ヌーナン症候群 - MGenReviews

ヌーナン症候群

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_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal)	PTPN11	Pathogenic	12	112888163	112888166	GTGA	T	criteria provided, single submitter	ClinGen:CA282067
single nucleotide variant	NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	PTPN11	Pathogenic	12	112888163	112888163	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261562,UniProtKB:Q06124#VAR_015602
single nucleotide variant	NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	PTPN11	Pathogenic	12	112888165	112888165	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA282070
single nucleotide variant	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11	Pathogenic	12	112888165	112888165	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA235316,UniProtKB:Q06124#VAR_015604
single nucleotide variant	NM_002834.5(PTPN11):c.182A>T (p.Asp61Val)	PTPN11	Pathogenic	12	112888166	112888166	A	T	criteria provided, single submitter	UniProtKB:Q06124#VAR_015991
single nucleotide variant	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11	Likely pathogenic	12	112888168	112888168	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	PTPN11	Pathogenic	12	112888189	112888189	G	C	reviewed by expert panel	ClinGen:CA261565,UniProtKB:Q06124#VAR_027185
single nucleotide variant	NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	PTPN11	Pathogenic/Likely pathogenic	12	112888195	112888195	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273215,UniProtKB:Q06124#VAR_015995
single nucleotide variant	NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	PTPN11	Pathogenic/Likely pathogenic	12	112888198	112888198	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261571
single nucleotide variant	NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)	PTPN11	Pathogenic/Likely pathogenic	12	112888201	112888201	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA282079

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