FGF23[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	LOC130007148, LOC130007149 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, C12orf4 +91 more	Copy number loss	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 146376	GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3	C12orf4, CCND2 +30 more	Copy number gain	See cases	GLikely benign
Select item 308772	NM_020638.3(FGF23):c.*2062A>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign/Likely benign
Select item 308773	NM_020638.3(FGF23):c.*1971T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GBenign
Select item 308774	NM_020638.3(FGF23):c.*1925A>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308775	NM_020638.3(FGF23):c.*1886C>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 308776	NM_020638.3(FGF23):c.*1803C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 308777	NM_020638.3(FGF23):c.*1772G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 308778	NM_020638.3(FGF23):c.*1575T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 883914	NM_020638.3(FGF23):c.*1548T>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 883915	NM_020638.3(FGF23):c.*1492T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 880632	NM_020638.3(FGF23):c.*1471C>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
Select item 880633	NM_020638.3(FGF23):c.*1464T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
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 880634	NM_020638.3(FGF23):c.*1398T>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 308780	NM_020638.3(FGF23):c.*1380TTC[1]	FGF23	Microsatellite (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308781	NM_020638.3(FGF23):c.*1352T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 882046	NM_020638.3(FGF23):c.*1316C>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
Select item 882047	NM_020638.3(FGF23):c.*1292C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 882048	NM_020638.3(FGF23):c.*1219C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
Select item 883198	NM_020638.3(FGF23):c.*1134A>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 308782	NM_020638.3(FGF23):c.*1079A>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
Select item 308783	NM_020638.3(FGF23):c.*1049C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308784	NM_020638.3(FGF23):c.*998C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GLikely benign
Select item 883995	NM_020638.3(FGF23):c.*944G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 308785	NM_020638.3(FGF23):c.*856C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 883996	NM_020638.3(FGF23):c.*784C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308786	NM_020638.3(FGF23):c.*664A>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308787	NM_020638.3(FGF23):c.*614G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308788	NM_020638.3(FGF23):c.*553C>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign
Select item 880706	NM_020638.3(FGF23):c.*460A>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 308789	NM_020638.3(FGF23):c.*388G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GLikely benign
Select item 308790	NM_020638.3(FGF23):c.372_377del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308791	NM_020638.3(FGF23):c.368_373del	FGF23	Deletion (3 prime UTR variant)	Hypophosphatemic Rickets, Dominant +1 more	GUncertain significance
Select item 308793	NM_020638.3(FGF23):c.367_372del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308792	NM_020638.3(FGF23):c.369_372del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308794	NM_020638.3(FGF23):c.340_344del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308795	NM_020638.3(FGF23):c.337_340del	FGF23	Deletion (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome +1 more	GUncertain significance
Select item 308796	NM_020638.3(FGF23):c.*278G>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 882110	NM_020638.3(FGF23):c.*235C>T	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 308797	NM_020638.3(FGF23):c.*182G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 308798	NM_020638.3(FGF23):c.*181T>C	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308799	NM_020638.3(FGF23):c.*93G>A	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308800	NM_020638.3(FGF23):c.*29C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GBenign/Likely benign
Select item 308801	NM_020638.3(FGF23):c.*28C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308802	NM_020638.3(FGF23):c.*23T>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 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 2545793	NM_020638.3(FGF23):c.751A>G (p.Ile251Val)	FGF23 (I251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2864127	NM_020638.3(FGF23):c.739T>C (p.Phe247Leu)	FGF23 (F247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959900	NM_020638.3(FGF23):c.734G>A (p.Arg245His)	FGF23 (R245H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080919	NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)	FGF23 (E242G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 508399	NM_020638.3(FGF23):c.720C>T (p.Gly240=)	FGF23	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1961456	NM_020638.3(FGF23):c.717G>T (p.Thr239=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 308803	NM_020638.3(FGF23):c.716C>T (p.Thr239Met)	FGF23 (T239M)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +3 more	GBenign
Select item 1950107	NM_020638.3(FGF23):c.706G>C (p.Ala236Pro)	FGF23 (A236P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491003	NM_020638.3(FGF23):c.706G>T (p.Ala236Ser)	FGF23 (A236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528995	NM_020638.3(FGF23):c.693A>G (p.Arg231=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383032	NM_020638.3(FGF23):c.691C>T (p.Arg231Ter)	FGF23 (R231*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2573597	NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)	FGF23 (G230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1926246	NM_020638.3(FGF23):c.682del (p.Arg228fs)	FGF23 (R228fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2746664	NM_020638.3(FGF23):c.679G>T (p.Val227Phe)	FGF23 (V227F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718197	NM_020638.3(FGF23):c.679G>A (p.Val227Ile)	FGF23 (V227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377514	NM_020638.3(FGF23):c.675G>T (p.Gly225=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1931449	NM_020638.3(FGF23):c.674G>A (p.Gly225Glu)	FGF23 (G225E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049194	NM_020638.3(FGF23):c.673G>A (p.Gly225Arg)	FGF23 (G225R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485263	NM_020638.3(FGF23):c.662G>A (p.Ser221Asn)	FGF23 (S221N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2885798	NM_020638.3(FGF23):c.640G>A (p.Glu214Lys)	FGF23 (E214K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957771	NM_020638.3(FGF23):c.637G>A (p.Ala213Thr)	FGF23 (A213T)	Single nucleotide variant (missense variant)	not provided	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 64575	NM_020638.3(FGF23):c.623A>G (p.Gln208Arg)	FGF23 (Q208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154783	NM_020638.3(FGF23):c.618T>C (p.Cys206=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972077	NM_020638.3(FGF23):c.615C>T (p.Ser205=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035980	NM_020638.3(FGF23):c.609G>A (p.Pro203=)	FGF23	Single nucleotide variant (synonymous variant)	FGF23-related condition	GLikely benign
Select item 2695519	NM_020638.3(FGF23):c.609G>T (p.Pro203=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189953	NM_020638.3(FGF23):c.605C>T (p.Ala202Val)	FGF23 (A202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915271	NM_020638.3(FGF23):c.603G>A (p.Pro201=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785223	NM_020638.3(FGF23):c.602C>T (p.Pro201Leu)	FGF23 (P201L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996937	NM_020638.3(FGF23):c.598A>G (p.Thr200Ala)	FGF23 (T200A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983542	NM_020638.3(FGF23):c.592C>T (p.Arg198Trp)	FGF23 (R198W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115302	NM_020638.3(FGF23):c.586C>G (p.Arg196Gly)	FGF23 (R196G)	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)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign/Likely benign
Select item 281445	NM_020638.3(FGF23):c.573C>T (p.Asn191=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	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

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