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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC13
(Q698R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R690W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(G637V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(G637R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(Q616E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(H601N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(E576K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R573W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(E565K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC13
(R562Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R562W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(S534L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC13, CCDC13-AS1
(P521S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(T519M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(H511Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(T478I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(R471L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(R471H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(G470V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(S469G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(R460W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(M436V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(R425W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(L387V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(K357Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(R353K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC13, CCDC13-AS1
(R335W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13, CCDC13-AS1
(E323G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(Q233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(A187T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R164H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R164C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(G153D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R145Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R145W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(V132L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(A129T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(V128I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(G127S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(R104T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(D78N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(A62S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(D55G)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC13
(D45V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(L40F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(K28T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(E20K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(D4N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC13
(A3V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD5, ACKR2
+22 more
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
HHATL, ZKSCAN7
+29 more
Copy number loss
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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