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_000527.4(LDLR):c.1988-?_2140+?del	LDLR	Pathogenic	19	11120302	11120522	na	na	criteria provided, single submitter	-
Deletion	NR_163945.1(LDLR-AS1):n.295_297del	LDLR	Likely pathogenic	19	11200039	11200041	CTCT	C	criteria provided, single submitter	ClinGen:CA10584695,LDLR-LOVD, British Heart Foundation:LDLR_000103
single nucleotide variant	NM_000527.4(LDLR):c.-168A>G	LDLR	Likely pathogenic	19	11200057	11200057	A	G	criteria provided, single submitter	ClinGen:CA16602286
Deletion	NM_000527.4(LDLR):c.-155_-150del	LDLR	Likely pathogenic	19	11200070	11200075	CACCCCA	C	criteria provided, single submitter	ClinGen:CA16602287
single nucleotide variant	NM_000527.4(LDLR):c.-149C>A	LDLR	Likely pathogenic	19	11200076	11200076	C	A	reviewed by expert panel	ClinGen:CA10584700,LDLR-LOVD, British Heart Foundation:LDLR_001264
single nucleotide variant	NM_000527.4(LDLR):c.-136C>T	LDLR	Pathogenic/Likely pathogenic	19	11200089	11200089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584709,LDLR-LOVD, British Heart Foundation:LDLR_001261
single nucleotide variant	NM_000527.4(LDLR):c.-135C>G	LDLR	Pathogenic/Likely pathogenic	19	11200090	11200090	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584710,LDLR-LOVD, British Heart Foundation:LDLR_000003
Duplication	NM_000527.4(LDLR):c.-124dup	LDLR	Likely pathogenic	19	11200098	11200099	G	GA	criteria provided, single submitter	ClinGen:CA16602288
single nucleotide variant	NM_000527.4(LDLR):c.-99A>G	LDLR	Likely pathogenic	19	11200126	11200126	A	G	criteria provided, single submitter	ClinGen:CA16602289
Deletion	NM_000527.4(LDLR):c.-229_-90del	LDLR	Pathogenic	19	11199995	11200134	ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC	A	criteria provided, single submitter	ClinGen:CA645373259