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Items: 1 to 100 of 184

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
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, AMER1
+269 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
AMER1, AR
+120 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
EDA2R, HEPH
+17 more
Copy number gain
See cases
GUncertain significance
EDA2R, HEPH
+7 more
Copy number gain
See cases
GUncertain significance
EDA2R, HEPH
+7 more
Copy number gain
See cases
GUncertain significance
EDA2R, LOC126863269
+5 more
Copy number loss
See cases
GUncertain significance
EDA2R, LOC126863269
+6 more
Copy number gain
See cases
GLikely benign
ABCB7, AR
+206 more
Duplication
Xq13q21 duplication
GPathogenic
ABCB7, AR
+206 more
Copy number gain
See cases
GPathogenic
EDA2R, LOC126863269
+5 more
Copy number loss
See cases
GUncertain significance
EDA2R, LOC126863269
+4 more
Copy number gain
See cases
GLikely benign
EDA2R, LOC126863269
+4 more
Copy number gain
See cases
GUncertain significance
EDA2R, LOC126863269
+4 more
Copy number gain
See cases
GUncertain significance
EDA2R, LOC126863269
+5 more
Copy number gain
See cases
GUncertain significance
EDA2R, LOC126863269
+4 more
Copy number gain
See cases
GUncertain significance
EDA2R, LOC126863269
+4 more
Copy number gain
See cases
GBenign
EDA2R
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
EDA2R
(G296E +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
(G243R +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
EDA2R
(G243R +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
EDA2R
(G151W +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EDA2R
(S211N +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
EDA2R
(S238Y +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
(P229S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
EDA2R
(L90F +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
(N175fs +4 more)
Deletion
(frameshift variant +2 more)
Partial congenital absence of teeth
GLikely pathogenic
EDA2R
(S170F +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EDA2R
(E169G +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EDA2R
(V160M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
EDA2R
(L126F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EDA2R
(A129T)
Variation
(no sequence alteration +2 more)
not provided
GBenign
EDA2R
(G33S)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
EDA2R
(P112S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
EDA2R
(Q110P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
EDA2R
(R95C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
(R92Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
EDA2R
(D85fs +1 more)
Deletion
(frameshift variant +2 more)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA2R
(T78P)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
EDA2R
(L40H)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
EDA2R
(L40F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
EDA2R
(A16V)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
EDA2R
(G15S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
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