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_013296.5(GPSM2):c.977G>A (p.Trp326Ter)	GPSM2	Pathogenic	1	109445771	109445771	G	A	criteria provided, single submitter	ClinGen:CA16609558
single nucleotide variant	NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	OTOF	Pathogenic/Likely pathogenic	2	26688592	26688592	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1563058
single nucleotide variant	NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)	OTOF	Pathogenic	2	26691336	26691336	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609559
single nucleotide variant	NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	LHFPL5	Likely pathogenic	6	35773448	35773448	A	G	criteria provided, single submitter	ClinGen:CA16609562
single nucleotide variant	NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)	MYO6	Likely pathogenic	6	76554694	76554694	G	T	criteria provided, single submitter	ClinGen:CA16609563
single nucleotide variant	NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	SLC26A4	Pathogenic	7	107344789	107344789	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609565
single nucleotide variant	NM_001384140.1(PCDH15):c.4671+1217C>T	PCDH15	Pathogenic	10	55569099	55569099	G	A	criteria provided, single submitter	ClinGen:CA16609567
single nucleotide variant	NM_022124.6(CDH23):c.683A>T (p.Asp228Val)	CDH23	Likely pathogenic	10	73330605	73330605	A	T	criteria provided, single submitter	ClinGen:CA16609568
single nucleotide variant	NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	CDH23	Pathogenic/Likely pathogenic	10	73377052	73377052	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609569
single nucleotide variant	NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)	CDH23	Pathogenic/Likely pathogenic	10	73377053	73377053	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5543626