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Items: 1 to 100 of 151

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
LOC130067920, LOC130067921
+1476 more
Copy number loss
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
LOC125467739, LOC125467740
+1494 more
Copy number loss
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
HDAC8, HDX
+410 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
ABCB7, AMER1
+263 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, AR
+206 more
Duplication
Xq13q21 duplication
GPathogenic
ABCB7, AR
+206 more
Copy number gain
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
FGF16
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FGF16
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATRX, FGF16
Copy number gain
See cases
GPathogenic
FGF16
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FGF16
Duplication
not provided
GLikely pathogenic
FGF16
(A100S)
Single nucleotide variant
(missense variant)
Neoplasm
OUncertain significance
FGF16
Duplication
(intron variant)
not provided
GBenign
FGF16
Duplication
(intron variant)
not provided
GLikely benign
FGF16
Deletion
(intron variant)
not provided
GLikely benign
FGF16
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FGF16
(Q138*)
Single nucleotide variant
(nonsense)
FGF16-related disorder
GLikely pathogenic
ATRX, FGF16
Copy number gain
See cases
GPathogenic
FGF16
(S157*)
Single nucleotide variant
(nonsense)
Syndactyly type 8
GPathogenic
FGF16
(L165P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGF16
(K178N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGF16
(R179*)
Single nucleotide variant
(nonsense)
Syndactyly type 8
GPathogenic
FGF16
(Y206C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FGF16
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ABCB7, ABCD1
+526 more
Duplication
Hereditary factor VIII deficiency disease
GUncertain significance
ABCB7, AMER1
+92 more
Copy number gain
not specified
GPathogenic
ABCB7, APOOL
+121 more
Copy number gain
not specified
GPathogenic
CT47A5, NXF3
+488 more
Copy number gain
not provided
GPathogenic
ABCB7, APOOL
+39 more
Copy number loss
not provided
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ATRX, FGF16
+3 more
Copy number gain
not provided
GUncertain significance
ATP7A, ATRX
+6 more
Copy number gain
not provided
GUncertain significance
ATP7A, PGAM4
+5 more
Copy number gain
not provided
GUncertain significance
ABCB7, ABCD1
+790 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ABCB7, ABCD1
+501 more
Copy number loss
Turner syndrome
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
Turner syndrome
GPathogenic
AKAP14, CT47A11
+819 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ATRX, FGF16
Copy number gain
not specified
GUncertain significance
APOOL, ABCB7
+49 more
Copy number gain
not specified
GUncertain significance
AWAT1, AWAT2
+92 more
Copy number gain
not specified
GPathogenic
NALF2, NAP1L2
+92 more
Copy number gain
not specified
GPathogenic
RADX, RAI2
+818 more
Copy number loss
not provided
GPathogenic
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