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_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_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_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	APOB	Pathogenic/Likely pathogenic	2	21229558	21229558	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345987169
Duplication	NM_000384.3(APOB):c.2786dup (p.Arg931fs)	APOB	Pathogenic	2	21245732	21245733	T	TG	criteria provided, single submitter	ClinGen:CA645509053
single nucleotide variant	NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr)	APOB	Likely pathogenic	2	21229554	21229554	C	T	criteria provided, single submitter	ClinGen:CA345987160
single nucleotide variant	NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter)	APOB	Pathogenic	2	21236159	21236159	G	T	criteria provided, single submitter	ClinGen:CA346007651
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