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
Duplication	NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer)	MYO7A	Likely pathogenic	11	76883828	76883829	G	GCAGCCA	criteria provided, single submitter	ClinGen:CA278632
single nucleotide variant	NM_000260.4(MYO7A):c.19-1G>A	MYO7A	Likely pathogenic	11	76853754	76853754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278634
single nucleotide variant	NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)	MYO7A	Pathogenic	11	76883896	76883896	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278635
Insertion	NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)	MYO7A	Likely pathogenic	11	76885818	76885819	T	TAG	criteria provided, single submitter	ClinGen:CA278637
single nucleotide variant	NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter)	MYO7A	Pathogenic	11	76885829	76885829	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278638
single nucleotide variant	NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76885871	76885871	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278640
single nucleotide variant	NM_000260.4(MYO7A):c.2094+1G>A	MYO7A	Pathogenic/Likely pathogenic	11	76885961	76885961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278642
single nucleotide variant	NM_000260.4(MYO7A):c.2094+1G>C	MYO7A	Likely pathogenic	11	76885961	76885961	G	C	criteria provided, single submitter	ClinGen:CA278643
Deletion	NM_000260.4(MYO7A):c.2172del (p.Lys725fs)	MYO7A	Pathogenic	11	76886494	76886494	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278644
single nucleotide variant	NM_000260.4(MYO7A):c.2187+1G>A	MYO7A	Pathogenic/Likely pathogenic	11	76886511	76886511	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278645

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