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_022124.6(CDH23):c.1675C>T (p.Pro559Ser)	CDH23	Likely pathogenic	10	73437373	73437373	C	T	criteria provided, single submitter	ClinGen:CA16609570
single nucleotide variant	NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)	CDH23	Pathogenic/Likely pathogenic	10	73545424	73545424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609572
single nucleotide variant	NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	CDH23	Likely pathogenic	10	73567059	73567059	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609573
single nucleotide variant	NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter)	TECTA	Pathogenic	11	121031011	121031011	C	A	criteria provided, single submitter	ClinGen:CA16609574
Deletion	NM_000260.4(MYO7A):c.2307del (p.Asn769fs)	MYO7A	Pathogenic	11	76890115	76890115	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609575
single nucleotide variant	NM_000260.4(MYO7A):c.4153-2A>G	MYO7A	Pathogenic	11	76905397	76905397	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609576
single nucleotide variant	NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76922341	76922341	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609577
single nucleotide variant	NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter)	MYO7A	Pathogenic	11	76922356	76922356	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609578
single nucleotide variant	NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	MYO7A	Pathogenic/Likely pathogenic	11	76924953	76924953	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6199094
single nucleotide variant	NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)	MYO15A	Likely pathogenic	17	18035800	18035800	G	A	criteria provided, single submitter	ClinGen:CA16609582

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