ClinVar for Gene (Select 8074) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3574586	NM_020638.3(FGF23):c.61G>A (p.Val21Ile)	FGF23 (V21I)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574585	NM_020638.3(FGF23):c.210_211del (p.Tyr70_Ser71delinsTer)	FGF23	Deletion (nonsense)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574584	NM_020638.3(FGF23):c.211+1G>A	FGF23	Single nucleotide variant (splice donor variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GLikely pathogenic
Select item 3574582	NM_020638.3(FGF23):c.330G>A (p.Pro110=)	FGF23	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574581	NM_020638.3(FGF23):c.428G>A (p.Arg143Lys)	FGF23 (R143K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574580	NM_020638.3(FGF23):c.446T>C (p.Met149Thr)	FGF23 (M149T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574579	NM_020638.3(FGF23):c.486C>G (p.Asn162Lys)	FGF23 (N162K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574578	NM_020638.3(FGF23):c.544G>A (p.Glu182Lys)	FGF23 (E182K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574577	NM_020638.3(FGF23):c.685G>T (p.Gly229Cys)	FGF23 (G229C)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574576	NM_020638.3(FGF23):c.742G>A (p.Ala248Thr)	FGF23 (A248T)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3574575	NM_020638.3(FGF23):c.746A>T (p.Lys249Met)	FGF23 (K249M)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +1 more	GUncertain significance
Select item 3514958	NM_020638.3(FGF23):c.419G>A (p.Arg140Gln)	FGF23 (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3514956	NM_020638.3(FGF23):c.362A>G (p.Glu121Gly)	FGF23 (E121G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3392387	GRCh37/hg19 12p13.32-13.31(chr12:3602229-5406692)x1	AKAP3, CCND2 +14 more	Copy number loss	not provided	GUncertain significance
Select item 3391851	GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
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 3278641	NM_020638.3(FGF23):c.119T>C (p.Ile40Thr)	FGF23 (I40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3278640	NM_020638.3(FGF23):c.574G>A (p.Val192Met)	FGF23 (V192M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3244432	NC_000012.11:g.(?_4479509)_(4488748_?)del	FGF23	Deletion	not provided	GUncertain significance
Select item 3064003	NM_020638.3(FGF23):c.470T>A (p.Phe157Tyr)	FGF23 (F157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3035980	NM_020638.3(FGF23):c.609G>A (p.Pro203=)	FGF23	Single nucleotide variant (synonymous variant)	FGF23-related disorder	GLikely benign
Select item 2998553	NM_020638.3(FGF23):c.316-14T>C	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2993999	NM_020638.3(FGF23):c.376G>A (p.Val126Ile)	FGF23 (V126I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980276	NM_020638.3(FGF23):c.133G>A (p.Ala45Thr)	FGF23 (A45T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2979678	NM_020638.3(FGF23):c.329C>T (p.Pro110Leu)	FGF23 (P110L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2978912	NM_020638.3(FGF23):c.376G>C (p.Val126Leu)	FGF23 (V126L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976269	NM_020638.3(FGF23):c.324C>T (p.Phe108=)	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 2970416	NM_020638.3(FGF23):c.250G>A (p.Val84Met)	FGF23 (V84M)	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 +2 more	GUncertain significance
Select item 2914452	NM_020638.3(FGF23):c.315+7T>C	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903317	NM_020638.3(FGF23):c.336C>G (p.Asn112Lys)	FGF23 (N112K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900281	NM_020638.3(FGF23):c.529C>A (p.His177Asn)	FGF23 (H177N)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 2885798	NM_020638.3(FGF23):c.640G>A (p.Glu214Lys)	FGF23 (E214K)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 2878921	NM_020638.3(FGF23):c.554C>T (p.Ser185Leu)	FGF23 (S185L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871489	NM_020638.3(FGF23):c.212-18G>A	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2809580	NM_020638.3(FGF23):c.193C>A (p.Pro65Thr)	FGF23 (P65T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791487	NM_020638.3(FGF23):c.21G>C (p.Arg7Ser)	FGF23 (R7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790136	NM_020638.3(FGF23):c.350A>G (p.His117Arg)	FGF23 (H117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788476	NM_020638.3(FGF23):c.80A>G (p.Asn27Ser)	FGF23 (N27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2778835	NM_020638.3(FGF23):c.312A>T (p.Gly104=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778267	NM_020638.3(FGF23):c.486C>T (p.Asn162=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775762	