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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRB3, ADGRB3-DT
+310 more
Copy number loss
See cases
GPathogenic
DPPA5
(K101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPPA5
(K101Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPPA5
(L78V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPPA5
(G72S)
Single nucleotide variant
(missense variant)
Aganglionic megacolon
GUncertain significance
DPPA5
(P39L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD109, CGAS
+10 more
Copy number gain
not provided
GUncertain significance
B3GAT2, CD109
+17 more
Copy number loss
Autism
GPathogenic
ADGRB3, B3GAT2
+32 more
Copy number loss
Chromosome 6q11-q14 deletion syndrome
GPathogenic
BACH2, ADGRB3
+88 more
Copy number gain
not specified
GPathogenic
CGAS, DDX43
+7 more
Duplication
not provided
GUncertain significance
BCKDHB, CD109
+31 more
Copy number loss
not provided
GPathogenic
B3GAT2, CD109
+31 more
Copy number loss
not provided
GPathogenic
EEF1A1, KCNQ5
+10 more
Deletion
Salla disease
GPathogenic
KHDC3L, OOEP
+6 more
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
BCKDHB, CD109
+40 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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