"GeneDx"[submitter] AND "FGF23"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 308779	NM_020638.3(FGF23):c.*1429A>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign
Select item 1215582	NM_020638.3(FGF23):c.*18C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 508399	NM_020638.3(FGF23):c.720C>T (p.Gly240=)	FGF23	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 308803	NM_020638.3(FGF23):c.716C>T (p.Thr239Met)	FGF23 (T239M)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +3 more	GBenign
Select item 452037	NM_020638.3(FGF23):c.644A>G (p.Asp215Gly)	FGF23 (D215G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585858	NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)	FGF23 (P195S)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GBenign/Likely benign
Select item 5026	NM_020638.3(FGF23):c.535C>T (p.Arg179Trp)	FGF23 (R179W)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +1 more	GPathogenic/Likely pathogenic
Select item 5025	NM_020638.3(FGF23):c.527G>A (p.Arg176Gln)	FGF23 (R176Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 426533	NM_020638.3(FGF23):c.464C>G (p.Ser155Cys)	FGF23 (S155C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734177	NM_020638.3(FGF23):c.423G>T (p.Ala141=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +2 more	GBenign/Likely benign
Select item 2071128	NM_020638.3(FGF23):c.383A>G (p.His128Arg)	FGF23 (H128R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749824	NM_020638.3(FGF23):c.342G>A (p.Arg114=)	FGF23	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1706877	NM_020638.3(FGF23):c.316-195C>T	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268703	NM_020638.3(FGF23):c.315+254dup	FGF23	Duplication (intron variant)	not provided	GBenign
Select item 1259786	NM_020638.3(FGF23):c.315+196A>G	FGF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238224	NM_020638.3(FGF23):c.212-37_212-36insC	FGF23	Insertion (intron variant)	not provided	GBenign
Select item 1291177	NM_020638.3(FGF23):c.212-103A>G	FGF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253216	NM_020638.3(FGF23):c.212-238C>T	FGF23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226623	NM_020638.3(FGF23):c.211+153TG[8]	FGF23	Microsatellite (intron variant)	not provided	GBenign
Select item 5027	NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)	FGF23 (S71G)	Single nucleotide variant (missense variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3365592	NM_020638.3(FGF23):c.178C>T (p.His60Tyr)	FGF23 (H60Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421548	NM_020638.3(FGF23):c.107G>A (p.Trp36Ter)	FGF23 (W36*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1181562	NC_000012.12:g.4380069T>C	FGF23	Single nucleotide variant	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 26