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
Deletion	NM_000051.4(ATM):c.689del (p.Asn230fs)	ATM	Pathogenic/Likely pathogenic	11	108115539	108115539	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043454
single nucleotide variant	NM_000051.4(ATM):c.497-1G>A	ATM	Likely pathogenic	11	108114679	108114679	G	A	criteria provided, single submitter	ClinVar:424841,ClinGen:CA6264624
single nucleotide variant	NM_000051.4(ATM):c.1236-2A>T	ATM	Pathogenic	11	108121426	108121426	A	T	criteria provided, multiple submitters, no conflicts	ClinVar:424841,ClinGen:CA6264792
single nucleotide variant	NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)	ATM	Pathogenic/Likely pathogenic	11	108158439	108158439	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606070
single nucleotide variant	NM_000051.4(ATM):c.6096-2A>G	ATM	Pathogenic/Likely pathogenic	11	108186736	108186736	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA501172
single nucleotide variant	NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)	ATM	Pathogenic/Likely pathogenic	11	108124757	108124757	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606161
single nucleotide variant	NM_000051.4(ATM):c.901+1G>C	ATM	Pathogenic	11	108115754	108115754	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606776
single nucleotide variant	NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)	ATM	Pathogenic	11	108218062	108218062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606855
Deletion	NC_000011.10:g.(?_108222832)_(108369099_?)del	ATM	Pathogenic	11	108093559	108239826	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)	ATM	Pathogenic	11	108119805	108119806	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612981

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