NM_020638.3(FGF23):c.469T>C (p.Phe157Leu)	FGF23 (F157L)	Single nucleotide variant (missense 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 2740658	NM_020638.3(FGF23):c.13C>T (p.Arg5Cys)	FGF23 (R5C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2702988	NM_020638.3(FGF23):c.260G>C (p.Gly87Ala)	FGF23 (G87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695519	NM_020638.3(FGF23):c.609G>T (p.Pro203=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2573597	NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)	FGF23 (G230S)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 2545793	NM_020638.3(FGF23):c.751A>G (p.Ile251Val)	FGF23 (I251V)	Single nucleotide variant (missense variant)	Autosomal dominant hypophosphatemic rickets +2 more	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	PHC1, PIANP +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426570	NC_000012.11:g.(?_4479509)_(4488748_?)dup	FGF23	Duplication	not provided	GUncertain significance
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, CCND2 +7 more	Deletion	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, CCND2 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2421440	NM_020638.3(FGF23):c.451C>G (p.Pro151Ala)	FGF23 (P151A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418171	NM_020638.3(FGF23):c.277T>C (p.Tyr93His)	FGF23 (Y93H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2413945	NM_020638.3(FGF23):c.316-9T>C	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2387450	NM_020638.3(FGF23):c.250G>T (p.Val84Leu)	FGF23 (V84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380375	NM_020638.3(FGF23):c.83C>A (p.Ala28Asp)	FGF23 (A28D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2338375	NM_020638.3(FGF23):c.43A>G (p.Ser15Gly)	FGF23 (S15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319578	NM_020638.3(FGF23):c.406G>C (p.Val136Leu)	FGF23 (V136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190800	NM_020638.3(FGF23):c.474G>T (p.Leu158=)	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 2186561	NM_020638.3(FGF23):c.192A>C (p.Ala64=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171689	NM_020638.3(FGF23):c.340A>G (p.Arg114Gly)	FGF23 (R114G)	Single nucleotide variant (missense variant)	not provided +1 more	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 2108702	NM_020638.3(FGF23):c.418C>T (p.Arg140Trp)	FGF23 (R140W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105502	NM_020638.3(FGF23):c.46_54del (p.Val16_Ser18del)	FGF23	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2103752	NM_020638.3(FGF23):c.58A>G (p.Ser20Gly)	FGF23 (S20G)	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 provided +3 more	GUncertain significance
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 2056925	NM_020638.3(FGF23):c.202A>G (p.Thr68Ala)	FGF23 (T68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018057	NM_020638.3(FGF23):c.315+18G>A	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004596	NM_020638.3(FGF23):c.458C>T (p.Pro153Leu)	FGF23 (P153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986419	NM_020638.3(FGF23):c.550G>A (p.Asp184Asn)	FGF23 (D184N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	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 1974682	NM_020638.3(FGF23):c.212-6C>A	FGF23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974023	NM_020638.3(FGF23):c.114C>T (p.Gly38=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970595	NM_020638.3(FGF23):c.316-3C>T	FGF23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1969899	NM_020638.3(FGF23):c.198T>C (p.His66=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	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 1959900	NM_020638.3(FGF23):c.734G>A (p.Arg245His)	FGF23 (R245H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950107	NM_020638.3(FGF23):c.706G>C (p.Ala236Pro)	FGF23 (A236P)	Single nucleotide variant (missense variant)	not provided +2 more	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 1926246	NM_020638.3(FGF23):c.682del (p.Arg228fs)	FGF23 (R228fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1920283	NM_020638.3(FGF23):c.70G>A (p.Ala24Thr)	FGF23 (A24T)	Single nucleotide variant (missense variant)	not specified +2 more	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 1903829	NM_020638.3(FGF23):c.423G>A (p.Ala141=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897133	NM_020638.3(FGF23):c.189C>T (p.Gly63=)	FGF23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1718197	NM_020638.3(FGF23):c.679G>A (p.Val227Ile)	FGF23 (V227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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