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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTMR14
(G231R +27 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNM2, LOC130063529
(V13L)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(R590K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GLikely pathogenic
MYF6
(P49A)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(D610N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GLikely pathogenic
MYF6
(R217*)
Single nucleotide variant
(nonsense)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(S31P)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(F6C)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(T92fs)
Duplication
(frameshift variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(P35L)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(A408S)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(A328T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
MYF6
(A98S)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GBenign
MYF6
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
GLikely benign
MYF6
Single nucleotide variant
(intron variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(S228L)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(R94W)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(Q171E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYF6
(P65S)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2, LOC130063529
(G2S)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(I518L)
Single nucleotide variant
(intron variant +1 more)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
DNM2
(F804S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
MTMR14
(R67*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MYF6
(I208T)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(K96N)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(H61Q)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(R231G)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
(E646K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GPathogenic
MTMR14
(F392L)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MTMR14
(A464T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNM2
(L793del +1 more)
Deletion
(inframe_deletion)
Autosomal dominant centronuclear myopathy
GUncertain significance
DNM2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
DNM2, LOC130063529
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GBenign
DNM2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
DNM2
(R467Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(P813L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(S807F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(D429N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GBenign
DNM2
(S805L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(A728T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GBenign/Likely benign
DNM2
(T504M)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+2 more
GUncertain significance
DNM2
(P275T)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(D270N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DNM2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
MYF6
(P74S)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
MYF6
(E59V)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(R118G)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(Q153H)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
ASIC4-AS1, SPEG
(I2324N)
Single nucleotide variant
(missense variant)
SPEG-related disorder
+1 more
GUncertain significance
MTMR14
(R382W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
MYF6
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
GLikely benign
MYF6
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
GLikely benign
DNM2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GBenign
DNM2
(E600K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
+1 more
GConflicting classifications of pathogenicity
DNM2
(R166Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYF6
(V27M)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GConflicting classifications of pathogenicity
DNM2
(A614S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
(I232T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MTM1
(N511K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
MYOD1
(R188fs)
Duplication
(frameshift variant)
Autosomal dominant centronuclear myopathy
+1 more
GPathogenic
MTMR14
(R597Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PTPRQ, MYF6
+2 more
Deletion
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(G196E)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
MYF6
(W187R)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GConflicting classifications of pathogenicity
DNM2
(R66Q)
Single nucleotide variant
(missense variant)
Fetal akinesia-cerebral and retinal hemorrhage syndrome
+2 more
GUncertain significance
DNM2
(R364C)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
MYF6
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
GLikely benign
DNM2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease dominant intermediate B
+2 more
GLikely benign
DNM2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MYF6
(D192A)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(T182P)
Single nucleotide variant
(missense variant)
MYF6-related disorder
+1 more
GBenign/Likely benign
MYF6
(D16N)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
Single nucleotide variant
(synonymous variant)
Autosomal dominant centronuclear myopathy
GBenign
MYF6
(L116P)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GLikely benign
MYF6
(E111Q)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GUncertain significance
MYF6
(A90D)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GBenign/Likely benign
MYF6
(V62I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNM2
(G786C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
GUncertain significance
DNM2
(A618D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+1 more
GPathogenic
MYF6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DNM2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GBenign
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GBenign
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GBenign
DNM2
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant centronuclear myopathy
+1 more
GUncertain significance
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