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_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)	ESPN	Pathogenic	1	6517284	6517301	TGGAGGCGGGACCTCCTGC	T	criteria provided, single submitter	OMIM:606351.0008
single nucleotide variant	NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	GJB2	Pathogenic	13	20763171	20763171	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)	GJB2	Pathogenic	13	20763247	20763247	G	C	criteria provided, single submitter	-
Deletion	NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)	PDZD7	Pathogenic	10	102778891	102778891	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter)	MYO15A	Likely pathogenic	17	18061930	18061930	C	T	criteria provided, single submitter	-
Duplication	NM_000307.5(POU3F4):c.249dup (p.Gly84fs)	POU3F4	Pathogenic	X	82763578	82763579	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	PJVK	Pathogenic	2	179319253	179319253	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)	SLC26A4	Likely pathogenic	7	107312595	107312595	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)	MYO7A	Likely pathogenic	11	76858958	76858958	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	COL11A1	Pathogenic	1	103355079	103355079	C	A	criteria provided, single submitter	-

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