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_022124.6(CDH23):c.4488G>C (p.Gln1496His)	CDH23	Pathogenic	10	73499529	73499529	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253319,OMIM:605516.0001
single nucleotide variant	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23	Pathogenic	10	73539073	73539073	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253321,OMIM:605516.0002
single nucleotide variant	NM_022124.6(CDH23):c.7362+5G>A	CDH23	Pathogenic	10	73559391	73559391	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253325,OMIM:605516.0004
single nucleotide variant	NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)	CDH23	Likely pathogenic	10	73553289	73553289	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253328,OMIM:605516.0006
single nucleotide variant	NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)	CDH23	Pathogenic	10	73491908	73491908	C	T	criteria provided, single submitter	ClinGen:CA253330,OMIM:605516.0007
single nucleotide variant	NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	CDH23	Pathogenic/Likely pathogenic	10	73492049	73492049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253334,OMIM:605516.0009
single nucleotide variant	NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)	CDH23	Pathogenic	10	73544808	73544808	T	C	criteria provided, single submitter	ClinGen:CA253336,OMIM:605516.0010
Deletion	NM_022124.6(CDH23):c.193del (p.Leu65fs)	CDH23	Pathogenic	10	73269882	73269882	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212824,OMIM:605516.0011
single nucleotide variant	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	CDH23	Pathogenic	10	73330641	73330641	C	T	reviewed by expert panel	ClinGen:CA253338,OMIM:605516.0014
single nucleotide variant	NM_001384140.1(PCDH15):c.3718-2A>G	PCDH15	Pathogenic	10	55617025	55617025	T	C	criteria provided, single submitter	OMIM:605514.0001

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