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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBF1
(V186L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease, dominant intermediate A
+1 more
GUncertain significance
GBF1
(E1040K +9 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance
GBF1
(A1703V +13 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance
GBF1
(G1634A +12 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance
GBF1
(P812fs +7 more)
Deletion
(frameshift variant +2 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
+1 more
GUncertain significance
GBF1
(S1299R +8 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
GUncertain significance
GBF1
(A1039V +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
+1 more
GPathogenic/Likely pathogenic
GBF1
(W1077* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
+1 more
GPathogenic/Likely pathogenic
GBF1
(C884Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
+1 more
GPathogenic/Likely pathogenic
GBF1
(R1363Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Disease, axonal, type 2GG
+1 more
GPathogenic/Likely pathogenic
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