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_004004.6(GJB2):c.239dup (p.Leu81fs)	GJB2	Pathogenic/Likely pathogenic	13	20763481	20763482	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)	MYO7A	Pathogenic/Likely pathogenic	11	76919825	76919825	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)	MYO7A	Pathogenic/Likely pathogenic	11	76912557	76912557	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3924+1G>C	MYO7A	Pathogenic/Likely pathogenic	11	76901916	76901916	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76894125	76894125	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2	Pathogenic/Likely pathogenic	13	20763488	20763489	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)	MYO7A	Pathogenic/Likely pathogenic	11	76918447	76918447	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)	MYO7A	Pathogenic/Likely pathogenic	11	76914195	76914195	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5168+2T>C	MYO7A	Pathogenic/Likely pathogenic	11	76913471	76913471	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)	MYO7A	Pathogenic/Likely pathogenic	11	76910653	76910653	AC	A	criteria provided, multiple submitters, no conflicts	-