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_016239.4(MYO15A):c.2258_2259del (p.Ala753fs)	MYO15A	Pathogenic	17	18024371	18024372	GGC	G	criteria provided, single submitter	ClinGen:CA658798739
single nucleotide variant	NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)	MYO15A	Pathogenic	17	18025619	18025619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8423477
single nucleotide variant	NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)	OTOGL	Pathogenic/Likely pathogenic	12	80655799	80655799	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6700627
single nucleotide variant	NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	COL11A1	Pathogenic/Likely pathogenic	1	103354286	103354286	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341212387
Deletion	NM_000260.4(MYO7A):c.4225del (p.Leu1409fs)	MYO7A	Pathogenic	11	76905470	76905470	GC	G	criteria provided, single submitter	ClinGen:CA658797711
single nucleotide variant	NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter)	MYO7A	Pathogenic	11	76858844	76858844	G	T	criteria provided, single submitter	ClinGen:CA6197057
Deletion	NM_001039141.3(TRIOBP):c.251_254+22del	TRIOBP	Pathogenic	22	38106560	38106585	GCCAGGGCCCAAGAGGTGGGTAGAGTC	G	criteria provided, single submitter	ClinGen:CA658799544
Deletion	NM_004817.4(TJP2):c.782del (p.Tyr261fs)	TJP2	Pathogenic	9	71836242	71836242	TA	T	criteria provided, single submitter	ClinGen:CA5073097
single nucleotide variant	NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)	STRC	Pathogenic	15	43893077	43893077	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392162555
single nucleotide variant	NM_004100.5(EYA4):c.1341-2A>G	EYA4	Likely pathogenic	6	133834014	133834014	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA365714851

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