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_000384.3(APOB):c.1830-1G>A	APOB	Pathogenic	2	21250938	21250938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346013946
Deletion	NC_000019.10:g.(?_11100203)_(11102806_?)del	LDLR	Pathogenic	19	11210879	11213482	na	na	criteria provided, single submitter	-
Duplication	NC_000019.9:g.(?_11215876)_(11222335_?)dup	LDLR	Likely pathogenic	19	11215876	11222335	na	na	criteria provided, single submitter	-
Duplication	NC_000019.9:g.(?_11210879)_(11222335_?)dup	LDLR	Pathogenic	19	11210879	11222335	na	na	criteria provided, single submitter	-
Indel	NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs)	LDLR	Pathogenic	19	11227640	11227640	G	CT	criteria provided, single submitter	ClinGen:CA658658768
single nucleotide variant	NM_000384.3(APOB):c.9176G>A (p.Arg3059His)	APOB	Pathogenic	2	21230564	21230564	C	T	criteria provided, single submitter	ClinGen:CA066340
single nucleotide variant	NM_000163.5(GHR):c.945G>A (p.Lys315=)	GHR	Pathogenic	5	42718223	42718223	G	A	criteria provided, single submitter	ClinGen:CA443805565
single nucleotide variant	NM_000527.5(LDLR):c.1186+2T>G	LDLR	Likely pathogenic	19	11222317	11222317	T	G	criteria provided, single submitter	ClinGen:CA032579
Duplication	NM_000527.5(LDLR):c.1867dup (p.Ile623fs)	LDLR	Pathogenic/Likely pathogenic	19	11230788	11230789	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684220
Deletion	NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)	LDLR	Pathogenic/Likely pathogenic	19	11233942	11234000	ACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799127