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.1524del (p.Gly509fs)	ATM	Pathogenic/Likely pathogenic	11	108121715	108121715	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274435
single nucleotide variant	NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	ATM	Pathogenic/Likely pathogenic	11	108172385	108172385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334791
single nucleotide variant	NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	ATM	Pathogenic/Likely pathogenic	11	108175420	108175420	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274462
single nucleotide variant	NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	ATM	Pathogenic/Likely pathogenic	11	108175549	108175549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334788
single nucleotide variant	NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	ATM	Pathogenic/Likely pathogenic	11	108213987	108213987	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA334794
Deletion	NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	ATM	Pathogenic/Likely pathogenic	11	108235832	108235835	TTGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274409
Deletion	NM_000051.3(ATM):c.4111delG	ATM	Pathogenic/Likely pathogenic	11	108159703	108159703	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA276028
Duplication	NM_000051.4(ATM):c.6049dup (p.Ser2017fs)	ATM	Pathogenic	11	108186591	108186592	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA276124
single nucleotide variant	NM_000051.4(ATM):c.140C>G (p.Ser47Ter)	ATM	Pathogenic	11	108098570	108098570	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA336635
single nucleotide variant	NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	ATM	Pathogenic	11	108115600	108115600	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA336868

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