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.681C>A (p.Asp227Glu)	LDLR	Pathogenic/Likely pathogenic	19	11216263	11216263	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609806
Deletion	NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)	LDLR	Pathogenic/Likely pathogenic	19	11216263	11216274	ACGAGGAAAACTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609807
single nucleotide variant	NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln)	LDLR	Likely pathogenic	19	11222306	11222306	A	C	criteria provided, single submitter	ClinGen:CA16609811
Duplication	NM_000527.5(LDLR):c.1187-10_1272dup	LDLR	Likely pathogenic	19	11223938	11223939	C	CTCCCCGGACCCCCAGGCTCCATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCA	criteria provided, single submitter	ClinGen:CA16609813
Deletion	NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs)	LDLR	Pathogenic	19	11223971	11223972	CTT	C	criteria provided, single submitter	ClinGen:CA16609814
single nucleotide variant	NM_000527.5(LDLR):c.1358+5G>T	LDLR	Pathogenic	19	11224130	11224130	G	T	criteria provided, single submitter	ClinGen:CA16609815
Deletion	NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs)	LDLR	Pathogenic	19	11226815	11226816	AAG	A	criteria provided, single submitter	ClinGen:CA16609817
single nucleotide variant	NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter)	LDLR	Pathogenic	19	11227570	11227570	A	T	criteria provided, single submitter	ClinGen:CA16609818
Duplication	NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)	LDLR	Pathogenic	19	11233887	11233888	C	CGTCAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609820
Duplication	NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs)	LDLR	Pathogenic	19	11233960	11233961	C	CGGCT	criteria provided, single submitter	ClinGen:CA16609821