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
Duplication	NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs)	DIAPH1	Pathogenic	5	140908380	140908381	C	CTT	criteria provided, single submitter	ClinGen:CA658796653
Insertion	NM_004100.5(EYA4):c.437+2_437+3insG	EYA4	Likely pathogenic	6	133782320	133782321	T	TG	criteria provided, single submitter	ClinGen:CA658796832
Deletion	NM_000260.4(MYO7A):c.1353_1360del (p.Gln451fs)	MYO7A	Pathogenic	11	76873172	76873179	AGCAGCTCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA600343667
single nucleotide variant	NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76883816	76883816	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381938236
single nucleotide variant	NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter)	OTOGL	Pathogenic	12	80648963	80648963	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6700503
Indel	NM_004086.3(COCH):c.1446_1452delinsTGGA (p.Gln483del)	COCH	Likely pathogenic	14	31355487	31355493	CCAAGGC	TGGA	criteria provided, single submitter	ClinGen:CA658798202
single nucleotide variant	NM_004999.4(MYO6):c.1945-2A>G	MYO6	Likely pathogenic	6	76580362	76580362	A	G	criteria provided, single submitter	ClinGen:CA364767700
Deletion	NM_138691.3(TMC1):c.2130-1del	TMC1	Pathogenic	9	75445366	75445366	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797214
Deletion	NM_022124.6(CDH23):c.2984del (p.Phe995fs)	CDH23	Pathogenic/Likely pathogenic	10	73466683	73466683	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797435
Duplication	NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)	EYA4	Pathogenic	6	133783612	133783613	T	TA	criteria provided, single submitter	ClinGen:CA658796833