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Items: 1 to 100 of 323

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
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
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
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
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
LOC126863349, LOC129391309
+1143 more
Copy number gain
See cases
GPathogenic
LOC121627985, LOC121627986
+1141 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+1123 more
Copy number loss
See cases
GPathogenic
MAGEA8-AS1, MAGEA9
+1075 more
Copy number loss
See cases
GPathogenic
LOC130068847, LOC130068848
+1002 more
Copy number loss
See cases
GPathogenic
LOC130068862, LOC130068863
+1001 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+996 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+909 more
Copy number loss
See cases
GPathogenic
MTMR1, NAA10
+831 more
Copy number gain
See cases
GPathogenic
ABCD1, ACTRT1
+883 more
Copy number loss
See cases
GPathogenic
ABCD1, ACTRT1
+869 more
Copy number loss
See cases
GPathogenic
ACTRT1, ADGRG4
+449 more
Copy number gain
See cases
GPathogenic
ABCD1, ACTRT1
+833 more
Copy number loss
See cases
GPathogenic
MAGEA10, MAGEA11
+820 more
Copy number loss
See cases
GPathogenic
LOC130068630, LOC130068631
+16 more
Duplication
Xq25 microduplication syndrome
GPathogenic
MIR2114, MIR224
+718 more
Copy number gain
See cases
GPathogenic
EOLA2, EOLA2-DT
+720 more
Copy number loss
See cases
GPathogenic
DCAF12L1, DCAF12L2
+18 more
Copy number gain
See cases
GUncertain significance
ACTRT1, DCAF12L1
+19 more
Copy number gain
See cases
GPathogenic
SH2D1A
Single nucleotide variant
not provided
GBenign
SH2D1A
Single nucleotide variant
not provided
GBenign
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
Autoinflammatory syndrome
+2 more
GBenign
SH2D1A
Single nucleotide variant
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
X-linked lymphoproliferative disease due to SH2D1A deficiency
GBenign
SH2D1A
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
SH2D1A
Deletion
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
Single nucleotide variant
(5 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GBenign/Likely benign
SH2D1A
Single nucleotide variant
(5 prime UTR variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(M1V)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(M1T)
Single nucleotide variant
(missense variant +1 more)
Autoinflammatory syndrome
+1 more
GPathogenic/Likely pathogenic
SH2D1A
(M1I)
Single nucleotide variant
(missense variant +1 more)
X-linked lymphoproliferative disease due to SH2D1A deficiency
GPathogenic
SH2D1A
(D2G)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+1 more
GLikely pathogenic
SH2D1A
(A3S)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative disease due to SH2D1A deficiency
+2 more
GConflicting classifications of pathogenicity
SH2D1A
(Y7C)
Single nucleotide variant
(missense variant)
X-linked lymphoproliferative syndrome
GPathogenic
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