C0342642[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1406065	NM_020638.3(FGF23):c.686G>A (p.Gly229Asp)	FGF23 (G229D)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 1504076	NM_020638.3(FGF23):c.636C>A (p.Ser212Arg)	FGF23 (S212R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1427539	NM_020638.3(FGF23):c.559C>G (p.Arg187Gly)	FGF23 (R187G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 755722	NM_020638.3(FGF23):c.555G>A (p.Ser185=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +2 more	GLikely benign
Select item 308804	NM_020638.3(FGF23):c.555G>C (p.Ser185=)	FGF23	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign/Likely benign
Select item 36135	NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)	FGF23 (R179Q)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +3 more	GPathogenic
Select item 734177	NM_020638.3(FGF23):c.423G>T (p.Ala141=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +3 more	GBenign/Likely benign
Select item 749824	NM_020638.3(FGF23):c.342G>A (p.Arg114=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +2 more	GLikely benign
Select item 1644357	NM_020638.3(FGF23):c.315+15del	FGF23	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1505152	NM_020638.3(FGF23):c.313T>A (p.Ser105Thr)	FGF23 (S105T)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 804799	NM_020638.3(FGF23):c.211+19T>C	FGF23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 930793	NM_020638.3(FGF23):c.88C>T (p.Pro30Ser)	FGF23 (P30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1025781	NM_020638.3(FGF23):c.64C>T (p.Leu22Phe)	FGF23 (L22F)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GUncertain significance
Select item 1536616	NM_020638.3(FGF23):c.51C>T (p.Cys17=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +2 more	GLikely benign
Select item 1472123	NM_020638.3(FGF23):c.46G>A (p.Val16Ile)	FGF23 (V16I)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GUncertain significance
Select item 1179114	GRCh37/hg19 12p13.32(chr12:4477393-4488878)	FGF23	Copy number loss	Autosomal dominant hypophosphatemic rickets +1 more	GPathogenic
Select item 279873	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX, PTCHD1-AS (R747*)	Single nucleotide variant (nonsense +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GPathogenic/Likely pathogenic