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_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76913396	76913396	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381951651
Deletion	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2	Likely pathogenic	13	20763076	20763076	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656317
single nucleotide variant	NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	GJB2	Likely pathogenic	13	20763611	20763611	A	G	reviewed by expert panel	ClinGen:CA6904317
single nucleotide variant	NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)	MYO15A	Pathogenic	17	18034815	18034815	C	A	reviewed by expert panel	ClinGen:CA398592848
Deletion	NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer)	MYO15A	Pathogenic	17	18052865	18052866	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA625315146
single nucleotide variant	NM_016239.4(MYO15A):c.7396-1G>A	MYO15A	Pathogenic/Likely pathogenic	17	18054149	18054149	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8424833
single nucleotide variant	NM_016239.4(MYO15A):c.8341G>C (p.Gly2781Arg)	MYO15A	Likely pathogenic	17	18058628	18058628	G	C	criteria provided, single submitter	ClinGen:CA398626561
Deletion	NM_016239.4(MYO15A):c.9538_9539del (p.Gln3180fs)	MYO15A	Pathogenic	17	18065919	18065920	GCA	G	criteria provided, single submitter	ClinGen:CA658656539
single nucleotide variant	NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)	ACTG1	Likely pathogenic	17	79478405	79478405	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA401460450
single nucleotide variant	NM_001384474.1(LOXHD1):c.3061+1G>T	LOXHD1	Likely pathogenic	18	44140045	44140045	C	A	criteria provided, single submitter	ClinGen:CA402369650