マルファン症候群 - MGenReviews

マルファン症候群

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_000138.5(FBN1):c.7259del (p.Asn2420fs)	FBN1	Likely pathogenic	15	48718007	48718007	AT	A	criteria provided, single submitter	ClinGen:CA353638
single nucleotide variant	NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)	FBN1	Pathogenic/Likely pathogenic	15	48719827	48719827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353645
Deletion	NM_000138.5(FBN1):c.7109del (p.Gly2370fs)	FBN1	Likely pathogenic	15	48719859	48719859	GC	G	criteria provided, single submitter	ClinGen:CA353658
single nucleotide variant	NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)	FBN1	Likely pathogenic	15	48722874	48722874	A	G	criteria provided, single submitter	ClinGen:CA353628
single nucleotide variant	NM_000138.5(FBN1):c.6739+1G>A	FBN1	Pathogenic/Likely pathogenic	15	48725062	48725062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353631
single nucleotide variant	NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)	FBN1	Pathogenic/Likely pathogenic	15	48725108	48725108	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353642
single nucleotide variant	NM_000138.5(FBN1):c.5918-2A>G	FBN1	Pathogenic/Likely pathogenic	15	48736859	48736859	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353677
Duplication	NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)	FBN1	Pathogenic/Likely pathogenic	15	48756144	48756145	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA353693
Deletion	NM_000138.5(FBN1):c.4197del (p.Phe1400fs)	FBN1	Likely pathogenic	15	48766465	48766465	AG	A	criteria provided, single submitter	ClinGen:CA353691
Duplication	NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)	FBN1	Likely pathogenic	15	48773922	48773923	G	GT	criteria provided, single submitter	ClinGen:CA353651

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