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
single nucleotide variant	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	PTPN11	Pathogenic	12	112888212	112888212	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261580,UniProtKB:Q06124#VAR_015610
single nucleotide variant	NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)	PTPN11	Pathogenic	12	112888212	112888212	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261577,UniProtKB:Q06124#VAR_015610
single nucleotide variant	NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	PTPN11	Pathogenic	12	112888301	112888301	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261584,UniProtKB:Q06124#VAR_015612
single nucleotide variant	NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	PTPN11	Pathogenic/Likely pathogenic	12	112888312	112888312	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261587
single nucleotide variant	NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	PTPN11	Pathogenic/Likely pathogenic	12	112888313	112888313	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA282085
single nucleotide variant	NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	PTPN11	Pathogenic	12	112891083	112891083	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261590,UniProtKB:Q06124#VAR_015613
single nucleotide variant	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11	Pathogenic	12	112891083	112891083	G	C	reviewed by expert panel	ClinGen:CA177671,UniProtKB:Q06124#VAR_015613
single nucleotide variant	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	PTPN11	Pathogenic	12	112910758	112910758	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA235325,UniProtKB:Q06124#VAR_027187
single nucleotide variant	NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	PTPN11	Pathogenic	12	112910772	112910772	C	T	reviewed by expert panel	ClinGen:CA235373
single nucleotide variant	NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)	PTPN11	Pathogenic	12	112910776	112910776	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA267615

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