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_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_000163.5(GHR):c.508G>C (p.Asp170His)	GHR	Pathogenic/Likely pathogenic	5	42699994	42699994	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119811,UniProtKB:P10912#VAR_002713,OMIM:600946.0021
single nucleotide variant	NM_000163.5(GHR):c.303C>A (p.Cys101Ter)	GHR	Pathogenic	5	42695055	42695055	C	A	criteria provided, single submitter	ClinGen:CA119815,OMIM:600946.0029
single nucleotide variant	NM_000163.5(GHR):c.266+1G>A	GHR	Pathogenic	5	42689122	42689122	G	A	criteria provided, single submitter	OMIM:600946.0010
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
single nucleotide variant	NM_000163.5(GHR):c.102G>A (p.Trp34Ter)	GHR	Pathogenic	5	42629171	42629171	G	A	criteria provided, single submitter	ClinGen:CA119813,OMIM:600946.0027
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_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.431dup (p.His144fs)	LDLRAP1	Pathogenic	1	25883729	25883730	C	CA	criteria provided, multiple submitters, no conflicts	-