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_006005.3(WFS1):c.2486T>C (p.Leu829Pro)	WFS1	Pathogenic/Likely pathogenic	4	6304008	6304008	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253199,UniProtKB:O76024#VAR_032967,OMIM:606201.0015
single nucleotide variant	NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	WFS1	Pathogenic/Likely pathogenic	4	6304112	6304112	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116903,UniProtKB:O76024#VAR_032969,OMIM:606201.0020
single nucleotide variant	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4	Pathogenic/Likely pathogenic	7	107315496	107315496	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261437,UniProtKB:O43511#VAR_007441,OMIM:605646.0005
single nucleotide variant	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Pathogenic	7	107323983	107323983	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261396,OMIM:605646.0007
single nucleotide variant	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4	Pathogenic/Likely pathogenic	7	107330570	107330570	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261398,UniProtKB:O43511#VAR_007444,OMIM:605646.0008,OMIM:605646.0026
single nucleotide variant	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4	Pathogenic/Likely pathogenic	7	107315415	107315415	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253304,UniProtKB:O43511#VAR_007440,OMIM:605646.0009
single nucleotide variant	NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	SLC26A4	Pathogenic	7	107329611	107329611	C	T	criteria provided, single submitter	OMIM:605646.0014,ClinGen:CA253306,UniProtKB:O43511#VAR_007443
single nucleotide variant	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	SLC26A4	Pathogenic/Likely pathogenic	7	107350577	107350577	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253307,UniProtKB:O43511#VAR_007449,OMIM:605646.0011,ClinVar:998002
single nucleotide variant	NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	SLC26A4	Pathogenic	7	107350571	107350571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253308,UniProtKB:O43511#VAR_007448,OMIM:605646.0012
single nucleotide variant	NM_000441.2(SLC26A4):c.415+7A>G	SLC26A4	Pathogenic	7	107312700	107312700	A	G	criteria provided, single submitter	OMIM:605646.0017