膿疱性乾癬 (汎発型) - MGenReviews

膿疱性乾癬 (汎発型)

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_012275.3(IL36RN):c.80T>C (p.Leu27Pro)	IL36RN	Pathogenic	2	113818479	113818479	T	C	criteria provided, multiple submitters, no conflicts	OMIM:605507.0001,ClinGen:CA129266,UniProtKB:Q9UBH0#VAR_066646
single nucleotide variant	NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser)	CARD14	Pathogenic	17	78156589	78156589	G	A	criteria provided, single submitter	ClinGen:CA129841,UniProtKB/Swiss-Prot:VAR_068224,OMIM:607211.0001
single nucleotide variant	NM_001366385.1(CARD14):c.349+5G>A	CARD14	Pathogenic	17	78156594	78156594	G	A	criteria provided, single submitter	ClinGen:CA129842,OMIM:607211.0002
single nucleotide variant	NM_001366385.1(CARD14):c.349+1G>A	CARD14	Pathogenic	17	78156590	78156590	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603326,OMIM:607211.0008
single nucleotide variant	NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys)	CARD14	Pathogenic	17	78157774	78157774	G	A	criteria provided, single submitter	-

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