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.605G>T (p.Cys202Phe)	GJB2	Likely pathogenic	13	20763116	20763116	C	A	criteria provided, single submitter	ClinGen:CA257678,UniProtKB:P29033#VAR_015944,OMIM:121011.0018
single nucleotide variant	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	GJB2	Pathogenic	13	20763573	20763573	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA127027,UniProtKB:P29033#VAR_015456,OMIM:121011.0020
single nucleotide variant	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2	Pathogenic	13	20763612	20763612	C	T	reviewed by expert panel	ClinGen:CA172210,UniProtKB:P29033#VAR_002139,OMIM:121011.0023
single nucleotide variant	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2	Pathogenic	13	20763497	20763497	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA127030,UniProtKB:P29033#VAR_015936,OMIM:121011.0026
single nucleotide variant	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Pathogenic/Likely pathogenic	13	20766921	20766921	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172205,OMIM:121011.0029
single nucleotide variant	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2	Pathogenic	13	20763471	20763471	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA172218,UniProtKB:P29033#VAR_002143,OMIM:121011.0032
single nucleotide variant	NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	GJB2	Pathogenic/Likely pathogenic	13	20763587	20763587	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:267367,ClinGen:CA127033,UniProtKB:P29033#VAR_015455,OMIM:121011.0033,OMIM:121011.0042
single nucleotide variant	NM_004004.6(GJB2):c.250G>A (p.Val84Met)	GJB2	Pathogenic	13	20763471	20763471	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257683,UniProtKB:P29033#VAR_060800,OMIM:121011.0037
single nucleotide variant	NM_080680.3(COL11A2):c.4392+1G>A	COL11A2	Pathogenic	6	33134289	33134289	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281687,OMIM:120290.0001
single nucleotide variant	NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)	COL11A2	Pathogenic	6	33144993	33144993	C	T	criteria provided, single submitter	ClinGen:CA127087,OMIM:120290.0002