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_004985.5(KRAS):c.37G>T (p.Gly13Cys)	KRAS	Pathogenic/Likely pathogenic	12	25398282	25398282	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA135570,OMIM:190070.0023
single nucleotide variant	NM_004985.5(KRAS):c.38G>T (p.Gly13Val)	KRAS	Pathogenic	12	25398281	25398281	C	A	criteria provided, single submitter	ClinGen:CA135573
single nucleotide variant	NM_004985.5(KRAS):c.39C>T (p.Gly13=)	KRAS	Likely pathogenic	12	25398280	25398280	G	A	criteria provided, single submitter	ClinGen:CA135576
single nucleotide variant	NM_004985.5(KRAS):c.454G>T (p.Val152Phe)	KRAS	Likely pathogenic	12	25362842	25362842	C	A	criteria provided, single submitter	ClinGen:CA261705
single nucleotide variant	NM_004985.5(KRAS):c.466T>G (p.Phe156Val)	KRAS	Pathogenic/Likely pathogenic	12	25362830	25362830	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261709
single nucleotide variant	NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)	SOS1	Pathogenic/Likely pathogenic	2	39251221	39251221	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261714,UniProtKB:Q07889#VAR_066036
single nucleotide variant	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1	Pathogenic/Likely pathogenic	2	39250259	39250259	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261719,UniProtKB:Q07889#VAR_066042
single nucleotide variant	NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)	SOS1	Likely pathogenic	2	39224122	39224122	A	G	criteria provided, single submitter	ClinGen:CA261736
single nucleotide variant	NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)	SOS1	Likely pathogenic	2	39285824	39285824	G	C	criteria provided, single submitter	ClinGen:CA261741,UniProtKB:Q07889#VAR_066033
single nucleotide variant	NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	SOS1	Likely pathogenic	2	39281963	39281963	A	G	reviewed by expert panel	ClinGen:CA261743

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