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.2870C>A (p.Ser957Ter)	LOXHD1	Pathogenic	18	44140237	44140237	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter)	TJP2	Pathogenic	9	71849454	71849454	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_004817.4(TJP2):c.2353C>T (p.Gln785Ter)	TJP2	Pathogenic	9	71853703	71853703	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_005422.4(TECTA):c.1774+1G>T	TECTA	Pathogenic	11	120996582	120996582	G	T	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_022124.6(CDH23):c.3221-2A>G	CDH23	Pathogenic	10	73472420	73472420	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001393500.2(TOMT):c.259+1G>A	LRTOMT	Pathogenic	11	71817257	71817257	G	A	criteria provided, single submitter	-
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_001145026.2(PTPRQ):c.1359+2T>C	PTPRQ	Pathogenic/Likely pathogenic	12	80878386	80878386	T	C	criteria provided, multiple submitters, no conflicts	-