家族性高コレステロール血症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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	Single allele	LDLR	Likely pathogenic	19	11188452	11204306	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)	LDLR	Likely pathogenic	19	11227603	11227603	G	A	reviewed by expert panel	ClinGen:CA036598
Deletion	NM_000384.3(APOB):c.2988_2994del (p.Gly997fs)	APOB	Likely pathogenic	2	21242600	21242606	TGTCCCCG	T	criteria provided, single submitter	ClinGen:CA16043653
single nucleotide variant	NM_000527.4(LDLR):c.-168A>G	LDLR	Likely pathogenic	19	11200057	11200057	A	G	criteria provided, single submitter	ClinGen:CA16602286
Deletion	NM_000527.4(LDLR):c.-155_-150del	LDLR	Likely pathogenic	19	11200070	11200075	CACCCCA	C	criteria provided, single submitter	ClinGen:CA16602287
Duplication	NM_000527.4(LDLR):c.-124dup	LDLR	Likely pathogenic	19	11200098	11200099	G	GA	criteria provided, single submitter	ClinGen:CA16602288
single nucleotide variant	NM_000527.4(LDLR):c.-99A>G	LDLR	Likely pathogenic	19	11200126	11200126	A	G	criteria provided, single submitter	ClinGen:CA16602289
single nucleotide variant	NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter)	LDLR	Pathogenic	19	11210957	11210957	C	G	criteria provided, single submitter	ClinGen:CA16602291
single nucleotide variant	NM_000527.5(LDLR):c.191T>A (p.Leu64Ter)	LDLR	Pathogenic	19	11213340	11213340	T	A	criteria provided, single submitter	ClinGen:CA16602293
Duplication	NM_000527.5(LDLR):c.244_250dup (p.Pro84fs)	LDLR	Pathogenic	19	11213391	11213392	G	GCTGCATT	criteria provided, single submitter	ClinGen:CA16602295