常染色体優性低リン血症性くる病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_020638.3(FGF23):c.527G>A (p.Arg176Gln)	FGF23	Pathogenic	12	4479738	4479738	C	T	criteria provided, single submitter	ClinGen:CA117217,UniProtKB:Q9GZV9#VAR_010717,OMIM:605380.0001
single nucleotide variant	NM_020638.3(FGF23):c.535C>T (p.Arg179Trp)	FGF23	Pathogenic/Likely pathogenic	12	4479730	4479730	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117218,UniProtKB:Q9GZV9#VAR_010718,OMIM:605380.0002
single nucleotide variant	NM_020638.3(FGF23):c.162G>C (p.Gln54His)	FGF23	Likely pathogenic	12	4488587	4488587	C	G	criteria provided, single submitter	ClinGen:CA213692
single nucleotide variant	NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)	FGF23	Pathogenic	12	4479729	4479729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213694,UniProtKB:Q9GZV9#VAR_010719
single nucleotide variant	NM_020638.3(FGF23):c.260G>A (p.Gly87Asp)	FGF23	Likely pathogenic	12	4481815	4481815	C	T	criteria provided, single submitter	ClinGen:CA278961
single nucleotide variant	NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)	FGF23	Pathogenic/Likely pathogenic	12	4479880	4479880	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383416399
single nucleotide variant	NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)	FGF23	Pathogenic	12	4479898	4479898	C	A	criteria provided, single submitter	ClinGen:CA383416436