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
single nucleotide variant	NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp)	COL11A1	Likely pathogenic	1	103455099	103455099	C	T	criteria provided, single submitter	ClinGen:CA10606522
single nucleotide variant	NM_001854.4(COL11A1):c.4554+1G>C	COL11A1	Pathogenic/Likely pathogenic	1	103354278	103354278	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606524
single nucleotide variant	NM_024915.4(GRHL2):c.1098+1G>A	GRHL2	Likely pathogenic	8	102611380	102611380	G	A	criteria provided, single submitter	ClinGen:CA10606599
Duplication	NM_004817.4(TJP2):c.498dup (p.Arg167fs)	TJP2	Pathogenic	9	71835952	71835953	T	TG	criteria provided, single submitter	ClinGen:CA5073019
single nucleotide variant	NM_016239.4(MYO15A):c.6178-1G>A	MYO15A	Pathogenic	17	18047810	18047810	G	A	criteria provided, single submitter	ClinGen:CA10606638
single nucleotide variant	NM_006005.3(WFS1):c.937C>T (p.His313Tyr)	WFS1	Likely pathogenic	4	6302459	6302459	C	T	criteria provided, single submitter	ClinGen:CA10606914
Indel	NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)	COL11A2	Pathogenic/Likely pathogenic	6	33144528	33144532	CTTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606941
single nucleotide variant	NM_001378609.3(OTOGL):c.3103C>T (p.Gln1035Ter)	OTOGL	Pathogenic	12	80696453	80696453	C	T	criteria provided, single submitter	ClinGen:CA10607013
single nucleotide variant	NM_001378609.3(OTOGL):c.3213+1G>A	OTOGL	Likely pathogenic	12	80696564	80696564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6700982
single nucleotide variant	NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44219648	44219648	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10607035

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