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.342+1G>A	HGD	Likely pathogenic	3	120371438	120371438	C	T	criteria provided, single submitter	ClinGen:CA344905
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.674G>A (p.Arg225His)	HGD	Pathogenic/Likely pathogenic	3	120363266	120363266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277989,UniProtKB:Q93099#VAR_005281
Deletion	NM_000187.4(HGD):c.652del	HGD	Pathogenic/Likely pathogenic	3	120363288	120363288	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA277987
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
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.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.1201G>C (p.Glu401Gln)	HGD	Pathogenic/Likely pathogenic	3	120347364	120347364	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2559930
single nucleotide variant	NM_000187.4(HGD):c.1188+1G>T	HGD	Pathogenic/Likely pathogenic	3	120351993	120351993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2559950
Duplication	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	HGD	Likely pathogenic	3	120352117	120352118	A	AC	criteria provided, single submitter	ClinGen:CA16040885