遺伝性難聴 - MGenReviews

遺伝性難聴

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

1
...
123
124
125
126
127
...
158

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_001384140.1(PCDH15):c.4367+2T>C	PCDH15	Likely pathogenic	10	55587151	55587151	A	G	criteria provided, single submitter	-
Deletion	NM_001384140.1(PCDH15):c.4211+1del	PCDH15	Likely pathogenic	10	55588324	55588324	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3984-2A>G	PCDH15	Likely pathogenic	10	55591295	55591295	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3807-2A>G	PCDH15	Likely pathogenic	10	55600258	55600258	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3806+1G>C	PCDH15	Likely pathogenic	10	55616934	55616934	C	G	criteria provided, single submitter	-
Deletion	NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs)	PCDH15	Likely pathogenic	10	55617007	55617010	CTGAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3233-2A>G	PCDH15	Likely pathogenic	10	55698717	55698717	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001384140.1(PCDH15):c.1305+1del	PCDH15	Likely pathogenic	10	55955442	55955442	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs)	PCDH15	Likely pathogenic	10	55587282	55587283	TGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3806+2T>C	PCDH15	Likely pathogenic	10	55616933	55616933	A	G	criteria provided, multiple submitters, no conflicts	-

1
...
123
124
125
126
127
...
158