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.179G>A (p.Trp60Ter)	HGD	Pathogenic/Likely pathogenic	3	120389377	120389377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040896
single nucleotide variant	NM_000187.4(HGD):c.177-1G>A	HGD	Likely pathogenic	3	120389380	120389380	C	T	criteria provided, single submitter	ClinGen:CA16040897
single nucleotide variant	NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	HGD	Pathogenic/Likely pathogenic	3	120393766	120393766	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2560335
Deletion	NM_000187.4(HGD):c.58del (p.Arg20fs)	HGD	Likely pathogenic	3	120394668	120394668	CG	C	criteria provided, single submitter	ClinGen:CA16040898
Indel	NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)	HGD	Likely pathogenic	3	120394694	120394695	CC	AAT	criteria provided, single submitter	ClinGen:CA16040899
single nucleotide variant	NM_000187.4(HGD):c.15+1G>A	HGD	Likely pathogenic	3	120400943	120400943	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040900
single nucleotide variant	NM_000187.4(HGD):c.3G>C (p.Met1Ile)	HGD	Pathogenic/Likely pathogenic	3	120400956	120400956	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040901
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.879+1G>A	HGD	Likely pathogenic	3	120360435	120360435	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	HGD	Pathogenic	3	120352104	120352104	C	G	criteria provided, multiple submitters, no conflicts	-