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Items: 1 to 100 of 225

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
LOC130004881, LOC130004882
+418 more
Copy number loss
See cases
GPathogenic
LOC130005014, LOC130005015
+409 more
Copy number loss
See cases
GPathogenic
FUOM, GLRX3
+399 more
Copy number loss
See cases
GPathogenic
LOC130004911, LOC130004912
+395 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+383 more
Copy number loss
See cases
GPathogenic
LOC130004994, LOC130004995
+361 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+331 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+311 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+297 more
Copy number loss
See cases
GPathogenic
LOC130005026, LOC130005027
+257 more
Copy number loss
See cases
GPathogenic
LOC126861090, LOC126861091
+250 more
Copy number loss
See cases
GPathogenic
ADAM12, ADAM8
+241 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+234 more
Copy number loss
See cases
GPathogenic
LOC126861083, LOC126861084
+201 more
Copy number loss
Duane syndrome type 1
+1 more
GPathogenic
ADAM12, ADAM8
+207 more
Copy number loss
See cases
GPathogenic
LOC130005011, LOC130005012
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+192 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+190 more
Copy number gain
See cases
GLikely pathogenic
ADAM8, ADGRA1
+189 more
Copy number loss
See cases
GPathogenic
LOC130004973, LOC130004974
+170 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+168 more
Copy number gain
See cases
GPathogenic
ADAM8, ADGRA1
+165 more
Copy number loss
See cases
GPathogenic
LOC130004974, LOC130004975
+163 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+158 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+135 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GLikely pathogenic
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+115 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+105 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+69 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+79 more
Copy number loss
See cases
GPathogenic
CFAP46, INPP5A
+1 more
Duplication
Normal pregnancy
Gnot provided
CFAP46
(I2707V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(G2691S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2685Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP46
(R2657C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFAP46
(A2633T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2633P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(H2620N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(W2596R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2595V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2595T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2591W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(A2578T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2572Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(E2553G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(E2525K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(E2522D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2512G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2506I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2496T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2491A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2470V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(Q2466R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(D2439E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(P2433L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2418I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(K2416R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(P2405S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2401W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(G2394S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2391V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(K2369E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2366C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(E2357G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2356Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(I2327V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(T2311M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(E2308K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2294V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(S2286F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(S2267R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(L2265P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(I2246M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2237M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2230Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2230W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(I2214V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP46
(P2190S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(L2173P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(T2167A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(Q2149H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2144M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(R2136C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2114V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(S2110G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(S2092L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(G2074S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2062S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(V2052E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP46
(A2042V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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