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.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.11T>A (p.Leu4Ter)	HGD	Pathogenic/Likely pathogenic	3	120400948	120400948	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277982
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.16-1G>A	HGD	Pathogenic	3	120394711	120394711	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340046,OMIM:607474.0005
Indel	NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)	HGD	Likely pathogenic	3	120394694	120394695	CC	AAT	criteria provided, single submitter	ClinGen:CA16040899
Deletion	NM_000187.4(HGD):c.58del (p.Arg20fs)	HGD	Likely pathogenic	3	120394668	120394668	CG	C	criteria provided, single submitter	ClinGen:CA16040898
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.175del (p.Ser59fs)	HGD	Pathogenic	3	120393749	120393749	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA340047,OMIM:607474.0006
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.179G>A (p.Trp60Ter)	HGD	Pathogenic/Likely pathogenic	3	120389377	120389377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040896