家族性高コレステロール血症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_000384.3(APOB):c.4590del (p.Asn1531fs)	APOB	Pathogenic	2	21235150	21235150	TG	T	criteria provided, single submitter	ClinGen:CA645372504
single nucleotide variant	NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)	APOB	Pathogenic	2	21235089	21235089	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA43507989
Duplication	NM_000384.3(APOB):c.5116dup (p.Thr1706fs)	APOB	Pathogenic	2	21234623	21234624	G	GT	criteria provided, single submitter	ClinGen:CA16610703
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
Deletion	NM_000384.3(APOB):c.5566_5567del (p.Val1856fs)	APOB	Pathogenic	2	21234173	21234174	AAC	A	criteria provided, single submitter	ClinGen:CA022868,OMIM:107730.0004
single nucleotide variant	NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)	APOB	Pathogenic/Likely pathogenic	2	21233487	21233487	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022883,OMIM:107730.0006
Deletion	NM_000384.3(APOB):c.6543del (p.Phe2181fs)	APOB	Pathogenic/Likely pathogenic	2	21233197	21233197	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter)	APOB	Pathogenic	2	21232203	21232203	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)	APOB	Pathogenic	2	21232176	21232176	G	A	criteria provided, single submitter	ClinGen:CA022919,OMIM:107730.0015
single nucleotide variant	NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter)	APOB	Pathogenic	2	21232135	21232135	G	T	criteria provided, single submitter	ClinGen:CA345996793