家族性高コレステロール血症 - MGenReviews

家族性高コレステロール血症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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_000527.5(LDLR):c.877del (p.Asp293fs)	LDLR	Pathogenic	19	11218126	11218126	TG	T	criteria provided, single submitter	ClinGen:CA10585170,LDLR-LOVD, British Heart Foundation:LDLR_000130
single nucleotide variant	NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)	LDLR	Likely pathogenic	19	11218130	11218130	A	G	criteria provided, single submitter	ClinGen:CA10585171,LDLR-LOVD, British Heart Foundation:LDLR_000334
Deletion	NM_000527.5(LDLR):c.881_882del (p.Lys294fs)	LDLR	Pathogenic	19	11218131	11218132	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585172,LDLR-LOVD, British Heart Foundation:LDLR_000991
Deletion	NM_000527.5(LDLR):c.884del (p.Val295fs)	LDLR	Pathogenic	19	11218134	11218134	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585173,LDLR-LOVD, British Heart Foundation:LDLR_000834
Indel	NM_000527.5(LDLR):c.887_889delinsAGC (p.Cys296_Asn297delinsTer)	LDLR	Pathogenic	19	11218137	11218139	GCA	AGC	criteria provided, single submitter	ClinGen:CA10585176,LDLR-LOVD, British Heart Foundation:LDLR_000131
single nucleotide variant	NM_000527.5(LDLR):c.888C>A (p.Cys296Ter)	LDLR	Pathogenic	19	11218138	11218138	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585177,LDLR-LOVD, British Heart Foundation:LDLR_000638
Deletion	NM_000527.5(LDLR):c.890del (p.Asn297fs)	LDLR	Pathogenic	19	11218139	11218139	CA	C	criteria provided, single submitter	ClinGen:CA030039,LDLR-LOVD, British Heart Foundation:LDLR_001018
Deletion	NM_000527.5(LDLR):c.896del (p.Ala299fs)	LDLR	Pathogenic	19	11218146	11218146	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585181,LDLR-LOVD, British Heart Foundation:LDLR_000510
single nucleotide variant	NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	LDLR	Likely pathogenic	19	11218148	11218148	A	G	reviewed by expert panel	ClinGen:CA030068,LDLR-LOVD, British Heart Foundation:LDLR_001858,UniProtKB:P01130#VAR_072839
single nucleotide variant	NM_000527.5(LDLR):c.898A>T (p.Arg300Ter)	LDLR	Pathogenic	19	11218148	11218148	A	T	criteria provided, single submitter	ClinGen:CA10585182,LDLR-LOVD, British Heart Foundation:LDLR_001859

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