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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 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
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
C1GALT1, CCZ1B
+131 more
Copy number loss
See cases
GPathogenic
C1GALT1, COL28A1
+42 more
Copy number gain
See cases
GLikely benign
C1GALT1, COL28A1
+43 more
Copy number gain
See cases
GUncertain significance
COL28A1, GLCCI1
+62 more
Copy number gain
See cases
GLikely benign
GLCCI1, GLCCI1-DT
+26 more
Copy number gain
See cases
GLikely benign
GLCCI1, GLCCI1-DT
Single nucleotide variant
Glucocorticoid therapy, response to
Gdrug response
GLCCI1, LOC129997981
(S5A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(V34G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(G38R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(S39T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(G42S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(G42A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(A43P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(G44S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(C51G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(C51W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(A52S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997982
(G56A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(A100V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GLCCI1, LOC129997983
(R102L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(S105R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(S105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(S107A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(S108R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(S108N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1, LOC129997983
(P111A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(P117L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(E119K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(A124V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(S148L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(A153V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GLCCI1
(K157I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(I167V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(R187W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(M197V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(M197L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLCCI1
(C207S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(I265V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(I265M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(H269L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(R294C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(P296T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(R356H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(H363L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(V367L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(P373L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(S382L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(P409R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(I438V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(I438T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(A440T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(C461S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLCCI1
(R500Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(L506P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(G514D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLCCI1
(M516L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSMG3, RAC1
+73 more
Copy number gain
not provided
GPathogenic
COL28A1, GLCCI1
+2 more
Copy number loss
not provided
Gnot provided
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
AGMO, AGR2
+20 more
Copy number loss
not provided
GUncertain significance
ICA1, GLCCI1
Copy number gain
not provided
GUncertain significance
GLCCI1
Copy number loss
not provided
GUncertain significance
C1GALT1, GLCCI1
+4 more
Copy number gain
not provided
GLikely benign
ACTB, AIMP2
+54 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ACTB, ADAP1
+98 more
Copy number gain
not provided
GPathogenic
AP5Z1, C1GALT1
+42 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+76 more
Copy number gain
See cases
GPathogenic
AGMO, AGR2
+25 more
Copy number gain
See cases
GUncertain significance
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
COL28A1, GLCCI1
+4 more
Copy number gain
See cases
GLikely benign
ACTB, ADAP1
+82 more
Copy number gain
See cases
GPathogenic
C1GALT1, COL28A1
+4 more
Copy number gain
See cases
GUncertain significance
TNRC18, TTYH3
+80 more
Copy number gain
See cases
GPathogenic
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