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_138691.3(TMC1):c.1236del (p.Met413fs)	TMC1	Pathogenic	9	75406812	75406812	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576753
single nucleotide variant	NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter)	TMC1	Pathogenic	9	75420407	75420407	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576754
single nucleotide variant	NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter)	TMC1	Pathogenic	9	75420408	75420408	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576755
single nucleotide variant	NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)	TMC1	Pathogenic/Likely pathogenic	9	75435933	75435933	T	C	criteria provided, multiple submitters, no conflicts	ClinVar:424812,ClinVar:424813,ClinVar:424814,ClinGen:CA5082097
Deletion	NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del	PCDH15	Pathogenic	10	55663003	55663130	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_017433.5(MYO3A):c.4545+1G>C	MYO3A	Likely pathogenic	10	26482241	26482241	G	C	criteria provided, single submitter	ClinGen:CA10576787
single nucleotide variant	NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)	PCDH15	Pathogenic	10	55698590	55698590	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576793
single nucleotide variant	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23	Likely pathogenic	10	73270920	73270920	A	G	reviewed by expert panel	ClinGen:CA10576804
single nucleotide variant	NM_022124.6(CDH23):c.1449+1G>T	CDH23	Pathogenic	10	73406375	73406375	G	T	criteria provided, single submitter	ClinGen:CA10576806
Duplication	NM_022124.6(CDH23):c.1949dup (p.Leu651fs)	CDH23	Pathogenic	10	73442286	73442287	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576807

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