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_004100.5(EYA4):c.1221_1225del (p.Arg408fs)	EYA4	Pathogenic	6	133827273	133827277	TCCGCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)	TBC1D24	Pathogenic	16	2548386	2548386	C	G	criteria provided, single submitter	-
Indel	NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)	TSPEAR	Pathogenic/Likely pathogenic	21	45929108	45929110	GAC	AA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	KCNQ4	Pathogenic	1	41249905	41249905	T	C	criteria provided, single submitter	-
Deletion	NM_005797.4(MPZL2):c.72del (p.Ile24fs)	MPZL2	Pathogenic/Likely pathogenic	11	118133799	118133799	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:604873.0001
single nucleotide variant	NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	MPZL2	Pathogenic	11	118133651	118133651	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:800646,OMIM:604873.0002
single nucleotide variant	NM_022124.6(CDH23):c.945+1G>A	CDH23	Pathogenic/Likely pathogenic	10	73375374	73375374	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.4210-2A>G	CDH23	Pathogenic/Likely pathogenic	10	73498253	73498253	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001292063.2(OTOG):c.3409-2A>G	OTOG	Likely pathogenic	11	17617583	17617583	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)	GJB2	Likely pathogenic	13	20763525	20763525	C	A	criteria provided, single submitter	-

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