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
Duplication	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2	Pathogenic	13	20763451	20763452	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273448
single nucleotide variant	NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	GJB2	Pathogenic/Likely pathogenic	13	20763482	20763482	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273446
single nucleotide variant	NM_004004.6(GJB2):c.109G>T (p.Val37Phe)	GJB2	Likely pathogenic	13	20763612	20763612	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273605
Deletion	NM_153700.2(STRC):c.(?_4702)_(4993_?)del	STRC	Pathogenic	15	43892732	43893212	na	na	criteria provided, single submitter	-
Deletion	NM_144672.3(OTOA):c.(?_2302)_(2431_?)del	OTOA	Pathogenic	16	21747582	21747711	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144672.4(OTOA):c.1688+1G>T	OTOA	Pathogenic	16	21730513	21730513	G	T	criteria provided, single submitter	ClinGen:CA273209
single nucleotide variant	NM_144672.4(OTOA):c.1880+1G>A	OTOA	Pathogenic/Likely pathogenic	16	21734300	21734300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273210
Deletion	NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs)	ESRRB	Likely pathogenic	14	76964704	76964708	ACGGCC	A	criteria provided, single submitter	ClinGen:CA273574
Deletion	NM_153700.2(STRC):c.(?_1)_(5328_?)del	STRC	Pathogenic	15	43891870	43910920	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)	STRC	Pathogenic/Likely pathogenic	15	43892209	43892209	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273230

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