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.71G>A (p.Trp24Ter)	GJB2	Pathogenic	13	20763650	20763650	C	T	reviewed by expert panel	ClinGen:CA172240,OMIM:121011.0003
single nucleotide variant	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2	Pathogenic	13	20763492	20763492	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222246,UniProtKB:P29033#VAR_002141,OMIM:121011.0004
Deletion	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2	Pathogenic	13	20763686	20763686	AC	A	reviewed by expert panel	OMIM:121011.0005,ClinGen:CA127023
single nucleotide variant	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2	Pathogenic	13	20763582	20763582	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172213,OMIM:121011.0006
single nucleotide variant	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2	Pathogenic	13	20763294	20763294	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172234,UniProtKB:P29033#VAR_015460,OMIM:121011.0009
Deletion	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2	Pathogenic	13	20763554	20763554	CA	C	reviewed by expert panel	ClinGen:CA172217,OMIM:121011.0010
single nucleotide variant	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	GJB2	Pathogenic	13	20763498	20763498	G	A	criteria provided, multiple submitters, no conflicts	OMIM:121011.0011,ClinGen:CA257676,UniProtKB:P29033#VAR_002140
Deletion	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2	Pathogenic	13	20763486	20763486	AG	A	reviewed by expert panel	ClinGen:CA127025,OMIM:121011.0014
single nucleotide variant	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2	Pathogenic	13	20763452	20763452	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA172219,UniProtKB:P29033#VAR_015937,OMIM:121011.0016
single nucleotide variant	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2	Pathogenic/Likely pathogenic	13	20763293	20763293	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257677,UniProtKB:P29033#VAR_015940,OMIM:121011.0017