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
Deletion	NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)	TBC1D24	Pathogenic/Likely pathogenic	16	2546623	2546623	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319047
single nucleotide variant	NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)	TBC1D24	Pathogenic/Likely pathogenic	16	2546829	2546829	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319035
Indel	NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs)	TBC1D24	Pathogenic	16	2546840	2546849	GTCTTCCTGG	CTT	criteria provided, single submitter	ClinGen:CA319071
single nucleotide variant	NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	SIX1	Likely pathogenic	14	61115535	61115535	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275962,OMIM:601205.0005
single nucleotide variant	NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)	KCNQ4	Pathogenic	1	41285584	41285584	C	T	criteria provided, single submitter	ClinGen:CA347354
single nucleotide variant	NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe)	KCNQ4	Likely pathogenic	1	41304146	41304146	C	T	criteria provided, single submitter	ClinGen:CA347366
single nucleotide variant	NM_004100.5(EYA4):c.1739-1G>A	EYA4	Likely pathogenic	6	133846291	133846291	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275997
single nucleotide variant	NM_080680.3(COL11A2):c.2268+1G>T	COL11A2	Likely pathogenic	6	33143792	33143792	C	A	criteria provided, single submitter	ClinGen:CA204779
Duplication	NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)	LRTOMT	Pathogenic	11	71819708	71819709	C	CAGCT	criteria provided, multiple submitters, no conflicts	ClinVar:430723,ClinGen:CA204751
Deletion	NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	WFS1	Pathogenic/Likely pathogenic	4	6304168	6304171	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276185,OMIM:606201.0012