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_000260.4(MYO7A):c.1343+1G>A	MYO7A	Likely pathogenic	11	76872162	76872162	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.1798-1G>A	MYO7A	Pathogenic/Likely pathogenic	11	76883793	76883793	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)	MYO7A	Pathogenic	11	76890874	76890874	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)	MYO7A	Pathogenic	11	76900479	76900479	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3631-1G>C	MYO7A	Likely pathogenic	11	76901064	76901064	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	GJB2	Pathogenic/Likely pathogenic	13	20763188	20763188	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer)	GJB2	Likely pathogenic	13	20763379	20763380	T	TTCAC	criteria provided, single submitter	-
Indel	NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs)	GJB2	Pathogenic	13	20763393	20763394	CC	T	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4024del (p.Trp1342fs)	MYO7A	Pathogenic/Likely pathogenic	11	76903195	76903195	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004004.6(GJB2):c.49_50del (p.Ser17fs)	GJB2	Likely pathogenic	13	20763671	20763672	GGA	G	criteria provided, single submitter	-