fs)	LDLR	Pathogenic	19	11231121	11231122	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602344
Duplication	NM_000527.5(LDLR):c.2078dup (p.Phe694fs)	LDLR	Pathogenic	19	11231134	11231135	C	CA	criteria provided, single submitter	ClinGen:CA16602345
Deletion	NM_000527.5(LDLR):c.2085del (p.Cys696fs)	LDLR	Pathogenic	19	11231142	11231142	AC	A	criteria provided, single submitter	ClinGen:CA16602346
Duplication	NM_000527.5(LDLR):c.2134dup (p.Leu712fs)	LDLR	Pathogenic	19	11231190	11231191	G	GC	criteria provided, single submitter	ClinGen:CA16602348
Deletion	NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)	LDLR	Pathogenic	19	11234002	11234009	AGTGACAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602350
Duplication	NM_000527.5(LDLR):c.2482dup (p.Tyr828fs)	LDLR	Pathogenic	19	11240280	11240281	C	CT	criteria provided, single submitter	ClinGen:CA16602354
single nucleotide variant	NM_000527.5(LDLR):c.383G>C (p.Cys128Ser)	LDLR	Likely pathogenic	19	11215965	11215965	G	C	criteria provided, single submitter	ClinGen:CA16609803
single nucleotide variant	NM_000527.5(LDLR):c.529T>C (p.Ser177Pro)	LDLR	Likely pathogenic	19	11216111	11216111	T	C	criteria provided, single submitter	ClinGen:CA16609805