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
Indel	NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)	SLC26A4	Pathogenic	7	107302216	107302216	A	TTG	criteria provided, single submitter	-
Deletion	NM_000441.2(SLC26A4):c.1692del (p.Lys564fs)	SLC26A4	Pathogenic	7	107340600	107340600	TA	T	criteria provided, single submitter	-
Deletion	NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	MYO3A	Pathogenic	10	26377141	26377142	CAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001384140.1(PCDH15):c.3946del (p.Gln1316fs)	PCDH15	Pathogenic	10	55600117	55600117	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)	PCDH15	Pathogenic	10	55626458	55626458	G	A	criteria provided, single submitter	-
Duplication	NM_001384140.1(PCDH15):c.1475dup (p.Val493fs)	PCDH15	Pathogenic	10	55943318	55943319	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55955539	55955539	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001384140.1(PCDH15):c.366del (p.Asn122fs)	PCDH15	Pathogenic	10	56128988	56128988	TG	T	criteria provided, single submitter	-
Deletion	NM_022124.6(CDH23):c.2329_2330del (p.Thr777fs)	CDH23	Pathogenic	10	73455213	73455214	CCA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_022124.6(CDH23):c.6344del (p.Arg2115fs)	CDH23	Pathogenic	10	73553029	73553029	CG	C	criteria provided, single submitter	-