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Items: 1 to 100 of 186

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
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
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
AKAP14, ATP1B4
+108 more
Copy number gain
Intellectual disability
GPathogenic
KIAA1210, LINC03098
+38 more
Copy number gain
Autism spectrum disorder
GUncertain significance
PGRMC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PGRMC1
(P64S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(R70W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(R71C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(P75R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(A76S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(M91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
(M91T)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
PGRMC1
(D131H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PGRMC1
(D131V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PGRMC1
(D140H)
Single nucleotide variant
(missense variant +1 more)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
PGRMC1
(H113R +1 more)
Single nucleotide variant
(missense variant)
PGRMC1-related disorder
GLikely benign
PGRMC1
(T126I +1 more)
Single nucleotide variant
(missense variant)
PGRMC1-related disorder
+1 more
GConflicting classifications of pathogenicity
PGRMC1
(V179A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PGRMC1
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
PGRMC1
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
ABCB7, ABCD1
+526 more
Duplication
Hereditary factor VIII deficiency disease
GUncertain significance
ABCD1, ACSL4
+321 more
Copy number loss
not specified
GPathogenic
CT47A5, NXF3
+488 more
Copy number gain
not provided
GPathogenic
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