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_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)	COL11A1	Pathogenic	1	103379943	103379943	C	A	criteria provided, single submitter	OMIM:120280.0011
single nucleotide variant	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2	Pathogenic/Likely pathogenic	13	20763170	20763170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA172235,UniProtKB:P29033#VAR_023614,OMIM:121011.0039
single nucleotide variant	NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)	MYO7A	Pathogenic/Likely pathogenic	11	76871312	76871312	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128772,OMIM:276903.0021
single nucleotide variant	NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	KCNJ10	Likely pathogenic	1	160012130	160012130	G	A	criteria provided, single submitter	ClinGen:CA129068,OMIM:602208.0010
single nucleotide variant	NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)	DIABLO	Pathogenic	12	122701355	122701355	G	A	criteria provided, single submitter	ClinGen:CA129213,UniProtKB:Q9NR28#VAR_066487,OMIM:605219.0001
single nucleotide variant	NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	WFS1	Pathogenic	4	6303573	6303573	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129328,UniProtKB:O76024#VAR_011310,OMIM:606201.0028
single nucleotide variant	NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu)	MYH14	Pathogenic	19	50771512	50771512	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129426,OMIM:608568.0006
single nucleotide variant	NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)	ILDR1	Pathogenic	3	121720218	121720218	G	A	criteria provided, single submitter	ClinGen:CA129477,OMIM:609739.0003
Duplication	NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	PDZD7	Pathogenic	10	102789810	102789811	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA259967,OMIM:612971.0001
single nucleotide variant	NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44104697	44104697	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424808,ClinGen:CA259968,OMIM:613072.0002