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Items: 1 to 100 of 848

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+307 more
Copy number gain
See cases
GPathogenic
CCDC157, DUSP18
+54 more
Copy number gain
See cases
GUncertain significance
MORC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MORC2
(D1029Y +2 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
GUncertain significance
MORC2
(I1028V +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(A1019T +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(T1013A +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(D1008N +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
+1 more
GLikely pathogenic
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
+1 more
GConflicting classifications of pathogenicity
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
not provided
GBenign
MORC2
Single nucleotide variant
(intron variant)
not provided
GBenign
MORC2
Single nucleotide variant
(intron variant)
not provided
GBenign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Indel
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
+2 more
GBenign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(E1010Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(A941V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(A1003T +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(V940M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(N938D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GBenign
MORC2
(K934* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MORC2
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(E992del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MORC2
(T990M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(T928P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(R988H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
+1 more
GUncertain significance
MORC2
(R926C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(E922K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(T920A +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(R919C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(A913D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MORC2
(K912M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MORC2
(R972Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(R910W +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(S909F +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(R906H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(R906C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(Q904* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MORC2
(N963S +1 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
+3 more
GConflicting classifications of pathogenicity
MORC2
(N960K +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
+1 more
GUncertain significance
MORC2
(F889C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(L947V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MORC2
(I881V +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(N876S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(M875T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(Q871P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(K932N +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(K932fs +1 more)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease, type I
GUncertain significance
MORC2
(F865L +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(S864G +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
(R858Q +1 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GBenign
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Microsatellite
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
MORC2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Deletion
(intron variant)
MORC2-related disorder
+4 more
GBenign/Likely benign
MORC2
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
(R854Q +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Z
GUncertain significance
MORC2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2Z
GLikely benign
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