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_153700.2(STRC):c.4796_4800del (p.Cys1599fs)	STRC	Pathogenic	15	43893114	43893118	GTCCAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273232
single nucleotide variant	NM_153700.2(STRC):c.4701+1G>A	STRC	Pathogenic/Likely pathogenic	15	43893593	43893593	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273233
single nucleotide variant	NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	STRC	Likely pathogenic	15	43895560	43895560	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA178047
single nucleotide variant	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC	Pathogenic/Likely pathogenic	15	43896606	43896606	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273236,ClinVar:424817
Deletion	NM_153700.2(STRC):c.3484del (p.Trp1162fs)	STRC	Pathogenic	15	43902524	43902524	CA	C	criteria provided, single submitter	ClinGen:CA273644
Deletion	NM_144672.3(OTOA):c.(?_1)_(3420_?)del	OTOA	Pathogenic	16	21689836	21771861	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter)	ESRRB	Likely pathogenic	14	76964660	76964660	G	A	criteria provided, single submitter	ClinGen:CA273150
Deletion	NM_153700.2(STRC):c.(?_3795)_(4993_?)del	STRC	Pathogenic	15	43892732	43897597	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	STRC	Pathogenic	15	43895583	43895583	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273649
single nucleotide variant	NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter)	STRC	Pathogenic	15	43896582	43896582	C	A	criteria provided, single submitter	ClinGen:CA273234

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