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
Duplication	NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs)	MYO15A	Likely pathogenic	17	18041497	18041498	C	CCTCAT	criteria provided, single submitter	ClinGen:CA16621703
Deletion	NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs)	WFS1	Likely pathogenic	4	6303729	6303732	GGCGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621816
Deletion	NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs)	MARVELD2	Likely pathogenic	5	68716090	68716100	GAATTTGGAATT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3294132
single nucleotide variant	NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)	COL11A2	Pathogenic/Likely pathogenic	6	33145477	33145477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3751142
Deletion	NM_024915.4(GRHL2):c.801del (p.Met267fs)	GRHL2	Likely pathogenic	8	102585962	102585962	TG	T	criteria provided, single submitter	ClinGen:CA16621868
single nucleotide variant	NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)	TBC1D24	Pathogenic	16	2547068	2547068	A	C	criteria provided, single submitter	ClinGen:CA394377931
single nucleotide variant	NM_024009.3(GJB3):c.298G>A (p.Glu100Lys)	GJB3	Likely pathogenic	1	35250661	35250661	G	A	criteria provided, single submitter	ClinGen:CA20571397
single nucleotide variant	NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	WFS1	Pathogenic/Likely pathogenic	4	6303195	6303195	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839440
single nucleotide variant	NM_004208.4(AIFM1):c.578T>C (p.Phe193Ser)	AIFM1	Likely pathogenic	X	129281495	129281495	A	G	criteria provided, single submitter	ClinGen:CA414587939
single nucleotide variant	NM_000307.5(POU3F4):c.232C>T (p.Gln78Ter)	POU3F4	Pathogenic	X	82763564	82763564	C	T	criteria provided, single submitter	ClinGen:CA413751087