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
Deletion	NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)	PCDH15	Likely pathogenic	10	55955581	55955581	TG	T	criteria provided, single submitter	-
Deletion	NM_005422.4(TECTA):c.5235del (p.Ile1746fs)	TECTA	Likely pathogenic	11	121033040	121033040	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly)	TECTA	Likely pathogenic	11	121038838	121038838	A	G	criteria provided, single submitter	-
Duplication	NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs)	OTOG	Pathogenic/Likely pathogenic	11	17632767	17632768	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001378609.3(OTOGL):c.39G>A (p.Trp13Ter)	OTOGL	Likely pathogenic	12	80603250	80603250	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)	OTOGL	Pathogenic/Likely pathogenic	12	80645498	80645498	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001378609.3(OTOGL):c.4601-2A>G	OTOGL	Likely pathogenic	12	80730191	80730191	A	G	criteria provided, single submitter	-
Deletion	NM_001378609.3(OTOGL):c.5020_5024del (p.Asn1674fs)	OTOGL	Likely pathogenic	12	80733012	80733016	TTTAAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_153700.2(STRC):c.4375+1G>A	STRC	Pathogenic	15	43896193	43896193	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_153700.2(STRC):c.2141T>C (p.Leu714Pro)	STRC	Likely pathogenic	15	43906667	43906667	A	G	criteria provided, single submitter	-

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