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_006005.3(WFS1):c.2254G>T (p.Glu752Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303776	6303776	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319834
single nucleotide variant	NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)	WFS1	Pathogenic	4	6303947	6303947	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325167
Deletion	NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	WFS1	Pathogenic/Likely pathogenic	4	6304164	6304165	TTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324155,OMIM:606201.0001
single nucleotide variant	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	AIFM1	Likely pathogenic	X	129270141	129270141	A	C	criteria provided, single submitter	ClinGen:CA322395
Deletion	NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)	TJP2	Pathogenic	9	71869122	71869287	TTAGTTCCAGACCCCCTGAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGATGCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGCCAGTCTGCCCGATACCGGGACACAGAATTA	T	criteria provided, single submitter	ClinGen:CA251348
single nucleotide variant	NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	DIAPH1	Pathogenic	5	140908023	140908023	G	A	criteria provided, single submitter	ClinGen:CA279568,OMIM:602121.0004
single nucleotide variant	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Likely pathogenic	X	129267384	129267384	C	T	criteria provided, single submitter	ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
single nucleotide variant	NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)	PCDH15	Pathogenic/Likely pathogenic	10	56128954	56128954	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575816
Deletion	NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs)	MYO15A	Pathogenic	17	18025097	18025104	TGAGCCGGG	T	criteria provided, single submitter	ClinGen:CA249013
Deletion	NM_004817.4(TJP2):c.817del (p.Ala273fs)	TJP2	Pathogenic	9	71836274	71836274	CG	C	criteria provided, single submitter	ClinGen:CA347935,OMIM:607709.0008