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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FIG4
(S168R)
Single nucleotide variant
(missense variant)
Bilateral parasagittal parieto-occipital polymicrogyria
+2 more
GUncertain significance
FIG4
Single nucleotide variant
(splice donor variant)
Yunis-Varon syndrome
+1 more
GLikely pathogenic
FIG4
Single nucleotide variant
(splice donor variant)
Yunis-Varon syndrome
GUncertain significance
FIG4
Deletion
(splice donor variant)
Charcot-Marie-Tooth disease type 4
+1 more
GPathogenic/Likely pathogenic
FIG4
(R766W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
GUncertain significance
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GConflicting classifications of pathogenicity
FIG4
(I673N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
FIG4
Duplication
(intron variant)
not provided
+5 more
GBenign
FIG4
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 11
+6 more
GBenign/Likely benign
FIG4
Indel
(intron variant)
Amyotrophic lateral sclerosis type 11
+4 more
GLikely benign
FIG4
(F815S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
FIG4
(Q323R)
Single nucleotide variant
(missense variant)
Yunis-Varon syndrome
GUncertain significance
FIG4
Duplication
(intron variant)
Charcot-Marie-Tooth disease
+6 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4J
+4 more
GBenign
FIG4
(R905C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
FIG4
Single nucleotide variant
(splice acceptor variant)
Bilateral parasagittal parieto-occipital polymicrogyria
+2 more
GPathogenic
FIG4
(S787N)
Single nucleotide variant
(missense variant)
Yunis-Varon syndrome
+6 more
GUncertain significance
FIG4
(S762fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 4
+1 more
GPathogenic
FIG4
Inversion
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
FIG4
(Q823*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
FIG4
(W246*)
Single nucleotide variant
(nonsense)
FIG4-related condition
+7 more
GPathogenic
FIG4
(R699C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FIG4
(K278N)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
VAC14
(L308* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
VAC14
(T632M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FIG4
(R699H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+4 more
GUncertain significance
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 4
+7 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(intron variant)
not specified
+7 more
GBenign/Likely benign
FIG4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+7 more
GBenign
FIG4
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 11
+7 more
GBenign
FIG4
(D783V)
Single nucleotide variant
(missense variant)
Yunis-Varon syndrome
+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)
Yunis-Varon syndrome
+7 more
GBenign
FIG4
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
FIG4
(L175P)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+1 more
GConflicting classifications of pathogenicity
FIG4
(K278fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FIG4
(G104D)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
+1 more
GConflicting classifications of pathogenicity
FIG4
(T422fs)
Deletion
(frameshift variant)
Yunis-Varon syndrome
GConflicting classifications of pathogenicity
FIG4
(F98fs)
Deletion
(frameshift variant)
Yunis-Varon syndrome
GPathogenic
FIG4
(I41T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
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