遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

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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_031475.3(ESPN):c.2446G>T (p.Glu816Ter)	ESPN	Likely pathogenic	1	6520087	6520087	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)	EYA4	Likely pathogenic	6	133834022	133834022	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter)	CDH23	Likely pathogenic	10	73565751	73565751	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter)	OTOG	Likely pathogenic	11	17660062	17660062	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)	STRC	Likely pathogenic	15	43895442	43895442	G	A	criteria provided, single submitter	-
Deletion	NM_144672.4(OTOA):c.2295del (p.Thr766fs)	OTOA	Likely pathogenic	16	21742244	21742244	GC	G	criteria provided, single submitter	-
Duplication	NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)	MYO15A	Pathogenic	17	18023284	18023285	G	GGCCATCT	reviewed by expert panel	-
Deletion	NM_080680.3(COL11A2):c.4220del (p.Lys1407fs)	COL11A2	Likely pathogenic	6	33134857	33134857	CT	C	criteria provided, single submitter	-
Deletion	NM_022124.6(CDH23):c.6449del (p.Gly2150fs)	CDH23	Pathogenic/Likely pathogenic	10	73553131	73553131	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter)	CDH23	Likely pathogenic	10	73571339	73571339	C	G	criteria provided, single submitter	-