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
Deletion	NM_005422.4(TECTA):c.1131_1134del (p.Ser376_Trp377insTer)	TECTA	Pathogenic	11	120989353	120989356	CTGGG	C	criteria provided, single submitter	ClinGen:CA602580235
single nucleotide variant	NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)	SLC26A4	Pathogenic	7	107323927	107323927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA368835748
Deletion	NM_000307.5(POU3F4):c.410del (p.Pro137fs)	POU3F4	Likely pathogenic	X	82763741	82763741	GC	G	criteria provided, single submitter	ClinGen:CA658799810
Duplication	NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)	MYO15A	Likely pathogenic	17	18057126	18057127	C	CA	criteria provided, single submitter	ClinGen:CA625044462
Deletion	NM_001039876.3(SYNE4):c.511_526del (p.Arg171fs)	SYNE4	Pathogenic	19	36497744	36497759	AGGGCTGCCCAGGCCCT	A	criteria provided, single submitter	ClinGen:CA658799192
single nucleotide variant	NM_001039141.3(TRIOBP):c.4130G>A (p.Trp1377Ter)	TRIOBP	Likely pathogenic	22	38130473	38130473	G	A	criteria provided, single submitter	ClinGen:CA10224322
single nucleotide variant	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)	KCNQ4	Likely pathogenic	1	41285135	41285135	G	C	reviewed by expert panel	ClinGen:CA21112664
single nucleotide variant	NM_001080476.3(GRXCR1):c.784C>T (p.Arg262Ter)	GRXCR1	Likely pathogenic	4	43032468	43032468	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2904532
single nucleotide variant	NM_004568.6(SERPINB6):c.679G>T (p.Glu227Ter)	SERPINB6	Likely pathogenic	6	2949198	2949198	C	A	criteria provided, single submitter	ClinGen:CA362580684
Deletion	NM_022124.6(CDH23):c.9176del (p.Pro3059fs)	CDH23	Pathogenic	10	73571169	73571169	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797438