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_001614.5(ACTG1):c.457A>G (p.Met153Val)	ACTG1	Likely pathogenic	17	79478559	79478559	T	C	criteria provided, single submitter	ClinGen:CA401461116
single nucleotide variant	NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)	ACTG1	Likely pathogenic	17	79478405	79478405	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA401460450
single nucleotide variant	NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)	ACTG1	Likely pathogenic	17	79478586	79478586	C	T	criteria provided, single submitter	ClinGen:CA401461230
single nucleotide variant	NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln)	ACTG1	Likely pathogenic	17	79478379	79478379	T	G	criteria provided, single submitter	ClinGen:CA16607875
single nucleotide variant	NM_001614.5(ACTG1):c.43G>C (p.Gly15Arg)	ACTG1	Likely pathogenic	17	79479338	79479338	C	G	criteria provided, single submitter	ClinGen:CA16043020
single nucleotide variant	NM_001614.5(ACTG1):c.131T>A (p.Met44Lys)	ACTG1	Likely pathogenic	17	79479161	79479161	A	T	criteria provided, single submitter	ClinGen:CA10603616
single nucleotide variant	NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly)	ACTG1	Likely pathogenic	17	79478074	79478074	T	C	criteria provided, single submitter	ClinGen:CA10603415
single nucleotide variant	NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile)	ACTG1	Likely pathogenic	17	79478418	79478418	A	T	criteria provided, single submitter	ClinGen:CA213201
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
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