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_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	SLC26A4	Pathogenic	7	107334918	107334918	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253309,UniProtKB:O43511#VAR_011624,OMIM:605646.0018
single nucleotide variant	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4	Pathogenic/Likely pathogenic	7	107314771	107314771	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253310,UniProtKB:O43511#VAR_011623,OMIM:605646.0019,ClinVar:424816
single nucleotide variant	NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	SLC26A4	Pathogenic/Likely pathogenic	7	107312675	107312675	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253311,UniProtKB:O43511#VAR_021649,OMIM:605646.0023
single nucleotide variant	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	SLC26A4	Pathogenic	7	107312690	107312690	G	T	reviewed by expert panel	ClinGen:CA253312,UniProtKB:O43511#VAR_021651,OMIM:605646.0024
single nucleotide variant	NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	SLC26A4	Pathogenic/Likely pathogenic	7	107338530	107338530	T	C	criteria provided, multiple submitters, no conflicts	UniProtKB:O43511#VAR_021670,OMIM:605646.0025,ClinGen:CA253313
single nucleotide variant	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4	Pathogenic/Likely pathogenic	7	107302171	107302171	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253315,UniProtKB:O43511#VAR_021640,OMIM:605646.0028
single nucleotide variant	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Pathogenic	7	107323898	107323898	A	G	reviewed by expert panel	ClinGen:CA261445,OMIM:605646.0029
single nucleotide variant	NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)	SLC26A4	Pathogenic	7	107336480	107336480	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340295,OMIM:605646.0030
single nucleotide variant	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	SLC26A4	Likely pathogenic	7	107329499	107329499	T	C	reviewed by expert panel	ClinGen:CA253316,UniProtKB:O43511#VAR_021656,OMIM:605646.0031
single nucleotide variant	NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)	CLDN14	Pathogenic	21	37833740	37833740	A	T	criteria provided, single submitter	ClinGen:CA117103,UniProtKB:O95500#VAR_010738,OMIM:605608.0002,ClinVar:375673