無セルロプラスミン血症

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_000096.4(CP):c.3019-1G>A	CP	Pathogenic	3	148894200	148894200	C	T	criteria provided, single submitter	ClinGen:CA127255,OMIM:117700.0001
single nucleotide variant	NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	CP	Pathogenic	3	148897374	148897374	C	T	criteria provided, single submitter	ClinGen:CA127258,OMIM:117700.0003
single nucleotide variant	NM_000096.4(CP):c.643C>T (p.Arg215Ter)	CP	Pathogenic	3	148927136	148927136	G	A	criteria provided, single submitter	ClinGen:CA344574
single nucleotide variant	NM_000096.4(CP):c.2701C>T (p.Arg901Ter)	CP	Pathogenic	3	148896379	148896379	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344578
single nucleotide variant	NM_000096.4(CP):c.848G>C (p.Trp283Ser)	CP	Likely pathogenic	3	148925338	148925338	C	G	criteria provided, single submitter	ClinGen:CA344580
Deletion	NM_000096.4(CP):c.2066del (p.Pro689fs)	CP	Pathogenic/Likely pathogenic	3	148904318	148904318	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344601
single nucleotide variant	NM_000096.4(CP):c.147-2A>G	CP	Pathogenic	3	148930487	148930487	T	C	criteria provided, single submitter	ClinGen:CA16042423
single nucleotide variant	NM_000096.4(CP):c.928C>G (p.Arg310Gly)	CP	Likely pathogenic	3	148925258	148925258	G	C	criteria provided, single submitter	ClinGen:CA16042482
single nucleotide variant	NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	CP	Pathogenic/Likely pathogenic	3	148904436	148904436	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2660874
single nucleotide variant	NM_000096.4(CP):c.1679G>T (p.Cys560Phe)	CP	Likely pathogenic	3	148916188	148916188	C	A	criteria provided, single submitter	ClinGen:CA16621520