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_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)	TBC1D24	Pathogenic/Likely pathogenic	16	2546268	2546268	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347136
single nucleotide variant	NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)	TBC1D24	Pathogenic	16	2548254	2548254	G	T	criteria provided, single submitter	ClinGen:CA347141,UniProtKB:Q9ULP9#VAR_070916
single nucleotide variant	NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)	DIAPH1	Pathogenic	5	140953085	140953085	G	A	criteria provided, single submitter	ClinGen:CA210348,OMIM:602121.0002
single nucleotide variant	NM_000245.4(MET):c.2521T>G (p.Phe841Val)	MET	Pathogenic	7	116403260	116403260	T	G	criteria provided, single submitter	ClinGen:CA212644,UniProtKB:P08581#VAR_075757,OMIM:164860.0012
single nucleotide variant	NM_000245.4(MET):c.3274G>A (p.Val1092Ile)	MET	Pathogenic	7	116417457	116417457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA193972
single nucleotide variant	NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)	GJB2	Pathogenic/Likely pathogenic	13	20763513	20763513	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	SLC26A4	Pathogenic/Likely pathogenic	7	107302089	107302089	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273884
single nucleotide variant	NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	SLC26A4	Pathogenic/Likely pathogenic	7	107302170	107302170	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:O43511#VAR_021639,ClinGen:CA274233
Deletion	NM_000441.2(SLC26A4):c.164+1del	SLC26A4	Pathogenic/Likely pathogenic	7	107302250	107302250	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274019
single nucleotide variant	NM_000441.2(SLC26A4):c.165-2A>G	SLC26A4	Likely pathogenic	7	107303739	107303739	A	G	criteria provided, single submitter	ClinGen:CA273938