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
single nucleotide variant	NM_000527.4(LDLR):c.-135C>G	LDLR	Pathogenic/Likely pathogenic	19	11200090	11200090	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584710,LDLR-LOVD, British Heart Foundation:LDLR_000003
single nucleotide variant	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	LDLR	Pathogenic	19	11200225	11200225	A	C	reviewed by expert panel	ClinGen:CA10584718,LDLR-LOVD, British Heart Foundation:LDLR_000356
single nucleotide variant	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR	Likely pathogenic	19	11200225	11200225	A	G	reviewed by expert panel	ClinGen:CA10584719,LDLR-LOVD, British Heart Foundation:LDLR_000328
single nucleotide variant	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR	Pathogenic	19	11200225	11200225	A	T	reviewed by expert panel	ClinGen:CA10584720,LDLR-LOVD, British Heart Foundation:LDLR_000445
single nucleotide variant	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR	Likely pathogenic	19	11200227	11200227	G	T	reviewed by expert panel	ClinGen:CA10584721,LDLR-LOVD, British Heart Foundation:LDLR_000316
Deletion	NM_000527.5(LDLR):c.9del (p.Trp4fs)	LDLR	Pathogenic	19	11200231	11200231	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584723,LDLR-LOVD, British Heart Foundation:LDLR_001899
single nucleotide variant	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR	Pathogenic	19	11200235	11200235	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584724,LDLR-LOVD, British Heart Foundation:LDLR_001492
single nucleotide variant	NM_000527.5(LDLR):c.28T>A (p.Trp10Arg)	LDLR	Likely pathogenic	19	11200252	11200252	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584725,LDLR-LOVD, British Heart Foundation:LDLR_001681
single nucleotide variant	NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)	LDLR	Pathogenic/Likely pathogenic	19	11200252	11200252	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584726,LDLR-LOVD, British Heart Foundation:LDLR_000260
Deletion	NM_000527.5(LDLR):c.28_38del (p.Trp10fs)	LDLR	Pathogenic	19	11200252	11200262	GCGCTGGACCGT	G	criteria provided, single submitter	ClinGen:CA10584727,LDLR-LOVD, British Heart Foundation:LDLR_001677

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