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_006939.4(SOS2):c.800T>G (p.Met267Arg)	SOS2	Pathogenic/Likely pathogenic	14	50649239	50649239	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006939.4(SOS2):c.800T>C (p.Met267Thr)	SOS2	Pathogenic	14	50649239	50649239	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021010
single nucleotide variant	NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	SOS2	Pathogenic	14	50649239	50649239	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204984,UniProtKB:Q07890#VAR_075686,OMIM:601247.0002
single nucleotide variant	NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)	SOS2	Pathogenic	14	50628269	50628269	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA358853,UniProtKB:Q07890#VAR_075689,OMIM:601247.0001
Indel	NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg)	SOS1	Likely pathogenic	2	39250275	39250276	AA	TC	criteria provided, single submitter	-
single nucleotide variant	NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)	SOS1	Likely pathogenic	2	39241979	39241979	A	T	reviewed by expert panel	-
single nucleotide variant	NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)	SOS1	Pathogenic/Likely pathogenic	2	39239450	39239450	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346364396
single nucleotide variant	NM_005633.4(SOS1):c.305C>G (p.Pro102Arg)	SOS1	Likely pathogenic	2	39285854	39285854	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346373860
single nucleotide variant	NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)	SOS1	Likely pathogenic	2	39281778	39281778	T	A	criteria provided, single submitter	ClinGen:CA16602968
single nucleotide variant	NM_005633.4(SOS1):c.1859A>G (p.Asp620Gly)	SOS1	Likely pathogenic	2	39241987	39241987	T	C	criteria provided, single submitter	ClinGen:CA16042483

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