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_006005.3(WFS1):c.376G>A (p.Ala126Thr)	WFS1	Pathogenic/Likely pathogenic	4	6290774	6290774	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2838877
single nucleotide variant	NM_000441.2(SLC26A4):c.1085C>A (p.Ala362Asp)	SLC26A4	Likely pathogenic	7	107329581	107329581	C	A	criteria provided, single submitter	ClinGen:CA16042657
single nucleotide variant	NM_000260.4(MYO7A):c.1555-8C>G	MYO7A	Pathogenic/Likely pathogenic	11	76873891	76873891	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042773
Deletion	NM_000260.4(MYO7A):c.4074del (p.Glu1359fs)	MYO7A	Likely pathogenic	11	76903244	76903244	TC	T	criteria provided, single submitter	ClinGen:CA6198308
Deletion	NM_005422.4(TECTA):c.3368del (p.Pro1123fs)	TECTA	Likely pathogenic	11	121008554	121008554	GC	G	criteria provided, single submitter	ClinGen:CA16042822
single nucleotide variant	NM_000260.4(MYO7A):c.5636+2T>A	MYO7A	Likely pathogenic	11	76916664	76916664	T	A	criteria provided, single submitter	ClinGen:CA16042825
single nucleotide variant	NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76901158	76901158	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042854
single nucleotide variant	NM_001614.5(ACTG1):c.43G>C (p.Gly15Arg)	ACTG1	Likely pathogenic	17	79479338	79479338	C	G	criteria provided, single submitter	ClinGen:CA16043020
single nucleotide variant	NM_194248.3(OTOF):c.2677-2A>G	OTOF	Likely pathogenic	2	26699187	26699187	T	C	criteria provided, single submitter	ClinGen:CA16043390
single nucleotide variant	NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	COL11A2	Likely pathogenic	6	33133760	33133760	C	A	criteria provided, single submitter	ClinGen:CA3750080