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Items: 1 to 100 of 134

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
LOC130068369, LOC130068370
+1399 more
Copy number gain
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
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
LOC126863242, LOC126863243
+1629 more
Copy number loss
See cases
GPathogenic
LOC130068348, LOC130068349
+1164 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
ACE2, ACE2-DT
+1164 more
Copy number loss
See cases
GPathogenic
SYP, SYP-AS1
+1164 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
CLCN4, CLCN5
+1155 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
ACE2, ACE2-DT
+1131 more
Copy number loss
See cases
GPathogenic
MAGED2, MAGED4
+1799 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
LOC130067990, LOC130067991
+1217 more
Copy number loss
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
PAGE4, PAGE5
+1164 more
Copy number loss
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
RBM10, RBM3
+1131 more
Copy number loss
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
AKAP4, ALAS2
+343 more
Copy number gain
See cases
GPathogenic
IGBP1, IL2RG
+640 more
Copy number loss
See cases
GPathogenic
LOC130068457, LOC130068458
+824 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+162 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+162 more
Copy number gain
See cases
GPathogenic
ALAS2, APEX2
+146 more
Copy number gain
See cases
GPathogenic
LOC130068353, LOC130068354
+169 more
Copy number gain
See cases
GPathogenic
P2RY10, P2RY4
+1590 more
Copy number loss
See cases
GPathogenic
ALAS2, APEX2
+93 more
Copy number gain
See cases
GPathogenic
ALAS2, APEX2
+92 more
Copy number gain
See cases
GPathogenic
HDAC8, HDX
+410 more
Copy number loss
See cases
GPathogenic
MAGED2, SNORA11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ABCB7, ABCD1
+526 more
Duplication
Hereditary factor VIII deficiency disease
GUncertain significance
ACE2, ACOT9
+314 more
Copy number loss
not specified
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not specified
GPathogenic
FAM120C, FGD1
+8 more
Copy number gain
not provided
GUncertain significance
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ALAS2, APEX2
+19 more
Deletion
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
FAM120C, FGD1
+8 more
Copy number gain
not provided
GUncertain significance
ALAS2, AMER1
+34 more
Copy number gain
not provided
GLikely pathogenic
ABCB7, ABCD1
+790 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ACE2, ACOT9
+315 more
Copy number loss
Turner syndrome
GPathogenic
ADGRG2, ACE2
+309 more
Complex
Turner syndrome
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
Turner syndrome
GPathogenic
AKAP14, CT47A11
+819 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ALAS2, APEX2
+33 more
Copy number gain
not specified
GLikely pathogenic
RADX, RAI2
+818 more
Copy number loss
not provided
GPathogenic
GPM6B, KLHL15
+818 more
Copy number gain
not provided
GPathogenic
ALAS2, APEX2
+32 more
Copy number gain
not provided
GPathogenic
KLHL34, KLHL4
+818 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+309 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+304 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not provided
GPathogenic
ABCB7, AKAP4
+268 more
Inversion
Elevated circulating creatine kinase concentration
GLikely pathogenic
ARHGAP36, ARHGAP4
+818 more
Copy number loss
not provided
GPathogenic
RBBP7, RBM10
+316 more
Copy number loss
not provided
GPathogenic
BEX1, BEX2
+818 more
Copy number gain
not provided
GPathogenic
ABCB7, AKAP4
+281 more
Copy number loss
not provided
GPathogenic
AKAP14, CCDC22
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
RPS6KA6, UPRT
+413 more
Copy number gain
not provided
GPathogenic
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
EIF1AX, EIF2S3
+539 more
Copy number loss
See cases
GPathogenic
PNMA5, PNMA6A
+695 more
Copy number loss
See cases
GPathogenic
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