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_001243133.2(NLRP3):c.1705G>A (p.Gly569Arg)	NLRP3	Pathogenic	1	247588456	247588456	G	A	criteria provided, single submitter	ClinGen:CA10577233,UniProtKB:Q96P20#VAR_014107
single nucleotide variant	NM_006016.6(CD164):c.574C>T (p.Arg192Ter)	CD164	Likely pathogenic	6	109690074	109690074	G	A	criteria provided, single submitter	ClinGen:CA10581228,OMIM:603356.0001
single nucleotide variant	NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)	CDC14A	Pathogenic/Likely pathogenic	1	100949996	100949996	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581234,OMIM:603504.0001
single nucleotide variant	NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)	CDC14A	Pathogenic	1	100949885	100949885	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA970769,OMIM:603504.0002
single nucleotide variant	NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)	TECTA	Likely pathogenic	11	121058558	121058558	A	G	criteria provided, single submitter	ClinGen:CA10581507
single nucleotide variant	NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)	MYO7A	Pathogenic/Likely pathogenic	11	76885835	76885835	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616838,ClinVar:424810
single nucleotide variant	NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)	STRC	Pathogenic	15	43896918	43896918	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424817,ClinGen:CA7528164
Deletion	NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)	MYO15A	Pathogenic	17	18022487	18022488	CCG	C	criteria provided, single submitter	ClinGen:CA16616839,ClinVar:424811
single nucleotide variant	NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)	MYO15A	Likely pathogenic	17	18052889	18052889	G	T	criteria provided, single submitter	ClinGen:CA10581512
single nucleotide variant	NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)	MYO15A	Pathogenic	17	18058539	18058539	G	A	criteria provided, single submitter	ClinGen:CA10581513