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_000527.5(LDLR):c.901G>T (p.Asp301Tyr)	LDLR	Pathogenic/Likely pathogenic	19	11218151	11218151	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585183,LDLR-LOVD, British Heart Foundation:LDLR_000511
single nucleotide variant	NM_000527.5(LDLR):c.902A>C (p.Asp301Ala)	LDLR	Likely pathogenic	19	11218152	11218152	A	C	criteria provided, single submitter	ClinGen:CA10585184,LDLR-LOVD, British Heart Foundation:LDLR_000408,UniProtKB:P01130#VAR_005352
single nucleotide variant	NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)	LDLR	Pathogenic/Likely pathogenic	19	11218152	11218152	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585185,LDLR-LOVD, British Heart Foundation:LDLR_001860,UniProtKB:P01130#VAR_072840
single nucleotide variant	NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)	LDLR	Pathogenic/Likely pathogenic	19	11218156	11218156	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585187,LDLR-LOVD, British Heart Foundation:LDLR_000409,UniProtKB:P01130#VAR_005354
single nucleotide variant	NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)	LDLR	Likely pathogenic	19	11218160	11218160	G	T	reviewed by expert panel	ClinGen:CA10585188,LDLR-LOVD, British Heart Foundation:LDLR_000132
single nucleotide variant	NM_000527.5(LDLR):c.914G>A (p.Trp305Ter)	LDLR	Pathogenic	19	11218164	11218164	G	A	criteria provided, single submitter	ClinGen:CA10585189,LDLR-LOVD, British Heart Foundation:LDLR_000133
single nucleotide variant	NM_000527.5(LDLR):c.915G>A (p.Trp305Ter)	LDLR	Pathogenic	19	11218165	11218165	G	A	criteria provided, single submitter	ClinGen:CA030183,LDLR-LOVD, British Heart Foundation:LDLR_001864
Duplication	NM_000527.5(LDLR):c.916_919dup (p.Asp307fs)	LDLR	Pathogenic	19	11218166	11218169	G	GGTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585192,LDLR-LOVD, British Heart Foundation:LDLR_000363
single nucleotide variant	NM_000527.5(LDLR):c.917C>A (p.Ser306Ter)	LDLR	Pathogenic	19	11218167	11218167	C	A	criteria provided, single submitter	ClinGen:CA10585193,LDLR-LOVD, British Heart Foundation:LDLR_001131
single nucleotide variant	NM_000527.5(LDLR):c.917C>G (p.Ser306Ter)	LDLR	Pathogenic	19	11218167	11218167	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585194,LDLR-LOVD, British Heart Foundation:LDLR_000513

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