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_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)	MYO7A	Pathogenic	11	76901153	76901153	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278657,UniProtKB:Q13402#VAR_009337
Duplication	NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)	MYO7A	Pathogenic/Likely pathogenic	11	76901160	76901161	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278658
Deletion	NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)	MYO7A	Pathogenic/Likely pathogenic	11	76901754	76901754	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278659
single nucleotide variant	NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)	MYO7A	Pathogenic/Likely pathogenic	11	76867064	76867064	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278660
Duplication	NM_000260.4(MYO7A):c.397dup (p.His133fs)	MYO7A	Pathogenic/Likely pathogenic	11	76867057	76867058	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278662
single nucleotide variant	NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	MYO7A	Likely pathogenic	11	76867068	76867068	T	A	reviewed by expert panel	ClinGen:CA278663,UniProtKB:Q13402#VAR_024042
Deletion	NM_000260.4(MYO7A):c.4065del (p.His1355fs)	MYO7A	Likely pathogenic	11	76903236	76903236	AC	A	criteria provided, single submitter	ClinGen:CA278664
single nucleotide variant	NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76905539	76905539	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278665
single nucleotide variant	NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro)	MYO7A	Likely pathogenic	11	76908613	76908613	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278667
single nucleotide variant	NM_000260.4(MYO7A):c.4442-2A>C	MYO7A	Likely pathogenic	11	76909538	76909538	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA278669

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