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
Duplication	NM_000527.5(LDLR):c.1808dup (p.Arg604fs)	LDLR	Pathogenic/Likely pathogenic	19	11227633	11227634	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799141
Deletion	NM_000527.4(LDLR):c.68-?_1586+?del	LDLR	Pathogenic	19	11200292	11226769	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)	LDLR	Likely pathogenic	19	11216010	11216010	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404076416
single nucleotide variant	NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)	LDLR	Pathogenic/Likely pathogenic	19	11216266	11216266	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404079085
single nucleotide variant	NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)	LDLR	Pathogenic/Likely pathogenic	19	11218170	11218170	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404081052
single nucleotide variant	NM_000527.5(LDLR):c.954C>A (p.Cys318Ter)	LDLR	Pathogenic	19	11221341	11221341	C	A	criteria provided, single submitter	ClinGen:CA404082618
Duplication	NM_000527.5(LDLR):c.1461dup (p.Ile488fs)	LDLR	Pathogenic	19	11224312	11224313	A	AC	criteria provided, single submitter	ClinGen:CA658799138
Insertion	NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs)	LDLR	Pathogenic	19	11224314	11224315	A	AC	criteria provided, single submitter	ClinGen:CA658799139
Deletion	NM_000384.3(APOB):c.7851del (p.Phe2617fs)	APOB	Likely pathogenic	2	21231889	21231889	TA	T	criteria provided, single submitter	ClinGen:CA531312743
single nucleotide variant	NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)	LDLR	Pathogenic/Likely pathogenic	19	11226842	11226842	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404089214