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.666_688del (p.Cys222_Asn230delinsTer)	LDLR	Pathogenic	19	11216248	11216270	GCAAGGACAAATCTGACGAGGAAA	G	criteria provided, single submitter	ClinGen:CA645373228
Indel	NM_000527.5(LDLR):c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu)	LDLR	Pathogenic	19	11216251	11216265	GGACAAATCTGACGA	AACTGCGGTAAACTGCGGTAAACT	criteria provided, single submitter	ClinGen:CA645373229
Indel	NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs)	LDLR	Pathogenic	19	11216262	11216264	ACG	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372639
single nucleotide variant	NM_000527.5(LDLR):c.829G>T (p.Glu277Ter)	LDLR	Pathogenic	19	11218079	11218079	G	T	criteria provided, single submitter	ClinGen:CA404080521
Deletion	NM_000527.5(LDLR):c.860del (p.Gly287fs)	LDLR	Pathogenic	19	11218109	11218109	CG	C	criteria provided, single submitter	ClinGen:CA645373254
Deletion	NM_000527.5(LDLR):c.882_883del (p.Lys294fs)	LDLR	Pathogenic	19	11218132	11218133	AAG	A	criteria provided, single submitter	ClinGen:CA645373255
single nucleotide variant	NM_000527.5(LDLR):c.905G>T (p.Cys302Phe)	LDLR	Pathogenic	19	11218155	11218155	G	T	criteria provided, single submitter	ClinGen:CA404081028
single nucleotide variant	NM_000527.5(LDLR):c.1057G>T (p.Glu353Ter)	LDLR	Pathogenic	19	11221444	11221444	G	T	criteria provided, single submitter	ClinGen:CA404082910
single nucleotide variant	NM_000527.5(LDLR):c.1081C>T (p.Pro361Ser)	LDLR	Pathogenic	19	11222210	11222210	C	T	criteria provided, single submitter	ClinGen:CA404083213
single nucleotide variant	NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter)	LDLR	Pathogenic	19	11222243	11222243	G	T	criteria provided, single submitter	ClinGen:CA404083474