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_004817.4(TJP2):c.2509C>T (p.Arg837Ter)	TJP2	Pathogenic	9	71855006	71855006	C	T	criteria provided, single submitter	-
Deletion	NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs)	TRIOBP	Pathogenic	22	38122040	38122086	ACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCT	A	criteria provided, single submitter	-
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_000307.5(POU3F4):c.975G>A (p.Trp325Ter)	POU3F4	Pathogenic	X	82764307	82764307	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)	MYO3A	Pathogenic	10	26414513	26414513	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_017433.5(MYO3A):c.2180dup (p.Asn727fs)	MYO3A	Pathogenic	10	26417377	26417378	C	CA	criteria provided, single submitter	-
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_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23	Pathogenic/Likely pathogenic	10	73466716	73466716	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)	STRC	Likely pathogenic	15	43893620	43893620	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	-