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
...
127
128
129
130
131
...
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_153676.4(USH1C):c.819+1G>A	USH1C	Likely pathogenic	11	17544965	17544965	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	MYO7A	Likely pathogenic	11	76871311	76871311	C	T	reviewed by expert panel	-
single nucleotide variant	NM_153676.4(USH1C):c.579+1G>C	USH1C	Pathogenic/Likely pathogenic	11	17548299	17548299	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76873935	76873935	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.1691-2A>G	MYO7A	Likely pathogenic	11	76877100	76877100	A	G	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.2283-2_2293del	MYO7A	Likely pathogenic	11	76890085	76890097	GTTTCAGGTCTAAC	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs)	MYO7A	Likely pathogenic	11	76903189	76903189	G	CC	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4254del (p.Asp1419fs)	MYO7A	Pathogenic/Likely pathogenic	11	76905497	76905497	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs)	MYO7A	Likely pathogenic	11	76910837	76910838	T	TG	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4894del (p.Leu1632fs)	MYO7A	Likely pathogenic	11	76912533	76912533	AC	A	criteria provided, single submitter	-

1
...
127
128
129
130
131
...
158