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.1118G>C (p.Gly373Ala)	LDLR	Likely pathogenic	19	11222247	11222247	G	C	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11102644)_(11107534_?)del	LDLR	Pathogenic	19	11213320	11218210	na	na	criteria provided, single submitter	-
Duplication	NC_000019.9:g.(?_11223934)_(11227694_?)dup	LDLR	Pathogenic	19	11223934	11227694	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11113272)_(11120528_?)del	LDLR	Pathogenic	19	11223948	11231204	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11116074)_(11131359_?)del	LDLR	Pathogenic	19	11226750	11242035	na	na	criteria provided, single submitter	-
Indel	NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs)	LDLR	Pathogenic	19	11221383	11221396	TAAGATCGGCTACG	GCA	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu)	LDLR	Pathogenic	19	11223976	11223976	C	A	criteria provided, single submitter	-
Duplication	NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs)	LDLR	Pathogenic	19	11226777	11226778	T	TAC	criteria provided, single submitter	-
Deletion	NM_000527.5(LDLR):c.1851del (p.Val618fs)	LDLR	Pathogenic	19	11230771	11230771	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000527.5(LDLR):c.694+1G>C	LDLR	Pathogenic	19	11216277	11216277	G	C	criteria provided, multiple submitters, no conflicts	-