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.378del (p.Phe126fs)	LDLR	Pathogenic	19	11215960	11215960	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509257
Duplication	NM_000527.5(LDLR):c.557dup (p.Leu187fs)	LDLR	Pathogenic	19	11216135	11216136	A	AG	criteria provided, single submitter	ClinGen:CA645509260
single nucleotide variant	NM_000527.5(LDLR):c.1028G>T (p.Gly343Val)	LDLR	Likely pathogenic	19	11221415	11221415	G	T	reviewed by expert panel	ClinGen:CA404082758
single nucleotide variant	NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)	LDLR	Likely pathogenic	19	11222196	11222196	A	T	reviewed by expert panel	ClinGen:CA404083112
Indel	NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)	LDLR	Pathogenic	19	11224265	11224266	AG	GGACAT	criteria provided, single submitter	ClinGen:CA645509280
single nucleotide variant	NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)	LDLR	Likely pathogenic	19	11224285	11224285	G	A	reviewed by expert panel	ClinGen:CA404085998
single nucleotide variant	NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr)	LDLR	Likely pathogenic	19	11224290	11224290	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404086031
Duplication	NM_000527.5(LDLR):c.2259dup (p.Gly754fs)	LDLR	Pathogenic	19	11233967	11233968	C	CT	criteria provided, single submitter	ClinGen:CA645509295
Deletion	NM_000527.5(LDLR):c.2274del (p.Leu759fs)	LDLR	Pathogenic	19	11233981	11233981	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509297
Deletion	NM_000527.5(LDLR):c.2500del (p.Asp834fs)	LDLR	Pathogenic	19	11240298	11240298	AG	A	criteria provided, single submitter	ClinGen:CA645509303