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_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)	COL11A2	Pathogenic/Likely pathogenic	6	33139540	33139540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257707,OMIM:120290.0005
single nucleotide variant	NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)	COL11A2	Pathogenic/Likely pathogenic	6	33135082	33135082	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281690,OMIM:120290.0008
single nucleotide variant	NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	COL11A2	Pathogenic	6	33135599	33135599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA127099,OMIM:120290.0009
Deletion	NM_080680.3(COL11A2):c.3962del	COL11A2	Pathogenic	6	33135628	33135628	AC	A	criteria provided, single submitter	OMIM:120290.0011
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_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	PCDH15	Pathogenic/Likely pathogenic	10	55943211	55943211	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253349,OMIM:605514.0010
single nucleotide variant	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2	Pathogenic/Likely pathogenic	13	20763686	20763686	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA172228