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_153700.2(STRC):c.3460C>T (p.Arg1154Ter)	STRC	Pathogenic/Likely pathogenic	15	43902548	43902548	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter)	STRC	Pathogenic/Likely pathogenic	15	43896963	43896963	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23	Pathogenic/Likely pathogenic	10	73466716	73466716	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_022124.6(CDH23):c.1087del (p.Val363fs)	CDH23	Pathogenic/Likely pathogenic	10	73377102	73377102	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303521	6303521	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001145026.2(PTPRQ):c.1359+2T>C	PTPRQ	Pathogenic/Likely pathogenic	12	80878386	80878386	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016366.3(CABP2):c.637+1G>T	CABP2	Pathogenic/Likely pathogenic	11	67287263	67287263	C	A	criteria provided, multiple submitters, no conflicts	OMIM:607314.0001
single nucleotide variant	NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44102160	44102160	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_016356.5(DCDC2):c.970dup (p.Ala324fs)	DCDC2	Pathogenic/Likely pathogenic	6	24205282	24205283	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)	GJB2	Pathogenic/Likely pathogenic	13	20763195	20763195	T	C	criteria provided, multiple submitters, no conflicts	-