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.594A>G (p.Glu198=)	GHR	Pathogenic	5	42700080	42700080	A	G	criteria provided, single submitter	ClinGen:CA119795,OMIM:600946.0005
single nucleotide variant	NM_000163.5(GHR):c.703C>T (p.Arg235Ter)	GHR	Pathogenic	5	42711393	42711393	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119802,OMIM:600946.0009
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.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.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.618+792A>G	GHR	Pathogenic	5	42700896	42700896	A	G	criteria provided, single submitter	OMIM:600946.0025
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
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
Deletion	NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)	APOB	Pathogenic	2	21234474	21234477	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA022852,OMIM:107730.0001
single nucleotide variant	NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)	APOB	Pathogenic	2	21236251	21236251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022827,OMIM:107730.0003