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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
CHORDC1, DISC1FP1
+17 more
Copy number loss
See cases
GUncertain significance
FOLH1B, LOC124544575
+3 more
Copy number loss
See cases
GUncertain significance
FOLH1B, TRIM49
+6 more
Copy number loss
See cases
GLikely benign
TRIM49, TRIM49D1
+3 more
Copy number gain
See cases
GLikely benign
TRIM64B
(F419L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(Y412F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(V408A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(T390I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(E373G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(S360F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(R358Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(N351K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(T347N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(S337P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(G331E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(S316N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(A289S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(G276V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(V241M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(E203V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(R195L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM64B
(R195W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(I180T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(I180V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(T163P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(D144Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(H120P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(E116Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(H95R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(C92F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(C92Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(N86D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(S74F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(K72E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(L41P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(C30R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(C16G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(D5E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM64B
(D5N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHORDC1, NAALAD2
+6 more
Copy number gain
not provided
GUncertain significance
AMOTL1, ANGPTL5
+93 more
Copy number loss
not provided
GPathogenic
NAALAD2, TRIM49
+6 more
Copy number loss
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
CHORDC1, FAT3
+9 more
Copy number loss
not specified
GUncertain significance
C11orf54, CCDC81
+39 more
Copy number loss
not specified
GLikely pathogenic
AMOTL1, ANKRD42
+66 more
Copy number loss
not specified
GPathogenic
AMOTL1, ANKRD42
+72 more
Copy number loss
not specified
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
FOLH1B, NOX4
+6 more
Copy number gain
not provided
GLikely benign
CCDC81, CCDC83
+29 more
Copy number gain
not provided
GPathogenic
CHORDC1, NAALAD2
+7 more
Deletion
Neurodevelopmental disorder
GUncertain significance
GRM5, HIKESHI
+36 more
Copy number loss
Intellectual disability
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
AASDHPPT, ACAT1
+95 more
Copy number loss
See cases
GPathogenic
CHORDC1, NAALAD2
+7 more
Copy number gain
See cases
GBenign
CTSC, FOLH1B
+14 more
Copy number loss
Abnormal esophagus morphology
GLikely benign
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