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
Insertion	NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs)	MYO7A	Likely pathogenic	11	76885818	76885819	T	TAG	criteria provided, single submitter	ClinGen:CA278637
single nucleotide variant	NM_000260.4(MYO7A):c.19-1G>A	MYO7A	Likely pathogenic	11	76853754	76853754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278634
Duplication	NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer)	MYO7A	Likely pathogenic	11	76883828	76883829	G	GCAGCCA	criteria provided, single submitter	ClinGen:CA278632
single nucleotide variant	NM_000260.4(MYO7A):c.1690+1G>A	MYO7A	Likely pathogenic	11	76874035	76874035	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278631
single nucleotide variant	NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val)	MYO7A	Likely pathogenic	11	76873192	76873192	C	T	criteria provided, single submitter	ClinGen:CA278624,UniProtKB:Q13402#VAR_024046
single nucleotide variant	NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)	CIB2	Likely pathogenic	15	78401651	78401651	A	G	criteria provided, single submitter	ClinGen:CA130456,UniProtKB:O75838#VAR_069087,OMIM:605564.0001
single nucleotide variant	NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	KCNJ10	Likely pathogenic	1	160012130	160012130	G	A	criteria provided, single submitter	ClinGen:CA129068,OMIM:602208.0010
single nucleotide variant	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	GJB2	Likely pathogenic	13	20763665	20763665	C	G	reviewed by expert panel	ClinGen:CA342005
single nucleotide variant	NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	ACTG1	Likely pathogenic	17	79478295	79478295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219954,UniProtKB:P63261#VAR_067826,UniProtKB/Swiss-Prot:VAR_067826,OMIM:102560.0008
single nucleotide variant	NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)	GJB2	Likely pathogenic	13	20763116	20763116	C	A	criteria provided, single submitter	ClinGen:CA257678,UniProtKB:P29033#VAR_015944,OMIM:121011.0018