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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LINC02479, LINC02485
+185 more
Copy number loss
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
ELF2, LINC00498
+48 more
Copy number loss
See cases
GUncertain significance
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
MGST2
(T36M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGST2
(A70T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGST2
(A70S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGST2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MGST2
(R22C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MGST2
(I69T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MGST2
(F26I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MGST2
(R109Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGST2
(L117F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MGST2
(I139V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MGST2
(R77W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAML3, MGST2
(S1078R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
SPOCK3, SPRY1
+153 more
Copy number gain
not provided
GPathogenic
CLGN, ELF2
+23 more
Copy number gain
not specified
GUncertain significance
ABHD18, ADAD1
+123 more
Copy number gain
not specified
GPathogenic
ANAPC10, CLGN
+28 more
Copy number loss
not provided
GPathogenic
CLGN, ELF2
+15 more
Copy number loss
not provided
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ETFDH, FAM218A
+108 more
Copy number gain
not provided
GPathogenic
FREM3, HHIP
+28 more
Copy number loss
not provided
GPathogenic
MGAT4D, SETD7
+14 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
ABCE1, ANAPC10
+21 more
Copy number loss
not provided
GUncertain significance
CLGN, ELF2
+20 more
Copy number loss
not provided
GUncertain significance
ABHD18, C4orf33
+24 more
Deletion
not provided
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
CFAP97, CFI
+255 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
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