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_015627.3(LDLRAP1):c.459+2T>G	LDLRAP1	Likely pathogenic	1	25883760	25883760	T	G	criteria provided, single submitter	ClinGen:CA339078818,OMIM:605747.0008
single nucleotide variant	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Pathogenic	1	25880412	25880412	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA695429,OMIM:605747.0007
single nucleotide variant	NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	LDLRAP1	Pathogenic	1	25883705	25883705	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117070,OMIM:605747.0003
single nucleotide variant	NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1	Pathogenic	1	25870254	25870254	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117067,OMIM:605747.0001
Deletion	NM_000527.5(LDLR):c.2370_2389+20del	LDLR	Likely pathogenic	19	11238742	11238781	TGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1987+2T>G	LDLR	Pathogenic/Likely pathogenic	19	11230911	11230911	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000019.10:g.(?_11116849)_(11120608_?)del	LDLR	Pathogenic	19	11227525	11231284	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11105210)_(11107528_?)del	LDLR	Pathogenic	19	11215886	11218204	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_11100213)_(11107528_?)del	LDLR	Pathogenic	19	11210889	11218204	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000527.5(LDLR):c.1987+2T>A	LDLR	Pathogenic	19	11230911	11230911	T	A	criteria provided, single submitter	-