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Items: 1 to 100 of 305

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
ACTN2, ADSS2
+302 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+283 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+280 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+280 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+278 more
Copy number loss
See cases
GPathogenic
LOC132088686, LOC440742
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+275 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
KMO, LINC01341
+274 more
Copy number gain
See cases
GPathogenic
ADSS2, AHCTF1
+273 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+265 more
Copy number loss
See cases
GPathogenic
OR2T34, OR2T35
+254 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+244 more
Copy number loss
See cases
GPathogenic
TFB2M, TRE-CTC2-1
+238 more
Copy number gain
See cases
GPathogenic
ADSS2, AHCTF1
+231 more
Copy number gain
See cases
GPathogenic
TRIM58, TRL-CAA4-1
+236 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AHCTF1
+227 more
Copy number loss
See cases
GPathogenic
AHCTF1, C1orf202
+203 more
Copy number loss
See cases
GPathogenic
AHCTF1, CNST
+169 more
Copy number gain
See cases
GPathogenic
GCSAML, GCSAML-AS1
+49 more
Copy number gain
See cases
GLikely benign
GCSAML, GCSAML-AS1
+49 more
Copy number gain
See cases
GUncertain significance
GCSAML, LOC102724446
+17 more
Copy number gain
See cases
GBenign
LOC102724446, LOC115804254
+20 more
Copy number gain
See cases
GBenign
LOC102724446, LOC115804254
+39 more
Copy number gain
See cases
GBenign
LOC115804254, LOC126806088
+25 more
Copy number gain
See cases
GBenign
LOC115804254, LOC126806088
+36 more
Copy number gain
See cases
GBenign
LOC115804254, LOC126806088
+39 more
Copy number gain
See cases
GBenign
LOC115804254, LOC129388811
+17 more
Copy number gain
See cases
GBenign
LOC115804254, LOC129388811
+17 more
Copy number gain
See cases
GBenign
LOC115804254, LOC126806088
+39 more
Copy number gain
See cases
GBenign
LOC115804254, LOC129388811
+17 more
Copy number gain
See cases
GBenign
LOC115804254, LOC126806088
+23 more
Copy number loss
See cases
GLikely benign
LOC115804254, LOC126806088
+31 more
Copy number gain
See cases
GBenign
OR2W3
(N5T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2W3
(S7N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(H11R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OR2W3
(R20*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
OR2W3
(R20Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OR2W3
(L23M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(V30I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(L32R)
Single nucleotide variant
(missense variant)
not provided
GBenign
OR2W3
Deletion
(inframe_deletion)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(A34T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OR2W3
(A34V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(Y35*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(L39I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(V40I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(T43S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(R50W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(H54fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(P53T)
Single nucleotide variant
(missense variant)
not provided
GBenign
OR2W3
(P53L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(H56Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(H56R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(P58S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2W3
(P58T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(P58L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(Y60C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(F61Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(F61S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(A64S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(A64T)
Single nucleotide variant
(missense variant)
not provided
GBenign
OR2W3
(A64V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OR2W3
(H65Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2W3
(H65R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(S67A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(D70E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
OR2W3
(S72G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2W3
(I78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(I78fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
OR2W3
(I78S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OR2W3
(P79S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance

Items: 1 to 100 of 305

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