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.2140+1G>A	LDLR	Pathogenic	19	11231199	11231199	G	A	reviewed by expert panel	ClinGen:CA023643,LDLR-LOVD, British Heart Foundation:LDLR_000282,OMIM:606945.0063
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_000527.5(LDLR):c.621C>T (p.Gly207=)	LDLR	Pathogenic/Likely pathogenic	19	11216203	11216203	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023732,LDLR-LOVD, British Heart Foundation:LDLR_001228,OMIM:606945.0066
single nucleotide variant	NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1	Pathogenic	1	25870254	25870254	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117067,OMIM:605747.0001
single nucleotide variant	NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	LDLRAP1	Pathogenic	1	25883705	25883705	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117070,OMIM:605747.0003
single nucleotide variant	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Pathogenic	1	25880412	25880412	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA695429,OMIM:605747.0007
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
Duplication	NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	LDLRAP1	Pathogenic	1	25889626	25889627	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA695637,OMIM:605747.0009
single nucleotide variant	NM_000163.5(GHR):c.181C>T (p.Arg61Ter)	GHR	Pathogenic	5	42689036	42689036	C	T	criteria provided, single submitter	ClinGen:CA119791,OMIM:600946.0003
single nucleotide variant	NM_000163.5(GHR):c.168C>A (p.Cys56Ter)	GHR	Pathogenic	5	42689023	42689023	C	A	criteria provided, single submitter	ClinGen:CA119793,OMIM:600946.0004