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.1466A>G (p.Tyr489Cys)	LDLR	Likely pathogenic	19	11224318	11224318	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585469,LDLR-LOVD, British Heart Foundation:LDLR_001055
single nucleotide variant	NM_000527.5(LDLR):c.1468T>G (p.Trp490Gly)	LDLR	Likely pathogenic	19	11224320	11224320	T	G	criteria provided, single submitter	LDLR-LOVD, British Heart Foundation:LDLR_001440,ClinGen:CA10585470
single nucleotide variant	NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter)	LDLR	Pathogenic	19	11224322	11224322	G	A	criteria provided, single submitter	ClinGen:CA10585471,LDLR-LOVD, British Heart Foundation:LDLR_001441
Duplication	NM_000527.5(LDLR):c.1471dup (p.Thr491fs)	LDLR	Pathogenic	19	11224323	11224323	G	GA	criteria provided, single submitter	ClinGen:CA10585472,LDLR-LOVD, British Heart Foundation:LDLR_000204
single nucleotide variant	NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)	LDLR	Likely pathogenic	19	11224327	11224327	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585475,LDLR-LOVD, British Heart Foundation:LDLR_001056
Indel	NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs)	LDLR	Pathogenic	19	11224329	11224331	TCT	AGAGACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585476,LDLR-LOVD, British Heart Foundation:LDLR_000549
single nucleotide variant	NM_000527.5(LDLR):c.1487G>T (p.Gly496Val)	LDLR	Likely pathogenic	19	11224339	11224339	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585477,LDLR-LOVD, British Heart Foundation:LDLR_001443
single nucleotide variant	NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro)	LDLR	Likely pathogenic	19	11224341	11224341	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585478,LDLR-LOVD, British Heart Foundation:LDLR_000207
Deletion	NM_000527.5(LDLR):c.1498_1499del (p.Val500fs)	LDLR	Pathogenic	19	11224350	11224351	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585482,LDLR-LOVD, British Heart Foundation:LDLR_001445
single nucleotide variant	NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)	LDLR	Likely pathogenic	19	11224354	11224354	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585483,LDLR-LOVD, British Heart Foundation:LDLR_000893

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