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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
FGF23
& Disease:
HFTC1
, 11 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
5027
FGF23
c.211A>G
p.Ser71Gly (p.S71G)
NM_020638.3
M
SNV
P
2
+
5
444061
FGF23
c.385T>C
p.Ser129Pro (p.S129P)
NM_020638.3
M
SNV
P
2
+
1
216929
FGF23
c.260G>A
p.Gly87Asp (p.G87D)
NM_020638.3
M
SNV
LP
1
+
1
308780
FGF23
c.*1380TTC[1]
--
NM_020638.3
M
MS
VUS
1
+
0
308791
FGF23
c.*368_*373del
--
NM_020638.3
M
Del
VUS
1
+
0
308792
FGF23
c.*369_*372del
--
NM_020638.3
M
Del
VUS
1
+
0
308790
FGF23
c.*372_*377del
--
NM_020638.3
M
Del
VUS
1
+
0
308794
FGF23
c.*340_*344del
--
NM_020638.3
M
Del
VUS
1
+
0
308795
FGF23
c.*337_*340del
--
NM_020638.3
M
Del
VUS
1
+
0
444062
FGF23
c.367G>T
p.Gly123Trp (p.G123W)
NM_020638.3
M
SNV
P
1
+
0
308793
FGF23
c.*367_*372del
--
NM_020638.3
M
Del
VUS
1
+
0
11 Results, 20 per Page
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