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
Duplication	NM_000527.5(LDLR):c.670dup (p.Asp224fs)	LDLR	Pathogenic	19	11216252	11216252	A	AG	criteria provided, single submitter	ClinGen:CA10585062,LDLR-LOVD, British Heart Foundation:LDLR_000913
single nucleotide variant	NM_000527.5(LDLR):c.671A>C (p.Asp224Ala)	LDLR	Likely pathogenic	19	11216253	11216253	A	C	criteria provided, single submitter	ClinGen:CA10585063,LDLR-LOVD, British Heart Foundation:LDLR_000600
single nucleotide variant	NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)	LDLR	Pathogenic/Likely pathogenic	19	11216253	11216253	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585064,LDLR-LOVD, British Heart Foundation:LDLR_001803,UniProtKB:P01130#VAR_005335
single nucleotide variant	NM_000527.5(LDLR):c.671A>T (p.Asp224Val)	LDLR	Pathogenic/Likely pathogenic	19	11216253	11216253	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585065,LDLR-LOVD, British Heart Foundation:LDLR_001804,UniProtKB:P01130#VAR_005336
Duplication	NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup)	LDLR	Likely pathogenic	19	11216254	11216265	G	GGACAAATCTGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585066,LDLR-LOVD, British Heart Foundation:LDLR_000829
Duplication	NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)	LDLR	Likely pathogenic	19	11216255	11216263	G	GGACAAATCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585067,LDLR-LOVD, British Heart Foundation:LDLR_001109
Indel	NM_000527.5(LDLR):c.673_682delinsTGCAA (p.Lys225fs)	LDLR	Pathogenic	19	11216255	11216264	AAATCTGACG	TGCAA	criteria provided, single submitter	ClinGen:CA10585068,LDLR-LOVD, British Heart Foundation:LDLR_000422
Duplication	NM_000527.5(LDLR):c.674_681dup (p.Glu228fs)	LDLR	Pathogenic	19	11216256	11216263	A	AAATCTGAC	criteria provided, single submitter	ClinGen:CA10585069,LDLR-LOVD, British Heart Foundation:LDLR_000497
Duplication	NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer)	LDLR	Pathogenic	19	11216257	11216263	A	AATCTGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585070,LDLR-LOVD, British Heart Foundation:LDLR_000498
Deletion	NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del)	LDLR	Likely pathogenic	19	11216257	11216271	CAAATCTGACGAGGAA	C	criteria provided, single submitter	ClinGen:CA10585071,LDLR-LOVD, British Heart Foundation:LDLR_000828