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
Duplication	NM_000051.4(ATM):c.3218dup (p.Phe1074fs)	ATM	Pathogenic/Likely pathogenic	11	108143512	108143513	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579090
Deletion	NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)	ATM	Pathogenic	11	108143545	108143552	CCAAGTTCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579091
Duplication	NM_000051.4(ATM):c.3335dup (p.Leu1113fs)	ATM	Pathogenic	11	108150266	108150267	T	TC	criteria provided, single submitter	ClinGen:CA10579098
single nucleotide variant	NM_000051.4(ATM):c.3402+2T>C	ATM	Likely pathogenic	11	108150337	108150337	T	C	criteria provided, single submitter	ClinGen:CA10579105
Duplication	NM_000051.4(ATM):c.3510dup (p.Gln1171fs)	ATM	Pathogenic/Likely pathogenic	11	108151824	108151825	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579108
single nucleotide variant	NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)	ATM	Pathogenic	11	108151830	108151830	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579109
single nucleotide variant	NM_000051.4(ATM):c.3576+1G>A	ATM	Likely pathogenic	11	108151896	108151896	G	A	criteria provided, single submitter	ClinGen:CA10579114
Indel	NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)	ATM	Pathogenic	11	108153477	108153481	TAGAA	G	criteria provided, single submitter	ClinGen:CA10579117
Deletion	NM_000051.4(ATM):c.3704del (p.Pro1235fs)	ATM	Pathogenic	11	108153563	108153563	TC	T	criteria provided, single submitter	ClinGen:CA10579120
Deletion	NM_000051.4(ATM):c.3850del (p.Thr1284fs)	ATM	Pathogenic	11	108155056	108155056	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579124

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