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Items: 1 to 100 of 197

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
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
ARMCX1, ARMCX2
+90 more
Copy number loss
See cases
GPathogenic
ARMCX2, ARMCX3
+108 more
Copy number gain
See cases
GPathogenic
MAGEA8-AS1, MAGEA9
+1075 more
Copy number loss
See cases
GPathogenic
BEX3, H2BW1
+28 more
Copy number gain
See cases
GPathogenic
LINC02589, LL0XNC01-250H12.3
+22 more
Copy number gain
See cases
GPathogenic
H2BW2, IL1RAPL2
+32 more
Duplication
Pelizaeus-Merzbacher disease
GPathogenic
LL0XNC01-250H12.3, RAB40A
(R271S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(T245S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(T217A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LL0XNC01-250H12.3, RAB40A
(S216I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LL0XNC01-250H12.3, RAB40A
(T168M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(F167S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(A145P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(H129L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(L123R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(E114G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(G104S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(G86V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(G86S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(S71L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(T70M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(L67I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(K64N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(T55A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LL0XNC01-250H12.3, RAB40A
(P42L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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