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	c.(?_-187)_(1060+1_1061-1)del	LDLR	Pathogenic	19	11200038	11222189	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001271
Deletion	c.(?_-187)_(940+1_941-1)del	LDLR	Pathogenic	19	11200038	11221327	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_001274
Deletion	c.(?_-187)_(67+1_68-1)del	LDLR	Pathogenic	19	11200038	11210898	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000007
Duplication	c.(?_-187)_(67+1_68-1)dup	LDLR	Likely pathogenic	19	11200038	11210898	na	na	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001273
Deletion	NM_000527.4(LDLR):c.-229_-90del	LDLR	Pathogenic	19	11199995	11200134	ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC	A	criteria provided, single submitter	ClinGen:CA645373259
Deletion	NM_000527.4(LDLR):c.-1823_190+566del	LDLR	Pathogenic	19	11198402	11211587	na	na	criteria provided, multiple submitters, no conflicts	LDLR-LOVD, British Heart Foundation:LDLR_000005
Deletion	Single allele	LDLR	Likely pathogenic	19	11188452	11204306	na	na	criteria provided, single submitter	-
Deletion	NM_000527.4(LDLR):c.1988-?_2140+?del	LDLR	Pathogenic	19	11120302	11120522	na	na	criteria provided, single submitter	-