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Items: 1 to 100 of 263

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
LOC126806887, LOC126806888
+160 more
Copy number loss
Esodeviation
+7 more
GPathogenic
ABCC5, ABCC5-AS1
+85 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+41 more
Copy number gain
See cases
GLikely benign
ABCC5, ABCC5-AS1
+63 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
AP2M1, LOC123453202
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
AP2M1, LOC123453202
(N9fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
AP2M1, LOC123453202
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1, LOC123453202
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1, LOC123453202
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
AP2M1, LOC123453202
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1, LOC123453202
(S17F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AP2M1, LOC123453202
(V19fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
AP2M1, LOC123453202
(V19I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1, LOC123453202
(D23A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1, LOC123453202
(G25R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder 60 with seizures
GUncertain significance
AP2M1, LOC123453202
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP2M1, LOC123453202
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1, LOC123453202
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1, LOC123453202
(Q28H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
AP2M1, LOC123453202
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AP2M1, LOC123453202
(S38P)
Single nucleotide variant
(missense variant +1 more)
AP2M1-related disorder
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(N35S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(R65W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(R44C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(V83I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(A67T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(A100S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
AP2M1
(E105K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(M85I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(M85I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(C111Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(M114R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(G119V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(I96V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(S122G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(S97N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
(I101V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
Intellectual developmental disorder 60 with seizures
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP2M1
(F143Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(P121R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(A128T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
(F157I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AP2M1
(T134M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
AP2M1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
AP2M1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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