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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
ADAP1, C7orf50
+102 more
Copy number loss
See cases
GUncertain significance
ADAP1, AMZ1
+246 more
Copy number gain
See cases
GUncertain significance
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
LOC126859917, LOC126859918
+245 more
Copy number loss
See cases
GPathogenic
ADAP1, C7orf50
+140 more
Copy number loss
See cases
GPathogenic
LOC129997768, LOC132089513
+102 more
Copy number loss
See cases
GUncertain significance
ADAP1, AMZ1
+246 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
ADAP1, C7orf50
+97 more
Copy number gain
See cases
GUncertain significance
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ADAP1, C7orf50
+108 more
Copy number loss
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ADAP1, C7orf50
+140 more
Copy number loss
See cases
GPathogenic
ADAP1, C7orf50
+117 more
Copy number gain
See cases
GUncertain significance
ADAP1, C7orf50
+105 more
Copy number gain
See cases
GUncertain significance
C7orf50, CHST12
+116 more
Copy number gain
See cases
GUncertain significance
ZFAND2A
(G114R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(G114W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(A113G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(G106R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(G120S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZFAND2A
(R99H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZFAND2A
(G89A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(H79N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(G77A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(K68N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(K50R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(A47V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(P45L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(A40T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(H36R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(C33G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(K29E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZFAND2A
(A27V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAP1, C7orf50
+19 more
Copy number loss
not specified
GPathogenic
RNF216, SDK1
+48 more
Copy number gain
not provided
GPathogenic
PSMG3, RAC1
+73 more
Copy number gain
not provided
GPathogenic
FAM20C, GET4
+13 more
Deletion
not provided
GPathogenic
C7orf50, UNCX
+1 more
Copy number gain
not provided
GUncertain significance
MAD1L1, MAFK
+73 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ACTB, ADAP1
+98 more
Copy number gain
See cases
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ADAP1, C7orf50
+13 more
Copy number gain
not provided
GUncertain significance
ADAP1, C7orf50
+12 more
Copy number gain
not provided
GUncertain significance
C7orf50, GPER1
+8 more
Copy number gain
not provided
GUncertain significance
TMEM184A, GET4
+18 more
Copy number loss
See cases
GPathogenic
ZFAND2A, C7orf50
+8 more
Copy number gain
not provided
GUncertain significance
GPR146, PSMG3
+9 more
Copy number gain
not provided
GUncertain significance
INTS1, ZFAND2A
+17 more
Copy number loss
not provided
GPathogenic
ADAP1, AMZ1
+32 more
Copy number loss
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ACTB, ADAP1
+98 more
Copy number gain
not provided
GPathogenic
ADAP1, C7orf50
+8 more
Copy number loss
See cases
GUncertain significance
GPER1, ADAP1
+8 more
Copy number gain
not provided
GUncertain significance
COX19, ZFAND2A
+5 more
Copy number gain
not provided
GLikely benign
ADAP1, AMZ1
+32 more
Copy number loss
See cases
GPathogenic
ADAP1, C7orf50
+19 more
Copy number loss
See cases
GLikely pathogenic
ACTB, ADAP1
+76 more
Copy number gain
See cases
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
DAGLB, DNAAF5
+76 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+82 more
Copy number gain
See cases
GPathogenic
C7orf50, GPER1
+1 more
Copy number loss
See cases
GLikely benign
TNRC18, TTYH3
+80 more
Copy number gain
See cases
GPathogenic
CYP2W1, PSMG3
+25 more
Copy number gain
See cases
GUncertain significance
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