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_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)	GPSM2	Pathogenic/Likely pathogenic	1	109465090	109465090	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA983073
Duplication	NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs)	KCNQ4	Likely pathogenic	1	41300691	41300692	T	TACGAC	criteria provided, single submitter	ClinGen:CA658795428
single nucleotide variant	NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu)	COL11A2	Likely pathogenic	6	33132171	33132171	T	A	criteria provided, single submitter	ClinGen:CA363616329
Duplication	NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))	SLC26A4	Likely pathogenic	7	107312583	107312693	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val)	COL11A2	Likely pathogenic	6	33139524	33139524	C	A	criteria provided, single submitter	ClinGen:CA363636462
single nucleotide variant	NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr)	MYO6	Likely pathogenic	6	76545655	76545655	G	T	criteria provided, single submitter	ClinGen:CA364769055
single nucleotide variant	NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)	SLC26A4	Pathogenic/Likely pathogenic	7	107330650	107330650	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368839274
single nucleotide variant	NM_022124.6(CDH23):c.2289+1G>A	CDH23	Pathogenic	10	73454017	73454017	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5544150
single nucleotide variant	NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter)	TECTA	Pathogenic	11	120998825	120998825	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA383014259
single nucleotide variant	NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter)	OTOG	Likely pathogenic	11	17631504	17631504	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA218475481