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.2000G>A (p.Cys667Tyr)	LDLR	Likely pathogenic	19	11231058	11231058	G	A	reviewed by expert panel	ClinGen:CA023621,LDLR-LOVD, British Heart Foundation:LDLR_000274,UniProtKB:P01130#VAR_005407,OMIM:606945.0015
single nucleotide variant	NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)	LDLR	Likely pathogenic	19	11240330	11240330	G	A	reviewed by expert panel	ClinGen:CA023681,LDLR-LOVD, British Heart Foundation:LDLR_001663,UniProtKB:P01130#VAR_005420,OMIM:606945.0052
single nucleotide variant	NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)	LDLR	Likely pathogenic	19	11210968	11210968	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023468,LDLR-LOVD, British Heart Foundation:LDLR_000449,UniProtKB:P01130#VAR_013949,OMIM:606945.0061
single nucleotide variant	NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)	LDLR	Likely pathogenic	19	11215908	11215908	G	C	criteria provided, single submitter	ClinGen:CA023694,LDLR-LOVD, British Heart Foundation:LDLR_001179,OMIM:606945.0062
single nucleotide variant	NM_000527.5(LDLR):c.1216C>A (p.Arg406=)	LDLR	Likely pathogenic	19	11223983	11223983	C	A	reviewed by expert panel	ClinGen:CA023436,LDLR-LOVD, British Heart Foundation:LDLR_000813,OMIM:606945.0065
single nucleotide variant	NM_015627.3(LDLRAP1):c.459+2T>G	LDLRAP1	Likely pathogenic	1	25883760	25883760	T	G	criteria provided, single submitter	ClinGen:CA339078818,OMIM:605747.0008
single nucleotide variant	NM_000163.5(GHR):c.512T>C (p.Ile171Thr)	GHR	Likely pathogenic	5	42699998	42699998	T	C	criteria provided, single submitter	ClinGen:CA119812,UniProtKB:P10912#VAR_018431,OMIM:600946.0022
single nucleotide variant	NM_000384.3(APOB):c.819-2A>G	APOB	Likely pathogenic	2	21257775	21257775	T	C	criteria provided, single submitter	OMIM:107730.0018
single nucleotide variant	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR	Likely pathogenic	19	11221442	11221442	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001339,UniProtKB:P01130#VAR_005369,ClinGen:CA023408
single nucleotide variant	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	LDLR	Likely pathogenic	19	11223989	11223989	G	A	reviewed by expert panel	ClinGen:CA023437,LDLR-LOVD, British Heart Foundation:LDLR_001379,UniProtKB:P01130#VAR_005378