ハーラー症候群

小児・神経疾患

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_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	IDUA	Pathogenic/Likely pathogenic	4	996247	996247	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA91169370
Deletion	NM_000203.5(IDUA):c.1893del (p.Phe632fs)	IDUA	Likely pathogenic	4	998109	998109	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683377
Deletion	NM_000203.5(IDUA):c.876del (p.Asp292fs)	IDUA	Pathogenic/Likely pathogenic	4	995853	995853	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657370
single nucleotide variant	NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter)	IDUA	Likely pathogenic	4	998133	998133	C	A	criteria provided, single submitter	ClinGen:CA91172399
single nucleotide variant	NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)	IDUA	Pathogenic/Likely pathogenic	4	997206	997206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355965029
single nucleotide variant	NM_000203.5(IDUA):c.554A>C (p.His185Pro)	IDUA	Likely pathogenic	4	995316	995316	A	C	criteria provided, single submitter	ClinGen:CA16618019
single nucleotide variant	NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)	IDUA	Pathogenic/Likely pathogenic	4	998117	998117	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605410
single nucleotide variant	NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	IDUA	Pathogenic	4	998074	998074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802455
single nucleotide variant	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	IDUA	Pathogenic/Likely pathogenic	4	995590	995590	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802065,UniProtKB:P35475#VAR_020980
single nucleotide variant	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	IDUA	Pathogenic	4	981661	981661	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356994,UniProtKB:P35475#VAR_003352