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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
LOC130007012, LOC130007013
+769 more
Copy number gain
See cases
GPathogenic
LOC126861364, LOC126861365
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
FRA11B, FXYD2
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130006995, LOC130006996
+551 more
Copy number loss
See cases
GPathogenic
LOC121832824, LOC124625855
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
LOC126861375, LOC126861376
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+368 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+352 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+343 more
Copy number loss
See cases
GPathogenic
LOC121392954, LOC121832822
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC130007027, LOC130007028
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
LOC130007109, LOC130007110
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
LOC130007100, LOC130007101
+145 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+123 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+99 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+88 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+75 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+65 more
Copy number loss
See cases
GUncertain significance
LOC130007119, LOC130007120
+62 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+60 more
Copy number loss
See cases
GLikely pathogenic
ACAD8, B3GAT1
+25 more
Copy number loss
See cases
GPathogenic
B3GAT1
(D329N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(D296E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(R276G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
B3GAT1
(V229M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(E203A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(M168I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(R132G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(T116M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(P109L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(V85M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(Y71H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(V64L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
B3GAT1
(L33F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+92 more
Copy number loss
not specified
GPathogenic
ACAD8, ACRV1
+104 more
Copy number loss
not specified
GPathogenic
ACAD8, ACRV1
+49 more
Copy number loss
not specified
GPathogenic
ACAD8, B3GAT1
+11 more
Copy number loss
not specified
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
JHY, RPUSD4
+107 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
NTM, SPATA19
+12 more
Copy number loss
Feeding difficulties
+3 more
GPathogenic
ACAD8, B3GAT1
+8 more
Copy number loss
not provided
GUncertain significance
ACAD8, B3GAT1
+10 more
Copy number gain
not provided
GUncertain significance
ACAD8, ACRV1
+94 more
Copy number loss
not provided
GPathogenic
ACAD8, B3GAT1
+12 more
Copy number loss
not provided
GLikely pathogenic
ACAD8, B3GAT1
+12 more
Copy number gain
See cases
GPathogenic
TP53AIP1, VPS26B
+30 more
Copy number loss
Syndromic anorectal malformation
GLikely pathogenic
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ACAD8, ADAMTS15
+17 more
Copy number gain
Seizure
GLikely pathogenic
ACAD8, ADAMTS15
+28 more
Copy number loss
not provided
GPathogenic
NTM, IGSF9B
+17 more
Copy number loss
not provided
GLikely pathogenic
ETS1, GLB1L3
+30 more
Copy number loss
not provided
GPathogenic
TP53AIP1, FLI1
+41 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ABCG4
+259 more
Duplication
Distal trisomy 11q
GPathogenic
B3GAT1, GLB1L3
+1 more
Copy number gain
not provided
GLikely benign
JAM3, GLB1L3
+6 more
Copy number gain
not provided
GUncertain significance
NTM, VPS26B
+12 more
Copy number gain
not provided
GUncertain significance
LINC02743, VSIG2
+74 more
Copy number loss
not provided
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
not provided
GPathogenic
ACAD8, ACRV1
+74 more
Deletion
Paris-Trousseau thrombocytopenia
GPathogenic
B3GAT1, GLB1L2
+1 more
Copy number loss
not provided
GUncertain significance
ACAD8, B3GAT1
+12 more
Copy number loss
not provided
GPathogenic
ABCG4, ACAD8
+160 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
See cases
GPathogenic
ABCG4, ACAD8
+176 more
Copy number gain
not provided
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+51 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+114 more
Copy number loss
not provided
GPathogenic
VPS26B, ACAD8
+23 more
Copy number loss
not provided
GPathogenic
B3GAT1, LINC02743
+12 more
Copy number loss
not provided
GPathogenic
FOXRED1, ST3GAL4
+39 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+7 more
Copy number gain
See cases
GUncertain significance
CHEK1, CLMP
+95 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+108 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+104 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+10 more
Copy number loss
See cases
GUncertain significance
ACAD8, ADAMTS15
+32 more
Copy number loss
See cases
GPathogenic
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