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_005612.5(REST):c.831_832del (p.Cys278fs)	REST	Pathogenic	4	57777635	57777636	CAT	C	criteria provided, single submitter	ClinGen:CA351626,OMIM:600571.0001
single nucleotide variant	NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	PCDH15	Pathogenic	10	55721550	55721550	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351436
single nucleotide variant	NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	KARS1	Pathogenic/Likely pathogenic	16	75669880	75669880	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358202,OMIM:601421.0009
single nucleotide variant	NM_005548.3(KARS1):c.22G>T (p.Glu8Ter)	KARS1	Likely pathogenic	16	75681516	75681516	C	A	criteria provided, single submitter	ClinGen:CA358069
single nucleotide variant	NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	GJB2	Pathogenic/Likely pathogenic	13	20763123	20763123	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357244
single nucleotide variant	NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763336	20763336	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044153
single nucleotide variant	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2	Likely pathogenic	13	20763138	20763138	T	C	reviewed by expert panel	ClinGen:CA6904233
Deletion	NM_000260.4(MYO7A):c.223del (p.Asp75fs)	MYO7A	Pathogenic	11	76858930	76858930	TG	T	criteria provided, single submitter	ClinGen:CA10576349
single nucleotide variant	NM_013296.5(GPSM2):c.1063-1G>T	GPSM2	Pathogenic	1	109446746	109446746	G	T	criteria provided, single submitter	ClinGen:CA982965
single nucleotide variant	NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn)	WFS1	Likely pathogenic	4	6304030	6304030	G	C	criteria provided, single submitter	ClinGen:CA10576641,UniProtKB:O76024#VAR_068346,OMIM:606201.0027