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_153700.2(STRC):c.4219-1G>A	STRC	Pathogenic/Likely pathogenic	15	43896351	43896351	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7528101
Deletion	NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58del	OTOA	Pathogenic	16	21689790	21747769	na	na	criteria provided, single submitter	-
Deletion	NM_016239.4(MYO15A):c.3026del (p.Pro1009fs)	MYO15A	Pathogenic	17	18025137	18025137	AC	A	criteria provided, single submitter	ClinGen:CA625315050
single nucleotide variant	NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)	MYO15A	Pathogenic/Likely pathogenic	17	18025499	18025499	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8423453
single nucleotide variant	NM_001384474.1(LOXHD1):c.2244+2T>G	LOXHD1	Likely pathogenic	18	44149403	44149403	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402374677
Duplication	NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)	TMPRSS3	Pathogenic/Likely pathogenic	21	43804115	43804116	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261817
single nucleotide variant	NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter)	OTOG	Likely pathogenic	11	17650706	17650706	G	A	criteria provided, single submitter	ClinGen:CA379807735
Deletion	NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)del	OTOGL	Pathogenic	12	80761270	80771907	na	na	criteria provided, single submitter	-
Duplication	NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs)	OTOGL	Pathogenic	12	80696424	80696425	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6700965
single nucleotide variant	NM_153700.2(STRC):c.379C>T (p.Arg127Ter)	STRC	Pathogenic	15	43910240	43910240	G	A	criteria provided, single submitter	ClinGen:CA7528479