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.7054+1G>A	CDH23	Likely pathogenic	10	73558336	73558336	G	A	criteria provided, single submitter	ClinGen:CA16605679
single nucleotide variant	NM_022124.6(CDH23):c.7660+1G>T	CDH23	Pathogenic	10	73562833	73562833	G	T	criteria provided, single submitter	ClinGen:CA16605685
single nucleotide variant	NM_005422.4(TECTA):c.5941T>A (p.Tyr1981Asn)	TECTA	Pathogenic	11	121039576	121039576	T	A	criteria provided, single submitter	ClinGen:CA16605870
single nucleotide variant	NM_001384140.1(PCDH15):c.4035T>A (p.Tyr1345Ter)	PCDH15	Pathogenic	10	55591242	55591242	A	T	criteria provided, single submitter	ClinGen:CA16605875
single nucleotide variant	NM_001384140.1(PCDH15):c.1997+1G>A	PCDH15	Pathogenic/Likely pathogenic	10	55849743	55849743	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5506182
single nucleotide variant	NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)	NARS2	Pathogenic/Likely pathogenic	11	78204204	78204204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606340
single nucleotide variant	NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)	NARS2	Pathogenic	11	78277273	78277273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606341
single nucleotide variant	NM_000899.5(KITLG):c.108T>A (p.Asn36Lys)	KITLG	Pathogenic	12	88939550	88939550	A	T	criteria provided, single submitter	ClinGen:CA16606383
single nucleotide variant	NM_001384140.1(PCDH15):c.3984-1G>C	PCDH15	Pathogenic/Likely pathogenic	10	55591294	55591294	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606664
single nucleotide variant	NM_016239.4(MYO15A):c.9876G>A (p.Trp3292Ter)	MYO15A	Pathogenic	17	18069763	18069763	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607541

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