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Links from Gene

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC6
(K274N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(R197Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(L281F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(V239A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6, LOC124403959
(M175R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6, LOC130003859
(G48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(R415Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANK3, ARID5B
+15 more
Copy number loss
not specified
GUncertain significance
CCDC6
(P446L)
Single nucleotide variant
(missense variant)
not provided
GBenign
LOC124403968, LOC124403969
+220 more
Deletion
Intellectual developmental disorder, autosomal dominant 70
GLikely pathogenic
A1CF, ADO
+51 more
Copy number loss
not provided
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
CCDC6
(S419R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(G40S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6, LOC130003860
(G32S)
Single nucleotide variant
(missense variant)
not specified
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
CCDC6
(E299Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(P242L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(V239I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(I366L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6, LOC130003860
(G14W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6
(R298T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC6, LOC130003860
(A13T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANK3, ARID5B
+8 more
Copy number loss
not provided
GUncertain significance
ADO, ANK3
+18 more
Copy number loss
not provided
GUncertain significance
MTRNR2L5, TMEM26
+23 more
Copy number loss
not provided
GPathogenic
ANK3, PCDH15
+17 more
Copy number loss
not provided
GPathogenic
TIMM23, C10orf71
+50 more
Copy number loss
not provided
GPathogenic
CCDC6, LOC124403959
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANK3, BICC1
+10 more
Copy number gain
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CCDC6, ZNF32
+75 more
Inversion
Pediatric metastatic thyroid tumour
GLikely pathogenic
ANK3, ARID5B
+16 more
Copy number loss
See cases
GLikely pathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
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