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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+203 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+211 more
Copy number gain
See cases
GPathogenic
ALG5, ALOX5AP
+214 more
Copy number loss
See cases
GPathogenic
LOC130009567, LOC130009568
+1005 more
Copy number gain
See cases
GPathogenic
LOC130009620, LOC130009621
+781 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG5
+485 more
Copy number loss
See cases
GPathogenic
B3GLCT, BRCA2
+79 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LOC130009600, LOC130009601
+735 more
Copy number gain
See cases
GPathogenic
LOC130009611, LOC130009612
+938 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
CCDC169, CCDC169-SOHLH2
+53 more
Copy number gain
See cases
GUncertain significance
RFC3
(S2I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(S2R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(L16V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(Y18C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(Q31R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(T86I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(T135I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(S169F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(A181V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(L211V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3, FOXP2
Translocation
Childhood apraxia of speech
GPathogenic
RFC3
(E273K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(L278Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(C285F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RFC3
(L296F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RFC3
(R321C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RFC3
(Y343C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDX2, AMER2
+82 more
Copy number gain
not provided
GUncertain significance
RFC3
Copy number loss
not provided
GUncertain significance
B3GLCT, BRCA2
+12 more
Copy number gain
not provided
Gnot provided
KL, RFC3
+1 more
Copy number gain
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
AKAP11, ALG11
+127 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
RFC3, STARD13
Copy number gain
not provided
GUncertain significance
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
RFC3
Copy number gain
not provided
GUncertain significance
RFC3
Copy number loss
not provided
GLikely benign
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
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