ClinVar for MedGen (Select 83346) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256616	NM_020638.3(FGF23):c.124C>G (p.Leu42Val)	FGF23 (L42V)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets	GUncertain significance
Select item 2681728	NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)	FGF23	Deletion (inframe_deletion)	Autosomal dominant hypophosphatemic rickets	GLikely pathogenic
Select item 1644357	NM_020638.3(FGF23):c.315+15del	FGF23	Deletion (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign/Likely benign
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 1505152	NM_020638.3(FGF23):c.313T>A (p.Ser105Thr)	FGF23 (S105T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +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 1472123	NM_020638.3(FGF23):c.46G>A (p.Val16Ile)	FGF23 (V16I)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 1427539	NM_020638.3(FGF23):c.559C>G (p.Arg187Gly)	FGF23 (R187G)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	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 1179114	GRCh37/hg19 12p13.32(chr12:4477393-4488878)	FGF23	Copy number loss	Autosomal dominant hypophosphatemic rickets +1 more	GPathogenic
Select item 1025781	NM_020638.3(FGF23):c.64C>T (p.Leu22Phe)	FGF23 (L22F)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
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 884122	NM_020638.3(FGF23):c.-111C>T	FGF23	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant hypophosphatemic rickets +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 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 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 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 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 882414	NM_020638.3(FGF23):c.-53C>G	FGF23	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 882413	NM_020638.3(FGF23):c.60C>T (p.Ser20=)	FGF23	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 882164	NM_020638.3(FGF23):c.138A>G (p.Thr46=)	FGF23	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
Select item 882163	NM_020638.3(FGF23):c.211+12T>G	FGF23	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 882162	NM_020638.3(FGF23):c.249G>A (p.Val83=)	FGF23	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 880770	NM_020638.3(FGF23):c.414G>C (p.Leu138=)	FGF23	Single nucleotide variant (synonymous variant)	Autosomal dominant hypophosphatemic rickets +1 more	GUncertain significance
Select item 880769	NM_020638.3(FGF23):c.457C>G (p.Pro153Ala)	FGF23 (P153A)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
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 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 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 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 804799	NM_020638.3(FGF23):c.211+19T>C	FGF23	Single nucleotide variant (intron variant)	Autosomal dominant hypophosphatemic rickets +2 more	GBenign
Select item 755722	NM_020638.3(FGF23):c.555G>A (p.Ser185=)	FGF23	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 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 308810	NM_020638.3(FGF23):c.-55C>A	FGF23	Single nucleotide variant (5 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308809	NM_020638.3(FGF23):c.-23C>T	FGF23	Single nucleotide variant (5 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308808	NM_020638.3(FGF23):c.57G>A (p.Met19Ile)	FGF23 (M19I)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 308807	NM_020638.3(FGF23):c.331G>A (p.Glu111Lys)	FGF23 (E111K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +3 more	GConflicting classifications of pathogenicity
Select item 308806	NM_020638.3(FGF23):c.515C>T (p.Pro172Leu)	FGF23 (P172L)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GConflicting classifications of pathogenicity
Select item 308805	NM_020638.3(FGF23):c.551A>G (p.Asp184Gly)	FGF23 (D184G)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GConflicting classifications of pathogenicity
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 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 308802	NM_020638.3(FGF23):c.*23T>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign
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 308800	NM_020638.3(FGF23):c.*29C>G	FGF23	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 279873	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX, PTCHD1-AS (R747*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant hypophosphatemic rickets +2 more	GPathogenic/Likely pathogenic
Select item 36135	NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)	FGF23 (R179Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 36134	NM_020638.3(FGF23):c.162G>C (p.Gln54His)	FGF23 (Q54H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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

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Items: 75