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_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)	TBC1D24	Pathogenic	16	2546207	2546207	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7843914
single nucleotide variant	NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter)	TBC1D24	Likely pathogenic	16	2546341	2546341	C	A	criteria provided, single submitter	ClinGen:CA16620168
Duplication	NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)	TBC1D24	Pathogenic/Likely pathogenic	16	2550324	2550325	C	CCAAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620171
single nucleotide variant	NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)	TBC1D24	Pathogenic/Likely pathogenic	16	2550465	2550465	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620172,OMIM:613577.0018
single nucleotide variant	NM_016239.4(MYO15A):c.4032+1G>A	MYO15A	Pathogenic	17	18030480	18030480	G	A	criteria provided, single submitter	ClinGen:CA16620345
single nucleotide variant	NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)	MYO15A	Pathogenic	17	18039061	18039061	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8423922
single nucleotide variant	NM_001039141.3(TRIOBP):c.5488-2A>G	TRIOBP	Likely pathogenic	22	38151106	38151106	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10224719
single nucleotide variant	NM_000307.5(POU3F4):c.647G>A (p.Gly216Glu)	POU3F4	Likely pathogenic	X	82763979	82763979	G	A	criteria provided, single submitter	ClinGen:CA16621515
single nucleotide variant	NM_001854.4(COL11A1):c.652-1G>C	COL11A1	Likely pathogenic	1	103496801	103496801	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621570,OMIM:120280.0014
Deletion	NM_153676.4(USH1C):c.841_848del (p.Ser281fs)	USH1C	Pathogenic/Likely pathogenic	11	17544786	17544793	GCTGCGGCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621616