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
Deletion	NM_016239.4(MYO15A):c.2311del (p.Ser771fs)	MYO15A	Pathogenic	17	18024425	18024425	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8423244
single nucleotide variant	NM_016239.4(MYO15A):c.8341-2A>C	MYO15A	Pathogenic	17	18058626	18058626	A	C	criteria provided, single submitter	ClinGen:CA8425138
single nucleotide variant	NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)	TMPRSS3	Pathogenic/Likely pathogenic	21	43809050	43809050	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10042687
single nucleotide variant	NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)	MYO7A	Pathogenic	11	76853788	76853788	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381947603
single nucleotide variant	NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)	MYO7A	Pathogenic	11	76872076	76872076	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197439
single nucleotide variant	NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)	ACTG1	Likely pathogenic	17	79478399	79478399	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA401460425
single nucleotide variant	NM_004004.6(GJB2):c.172C>T (p.Pro58Ser)	GJB2	Likely pathogenic	13	20763549	20763549	G	A	criteria provided, single submitter	ClinGen:CA387461710
single nucleotide variant	NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter)	OTOG	Pathogenic/Likely pathogenic	11	17655765	17655765	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA218498003
single nucleotide variant	NM_016239.4(MYO15A):c.9083+6T>A	MYO15A	Pathogenic	17	18061958	18061958	T	A	criteria provided, single submitter	ClinGen:CA658798724
single nucleotide variant	NM_001854.4(COL11A1):c.1629+1G>A	COL11A1	Likely pathogenic	1	103477968	103477968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA341177105