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.314-2A>T	LDLR	Pathogenic	19	11215894	11215894	A	T	criteria provided, single submitter	ClinGen:CA16602296
single nucleotide variant	NM_000527.5(LDLR):c.327C>A (p.Cys109Ter)	LDLR	Pathogenic	19	11215909	11215909	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602297
single nucleotide variant	NM_000527.5(LDLR):c.377T>C (p.Phe126Ser)	LDLR	Pathogenic/Likely pathogenic	19	11215959	11215959	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602298
single nucleotide variant	NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11215965	11215965	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602299
Deletion	NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del)	LDLR	Likely pathogenic	19	11216023	11216085	CCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA	C	criteria provided, single submitter	ClinGen:CA16602300
single nucleotide variant	NM_000527.5(LDLR):c.503A>C (p.Asp168Ala)	LDLR	Likely pathogenic	19	11216085	11216085	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602301
single nucleotide variant	NM_000527.5(LDLR):c.610T>G (p.Cys204Gly)	LDLR	Likely pathogenic	19	11216192	11216192	T	G	criteria provided, single submitter	ClinGen:CA16602302
single nucleotide variant	NM_000527.5(LDLR):c.629T>C (p.Ile210Thr)	LDLR	Likely pathogenic	19	11216211	11216211	T	C	criteria provided, single submitter	ClinGen:CA16602303
Duplication	NM_000527.5(LDLR):c.660_666dup (p.Lys223fs)	LDLR	Likely pathogenic	19	11216240	11216241	C	CCCGACTG	criteria provided, single submitter	ClinGen:CA16602304
Deletion	NM_000527.5(LDLR):c.664_681del (p.Cys222_Asp227del)	LDLR	Likely pathogenic	19	11216243	11216260	CGACTGCAAGGACAAATCT	C	criteria provided, single submitter	ClinGen:CA16602305