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_016239.4(MYO15A):c.7893+1G>A	MYO15A	Pathogenic/Likely pathogenic	17	18055266	18055266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273206
single nucleotide variant	NM_016239.4(MYO15A):c.8714-1G>A	MYO15A	Pathogenic/Likely pathogenic	17	18060469	18060469	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273546
single nucleotide variant	NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter)	MYO15A	Pathogenic	17	18075005	18075005	C	A	criteria provided, single submitter	ClinGen:CA273603
single nucleotide variant	NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44109190	44109190	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424808,ClinGen:CA273544
single nucleotide variant	NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)	LOXHD1	Pathogenic	18	44114411	44114411	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273164
Deletion	NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs)	LOXHD1	Pathogenic	18	44146354	44146354	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273166
Deletion	NM_133261.3(GIPC3):c.279_295del (p.Gln95fs)	GIPC3	Pathogenic	19	3586546	3586562	GGGGGGTCAGATAGGCCT	G	criteria provided, single submitter	ClinGen:CA184146
single nucleotide variant	NM_016239.4(MYO15A):c.5531+1G>A	MYO15A	Pathogenic	17	18044458	18044458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273203
single nucleotide variant	NM_016239.4(MYO15A):c.6046+1G>A	MYO15A	Pathogenic/Likely pathogenic	17	18047111	18047111	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273204
Deletion	NM_016239.4(MYO15A):c.7226del (p.Pro2409fs)	MYO15A	Pathogenic	17	18053755	18053755	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273205