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_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2	Pathogenic/Likely pathogenic	13	20763626	20763626	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904322
Deletion	NM_001145026.2(PTPRQ):c.3867_3871del (p.Tyr1289_Lys1291delinsTer)	PTPRQ	Pathogenic	12	80936650	80936654	ATATAT	A	criteria provided, single submitter	ClinGen:CA658797937
single nucleotide variant	NM_001378609.3(OTOGL):c.3635-2A>G	OTOGL	Likely pathogenic	12	80712324	80712324	A	G	criteria provided, single submitter	ClinGen:CA385866940
single nucleotide variant	NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)	MYO15A	Pathogenic/Likely pathogenic	17	18024743	18024743	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398584770
Deletion	NM_013296.5(GPSM2):c.485del (p.Pro162fs)	GPSM2	Pathogenic	1	109440649	109440649	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA982810
Deletion	NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	MYO15A	Likely pathogenic	17	18023248	18023248	TC	T	reviewed by expert panel	ClinGen:CA8423030
single nucleotide variant	NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)	USH1C	Pathogenic/Likely pathogenic	11	17542939	17542939	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5904739
single nucleotide variant	NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)	MYO7A	Pathogenic	11	76919562	76919562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6198875
single nucleotide variant	NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)	COL11A2	Pathogenic	6	33136512	33136512	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3750328
single nucleotide variant	NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	DCDC2	Pathogenic/Likely pathogenic	6	24302238	24302238	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA136637337,OMIM:605755.0009