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Items: 83

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
MIOS
(G3S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(D48N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(P61T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(W145S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(T152N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(M158L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(G166S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(R206C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(I210M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(V222I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(Q247H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MIOS
(G281S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MIOS
(M338V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(N344S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(I363T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(R372H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(C377Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(I390T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(R401G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(D405H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(W410C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(G417R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(T429I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(D441N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(I456V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(T504A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(T504M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(L515I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(F530L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(R535H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(Q539R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(S577G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MIOS
(D615N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(K656E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MIOS
(L703V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MIOS
(S726I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MIOS
(A731P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MIOS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MIOS
(K804Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(N718S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
(H734D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MIOS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PSMG3, RAC1
+73 more
Copy number gain
not provided
GPathogenic
COL28A1, GLCCI1
+2 more
Copy number loss
not provided
Gnot provided
MIOS, RPA3
Copy number loss
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
C1GALT1, GLCCI1
+4 more
Copy number gain
not provided
GLikely benign
COL28A1, GRID2IP
+9 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
C1GALT1, COL28A1
+2 more
Copy number gain
not provided
GUncertain significance
ZNF12, INTS15
+9 more
Copy number gain
not provided
GLikely benign
AP5Z1, C1GALT1
+42 more
Copy number gain
See cases
GPathogenic
C1GALT1, COL28A1
+2 more
Copy number gain
See cases
GUncertain significance
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
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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