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

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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_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)	OTOG	Pathogenic/Likely pathogenic	11	17635243	17635243	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130588,OMIM:604487.0003
single nucleotide variant	NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)	OTOF	Pathogenic	2	26703836	26703836	C	T	criteria provided, single submitter	ClinGen:CA261250,OMIM:603681.0013
single nucleotide variant	NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)	MYO7A	Pathogenic/Likely pathogenic	11	76871225	76871225	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278619
single nucleotide variant	NM_000260.4(MYO7A):c.1200+1G>A	MYO7A	Pathogenic/Likely pathogenic	11	76871329	76871329	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278621
single nucleotide variant	NM_000260.4(MYO7A):c.1344-2A>G	MYO7A	Pathogenic	11	76873164	76873164	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278623
single nucleotide variant	NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val)	MYO7A	Likely pathogenic	11	76873192	76873192	C	T	criteria provided, single submitter	ClinGen:CA278624,UniProtKB:Q13402#VAR_024046
single nucleotide variant	NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter)	MYO7A	Pathogenic	11	76858852	76858852	G	A	criteria provided, single submitter	ClinGen:CA278627
single nucleotide variant	NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)	MYO7A	Pathogenic/Likely pathogenic	11	76873900	76873900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278629,UniProtKB:Q13402#VAR_024047
Deletion	NM_000260.3(MYO7A):c.1556delG	MYO7A	Pathogenic	11	76873898	76873898	AG	A	criteria provided, single submitter	ClinGen:CA278630
single nucleotide variant	NM_000260.4(MYO7A):c.1690+1G>A	MYO7A	Likely pathogenic	11	76874035	76874035	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278631

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