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_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55698632	55698632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261844
single nucleotide variant	NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter)	TMC1	Pathogenic	9	75404174	75404174	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:424813,ClinGen:CA261926
single nucleotide variant	NM_138691.3(TMC1):c.674C>T (p.Pro225Leu)	TMC1	Likely pathogenic	9	75369733	75369733	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:424807,ClinGen:CA261929
single nucleotide variant	NM_147196.3(TMIE):c.211+3G>C	TMIE	Likely pathogenic	3	46747400	46747400	G	C	criteria provided, single submitter	ClinGen:CA261933
single nucleotide variant	NM_147196.3(TMIE):c.251G>T (p.Arg84Leu)	TMIE	Likely pathogenic	3	46750655	46750655	G	T	criteria provided, single submitter	ClinGen:CA261934
single nucleotide variant	NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)	OTOF	Pathogenic	2	26702193	26702193	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262042
Insertion	NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs)	OTOF	Likely pathogenic	2	26700319	26700320	C	CT	criteria provided, single submitter	ClinGen:CA262044
single nucleotide variant	NM_194248.3(OTOF):c.4228-1G>A	OTOF	Likely pathogenic	2	26690102	26690102	C	T	criteria provided, single submitter	ClinGen:CA262045
single nucleotide variant	NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)	OTOF	Pathogenic/Likely pathogenic	2	26688621	26688621	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA344698
single nucleotide variant	NM_194248.3(OTOF):c.5193-1G>A	OTOF	Likely pathogenic	2	26685050	26685050	C	T	reviewed by expert panel	ClinGen:CA262046,ClinVar:424809