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Items: 1 to 100 of 802

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
ADCYAP1R1, AQP1
+85 more
Copy number gain
See cases
GPathogenic
GARS1
Single nucleotide variant
not provided
GBenign
GARS1
Single nucleotide variant
not provided
GLikely benign
GARS1
Single nucleotide variant
not provided
GBenign
GARS1
Single nucleotide variant
Neuronopathy, distal hereditary motor, type 5A
+3 more
GBenign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GBenign
GARS1
Single nucleotide variant
Charcot-Marie-Tooth disease type 2D
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Neuronopathy, distal hereditary motor, type 5A
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
not provided
+3 more
GBenign
GARS1
Single nucleotide variant
Neuronopathy, distal hereditary motor, type 5A
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant)
Neuronopathy, distal hereditary motor, type 5A
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2D
+2 more
GBenign
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2D
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 2D
+1 more
Gnot provided
GARS1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Distal spinal muscular atrophy
+2 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
GARS1
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
(M1I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
GARS1
(P2L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(S3Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(P4R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(P4L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+6 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(P6L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(V7L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
GARS1
(V7G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GARS1
(R10G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(G11S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GARS1
(A12T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2D
GUncertain significance
GARS1
(R13C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
(R13P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GARS1
(R13P)
Indel
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(A15T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(A15V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
Microsatellite
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
Microsatellite
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GConflicting classifications of pathogenicity
GARS1
(L16V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GARS1
(L20del)
Microsatellite
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GBenign/Likely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
GARS1
(L18M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
GARS1
(L20P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+2 more
GConflicting classifications of pathogenicity
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(A26fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GARS1
(R27Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GARS1
(L32V)
Indel
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+5 more
GBenign
GARS1
(L32P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GBenign
GARS1
(R34W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
GARS1
(R34L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(R34Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
(S35F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GARS1
(S35C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(S37I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GARS1
(S37N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(S37fs)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(A38T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
+1 more
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(C41*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(P42fs)
Insertion
(frameshift variant +1 more)
Motor neuron disease
GUncertain significance
GARS1
(P42T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
GARS1
(P42A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+7 more
GBenign
GARS1
(P42L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(P43R)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
(P43L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GBenign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
GARS1
(I44L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
GARS1
(I44S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GUncertain significance
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
GARS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 2
GLikely benign
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