原発性免疫不全症候群 - MGenReviews

原発性免疫不全症候群

小児・神経疾患

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_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	ATM	Pathogenic	11	108119704	108119704	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA168151
single nucleotide variant	NM_000051.4(ATM):c.6976-2A>C	ATM	Pathogenic/Likely pathogenic	11	108198370	108198370	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294376
Duplication	NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)	ATM	Pathogenic	11	108206625	108206626	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA168643
Insertion	NM_000051.4(ATM):c.6403_6404insCT (p.Leu2135fs)	ATM	Pathogenic	11	108190736	108190737	C	CCT	criteria provided, single submitter	ClinGen:CA168731
Deletion	NM_000051.4(ATM):c.8432del (p.Lys2811fs)	ATM	Pathogenic	11	108216477	108216477	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168737
Deletion	NM_000051.4(ATM):c.1236-3_1236-2del	ATM	Pathogenic	11	108121425	108121426	TTA	T	criteria provided, single submitter	ClinGen:CA168774
single nucleotide variant	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM	Pathogenic/Likely pathogenic	11	108205832	108205832	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294465
Deletion	NM_000051.4(ATM):c.717_720del (p.Phe239fs)	ATM	Pathogenic	11	108115569	108115572	TCCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169212
single nucleotide variant	NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	ATM	Pathogenic/Likely pathogenic	11	108205807	108205807	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169419
Deletion	NM_000051.4(ATM):c.5396del (p.Ser1799fs)	ATM	Pathogenic	11	108173656	108173656	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169727

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