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_004100.5(EYA4):c.409C>T (p.Gln137Ter)	EYA4	Pathogenic	6	133782290	133782290	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)	MYO6	Pathogenic/Likely pathogenic	6	76564936	76564936	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter)	SLC26A4	Pathogenic	7	107303877	107303877	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_024915.4(GRHL2):c.1264G>T (p.Glu422Ter)	GRHL2	Likely pathogenic	8	102643871	102643871	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_138691.3(TMC1):c.582G>A (p.Trp194Ter)	TMC1	Likely pathogenic	9	75366812	75366812	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)	CDH23	Pathogenic	10	73461806	73461806	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)	CDH23	Pathogenic	10	73569657	73569657	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005422.4(TECTA):c.4601G>A (p.Trp1534Ter)	TECTA	Likely pathogenic	11	121028845	121028845	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)	MYO7A	Pathogenic	11	76922375	76922375	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)	TBC1D24	Pathogenic	16	2546591	2546591	G	T	criteria provided, multiple submitters, no conflicts	-