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.56G>C (p.Ser19Thr)	GJB2	Likely pathogenic	13	20763665	20763665	C	G	reviewed by expert panel	ClinGen:CA342005
single nucleotide variant	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	OTOF	Pathogenic	2	26702224	26702224	G	A	reviewed by expert panel	ClinGen:CA342562
Deletion	NM_194248.3(OTOF):c.2348del (p.Gly783fs)	OTOF	Pathogenic	2	26700342	26700342	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342565
single nucleotide variant	NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)	OTOF	Pathogenic/Likely pathogenic	2	26698886	26698886	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342566
single nucleotide variant	NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)	OTOF	Pathogenic	2	26690054	26690054	C	T	criteria provided, single submitter	ClinGen:CA342570
single nucleotide variant	NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)	ACTG1	Pathogenic	17	79478552	79478552	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P63261#VAR_067816,UniProtKB/Swiss-Prot:VAR_067816,OMIM:102560.0009,ClinGen:CA219950
single nucleotide variant	NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)	ACTG1	Pathogenic/Likely pathogenic	17	79478933	79478933	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219944,UniProtKB:P63261#VAR_067814,UniProtKB/Swiss-Prot:VAR_067814,OMIM:102560.0010
single nucleotide variant	NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)	ACTG1	Pathogenic/Likely pathogenic	17	79478612	79478612	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219948,UniProtKB:P63261#VAR_067815,UniProtKB/Swiss-Prot:VAR_067815,OMIM:102560.0011
single nucleotide variant	NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	ACTG1	Pathogenic/Likely pathogenic	17	79478256	79478256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219956,OMIM:102560.0013,UniProtKB:P63261#VAR_067818,UniProtKB/Swiss-Prot:VAR_067818
single nucleotide variant	NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)	ACTG1	Pathogenic	17	79478250	79478250	G	A	criteria provided, single submitter	ClinGen:CA219958,UniProtKB:P63261#VAR_067819,UniProtKB/Swiss-Prot:VAR_067819,OMIM:102560.0014