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Items: 1 to 100 of 1031

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCYAP1, AFG3L2
+379 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+373 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+378 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+161 more
Copy number loss
See cases
GPathogenic
LINC00668, LINC01254
+379 more
Copy number gain
See cases
GPathogenic
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
ZBTB14, ADCYAP1
+162 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+195 more
Copy number loss
See cases
GPathogenic
LOC129390958, LOC130062070
+300 more
Copy number gain
See cases
GUncertain significance
NDUFV2-AS1, PIEZO2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+120 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+145 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+184 more
Copy number loss
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+118 more
Copy number loss
See cases
GLikely pathogenic
LOC130062167, LOC130062168
+367 more
Copy number loss
See cases
GPathogenic
LOC125338465, LOC125338466
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+237 more
Copy number loss
See cases
GPathogenic
LOC130062104, LOC130062105
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+83 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+120 more
Copy number loss
See cases
GPathogenic
LOC130062144, LOC130062145
+368 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+114 more
Copy number loss
See cases
GPathogenic
EMILIN2, ADCYAP1
+63 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+245 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+143 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+327 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+344 more
Copy number loss
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
SLC35G4, SMCHD1
+375 more
Copy number gain
See cases
GPathogenic
LOC129390955, LOC129390956
+358 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+131 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+127 more
Copy number loss
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
ADCYAP1, AKAIN1
+241 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+113 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+246 more
Copy number loss
See cases
GPathogenic
LOC130062147, LOC130062148
+339 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+230 more
Copy number gain
See cases
GPathogenic
LOC130062117, LOC130062118
+109 more
Copy number loss
See cases
GPathogenic
EMILIN2, LOC112538445
+20 more
Copy number gain
See cases
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Deletion
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Duplication
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Microsatellite
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Microsatellite
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Deletion
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GBenign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GLikely benign
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
LPIN2
Single nucleotide variant
(3 prime UTR variant)
Majeed syndrome
GUncertain significance
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