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.1130del (p.Cys377fs)	LDLR	Pathogenic	19	11222259	11222259	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373247
single nucleotide variant	NM_000527.5(LDLR):c.1359-25A>G	LDLR	Pathogenic	19	11224186	11224186	A	G	criteria provided, single submitter	ClinGen:CA645373230
single nucleotide variant	NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys)	LDLR	Likely pathogenic	19	11224264	11224264	G	A	criteria provided, single submitter	ClinGen:CA404085845
single nucleotide variant	NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu)	LDLR	Pathogenic	19	11224279	11224279	C	T	criteria provided, single submitter	ClinGen:CA404085964
Deletion	NM_000527.5(LDLR):c.1456del (p.Ser486fs)	LDLR	Pathogenic	19	11224308	11224308	CA	C	criteria provided, single submitter	ClinGen:CA645373231
Deletion	NM_000527.5(LDLR):c.1530del (p.Leu511fs)	LDLR	Pathogenic	19	11224382	11224382	CG	C	criteria provided, single submitter	ClinGen:CA645373233
Deletion	NM_000527.5(LDLR):c.1566del (p.Ile522fs)	LDLR	Pathogenic	19	11224418	11224418	TC	T	criteria provided, single submitter	ClinGen:CA645373234
single nucleotide variant	NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)	LDLR	Pathogenic/Likely pathogenic	19	11226861	11226861	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404089351
Indel	NM_000527.5(LDLR):c.1736_1737delinsT (p.Asp579fs)	LDLR	Pathogenic	19	11227565	11227566	AC	T	criteria provided, single submitter	ClinGen:CA645373241
Insertion	NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu)	LDLR	Pathogenic	19	11227566	11227567	C	CTTG	criteria provided, single submitter	ClinGen:CA645373242