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_016239.4(MYO15A):c.10573del (p.Ser3525fs)	MYO15A	Likely pathogenic	17	18082164	18082164	CA	C	criteria provided, multiple submitters, no conflicts	OMIM:602666.0012
single nucleotide variant	NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)	TECTA	Likely pathogenic	11	121008357	121008357	T	A	criteria provided, single submitter	ClinGen:CA254067,UniProtKB:O75443#VAR_018970,OMIM:602574.0004
single nucleotide variant	NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)	KCNJ10	Likely pathogenic	1	160012094	160012094	C	G	criteria provided, single submitter	ClinGen:CA118814,UniProtKB:P78508#VAR_063060,OMIM:602208.0007
single nucleotide variant	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Likely pathogenic	X	106884166	106884166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001
single nucleotide variant	NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1	Likely pathogenic	X	106888423	106888423	G	C	criteria provided, single submitter	ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002
single nucleotide variant	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Likely pathogenic	X	106884169	106884169	T	C	criteria provided, single submitter	ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010
single nucleotide variant	NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	POU3F4	Likely pathogenic	X	82764332	82764332	A	G	criteria provided, single submitter	ClinGen:CA255977,OMIM:300039.0005
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
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.56G>C (p.Ser19Thr)	GJB2	Likely pathogenic	13	20763665	20763665	C	G	reviewed by expert panel	ClinGen:CA342005