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_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1	Pathogenic/Likely pathogenic	4	6279306	6279306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274502
single nucleotide variant	NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)	CLDN14	Pathogenic/Likely pathogenic	21	37833752	37833752	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:O95500#VAR_069979,OMIM:605608.0005,ClinGen:CA199222
single nucleotide variant	NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)	CLDN14	Pathogenic	21	37833827	37833827	C	T	criteria provided, single submitter	ClinGen:CA199223,OMIM:605608.0004
single nucleotide variant	NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)	GJB2	Pathogenic	13	20763256	20763256	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275075
single nucleotide variant	NM_022124.6(CDH23):c.146-2A>G	CDH23	Pathogenic	10	73269837	73269837	A	G	criteria provided, single submitter	ClinGen:CA275263
single nucleotide variant	NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76919765	76919765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278748
single nucleotide variant	NM_015404.4(WHRN):c.1417-1G>A	WHRN	Pathogenic/Likely pathogenic	9	117185804	117185804	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275406
Duplication	NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)	MYO15A	Pathogenic	17	18025419	18025420	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA275491
single nucleotide variant	NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)	MYH9	Likely pathogenic	22	36688036	36688036	T	A	criteria provided, single submitter	ClinGen:CA347309
single nucleotide variant	NM_002241.5(KCNJ10):c.-1+1G>T	KCNJ10	Likely pathogenic	1	160039811	160039811	C	A	criteria provided, single submitter	ClinGen:CA315277