遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	TMPRSS3	Pathogenic/Likely pathogenic	21	43808612	43808612	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10042653
single nucleotide variant	NM_004208.4(AIFM1):c.469G>T (p.Ala157Ser)	AIFM1	Likely pathogenic	X	129281732	129281732	C	A	criteria provided, single submitter	ClinGen:CA414588706
single nucleotide variant	NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)	WFS1	Pathogenic/Likely pathogenic	4	6304176	6304176	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839823
single nucleotide variant	NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)	TBC1D24	Likely pathogenic	16	2547015	2547015	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394377660
Deletion	NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)	MYO15A	Pathogenic	17	18052803	18052806	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8424746
single nucleotide variant	NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)	ACTG1	Likely pathogenic	17	79478586	79478586	C	T	criteria provided, single submitter	ClinGen:CA401461230
single nucleotide variant	NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	KARS1	Pathogenic	16	75663434	75663434	C	T	criteria provided, single submitter	ClinVar:437932,ClinGen:CA8177232,OMIM:601421.0007
Deletion	NM_153676.4(USH1C):c.748_759+5del	USH1C	Pathogenic/Likely pathogenic	11	17545993	17546009	ACTCACCTCCAATCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA597667969
single nucleotide variant	NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)	MYO7A	Pathogenic	11	76866991	76866991	C	A	criteria provided, single submitter	ClinGen:CA381931149
single nucleotide variant	NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	MYO7A	Pathogenic/Likely pathogenic	11	76868036	76868036	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197223