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_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
single nucleotide variant	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB	Pathogenic/Likely pathogenic	2	21229160	21229160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA022750,OMIM:107730.0009
Deletion	NM_000384.3(APOB):c.9200del (p.Lys3067fs)	APOB	Pathogenic	2	21230540	21230540	CT	C	criteria provided, single submitter	ClinGen:CA022945,OMIM:107730.0012
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
Deletion	NM_000384.3(APOB):c.11712del (p.Asn3904fs)	APOB	Pathogenic	2	21228028	21228028	TG	T	criteria provided, single submitter	ClinGen:CA022765,OMIM:107730.0016
single nucleotide variant	NM_000384.3(APOB):c.819-2A>G	APOB	Likely pathogenic	2	21257775	21257775	T	C	criteria provided, single submitter	OMIM:107730.0018
single nucleotide variant	NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)	APOB	Pathogenic	2	21238041	21238041	A	T	criteria provided, single submitter	ClinGen:CA022822,OMIM:107730.0021
single nucleotide variant	NM_000527.5(LDLR):c.2140+86C>G	LDLR	Pathogenic/Likely pathogenic	19	11231284	11231284	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023647,LDLR-LOVD, British Heart Foundation:LDLR_000284,OMIM:606945.0067
single nucleotide variant	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR	Likely pathogenic	19	11221442	11221442	G	A	reviewed by expert panel	LDLR-LOVD, British Heart Foundation:LDLR_001339,UniProtKB:P01130#VAR_005369,ClinGen:CA023408

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