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_004004.6(GJB2):c.175G>C (p.Gly59Arg)	GJB2	Pathogenic	13	20763546	20763546	C	G	criteria provided, single submitter	ClinGen:CA387461703
single nucleotide variant	NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter)	OTOG	Pathogenic	11	17574667	17574667	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA218489735
single nucleotide variant	NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)	LOXHD1	Pathogenic	18	44065034	44065034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402366311
Deletion	NM_001042702.5(PJVK):c.515_516del (p.Ser172fs)	PJVK	Pathogenic	2	179320843	179320844	GTC	G	criteria provided, single submitter	ClinGen:CA658795963
Duplication	NM_080680.3(COL11A2):c.1719+3dup	COL11A2	Likely pathogenic	6	33146452	33146453	T	TC	criteria provided, single submitter	ClinGen:CA658796737
Deletion	NM_001146079.2(CLDN14):c.401del (p.Val134fs)	CLDN14	Likely pathogenic	21	37833593	37833593	CA	C	criteria provided, single submitter	ClinGen:CA658799424
single nucleotide variant	NM_005422.4(TECTA):c.1893C>A (p.Cys631Ter)	TECTA	Pathogenic	11	120998579	120998579	C	A	criteria provided, single submitter	ClinGen:CA383013534
Deletion	NM_033109.5(PNPT1):c.1661del (p.Ile554fs)	PNPT1	Likely pathogenic	2	55873563	55873563	TA	T	criteria provided, single submitter	ClinGen:CA658795798
single nucleotide variant	NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)	TECTA	Pathogenic	11	121039461	121039461	C	A	criteria provided, single submitter	ClinGen:CA229853292
single nucleotide variant	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)	TECTA	Pathogenic	11	121016805	121016805	G	A	reviewed by expert panel	ClinGen:CA6327349

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