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Links from MedGen

Items: 1 to 100 of 3215

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB4
(K78Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
DHX9
(L237fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease
GLikely pathogenic
SLC12A6
(W347R +4 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
AARS1
(D394Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
DRP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GBenign
NEFL
(I213T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GJB1
(V148I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GBenign
GJB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth Neuropathy X
GLikely benign
GJB1
(L36V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
GUncertain significance
GJB1
(S253N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
Familial amyloid neuropathy
GPathogenic
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
GJB1
(T176I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth Neuropathy X
+1 more
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GBenign
NDRG1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
LOC126860531, NDRG1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
LOC126860531, NDRG1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
NDRG1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
NDRG1
Deletion
(intron variant +1 more)
not provided
+2 more
GBenign/Likely benign
NDRG1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
LOC126860531, NDRG1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4D
+3 more
GBenign/Likely benign
NDRG1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4
+1 more
GLikely benign
MPZ
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+2 more
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
MPZ
(R250W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
MPZ
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
MPZ
(C50S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(N116Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(P70T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(Y220C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(K204N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+1 more
GUncertain significance
MPZ
(L190P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MPZ
(W107R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
(S231C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GConflicting classifications of pathogenicity
MFN2
(E268K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
MFN2
(E266K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+2 more
GUncertain significance
MFN2
(S53R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
(I88V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2A2
+4 more
GUncertain significance
MFN2
(D496E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MFN2
(I253F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
(K316E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
MFN2
(H698R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MFN2
(L724R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
MED25
(G532S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
MED25
(R186Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
MED25
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease
GLikely pathogenic
MARS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+2 more
GBenign/Likely benign
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
+1 more
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
+1 more
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
+1 more
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GUncertain significance
LRSAM1
(T331M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LRSAM1
(R400W +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
+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
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
KIF1B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
KIF1B
(P607H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
(P1031S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
(S603del +1 more)
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
KIF1B
(R1610W +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
KIF1B
(I1698T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GUncertain significance
KIF1B
(R430L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
KIF1B
(L1732V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
IGHMBP2, LOC126861245
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease
+2 more
GLikely benign
IGHMBP2
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+2 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+2 more
GLikely benign
HSPB1
(K123T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
HSPB1
(W51*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2F
+2 more
GConflicting classifications of pathogenicity
HSPB1
(R79W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GBenign
GJB1
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease
GLikely benign
GARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
GARS1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
GARS1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+1 more
GLikely benign
GARS1
(T682P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GARS1
(K423E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
GARS1
(T422S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
FIG4
Duplication
(intron variant)
not provided
+5 more
GBenign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
GLikely benign
TRPV4
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GBenign/Likely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
TRPV4
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+2 more
GLikely benign
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