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.1744_1745insA (p.Leu582fs)	LDLR	Pathogenic	19	11227573	11227574	C	CA	criteria provided, single submitter	ClinGen:CA645373243
Duplication	NM_000527.5(LDLR):c.1829_1840dup (p.Ser610_Val613dup)	LDLR	Pathogenic	19	11227654	11227655	T	TTCTCCTTGGCCG	criteria provided, single submitter	ClinGen:CA645373244
Deletion	NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs)	LDLR	Pathogenic	19	11230768	11230787	GGACAAAGTATTTTGGACAGA	G	criteria provided, single submitter	ClinGen:CA645373237
single nucleotide variant	NM_000527.5(LDLR):c.1979A>C (p.Gln660Pro)	LDLR	Likely pathogenic	19	11230901	11230901	A	C	criteria provided, single submitter	ClinGen:CA404093316,ClinVar:430800
single nucleotide variant	NM_000527.5(LDLR):c.1988G>C (p.Gly663Ala)	LDLR	Pathogenic	19	11231046	11231046	G	C	criteria provided, single submitter	ClinGen:CA404093399
single nucleotide variant	NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe)	LDLR	Pathogenic	19	11231102	11231102	C	T	criteria provided, single submitter	ClinGen:CA404093636
Deletion	NM_000527.5(LDLR):c.2061del (p.Asn688fs)	LDLR	Pathogenic	19	11231119	11231119	TC	T	criteria provided, single submitter	ClinGen:CA645373258
single nucleotide variant	NM_000527.5(LDLR):c.2079G>A (p.Lys693=)	LDLR	Likely pathogenic	19	11231137	11231137	G	A	criteria provided, single submitter	ClinGen:CA038481
single nucleotide variant	NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter)	LDLR	Pathogenic	19	11233939	11233939	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA305305141
Deletion	NM_000527.5(LDLR):c.2270del (p.Pro757fs)	LDLR	Pathogenic	19	11233976	11233976	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373246