アルカプトン尿症

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_000187.4(HGD):c.189G>T (p.Arg63Ser)	HGD	Pathogenic	3	120389367	120389367	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354081558
single nucleotide variant	NM_000187.4(HGD):c.342+1G>T	HGD	Pathogenic/Likely pathogenic	3	120371438	120371438	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277988
single nucleotide variant	NM_000187.4(HGD):c.342+1G>A	HGD	Likely pathogenic	3	120371438	120371438	C	T	criteria provided, single submitter	ClinGen:CA344905
Deletion	NM_000187.4(HGD):c.339_342+2del	HGD	Likely pathogenic	3	120371437	120371442	TACACTC	T	criteria provided, single submitter	ClinGen:CA16040895
Deletion	NM_000187.4(HGD):c.346del (p.Leu116fs)	HGD	Likely pathogenic	3	120369709	120369709	AG	A	criteria provided, single submitter	ClinGen:CA16040894
single nucleotide variant	NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	HGD	Pathogenic	3	120369695	120369695	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344906,UniProtKB:Q93099#VAR_073089
single nucleotide variant	NM_000187.4(HGD):c.365C>T (p.Ala122Val)	HGD	Pathogenic/Likely pathogenic	3	120369690	120369690	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q93099#VAR_073090,ClinGen:CA277986
Deletion	NM_000187.4(HGD):c.376_377del (p.Lys126fs)	HGD	Likely pathogenic	3	120369678	120369679	CTT	C	criteria provided, single submitter	ClinGen:CA16040893
Deletion	NM_000187.4(HGD):c.390del (p.Ala132fs)	HGD	Likely pathogenic	3	120369665	120369665	GC	G	criteria provided, single submitter	ClinGen:CA16040892
Deletion	NM_000187.4(HGD):c.409del (p.Leu137fs)	HGD	Likely pathogenic	3	120369646	120369646	AG	A	criteria provided, single submitter	ClinGen:CA16040891