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
Duplication	NM_015404.4(WHRN):c.680dup (p.Tyr228fs)	WHRN	Pathogenic	9	117240989	117240990	G	GC	criteria provided, single submitter	OMIM:607928.0005
Deletion	NM_013296.5(GPSM2):c.742del (p.Gly249fs)	GPSM2	Pathogenic/Likely pathogenic	1	109441560	109441560	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213046,OMIM:609245.0004
single nucleotide variant	NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	GPSM2	Pathogenic/Likely pathogenic	1	109466682	109466682	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129927,OMIM:609245.0005
single nucleotide variant	NM_013296.5(GPSM2):c.1062+1G>T	GPSM2	Pathogenic	1	109445857	109445857	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213047,OMIM:609245.0006
single nucleotide variant	NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)	MYH9	Pathogenic	22	36688106	36688106	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343280,UniProtKB:P35579#VAR_018317
single nucleotide variant	NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)	CIB2	Likely pathogenic	15	78401651	78401651	A	G	criteria provided, single submitter	ClinGen:CA130456,UniProtKB:O75838#VAR_069087,OMIM:605564.0001
single nucleotide variant	NM_001854.4(COL11A1):c.3816+1G>A	COL11A1	Pathogenic	1	103381186	103381186	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281108,OMIM:120280.0002,OMIM:120280.0012
Deletion	NM_001378609.3(OTOGL):c.1457del (p.Val486fs)	OTOGL	Pathogenic	12	80648835	80648835	GT	G	criteria provided, single submitter	OMIM:614925.0001
single nucleotide variant	NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)	OTOGL	Pathogenic	12	80623121	80623121	C	T	criteria provided, single submitter	ClinGen:CA130552,OMIM:614925.0002
Deletion	NM_001292063.2(OTOG):c.5472del (p.Ala1826fs)	OTOG	Pathogenic	11	17632316	17632316	GC	G	criteria provided, single submitter	OMIM:604487.0001