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.353A>T (p.Lys118Met)	ACTG1	Pathogenic	17	79478939	79478939	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA258156,UniProtKB:P63261#VAR_032435,OMIM:102560.0002
single nucleotide variant	NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)	ACTG1	Pathogenic	17	79478225	79478225	G	A	criteria provided, single submitter	ClinGen:CA258160,UniProtKB:P63261#VAR_032436,OMIM:102560.0004
single nucleotide variant	NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)	ACTG1	Pathogenic	17	79478104	79478104	G	A	criteria provided, single submitter	ClinGen:CA258162,UniProtKB:P63261#VAR_032437,OMIM:102560.0005
single nucleotide variant	NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	ACTG1	Likely pathogenic	17	79478295	79478295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219954,UniProtKB:P63261#VAR_067826,UniProtKB/Swiss-Prot:VAR_067826,OMIM:102560.0008
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
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