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.8416_8418+5del	ATM	Likely pathogenic	11	108214095	108214102	TGATGGTGA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1066-3_1072del	ATM	Likely pathogenic	11	108119652	108119661	ATTTTACAGGT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3285-2A>G	ATM	Pathogenic	11	108150216	108150216	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5496+2T>G	ATM	Likely pathogenic	11	108173758	108173758	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6453-1G>A	ATM	Likely pathogenic	11	108192027	108192027	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6976-1G>A	ATM	Pathogenic	11	108198371	108198371	G	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.8781_8786+2del	ATM	Pathogenic	11	108224601	108224608	TTCAGAAGG	T	criteria provided, single submitter	-
Duplication	NC_000011.9:g.(?_108114670)_(108225611_?)dup	ATM	Likely pathogenic	11	108114670	108225611	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108317363)_(108317531_?)del	ATM	Pathogenic	11	108188090	108188258	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1092_1235+363del	ATM	Likely pathogenic	11	108119686	108120192	TGGAGATTTCTCAATCTTACACTACTACACAAAGAGAATCTAGTGATTACAGTGTCCCTTGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAAAGATCACCTTCAGAAGTCACAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTCAGTGTCATTTTAATCTCTTGTATGTTATTTTTCAGAAAACTTTCAGTGGAATCCTTTCATCTCAACCAGAACTAAGTCATTTGTCTACCCCCAAACCTATTACTAGCAAAGGGATATGTGATTGCCATGACAAATGAGATCAATCATTAATGGCTCATTTGCTTGGGCCAAGTGCAGGGCCACCTATTTTAATCATATTGTCATAGCAAGTTAAGAAGGAGGACTGGCTCTCTGATAGGCAATTAGAAGTGTGCACCTCATGGAATTCACTGAATTGTACGCTTCAACAATAGATTTTAGCATACGTAGCACCTTCTAATAGAATTAGGAAGAAGTTA	T	criteria provided, single submitter	-

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