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_004999.4(MYO6):c.238C>T (p.Arg80Ter)	MYO6	Pathogenic	6	76538307	76538307	C	T	reviewed by expert panel	ClinGen:CA183381
single nucleotide variant	NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)	SLC26A4	Pathogenic/Likely pathogenic	7	107336462	107336462	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA185015
single nucleotide variant	NM_000441.2(SLC26A4):c.2089+1G>A	SLC26A4	Pathogenic	7	107344831	107344831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273227
single nucleotide variant	NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107350624	107350624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273228
single nucleotide variant	NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp)	MYO6	Likely pathogenic	6	76568620	76568620	G	C	criteria provided, single submitter	ClinGen:CA183339
Indel	NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs)	MYO6	Likely pathogenic	6	76617352	76617357	TGCTGG	ATCCTACATACTTAAAATTTCTT	criteria provided, single submitter	ClinGen:CA273642
single nucleotide variant	NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107338496	107338496	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273225
single nucleotide variant	NM_000441.2(SLC26A4):c.1614+1G>C	SLC26A4	Pathogenic/Likely pathogenic	7	107338557	107338557	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273598
Deletion	NM_033056.3(PCDH15):c.(?_-15)_(876_?)del	PCDH15	Pathogenic	10	56077031	56424037	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_022124.6(CDH23):c.945+1G>T	CDH23	Pathogenic	10	73375374	73375374	G	T	criteria provided, single submitter	ClinGen:CA273132

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