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_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)	KCNQ4	Pathogenic	1	41285565	41285565	G	T	criteria provided, single submitter	ClinGen:CA340535,UniProtKB:P56696#VAR_008727,OMIM:603537.0004
single nucleotide variant	NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)	KCNQ4	Pathogenic	1	41285554	41285554	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340537,UniProtKB:P56696#VAR_010937,OMIM:603537.0006
single nucleotide variant	NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)	GJB3	Pathogenic	1	35250398	35250398	G	A	criteria provided, single submitter	ClinGen:CA118303,UniProtKB:O75712#VAR_002147,OMIM:603324.0002
single nucleotide variant	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	COCH	Pathogenic	14	31346846	31346846	C	T	reviewed by expert panel	ClinGen:CA253889,UniProtKB:O43405#VAR_008532,OMIM:603196.0004
single nucleotide variant	NM_004086.3(COCH):c.326T>A (p.Ile109Asn)	COCH	Pathogenic	14	31348103	31348103	T	A	criteria provided, single submitter	ClinGen:CA253891,UniProtKB:O43405#VAR_008535,OMIM:603196.0005
single nucleotide variant	NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)	COCH	Pathogenic	14	31358969	31358969	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253895,OMIM:603196.0007
single nucleotide variant	NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)	MYO15A	Likely pathogenic	17	18049249	18049249	A	T	reviewed by expert panel	ClinGen:CA254013,UniProtKB:Q9UKN7#VAR_010304,OMIM:602666.0001
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.5609A>G (p.Tyr1870Cys)	TECTA	Pathogenic	11	121038785	121038785	A	G	criteria provided, single submitter	ClinGen:CA254066,UniProtKB:O75443#VAR_018976,OMIM:602574.0002
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