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Items: 1 to 100 of 279

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
HMGN5, HNRNPH2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068194, LOC130068195
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068432, LOC130068433
+2633 more
Copy number loss
See cases
GPathogenic
IL1RAPL1, IL2RG
+1398 more
Copy number gain
See cases
GPathogenic
LOC130068031, LOC130068032
+2633 more
Copy number gain
See cases
GPathogenic
LOC110120594, LOC110120595
+2633 more
Copy number loss
See cases
GPathogenic
LOC130067964, LOC130067965
+2633 more
Copy number gain
See cases
GPathogenic
CT45A7, CT45A8
+2632 more
Copy number gain
See cases
GPathogenic
ASMT, ASMTL
+1475 more
Copy number loss
See cases
GPathogenic
LOC129391293, LOC129391294
+1628 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
FANCB, FGD1
+1932 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
TIMM8A, TIMP1
+2631 more
Copy number loss
See cases
GPathogenic
LOC119407398, LOC119407399
+2632 more
Copy number loss
See cases
GPathogenic
FAM223B, FAM226A
+2628 more
Copy number loss
See cases
GPathogenic
LOC126863207, LOC126863208
+2628 more
Copy number gain
See cases
GPathogenic
LOC130068458, LOC130068459
+2633 more
Copy number gain
See cases
GPathogenic
LOC113875011, LOC113875012
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068362, LOC130068363
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068054, LOC130068055
+2631 more
Copy number loss
See cases
GPathogenic
LOC126863302, LOC126863303
+2631 more
Copy number gain
See cases
GPathogenic
LOC119407406, LOC119407407
+2632 more
Copy number loss
See cases
GPathogenic
ACOT9, ABCB7
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863301, LOC126863302
+2632 more
Copy number gain
See cases
GPathogenic
LOC130067921, LOC130067922
+1798 more
Copy number gain
See cases
GPathogenic
LOC126863205, LOC126863206
+2632 more
Copy number gain
See cases
GPathogenic
LOC107985687, LOC107988021
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130067947, LOC130067948
+2632 more
Copy number gain
See cases
GPathogenic
CT45A3, CT45A5
+2632 more
Copy number gain
See cases
GPathogenic
LOC129391306, LOC129391307
+1493 more
Copy number loss
See cases
GPathogenic
CDKL5, CDR1
+2611 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2603 more
Copy number gain
See cases
GPathogenic
LOC126863296, LOC126863297
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068368, LOC130068369
+2593 more
Copy number gain
See cases
GPathogenic
LOC130067891, LOC130067892
+2595 more
Copy number gain
See cases
GPathogenic
LOC130068100, LOC130068101
+2585 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+2046 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2102 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2098 more
Copy number loss
See cases
GPathogenic
ABCB7, AKAP4
+640 more
Copy number loss
See cases
GPathogenic
ABCB7, ACSL4
+824 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
EDA2R, EFNB1
+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
LOC113875008, LOC113875009
+1467 more
Copy number gain
See cases
GPathogenic
LOC130068588, LOC130068589
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863270, LOC126863271
+263 more
Copy number gain
See cases
GPathogenic
AMER1, AR
+120 more
Copy number gain
See cases
GPathogenic
LOC116309158, LOC116309159
+1466 more
Copy number gain
See cases
GPathogenic
GPRASP2, GPRASP3
+1464 more
Copy number loss
See cases
GPathogenic
KIF4A, LOC130068402
+206 more
Duplication
Xq13q21 duplication
GPathogenic
ABCB7, AR
+206 more
Copy number gain
See cases
GPathogenic
LINC00891, LOC100132741
+175 more
Copy number gain
See cases
GPathogenic
EFNB1, LOC121853059
+5 more
Copy number loss
See cases
GPathogenic
ABCB7, ARR3
+161 more
Copy number gain
See cases
GPathogenic
EFNB1, LINC00269
+7 more
Copy number gain
See cases
GUncertain significance
EFNB1
Single nucleotide variant
not provided
GBenign
EFNB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
EFNB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
EFNB1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
EFNB1
Single nucleotide variant
(5 prime UTR variant)
EFNB1-related condition
GLikely benign
EFNB1
(R3W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EFNB1
Single nucleotide variant
(synonymous variant)
EFNB1-related condition
GLikely benign
EFNB1
(W8*)
Single nucleotide variant
(nonsense)
Craniofrontonasal syndrome
GLikely pathogenic
EFNB1
(W12*)
Single nucleotide variant
(nonsense)
EFNB1-related condition
GLikely pathogenic
EFNB1
(R23fs)
Deletion
(frameshift variant)
Craniofrontonasal syndrome
GLikely pathogenic
EFNB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EFNB1
(A29fs)
Duplication
(frameshift variant)
not provided
GPathogenic
EFNB1
(S39fs)
Duplication
(frameshift variant)
not provided
GPathogenic
EFNB1
(P34fs)
Deletion
(frameshift variant)
Craniofrontonasal syndrome
GPathogenic
EFNB1
(P34A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EFNB1
(W37G)
Single nucleotide variant
(missense variant)
Craniofrontonasal syndrome
GPathogenic
EFNB1
(W37*)
Single nucleotide variant
(nonsense)
Craniofrontonasal syndrome
GPathogenic
EFNB1
(W37*)
Single nucleotide variant
(nonsense)
Craniofrontonasal syndrome
GPathogenic
EFNB1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
EFNB1
Single nucleotide variant
(splice donor variant)
Craniofrontonasal syndrome
GPathogenic
EFNB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EFNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EFNB1
Single nucleotide variant
(intron variant)
not provided
GBenign
EFNB1
Single nucleotide variant
(intron variant)
not provided
GBenign
EFNB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EFNB1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
EFNB1
(F44S)
Single nucleotide variant
(missense variant)
Craniofrontonasal syndrome
GLikely pathogenic
EFNB1
(K48*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
EFNB1
(G49R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EFNB1
(L50*)
Single nucleotide variant
(nonsense)
Craniofrontonasal syndrome
GPathogenic
EFNB1
(V51G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EFNB1
Indel
(missense variant)
not provided
GLikely pathogenic
EFNB1
(I52fs)
Indel
(frameshift variant)
not provided
GPathogenic
EFNB1
(Y53F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EFNB1
(P54R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EFNB1
(P54L)
Single nucleotide variant
(missense variant)
Craniofrontonasal syndrome
+1 more
GPathogenic/Likely pathogenic
EFNB1
(K59Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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