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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
BEND7, BEND7-DT
+69 more
Copy number loss
See cases
GLikely pathogenic
CCDC3
(Y142S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(Y142fs +1 more)
Deletion
(frameshift variant)
not provided
GBenign
CCDC3
(P141R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(N133H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(I257M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(A125V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(R111L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(R104W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(R226S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(K223M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(K223E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(R213C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
Single nucleotide variant
(intron variant)
Lip and oral cavity carcinoma
Gassociation not found
CCDC3
(F47L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC3
(A170V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC3
(D117N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(V114G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(G103C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(P56S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(P53L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(E33A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(R29K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(A19V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(P15A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(P15T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3
(G14D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC3, LOC107275223
Deletion
(intron variant)
Normal pregnancy
Gnot provided
LOC107275223, CCDC3
Deletion
(intron variant)
Small for gestational age
Gnot provided
BEND7, CAMK1D
+15 more
Copy number gain
not provided
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
CAMK1D, CCDC3
+1 more
Copy number gain
not provided
GUncertain significance
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
CAMK1D, CCDC3
+8 more
Duplication
not provided
GUncertain significance
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ACBD7, BEND7
+36 more
Copy number loss
Neurodevelopmental delay
GPathogenic
CAMK1D, CCDC3
+3 more
Copy number gain
See cases
GUncertain significance
CCDC3, CAMK1D
+3 more
Copy number gain
not provided
GUncertain significance
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
CCDC3, MCM10
+1 more
Copy number loss
not provided
GUncertain significance
ITIH2, ITIH5
+72 more
Deletion
Hypoparathyroidism, deafness, renal disease syndrome
GPathogenic
CAMK1D, CCDC3
+1 more
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
OPTN, BEND7
+9 more
Copy number loss
not provided
GUncertain significance
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
CAMK1D, CCDC3
+3 more
Copy number gain
See cases
GLikely benign
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
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