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_194248.3(OTOF):c.5375G>A (p.Arg1792His)	OTOF	Likely pathogenic	2	26684722	26684722	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA236032,OMIM:603681.0015
single nucleotide variant	NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	TBC1D24	Pathogenic	16	2546835	2546835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344789,UniProtKB:Q9ULP9#VAR_070102,OMIM:613577.0005
copy number loss	GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1	COL11A1	Pathogenic	1	103381480	103431911	na	na	criteria provided, single submitter	dbVar:nssv577217
Deletion	NM_194248.3(OTOF):c.1236del (p.Glu413fs)	OTOF	Pathogenic	2	26706486	26706486	CG	C	criteria provided, single submitter	ClinGen:CA345086
single nucleotide variant	NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)	OTOF	Pathogenic	2	26706449	26706449	G	A	criteria provided, single submitter	ClinGen:CA345087
Deletion	NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)	OTOF	Pathogenic	2	26705286	26705301	TCATTAGAAATCTTGCG	T	criteria provided, single submitter	-
single nucleotide variant	NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)	OTOF	Likely pathogenic	2	26703142	26703142	C	T	criteria provided, single submitter	ClinGen:CA345098
Deletion	NM_194248.3(OTOF):c.1966del (p.Arg656fs)	OTOF	Pathogenic	2	26702468	26702468	CG	C	criteria provided, single submitter	ClinGen:CA345100
single nucleotide variant	NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)	OTOF	Pathogenic	2	26700593	26700593	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345101,OMIM:603681.0014
single nucleotide variant	NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)	OTOF	Pathogenic	2	26698882	26698882	G	T	criteria provided, single submitter	ClinGen:CA345110,UniProtKB:Q9HC10#VAR_046004