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Items: 1 to 100 of 161

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+540 more
Copy number loss
See cases
GPathogenic
LOC129999684, LOC129999685
+538 more
Copy number loss
See cases
GLikely pathogenic
LOC129999655, LOC129999656
+533 more
Copy number loss
See cases
GPathogenic
UBE3C, VIPR2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
ABCF2, ABCF2-H2BK1
+315 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+226 more
Copy number loss
See cases
GPathogenic
ACTR3B, BLACE
+225 more
Copy number gain
See cases
GPathogenic
EN2-DT, ESYT2
+207 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+204 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+195 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+193 more
Copy number loss
Holoprosencephaly 3
GPathogenic
BLACE, CNPY1
+186 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+173 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+161 more
Copy number loss
See cases
GPathogenic
CNPY1, DNAJB6
+156 more
Copy number gain
See cases
GLikely pathogenic
CNPY1, DNAJB6
+150 more
Copy number loss
See cases
GPathogenic
DNAJB6, DYNC2I1
+148 more
Copy number loss
See cases
GPathogenic
LINC01022, DNAJB6
+79 more
Copy number loss
See cases
GPathogenic
DNAJB6, DYNC2I1
+75 more
Copy number loss
See cases
GUncertain significance
DNAJB6, DYNC2I1
+73 more
Copy number gain
See cases
GUncertain significance
DYNC2I1, ESYT2
+46 more
Copy number gain
See cases
GPathogenic
LOC129999754, LOC129999755
+35 more
Copy number loss
See cases
GPathogenic
DYNC2I1, ESYT2
+32 more
Copy number gain
See cases
GUncertain significance
DYNC2I1, ESYT2
+32 more
Copy number loss
See cases
GPathogenic
DYNC2I1, ESYT2
+24 more
Duplication
Autism
GLikely pathogenic
DYNC2I1, ESYT2
+23 more
Copy number gain
See cases
GBenign
DYNC2I1, ESYT2
+23 more
Copy number gain
See cases
GUncertain significance
DYNC2I1, ESYT2
+21 more
Duplication
Schizophrenia
GLikely pathogenic
DYNC2I1, ESYT2
+23 more
Copy number gain
See cases
GLikely benign
DYNC2I1, ESYT2
+15 more
Duplication
not specified
GUncertain significance
DYNC2I1, LINC00689
+7 more
Copy number gain
See cases
GBenign
DYNC2I1, LINC00689
+12 more
Copy number loss
See cases
GLikely benign
DYNC2I1, LINC00689
+12 more
Copy number loss
See cases
GUncertain significance
LINC00689, LOC108254663
+10 more
Copy number gain
See cases
GUncertain significance
VIPR2
(L415R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(R346L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(R407H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(L419P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(G337R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(N397K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(F330S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
VIPR2
(S393F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(S408F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(P381Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VIPR2
(Q367K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(C362Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
VIPR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VIPR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
VIPR2
(K312R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(D234V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(W201S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(H197Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(G270S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(T189S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(L184F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(L264V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(L129P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(F128L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(P193S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VIPR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
LOC110121203, LOC126860263
+5 more
Copy number gain
See cases
GLikely benign
LOC110121203, LOC126860263
+1 more
Copy number gain
See cases
GLikely benign
LOC110121203, LOC113743971
+6 more
Copy number loss
See cases
GLikely benign
LOC126860263, VIPR2
(L134F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC126860263, VIPR2
(T127A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC110121203, LOC113743971
+5 more
Duplication
Schizophrenia
GLikely pathogenic
LOC110121203, VIPR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VIPR2
(G110D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(D107N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(V106I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VIPR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
VIPR2
(T94M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(T72M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
(G54S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126860264, LOC126860265
+3 more
Copy number gain
See cases
GLikely benign
VIPR2
(I21V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VIPR2
Single nucleotide variant
(intron variant)
Myoepithelial tumor
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
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