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_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2	Pathogenic/Likely pathogenic	13	20763209	20763210	G	GCGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA274346
single nucleotide variant	NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763313	20763313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274369,OMIM:121011.0042,ClinVar:267367
Deletion	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2	Pathogenic/Likely pathogenic	13	20763386	20763387	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274322
Duplication	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2	Pathogenic	13	20763430	20763431	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA274000
single nucleotide variant	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	GJB2	Pathogenic/Likely pathogenic	13	20763475	20763475	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273919
single nucleotide variant	NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763491	20763491	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274460
single nucleotide variant	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763590	20763590	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274012,OMIM:121011.0040
single nucleotide variant	NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	GJB2	Likely pathogenic	13	20763602	20763602	G	C	criteria provided, single submitter	ClinGen:CA274135
single nucleotide variant	NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	GJB2	Pathogenic	13	20763627	20763627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273921
single nucleotide variant	NM_004004.6(GJB2):c.-23G>T	GJB2	Likely pathogenic	13	20766922	20766922	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274431