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
Deletion	NM_000096.4(CP):c.48del (p.Ala17fs)	CP	Likely pathogenic	3	148939532	148939532	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000096.4(CP):c.147-2A>G	CP	Pathogenic	3	148930487	148930487	T	C	criteria provided, single submitter	ClinGen:CA16042423
Deletion	NM_000096.4(CP):c.607+1del	CP	Pathogenic/Likely pathogenic	3	148927953	148927953	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2661285
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.848G>C (p.Trp283Ser)	CP	Likely pathogenic	3	148925338	148925338	C	G	criteria provided, single submitter	ClinGen:CA344580
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.1208+1G>A	CP	Pathogenic	3	148923954	148923954	C	T	criteria provided, single submitter	ClinGen:CA354912612
Deletion	NC_000003.12:g.(?_149206148)_(149206359_?)del	CP	Pathogenic	3	148923935	148924146	na	na	criteria provided, single submitter	-
Deletion	NM_000096.4(CP):c.1613del (p.Met538fs)	CP	Pathogenic	3	148916254	148916254	CA	C	criteria provided, single submitter	-
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