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_153676.4(USH1C):c.91C>T (p.Arg31Ter)	USH1C	Pathogenic	11	17554815	17554815	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253419,OMIM:605242.0007
single nucleotide variant	NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	GJB6	Pathogenic	13	20797589	20797589	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253526,UniProtKB:O95452#VAR_015696,OMIM:604418.0002
single nucleotide variant	NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	GJB6	Pathogenic	13	20797357	20797357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253528,UniProtKB:O95452#VAR_015697,OMIM:604418.0003
single nucleotide variant	NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)	OTOF	Pathogenic	2	26689591	26689591	A	T	criteria provided, single submitter	ClinGen:CA340522,OMIM:603681.0001
single nucleotide variant	NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	OTOF	Pathogenic	2	26683071	26683071	C	T	criteria provided, single submitter	ClinGen:CA212844,UniProtKB:Q9HC10#VAR_032241,OMIM:603681.0007,OMIM:603681.0012
single nucleotide variant	NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	OTOF	Pathogenic	2	26700078	26700078	G	A	reviewed by expert panel	ClinGen:CA340525,OMIM:603681.0004
single nucleotide variant	NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)	OTOF	Likely pathogenic	2	26705309	26705309	A	G	criteria provided, single submitter	ClinGen:CA117973,UniProtKB:Q9HC10#VAR_032229,OMIM:603681.0011
single nucleotide variant	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4	Pathogenic	1	41285565	41285565	G	A	reviewed by expert panel	ClinGen:CA340532,UniProtKB:P56696#VAR_001547,OMIM:603537.0001
single nucleotide variant	NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)	KCNQ4	Pathogenic	1	41285137	41285137	G	C	criteria provided, single submitter	ClinGen:CA340533,UniProtKB:P56696#VAR_008726,OMIM:603537.0002
single nucleotide variant	NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)	KCNQ4	Pathogenic/Likely pathogenic	1	41285852	41285852	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340534,UniProtKB:P56696#VAR_008728,OMIM:603537.0003