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.1315A>T (p.Asn439Tyr)	LDLR	Likely pathogenic	19	11224082	11224082	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602328
Deletion	NM_000527.5(LDLR):c.1330del (p.Ser444fs)	LDLR	Pathogenic	19	11224097	11224097	GT	G	criteria provided, single submitter	ClinGen:CA16602329
Deletion	NM_000527.5(LDLR):c.1478del (p.Ser493fs)	LDLR	Pathogenic	19	11224330	11224330	TC	T	criteria provided, single submitter	ClinGen:CA16602330
Deletion	NM_000527.5(LDLR):c.1529del (p.Thr510fs)	LDLR	Pathogenic	19	11224381	11224381	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602331
Deletion	NM_000527.5(LDLR):c.1571_1572del (p.Val524fs)	LDLR	Pathogenic	19	11224422	11224423	GGT	G	criteria provided, single submitter	ClinGen:CA16602332
single nucleotide variant	NM_000527.5(LDLR):c.1705G>A (p.Asp569Asn)	LDLR	Likely pathogenic	19	11226888	11226888	G	A	criteria provided, single submitter	ClinGen:CA16602334
single nucleotide variant	NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)	LDLR	Pathogenic/Likely pathogenic	19	11227559	11227559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602335
single nucleotide variant	NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro)	LDLR	Likely pathogenic	19	11227567	11227567	T	C	criteria provided, single submitter	ClinGen:CA16602336
Indel	NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs)	LDLR	Pathogenic	19	11227602	11227603	CG	T	criteria provided, single submitter	ClinGen:CA16602337
Deletion	NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs)	LDLR	Pathogenic	19	11230899	11230902	CCCAG	C	criteria provided, single submitter	ClinGen:CA16602340