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_022124.6(CDH23):c.2701G>A (p.Glu901Lys)	CDH23	Likely pathogenic	10	73462419	73462419	G	A	criteria provided, single submitter	ClinGen:CA10576811
single nucleotide variant	NM_022124.6(CDH23):c.7483-1G>C	CDH23	Pathogenic/Likely pathogenic	10	73562654	73562654	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576817
single nucleotide variant	NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)	CDH23	Pathogenic	10	73572570	73572570	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576821
single nucleotide variant	NM_005422.4(TECTA):c.6163-2A>T	TECTA	Likely pathogenic	11	121059787	121059787	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576840
Deletion	NM_001292063.2(OTOG):c.499del (p.Val167fs)	OTOG	Likely pathogenic	11	17575024	17575024	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5905365
Insertion	NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter)	OTOG	Pathogenic/Likely pathogenic	11	17596425	17596426	T	TAACTGGACACCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576860
Deletion	NM_000260.4(MYO7A):c.4555del (p.Val1519fs)	MYO7A	Pathogenic	11	76909653	76909653	CG	C	criteria provided, single submitter	ClinGen:CA10576902
Deletion	NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs)	MYO7A	Pathogenic	11	76918436	76918446	AAAATTGCAGAC	A	criteria provided, single submitter	ClinGen:CA10576904
single nucleotide variant	NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)	MYO7A	Likely pathogenic	11	76922207	76922207	A	G	reviewed by expert panel	ClinGen:CA10576905
single nucleotide variant	NM_001031679.3(MSRB3):c.264-1G>A	MSRB3	Likely pathogenic	12	65762777	65762777	G	A	criteria provided, single submitter	ClinGen:CA6671451