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_001384474.1(LOXHD1):c.4921del (p.Ala1641fs)	LOXHD1	Pathogenic	18	44102228	44102228	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter)	LOXHD1	Pathogenic	18	44113218	44113218	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.1506G>A (p.Trp502Ter)	LOXHD1	Pathogenic	18	44172473	44172473	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44172511	44172511	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001384474.1(LOXHD1):c.734dup (p.Ser246fs)	LOXHD1	Pathogenic	18	44190763	44190764	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.2034+1G>A	SLC26A4	Likely pathogenic	7	107342503	107342503	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1708-1G>T	SLC26A4	Likely pathogenic	7	107341545	107341545	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT	CDH23	Pathogenic/Likely pathogenic	10	73493993	73493995	GCA	TCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.9320-1G>A	CDH23	Likely pathogenic	10	73571711	73571711	G	A	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_77166046)_(77177653_?)del	MYO7A	Pathogenic	11	76877092	76888699	na	na	criteria provided, single submitter	-

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