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Links from MedGen

Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LITAF
(G112D)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(A38T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P73S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(D139H)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(T78A)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Deletion
(intron variant)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(T45M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(V81L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(T157S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(N72S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(A153V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(N150S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(P91S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(W116C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P34S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P135A)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely pathogenic
LITAF
(L161F)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Duplication
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P59R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(N150K)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(S2L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(G50V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(M1I)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(I128V)
Single nucleotide variant
(3 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(G120R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(C131Y)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(N150K)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(A19V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(C95Y)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(P17L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GConflicting classifications of pathogenicity
LITAF
(V48A)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
(F136S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(A111V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
PRM3, TEKT5
+20 more
Duplication
MHC class II deficiency
+1 more
GUncertain significance
LITAF
(C137G)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(N150H)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Deletion
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(T78M)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GUncertain significance
LITAF
(P58L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(G130A)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(Y61C)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P91R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GUncertain significance
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 1C
GLikely benign
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(A16S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(A66V)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(Y158C)
Single nucleotide variant
(3 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(M56fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(C95R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Deletion
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(V104L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(G42W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LITAF
(C137R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(A9V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LITAF
(G53R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GConflicting classifications of pathogenicity
LITAF
(A19T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GConflicting classifications of pathogenicity
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
+1 more
GUncertain significance
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
+1 more
GLikely benign
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
+1 more
GLikely benign
LITAF
(P67S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GUncertain significance
LITAF
(R90H)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
+1 more
GUncertain significance
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(C123Y)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GBenign
LITAF
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LITAF
(V144L)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(L125P)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P6L)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(P58S)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
Duplication
Charcot-Marie-Tooth disease type 1C
GUncertain significance
LITAF
(T11I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
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