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Items: 1 to 100 of 163

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
ABHD3, ACAA2
+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, AKAIN1
+184 more
Copy number loss
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062167, LOC130062168
+367 more
Copy number loss
See cases
GPathogenic
LOC125338465, LOC125338466
+367 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, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 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
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+245 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
ANKRD12, ANKRD29
+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
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+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
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
ARHGAP28, ARHGAP28-AS1
+14 more
Copy number gain
See cases
GUncertain significance
ARHGAP28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGAP28
(H30Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(D194Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(E42K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(E101D +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGAP28
(A109V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(K225E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(K118R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(A124T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(M243I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(S284F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(I297M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(V370L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(R338G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28, LAMA1
+12 more
Copy number gain
See cases
GBenign
ARHGAP28
(D284G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(K331E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(A343V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(R349T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(S484Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(K497E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(E395D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(N401S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(R515C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
Single nucleotide variant
(intron variant)
ARHGAP28-related disorder
GLikely benign
ARHGAP28
(T435M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ARHGAP28
(V625I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(S579L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(R582Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28, LAMA1
+9 more
Copy number gain
See cases
GUncertain significance
ARHGAP28
(P480L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(Q673R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(C683Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARHGAP28
(K685E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(H542R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(A707V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28
(K565E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP28, LAMA1
+6 more
Copy number gain
See cases
GUncertain significance
ANKRD12, ARHGAP28
+47 more
Copy number gain
See cases
GUncertain significance
ADCYAP1, AKAIN1
+28 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number loss
not specified
GPathogenic
ARHGAP28, LAMA1
+1 more
Copy number gain
not specified
GUncertain significance
AFG3L2, AKAIN1
+51 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AKAIN1
+38 more
Copy number loss
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+63 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not specified
GPathogenic
ADCYAP1, AKAIN1
+28 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AFG3L2
+64 more
Copy number loss
not provided
GPathogenic
ADCYAP1, AFG3L2
+65 more
Copy number gain
not provided
GPathogenic
ARHGAP28, L3MBTL4
+4 more
Copy number gain
not provided
GUncertain significance
ADCYAP1, AFG3L2
+65 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
AKAIN1, ARHGAP28
+6 more
Copy number loss
not provided
GUncertain significance
ARHGAP28, LAMA1
Copy number loss
not provided
GUncertain significance
ADCYAP1, AKAIN1
+26 more
Copy number loss
not provided
GPathogenic
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