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

Excelでダウンロード

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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.794G>A (p.Arg265Gln)	PTPN11	Pathogenic	12	112910785	112910785	G	A	reviewed by expert panel	ClinGen:CA234739
single nucleotide variant	NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)	PTPN11	Pathogenic/Likely pathogenic	12	112910793	112910793	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261597
single nucleotide variant	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	PTPN11	Pathogenic	12	112910835	112910835	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220152,UniProtKB:Q06124#VAR_015615
single nucleotide variant	NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	PTPN11	Pathogenic/Likely pathogenic	12	112910837	112910837	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261600
single nucleotide variant	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11	Pathogenic	12	112910844	112910844	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220155
single nucleotide variant	NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)	PTPN11	Pathogenic/Likely pathogenic	12	112915455	112915455	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261603
single nucleotide variant	NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)	PTPN11	Pathogenic/Likely pathogenic	12	112915524	112915524	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261607
single nucleotide variant	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	PTPN11	Pathogenic	12	112926248	112926248	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261537
single nucleotide variant	NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)	PTPN11	Pathogenic	12	112926269	112926269	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA282123
single nucleotide variant	NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	PTPN11	Pathogenic/Likely pathogenic	12	112926851	112926851	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261540

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