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_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR	Pathogenic	19	11217264	11217264	G	A	reviewed by expert panel	ClinGen:CA023755,LDLR-LOVD, British Heart Foundation:LDLR_001828,UniProtKB:P01130#VAR_005343
single nucleotide variant	NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	LDLR	Likely pathogenic	19	11231156	11231156	G	A	reviewed by expert panel	ClinGen:CA023633,LDLR-LOVD, British Heart Foundation:LDLR_001602
Deletion	NM_000384.3(APOB):c.13025del (p.Pro4342fs)	APOB	Likely pathogenic	2	21225269	21225269	TG	T	criteria provided, single submitter	ClinGen:CA210931
Deletion	NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)	LDLR	Pathogenic/Likely pathogenic	19	11224338	11224339	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351943,LDLR-LOVD, British Heart Foundation:LDLR_000800
single nucleotide variant	NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	LDLR	Pathogenic/Likely pathogenic	19	11226874	11226874	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA035639,LDLR-LOVD, British Heart Foundation:LDLR_000225,UniProtKB:P01130#VAR_005400
single nucleotide variant	NM_000527.5(LDLR):c.190+4A>T	LDLR	Likely pathogenic	19	11211025	11211025	A	T	reviewed by expert panel	ClinGen:CA042227,LDLR-LOVD, British Heart Foundation:LDLR_000028
Insertion	NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs)	LDLR	Likely pathogenic	19	11216242	11216243	C	CTG	criteria provided, single submitter	ClinGen:CA358877
single nucleotide variant	NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)	LDLR	Pathogenic/Likely pathogenic	19	11231198	11231198	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA358795,LDLR-LOVD, British Heart Foundation:LDLR_000876
Deletion	NM_000527.4(LDLR):c.1187-?_1586+?del	LDLR	Pathogenic	19	11223953	11224439	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000527.4(LDLR):c.1587-?_1845+?del	LDLR	Pathogenic	19	11226769	11227675	na	na	criteria provided, multiple submitters, no conflicts	-