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_000527.5(LDLR):c.9del (p.Trp4fs)	LDLR	Pathogenic	19	11200231	11200231	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584723,LDLR-LOVD, British Heart Foundation:LDLR_001899
single nucleotide variant	NM_000527.5(LDLR):c.3G>A (p.Met1Ile)	LDLR	Likely pathogenic	19	11200227	11200227	G	A	reviewed by expert panel	ClinGen:CA404071097
single nucleotide variant	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR	Likely pathogenic	19	11200227	11200227	G	T	reviewed by expert panel	ClinGen:CA10584721,LDLR-LOVD, British Heart Foundation:LDLR_000316
Deletion	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR	Pathogenic	19	11200227	11200227	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576266,LDLR-LOVD, British Heart Foundation:LDLR_001825
single nucleotide variant	NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	LDLR	Likely pathogenic	19	11200226	11200226	T	C	reviewed by expert panel	ClinGen:CA404071092
single nucleotide variant	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR	Pathogenic	19	11200225	11200225	A	T	reviewed by expert panel	ClinGen:CA10584720,LDLR-LOVD, British Heart Foundation:LDLR_000445
single nucleotide variant	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR	Likely pathogenic	19	11200225	11200225	A	G	reviewed by expert panel	ClinGen:CA10584719,LDLR-LOVD, British Heart Foundation:LDLR_000328
single nucleotide variant	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	LDLR	Pathogenic	19	11200225	11200225	A	C	reviewed by expert panel	ClinGen:CA10584718,LDLR-LOVD, British Heart Foundation:LDLR_000356
Deletion	NM_000527.4(LDLR):c.-229_-90del	LDLR	Pathogenic	19	11199995	11200134	ACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC	A	criteria provided, single submitter	ClinGen:CA645373259
single nucleotide variant	NM_000527.4(LDLR):c.-99A>G	LDLR	Likely pathogenic	19	11200126	11200126	A	G	criteria provided, single submitter	ClinGen:CA16602289