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_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)	LOXHD1	Pathogenic	18	44139458	44139458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273647
single nucleotide variant	NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe)	MYO7A	Likely pathogenic	11	76858995	76858995	A	T	criteria provided, single submitter	ClinGen:CA177364
Deletion	NM_000260.4(MYO7A):c.973_976del (p.Ile325fs)	MYO7A	Pathogenic	11	76869444	76869447	GCCAT	G	criteria provided, single submitter	ClinGen:CA278719
single nucleotide variant	NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)	MYO7A	Likely pathogenic	11	76869450	76869450	T	A	reviewed by expert panel	ClinGen:CA278720
single nucleotide variant	NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)	MYO7A	Likely pathogenic	11	76873927	76873927	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA177372
Duplication	NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)	WFS1	Pathogenic/Likely pathogenic	4	6302962	6302963	C	CCTGAAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA273296,OMIM:606201.0007
single nucleotide variant	NM_022124.6(CDH23):c.4209+1G>T	CDH23	Pathogenic	10	73494416	73494416	G	T	criteria provided, single submitter	ClinGen:CA233647
single nucleotide variant	NM_001854.4(COL11A1):c.3709-1G>A	COL11A1	Pathogenic	1	103385921	103385921	C	T	criteria provided, single submitter	ClinGen:CA233801
single nucleotide variant	NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	GJB2	Pathogenic	13	20763471	20763471	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234087,UniProtKB:P29033#VAR_002143
single nucleotide variant	NM_000260.4(MYO7A):c.470+1G>A	MYO7A	Pathogenic	11	76867138	76867138	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278726