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Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067918, LOC130067919
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068528, LOC130068529
+2634 more
Copy number gain
See cases
GPathogenic
ARMCX5, ARMCX5-GPRASP2
+2634 more
Copy number loss
See cases
GPathogenic
APOO, APOOL
+2634 more
Copy number gain
See cases
GPathogenic
LOC130068308, LOC130068309
+2634 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
LOC126863325, LOC126863326
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863242, LOC126863243
+1629 more
Copy number loss
See cases
GPathogenic
LOC130068075, LOC130068076
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068153, LOC130068154
+1933 more
Copy number loss
See cases
GPathogenic
LOC130068278, LOC130068279
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068310, LOC130068311
+2633 more
Copy number gain
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number loss
See cases
GPathogenic
LOC107988022, LOC107988024
+2629 more
Copy number loss
See cases
GPathogenic
LOC130067944, LOC130067945
+2629 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2634 more
Copy number loss
See cases
GPathogenic
LOC130067929, LOC130067930
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068219, LOC130068220
+2633 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
VAMP7, VBP1
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863224, LOC126863225
+2632 more
Copy number gain
See cases
GPathogenic
LOC121627971, LOC121627972
+2633 more
Copy number loss
See cases
GPathogenic
FUNDC1, FUNDC2
+2633 more
Copy number loss
See cases
GPathogenic
LOC126863244, LOC126863245
+2633 more
Copy number gain
See cases
GPathogenic
MAGED2, MAGED4
+1799 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068098, LOC130068099
+2633 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC126863315, LOC126863316
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068055, LOC130068056
+2612 more
Copy number loss
See cases
GPathogenic
CNKSR2, COL4A5
+2604 more
Copy number gain
See cases
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
LOC130068152, LOC130068153
+2594 more
Copy number gain
See cases
GPathogenic
LOC130068468, LOC130068469
+2594 more
Copy number gain
See cases
GPathogenic
LOC130067984, LOC130067985
+2596 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2586 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+2047 more
Copy number loss
See cases
GPathogenic
LOC130068242, LOC130068243
+2103 more
Copy number loss
See cases
GPathogenic
LOC126863280, LOC126863281
+2099 more
Copy number loss
See cases
GPathogenic
IGBP1, IL2RG
+640 more
Copy number loss
See cases
GPathogenic
LOC130068457, LOC130068458
+824 more
Copy number loss
See cases
GPathogenic
P2RY10, P2RY4
+1590 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068612, LOC130068613
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863288, LOC126863289
+1466 more
Copy number gain
See cases
GPathogenic
LOC130068438, LOC130068439
+1464 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
LOC130068496, LOC130068497
+1244 more
Copy number loss
See cases
GPathogenic
MCTS1, MECP2
+1229 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1230 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+1225 more
Copy number loss
See cases
GPathogenic
LOC130068537, LOC130068538
+1206 more
Copy number loss
See cases
GPathogenic
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LAMP2, LDOC1
+1197 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1193 more
Copy number loss
See cases
GPathogenic
NXF5, PABPC5
+241 more
Copy number loss
See cases
GPathogenic
LOC126863293, LOC126863294
+478 more
Copy number gain
See cases
GPathogenic
LOC130068661, LOC130068662
+1181 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1180 more
Copy number loss
See cases
GPathogenic
LOC130068480, LOC130068481
+1169 more
Copy number gain
See cases
GPathogenic
LOC101927830, LOC101928335
+1159 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1155 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1152 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1150 more
Copy number loss
See cases
GPathogenic
LOC130068508, LOC130068509
+250 more
Copy number gain
See cases
GPathogenic
LOC126863349, LOC129391309
+1143 more
Copy number gain
See cases
GPathogenic
ARL13A, ARMCX1
+133 more
Copy number loss
See cases
GPathogenic
LOC121627985, LOC121627986
+1141 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1123 more
Copy number loss
See cases
GPathogenic
ACSL4, AMMECR1
+224 more
Copy number gain
See cases
GPathogenic
ARL13A, ARMCX4
+20 more
Copy number gain
See cases
GUncertain significance
ARMCX1, ARMCX4
+10 more
Copy number loss
See cases
GPathogenic
TIMM8A
Deletion
Deafness dystonia syndrome
GPathogenic
LOC130068494, TIMM8A
Deletion
Deafness dystonia syndrome
GPathogenic
TIMM8A
Duplication
(3 prime UTR variant)
Deafness dystonia syndrome
GBenign
TIMM8A
(S94R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
TIMM8A
(T84I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
TIMM8A
(R80Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
TIMM8A
(R80*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Deafness dystonia syndrome
GPathogenic
TIMM8A
(L78fs)
Insertion
(3 prime UTR variant +1 more)
Deafness dystonia syndrome
GLikely pathogenic
TIMM8A
(F76L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
TIMM8A
(F76V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
TIMM8A
(Q75*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Deafness dystonia syndrome
GPathogenic
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
TIMM8A
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
TIMM8A
(R69H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
TIMM8A
(V67I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
TIMM8A
(C66W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Deafness dystonia syndrome
GLikely pathogenic
TIMM8A
(A61fs)
Deletion
(3 prime UTR variant +1 more)
Deafness dystonia syndrome
GPathogenic
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