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
Duplication	NM_022124.6(CDH23):c.9284dup (p.Arg3096fs)	CDH23	Pathogenic/Likely pathogenic	10	73571473	73571474	C	CA	criteria provided, multiple submitters, no conflicts	-
copy number loss	GRCh37/hg19 5q31.3(chr5:140953993-140992629)	DIAPH1	Pathogenic	5	140953993	140992629	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.263C>T (p.Thr88Met)	MYO15A	Likely pathogenic	17	18022377	18022377	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_144672.4(OTOA):c.2301+1G>T	OTOA	Likely pathogenic	16	21742252	21742252	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)	MYH9	Likely pathogenic	22	36702031	36702031	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)	MYH9	Pathogenic	22	36745183	36745183	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)	SLC26A4	Pathogenic	7	107302195	107302195	G	T	criteria provided, single submitter	-
Deletion	NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)	SLC26A4	Pathogenic	7	107334923	107334923	GA	G	criteria provided, single submitter	-
Duplication	NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)	SLC26A4	Pathogenic	7	107340599	107340600	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)	SLC26A4	Pathogenic	7	107341584	107341584	TG	T	criteria provided, single submitter	-

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