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_002473.6(MYH9):c.5800del (p.Met1934fs)	MYH9	Likely pathogenic	22	36678797	36678797	AT	A	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs)	MYH9	Pathogenic	22	36678818	36678827	GGCAGGTCCCC	G	criteria provided, single submitter	-
Deletion	NM_002473.6(MYH9):c.2668del (p.Gln890fs)	MYH9	Likely pathogenic	22	36697067	36697067	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9	Pathogenic/Likely pathogenic	22	36701983	36701983	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)	MYH9	Likely pathogenic	22	36714360	36714360	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9	Pathogenic/Likely pathogenic	22	36744999	36744999	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)	MYH9	Likely pathogenic	22	36745062	36745062	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)	MYH9	Likely pathogenic	22	36745185	36745185	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)	COL11A1	Likely pathogenic	1	103428261	103428261	C	T	criteria provided, single submitter	-
Deletion	NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)	COL11A1	Likely pathogenic	1	103470193	103470201	GGAGGACCTT	G	criteria provided, single submitter	-

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