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Items: 1 to 100 of 3063

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935871, LOC129935872
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+630 more
Copy number gain
See cases
GPathogenic
LOC129935973, LOC129935974
+576 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
LOC129935973, LOC129935974
+455 more
Copy number loss
See cases
GPathogenic
LOC129935990, LOC129935991
+361 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+359 more
Copy number loss
See cases
GPathogenic
LOC132090688, LOC132090689
+325 more
Copy number loss
See cases
GPathogenic
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
HDAC4, HDAC4-AS1
+334 more
Copy number loss
See cases
GPathogenic
PRLH, PRR21
+325 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+318 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+314 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+311 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+309 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+303 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+298 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+288 more
Copy number loss
See cases
GPathogenic
LOC122889015, LOC122889016
+287 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+276 more
Copy number loss
See cases
GPathogenic
GPC1-AS1, GPR35
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+274 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+271 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
LOC129935970, LOC129935971
+251 more
Copy number loss
See cases
GPathogenic
COPS9, CROCC2
+250 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+235 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+171 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+185 more
Copy number loss
See cases
GPathogenic
PRR21, RNPEPL1
+84 more
Deletion
Primary hyperoxaluria, type I
GPathogenic
LOC129936021, LOC129936022
+144 more
Copy number loss
See cases
GPathogenic
LOC110121227, LOC110599582
+143 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+145 more
Copy number loss
See cases
GPathogenic
FAM240C, FARP2
+143 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+138 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GUncertain significance
AGXT, ANKMY1
+131 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+127 more
Copy number loss
See cases
GLikely pathogenic
LOC132088835, LOC132088836
+96 more
Copy number loss
See cases
GLikely pathogenic
AQP12A, KIF1A
+2 more
Copy number gain
See cases
GBenign/Likely benign
LOC129936008, LOC129936009
+47 more
Copy number gain
See cases
GPathogenic
KIF1A
Duplication
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GLikely benign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Deletion
(3 prime UTR variant)
Hereditary sensory and autonomic neuropathy type 2
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GUncertain significance
KIF1A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 30
GBenign
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