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_000527.5(LDLR):c.912C>G (p.Asp304Glu)	LDLR	Likely pathogenic	19	11218162	11218162	C	G	reviewed by expert panel	UniProtKB:P01130#VAR_005356,ClinGen:CA10576290,LDLR-LOVD, British Heart Foundation:LDLR_001862
single nucleotide variant	NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	LDLR	Pathogenic/Likely pathogenic	19	11218167	11218167	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576291,LDLR-LOVD, British Heart Foundation:LDLR_000134,UniProtKB:P01130#VAR_005357
single nucleotide variant	NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11218188	11218188	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576292,LDLR-LOVD, British Heart Foundation:LDLR_001871,UniProtKB:P01130#VAR_005358
Indel	NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11218188	11218189	GC	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576293,LDLR-LOVD, British Heart Foundation:LDLR_000313
single nucleotide variant	NM_000527.5(LDLR):c.940+2T>C	LDLR	Pathogenic/Likely pathogenic	19	11218192	11218192	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576294,LDLR-LOVD, British Heart Foundation:LDLR_001878
single nucleotide variant	NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)	LDLR	Pathogenic	19	11221420	11221420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576295,LDLR-LOVD, British Heart Foundation:LDLR_001332
single nucleotide variant	NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)	LDLR	Pathogenic	19	11221435	11221435	C	T	reviewed by expert panel	ClinGen:CA031387,LDLR-LOVD, British Heart Foundation:LDLR_000147
single nucleotide variant	NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)	LDLR	Likely pathogenic	19	11221436	11221436	G	C	reviewed by expert panel	ClinGen:CA10576296,LDLR-LOVD, British Heart Foundation:LDLR_001337,UniProtKB:P01130#VAR_005368
single nucleotide variant	NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11222202	11222202	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576298,LDLR-LOVD, British Heart Foundation:LDLR_000402,UniProtKB:P01130#VAR_062377
Duplication	NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	LDLR	Pathogenic/Likely pathogenic	19	11222247	11222250	A	AGGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576299,LDLR-LOVD, British Heart Foundation:LDLR_000161,OMIM:606945.0020