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.1633G>C (p.Gly545Arg)	LDLR	Likely pathogenic	19	11226816	11226816	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585535,LDLR-LOVD, British Heart Foundation:LDLR_001477
single nucleotide variant	NM_000527.5(LDLR):c.1633G>T (p.Gly545Trp)	LDLR	Likely pathogenic	19	11226816	11226816	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585536,LDLR-LOVD, British Heart Foundation:LDLR_001478
single nucleotide variant	NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)	LDLR	Pathogenic/Likely pathogenic	19	11226817	11226817	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA035471,LDLR-LOVD, British Heart Foundation:LDLR_001479
single nucleotide variant	NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg)	LDLR	Pathogenic/Likely pathogenic	19	11226819	11226819	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585537,LDLR-LOVD, British Heart Foundation:LDLR_000543
single nucleotide variant	NM_000527.5(LDLR):c.1637G>T (p.Gly546Val)	LDLR	Pathogenic/Likely pathogenic	19	11226820	11226820	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585538,LDLR-LOVD, British Heart Foundation:LDLR_000562
Indel	NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs)	LDLR	Pathogenic	19	11226823	11226835	TGAATGGTGTGGA	AGCGTCATCTTCCTGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585540,LDLR-LOVD, British Heart Foundation:LDLR_000553
single nucleotide variant	NM_000527.5(LDLR):c.1644T>A (p.Asn548Lys)	LDLR	Likely pathogenic	19	11226827	11226827	T	A	criteria provided, single submitter	ClinGen:CA10585541,LDLR-LOVD, British Heart Foundation:LDLR_001481
single nucleotide variant	NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys)	LDLR	Likely pathogenic	19	11226827	11226827	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585542,LDLR-LOVD, British Heart Foundation:LDLR_001482
Insertion	NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs)	LDLR	Pathogenic	19	11226827	11226828	T	TC	criteria provided, single submitter	ClinGen:CA10585543,LDLR-LOVD, British Heart Foundation:LDLR_000221
Insertion	NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs)	LDLR	Pathogenic	19	11226828	11226829	G	GC	criteria provided, single submitter	ClinGen:CA10585544,LDLR-LOVD, British Heart Foundation:LDLR_001483

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