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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
APOLD1, ARHGDIB
+238 more
Copy number loss
See cases
GLikely pathogenic
APOLD1, BCL2L14
+121 more
Copy number loss
See cases
GPathogenic
DUSP16, LOC124625907
+54 more
Copy number gain
not provided
GUncertain significance
BCL2L14
(D15G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(A28T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(H34Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(L42I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(R56K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BCL2L14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCL2L14
(W72R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(K90N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(K111R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(Q168P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(Q171H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14, LOC124625906
(V194A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(E205K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(V213A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCL2L14
(A280T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(A284S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(I285T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(N291K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(L319P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(V326I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BCL2L14
(V326A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
APOLD1, BCL2L14
+19 more
Copy number loss
Intellectual disability
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
C12orf60, YBX3
+85 more
Copy number loss
not provided
GPathogenic
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
A2ML1, ABCC9
+235 more
Copy number gain
not specified
GPathogenic
APOLD1, ARHGDIB
+32 more
Duplication
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
APOLD1, ARHGDIB
+37 more
Copy number loss
not provided
GPathogenic
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+193 more
Copy number gain
not provided
GPathogenic
APOLD1, BCL2L14
+47 more
Copy number loss
Multiple endocrine neoplasia type 4
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
APOLD1, BCL2L14
+40 more
Copy number loss
not provided
GPathogenic
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
APOLD1, ARHGDIB
+79 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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