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
Indel	NM_000051.4(ATM):c.2829_2838+16delinsA	ATM	Likely pathogenic	11	108139327	108139352	CCTGCATATGGTGAGTTACGTTAAAT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)	ATM	Pathogenic	11	108122698	108122702	TTATTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.8484del (p.Gln2828fs)	ATM	Pathogenic	11	108216534	108216534	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.9146del (p.Phe3049fs)	ATM	Likely pathogenic	11	108236207	108236207	CT	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM	Pathogenic/Likely pathogenic	11	108186625	108186625	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	ATM	Pathogenic/Likely pathogenic	11	108216476	108216476	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)	ATM	Pathogenic	11	108158373	108158373	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3873T>G (p.Leu1291=)	ATM	Likely pathogenic	11	108155080	108155080	T	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6273del (p.Trp2091fs)	ATM	Pathogenic/Likely pathogenic	11	108188173	108188173	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.496G>C (p.Glu166Gln)	ATM	Pathogenic	11	108106561	108106561	G	C	criteria provided, single submitter	-

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