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Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
CRAT, DOLK
+72 more
Copy number loss
See cases
GUncertain significance
DOLK, ENDOG
+16 more
Copy number gain
See cases
GUncertain significance
ABL1, ASB6
+179 more
Copy number gain
See cases
GUncertain significance
DOLK, NUP188
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
DOLK, NUP188
Single nucleotide variant
(5 prime UTR variant)
DK1-congenital disorder of glycosylation
GUncertain significance
DOLK, NUP188
(A3V)
Single nucleotide variant
(missense variant)
DK1-congenital disorder of glycosylation
+1 more
GUncertain significance
NUP188
(G6A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
DOLK, NUP188
(G7R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
NUP188
(C9G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(C9Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DOLK, NUP188
Single nucleotide variant
(intron variant)
not provided
GBenign
DOLK, NUP188
Single nucleotide variant
(intron variant)
not provided
GBenign
DOLK, NUP188
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DOLK, NUP188
Single nucleotide variant
(intron variant)
not provided
GBenign
NUP188
(L21P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NUP188
(R41W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(R42*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NUP188
(A58P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(N64D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NUP188
(Q91H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(Y96*)
Duplication
(nonsense)
not provided
GUncertain significance
NUP188
(Q113*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
(D149G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
NUP188-related disorder
GBenign
NUP188
(R155G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(E157D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(A185T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(H191R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NUP188
(R198S)
Single nucleotide variant
(missense variant)
NUP188-related disorder
+1 more
GLikely benign
NUP188
(R202H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(W203C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUP188
(V205A)
Single nucleotide variant
(missense variant)
NUP188-related disorder
GLikely benign
NUP188
(S230R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(V234L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(E241G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(Q242K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(V262I)
Single nucleotide variant
(missense variant)
NUP188-related disorder
GLikely benign
NUP188
(G266S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
Single nucleotide variant
(synonymous variant)
NUP188-related disorder
GBenign
NUP188
(H294Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUP188
(A297V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
(I302fs)
Deletion
(frameshift variant)
Sandestig-stefanova syndrome
GPathogenic
NUP188
(C303Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(R330H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(N334K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
(S340N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(V341M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(Q351H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(T359S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUP188
(M379T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
(T390S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NUP188
Single nucleotide variant
(intron variant)
Sandestig-stefanova syndrome
GBenign
NUP188
(D402G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NUP188
(D405G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(T406R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
NUP188-related disorder
GLikely benign
NUP188
(A412V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(H442R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(R452Q)
Single nucleotide variant
(missense variant)
Sandestig-stefanova syndrome
GUncertain significance
NUP188
(S466G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(K470E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(N475S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(Y478H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NUP188
(R495W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(L502F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
NUP188
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP188
Single nucleotide variant
(synonymous variant)
NUP188-related disorder
GLikely benign
NUP188
(R531C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(V553I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
(C562R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUP188
(S581P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NUP188
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NUP188
(C585F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUP188
Single nucleotide variant
(synonymous variant)
NUP188-related disorder
GLikely benign
NUP188
Single nucleotide variant
(intron variant)
Sandestig-stefanova syndrome
GBenign
NUP188
(I611M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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