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.15dup (p.Asn6Ter)	ATM	Pathogenic	11	108098364	108098365	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578937
Deletion	NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	ATM	Pathogenic	11	108098394	108098394	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264499
single nucleotide variant	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	ATM	Pathogenic	11	108098418	108098418	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264503
Deletion	NM_000051.4(ATM):c.119_122del (p.Ile40fs)	ATM	Pathogenic/Likely pathogenic	11	108098547	108098550	CAATT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578943
single nucleotide variant	NM_000051.4(ATM):c.205C>T (p.Gln69Ter)	ATM	Pathogenic	11	108099924	108099924	C	T	criteria provided, single submitter	ClinGen:CA10578950
single nucleotide variant	NM_000051.4(ATM):c.331+5G>A	ATM	Pathogenic/Likely pathogenic	11	108100055	108100055	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264551
single nucleotide variant	NM_000051.4(ATM):c.332-1G>A	ATM	Pathogenic	11	108106396	108106396	G	A	reviewed by expert panel	ClinGen:CA6264590
single nucleotide variant	NM_000051.4(ATM):c.496+1G>A	ATM	Likely pathogenic	11	108106562	108106562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578961
Deletion	NM_000051.4(ATM):c.564del (p.Arg189fs)	ATM	Pathogenic	11	108114747	108114747	CT	C	criteria provided, single submitter	ClinGen:CA10578964
Deletion	NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)	ATM	Pathogenic	11	108114786	108114789	AGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578966

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