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.2089+2T>A	SLC26A4	Likely pathogenic	7	107344832	107344832	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)	SLC26A4	Pathogenic/Likely pathogenic	7	107303835	107303835	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	SLC26A4	Pathogenic/Likely pathogenic	7	107312690	107312690	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)	SLC26A4	Pathogenic/Likely pathogenic	7	107303803	107303803	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000441.2(SLC26A4):c.349del (p.Leu117fs)	SLC26A4	Pathogenic	7	107312627	107312627	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000441.2(SLC26A4):c.454del (p.Val152fs)	SLC26A4	Likely pathogenic	7	107314647	107314647	TG	T	criteria provided, single submitter	-
Deletion	NM_000441.2(SLC26A4):c.765_765+3del	SLC26A4	Likely pathogenic	7	107315552	107315555	CTATG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107329601	107329601	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	SLC26A4	Pathogenic/Likely pathogenic	7	107330681	107330681	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	SLC26A4	Pathogenic/Likely pathogenic	7	107335095	107335095	C	A	criteria provided, multiple submitters, no conflicts	-