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.1673_1676del (p.Glu558fs)	LDLR	Pathogenic	19	11226856	11226859	GAAAA	G	criteria provided, single submitter	ClinGen:CA645373257
single nucleotide variant	NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter)	LDLR	Pathogenic	19	11227633	11227633	G	T	criteria provided, single submitter	ClinGen:CA404089812
Insertion	NM_000527.5(LDLR):c.1885_1886insA (p.Phe629fs)	LDLR	Pathogenic	19	11230807	11230808	T	TA	criteria provided, single submitter	ClinGen:CA645373238
single nucleotide variant	NM_000527.5(LDLR):c.2141-2A>G	LDLR	Pathogenic	19	11233848	11233848	A	G	criteria provided, single submitter	ClinGen:CA404094723
Deletion	NM_000527.5(LDLR):c.2376del (p.Ile792fs)	LDLR	Pathogenic	19	11238747	11238747	AT	A	criteria provided, single submitter	ClinGen:CA645372643
single nucleotide variant	NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter)	LDLR	Pathogenic	19	11224392	11224392	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404086546
Deletion	NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs)	APOB	Likely pathogenic	2	21227523	21227524	ATC	A	criteria provided, single submitter	ClinGen:CA645372503
Deletion	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB	Pathogenic/Likely pathogenic	2	21229502	21229502	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA042812
single nucleotide variant	NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)	PCSK9	Pathogenic/Likely pathogenic	1	55509694	55509694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340483865
single nucleotide variant	NM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile)	PCSK9	Likely pathogenic	1	55523068	55523068	A	T	criteria provided, single submitter	ClinGen:CA340476503