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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FIG4
(I411V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
GUncertain significance
FIG4
(S168R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
+2 more
GUncertain significance
FIG4
(M132V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
GUncertain significance
FIG4
(S258*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4J
+1 more
GPathogenic/Likely pathogenic
FIG4
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4J
GLikely pathogenic
FIG4
(Y134H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
GUncertain significance
FIG4
(I902T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
FIG4
(L726fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4J
GPathogenic
FIG4
(S276F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
FIG4
(R766W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
FIG4
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FIG4
Duplication
(intron variant)
not provided
+5 more
GBenign
FIG4
Duplication
(intron variant)
not provided
+6 more
GBenign/Likely benign
FIG4
Indel
(intron variant)
Amyotrophic lateral sclerosis type 11
+4 more
GLikely benign
FIG4
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
(T741M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
FIG4
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GUncertain significance
FIG4
(M897T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GUncertain significance
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
Charcot-Marie-Tooth disease type 4J
+1 more
GUncertain significance
FIG4
(F815S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
FIG4
(I220V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+5 more
GConflicting classifications of pathogenicity
FIG4
(P851L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FIG4
Duplication
(intron variant)
Yunis-Varon syndrome
+6 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+4 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+5 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(splice acceptor variant)
Bilateral parasagittal parieto-occipital polymicrogyria
+2 more
GPathogenic
FIG4
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FIG4
(K559*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
GPathogenic
FIG4
Indel
(nonsense)
Charcot-Marie-Tooth disease type 4J
+1 more
GUncertain significance
FIG4
(G264fs)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease type 4J
+1 more
GUncertain significance
FIG4
(E767fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic
FIG4
(K663fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4
GPathogenic
FIG4
(K383fs)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
FIG4
(R69C)
Single nucleotide variant
(missense variant)
FIG4-related disorder
+5 more
GUncertain significance
FIG4
(S787N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
FIG4
(Q796*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+1 more
GPathogenic/Likely pathogenic
FIG4
(G214R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+5 more
GConflicting classifications of pathogenicity
FIG4
(R37C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FIG4
(R265*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4J
+3 more
GPathogenic
FIG4
(R899*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+2 more
GUncertain significance
FIG4
(Q823*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+3 more
GPathogenic/Likely pathogenic
FIG4
(W246*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
+7 more
GPathogenic
FIG4
(L458fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
FIG4
(K278N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
+8 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+6 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+5 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
FIG4
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
FIG4
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
FIG4
Single nucleotide variant
(synonymous variant)
FIG4-related disorder
+3 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+2 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+5 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
FIG4
(R820S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4J
+2 more
GUncertain significance
FIG4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FIG4
(R699H)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 11
+5 more
GUncertain significance
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+5 more
GConflicting classifications of pathogenicity
FIG4
(F598Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
FIG4
(T556fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+3 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
FIG4
(A117V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FIG4
(R88*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 11
+2 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4J
+2 more
GConflicting classifications of pathogenicity
FIG4
(G79R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
(Y58C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
FIG4
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 11
+1 more
GUncertain significance
FIG4
Single nucleotide variant
Amyotrophic lateral sclerosis type 11
+2 more
GBenign/Likely benign
FIG4
(T270A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 11
+7 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+7 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(intron variant)
Yunis-Varon syndrome
+7 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FIG4
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
FIG4
(Y647C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+5 more
GUncertain significance
FIG4
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 11
+2 more
GPathogenic
FIG4
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic
FIG4
(E734K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 11
+3 more
GUncertain significance
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+5 more
GBenign/Likely benign
FIG4
(R381*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
FIG4
(S856L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GUncertain significance
FIG4
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease type 4J
GLikely pathogenic
FIG4
(E302K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
FIG4
(L17P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
FIG4
(V654A)
Single nucleotide variant
(missense variant)
Bilateral parasagittal parieto-occipital polymicrogyria
+7 more
GBenign
FIG4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+9 more
GBenign/Likely benign
FIG4
(M364L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 11
+4 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 11
+4 more
GBenign
FIG4
(K278fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
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