遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

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_002764.4(PRPS1):c.307-2A>G	PRPS1	Pathogenic	X	106884130	106884130	A	G	criteria provided, single submitter	ClinGen:CA413806127
single nucleotide variant	NM_001378609.3(OTOGL):c.6122-1G>A	OTOGL	Pathogenic	12	80752450	80752450	G	A	criteria provided, single submitter	ClinGen:CA385888646
single nucleotide variant	NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)	DIAPH1	Pathogenic	5	140961936	140961936	G	T	criteria provided, single submitter	ClinGen:CA361540052
single nucleotide variant	NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)	CDH23	Likely pathogenic	10	73461791	73461791	G	A	criteria provided, single submitter	ClinGen:CA377137461
Deletion	NM_022124.6(CDH23):c.8239del (p.Val2747fs)	CDH23	Pathogenic	10	73567094	73567094	CG	C	criteria provided, single submitter	ClinGen:CA658797437
Duplication	NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)	MYO15A	Pathogenic/Likely pathogenic	17	18022527	18022528	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798737
Deletion	NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs)	GPSM2	Pathogenic	1	109465142	109465149	AACTGCCAT	A	criteria provided, single submitter	ClinGen:CA658795499
single nucleotide variant	NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	WFS1	Pathogenic	4	6290728	6290728	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356171265
Deletion	NM_024678.6(NARS2):c.10del (p.Val4fs)	NARS2	Pathogenic	11	78285524	78285524	AC	A	criteria provided, single submitter	ClinGen:CA658797710
single nucleotide variant	NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)	COCH	Likely pathogenic	14	31355191	31355191	C	T	criteria provided, single submitter	ClinGen:CA7143275