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
Deletion	NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del)	LDLR	Pathogenic	19	11238694	11238723	ACGTTGCTGGCAGAGGAAATGAGAAGAAGCC	A	criteria provided, single submitter	ClinGen:CA645372641
Deletion	NM_000527.5(LDLR):c.2393_2409del (p.Leu798fs)	LDLR	Pathogenic	19	11240189	11240205	GTGCTCCTCGTCTTCCTT	G	criteria provided, single submitter	ClinGen:CA645373240
single nucleotide variant	NM_000527.5(LDLR):c.2422C>G (p.Leu808Val)	LDLR	Pathogenic	19	11240221	11240221	C	G	criteria provided, single submitter	ClinGen:CA404098598
Insertion	NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)	PCSK9	Pathogenic	1	55505552	55505553	A	ATG	criteria provided, single submitter	ClinGen:CA645372371
single nucleotide variant	NM_000384.3(APOB):c.11789-2A>C	APOB	Pathogenic	2	21227549	21227549	T	G	criteria provided, single submitter	ClinGen:CA345976985
single nucleotide variant	NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)	APOB	Pathogenic	2	21235089	21235089	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA43507989
Deletion	NM_000384.3(APOB):c.4590del (p.Asn1531fs)	APOB	Pathogenic	2	21235150	21235150	TG	T	criteria provided, single submitter	ClinGen:CA645372504
Deletion	NM_000384.3(APOB):c.3012del (p.Glu1004fs)	APOB	Pathogenic	2	21241973	21241973	GT	G	criteria provided, single submitter	ClinGen:CA645372356
Deletion	NM_000384.3(APOB):c.39del (p.Leu14fs)	APOB	Pathogenic	2	21266779	21266779	GC	G	criteria provided, single submitter	ClinGen:CA645372357
Deletion	NM_000527.4(LDLR):c.2141-?_2389+?del	LDLR	Pathogenic	19	11233850	11239475	na	na	criteria provided, single submitter	-