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_000260.4(MYO7A):c.6231dup (p.Lys2078fs)	MYO7A	Pathogenic	11	76922374	76922375	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA278745
Deletion	NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs)	CDH23	Pathogenic	10	73565668	73565675	GGACTGGGA	G	criteria provided, single submitter	ClinGen:CA273609
Deletion	NM_002906.4(RDX):c.1308del (p.Lys438fs)	RDX	Pathogenic	11	110106860	110106860	TC	T	criteria provided, single submitter	ClinGen:CA273599
Deletion	NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)	ESRRB	Likely pathogenic	14	76967038	76967064	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76919517	76919517	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278734
single nucleotide variant	NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)	MYO7A	Likely pathogenic	11	76922954	76922954	C	T	reviewed by expert panel	ClinGen:CA278724
single nucleotide variant	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	GJB2	Pathogenic/Likely pathogenic	13	20763342	20763342	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA176158
single nucleotide variant	NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)	GJB2	Likely pathogenic	13	20763545	20763545	C	T	criteria provided, single submitter	ClinGen:CA273153
Deletion	NM_004452.3(ESRRB):c.(?_1)_(1527_?)del	ESRRB	Likely pathogenic	14	76905697	76967064	na	na	criteria provided, single submitter	-
Deletion	NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del	STRC	Pathogenic	15	43892948	43895799	na	na	criteria provided, single submitter	-

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