遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1963A>G (p.Ile655Val)	SLC26A4	Likely pathogenic	7	107342431	107342431	A	G	reviewed by expert panel	ClinGen:CA261421
single nucleotide variant	NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	SLC26A4	Pathogenic/Likely pathogenic	7	107342495	107342495	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261424,UniProtKB:O43511#VAR_021678
single nucleotide variant	NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	SLC26A4	Likely pathogenic	7	107350554	107350554	G	T	reviewed by expert panel	ClinGen:CA261425
single nucleotide variant	NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter)	SLC26A4	Pathogenic	7	107350597	107350597	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261427
Deletion	NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)	SLC26A4	Pathogenic	7	107303868	107303872	GGCCAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261429
single nucleotide variant	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4	Pathogenic	7	107302088	107302088	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261430
single nucleotide variant	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	SLC26A4	Pathogenic	7	107312627	107312627	C	T	reviewed by expert panel	ClinVar:424816,ClinGen:CA132727,UniProtKB:O43511#VAR_021647
Indel	NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs)	SLC26A4	Likely pathogenic	7	107312675	107312676	TC	A	criteria provided, single submitter	ClinGen:CA261432
single nucleotide variant	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4	Pathogenic	7	107314782	107314782	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261433
single nucleotide variant	NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107302154	107302154	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261435

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