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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992665, LOC129992666
+103 more
Copy number loss
See cases
GPathogenic
CENPC, GNRHR
+32 more
Copy number gain
See cases
GUncertain significance
AMBN, AMTN
+76 more
Copy number loss
See cases
GPathogenic
CSN1S1, CSN2
+43 more
Copy number loss
See cases
GUncertain significance
ADAMTS3, AFM
+121 more
Copy number loss
See cases
GLikely pathogenic
BTC, CABS1
+330 more
Deletion
See cases
GPathogenic
TMPRSS11E, UGT2B15
+1 more
Copy number gain
See cases
GBenign
TMPRSS11E, UGT2B17
Copy number gain
See cases
GLikely benign
LOC105377267, LOC111589210
+11 more
Copy number gain
See cases
GUncertain significance
UGT2B17
Copy number gain
See cases
GLikely benign
UGT2B17
Copy number gain
See cases
GLikely benign
UGT2B15, UGT2B17
Copy number gain
See cases
GLikely benign
UGT2B17
Copy number loss
See cases
GBenign
UGT2B17
Copy number gain
See cases
GBenign
UGT2B17
Copy number loss
See cases
GBenign
UGT2B17
Copy number gain
See cases
GBenign
UGT2B17
Copy number loss
See cases
GBenign
UGT2B17
Copy number gain
See cases
GBenign
UGT2B17
Copy number loss
See cases
GBenign
UGT2B17
Copy number gain
See cases
GBenign
UGT2B17
Copy number gain
See cases
GBenign
UGT2B17
Copy number loss
See cases
GLikely benign
UGT2B17
Copy number gain
See cases
GLikely benign
LOC105377267, LOC111589210
+18 more
Copy number gain
See cases
GBenign
UGT2B17
(D493E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(R470H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(V455L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UGT2B17
Single nucleotide variant
(synonymous variant)
UGT2B17-related disorder
GLikely benign
UGT2B17
(H450Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
UGT2B17
(L426F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(S423R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(A413D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(A398E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
Single nucleotide variant
(synonymous variant)
UGT2B17-related disorder
GBenign
UGT2B17
(A384T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(G380D)
Single nucleotide variant
(missense variant)
not provided
GBenign
UGT2B17
(T378A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
Single nucleotide variant
(synonymous variant)
UGT2B17-related disorder
GBenign
UGT2B17
(Y355H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(M317K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UGT2B17
(D276Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(R269H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(L258P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(L219F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UGT2B17
(V181I)
Single nucleotide variant
(missense variant)
not provided
GBenign
UGT2B17
(T180A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(R174H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(I167T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
Single nucleotide variant
(synonymous variant)
UGT2B17-related disorder
GBenign
UGT2B17
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UGT2B17
(D147V)
Single nucleotide variant
(missense variant)
UGT2B17-related disorder
GBenign
UGT2B17
(Y109S)
Single nucleotide variant
(missense variant)
UGT2B17-related disorder
GBenign
UGT2B17
(F106C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(N104fs)
Duplication
(frameshift variant)
not provided
GLikely benign
UGT2B17
Single nucleotide variant
(synonymous variant)
UGT2B17-related disorder
GLikely benign
UGT2B17
(F90L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UGT2B17
(F89V)
Single nucleotide variant
(missense variant)
UGT2B17-related disorder
GBenign
UGT2B17
(D85Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
UGT2B17
(K68Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(A60V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(E45Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(T41I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(K25N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(M6K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UGT2B17
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT2B17
Single nucleotide variant
(intron variant)
not provided
GBenign
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
AMBN, AMTN
+38 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AFM
+58 more
Copy number loss
not provided
GPathogenic
ADGRL3, AMBN
+52 more
Copy number loss
not provided
GPathogenic
ADAMTS3, ADGRL3
+58 more
Copy number loss
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AFM
+92 more
Copy number loss
not provided
GPathogenic
CENPC, GNRHR
+12 more
Copy number gain
not provided
GUncertain significance
CENPC, GNRHR
+10 more
Copy number gain
Delayed speech and language development
+1 more
GUncertain significance
CCNG2, CCNI
+109 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AMBN
+49 more
Copy number gain
not provided
GPathogenic
ADAMTS3, AFM
+75 more
Copy number loss
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
TMPRSS11E, UGT2A3
+3 more
Copy number gain
See cases
GUncertain significance
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
UGT2B17
Deletion
Bone mineral density quantitative trait locus 12
Gassociation
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