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Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MTNR1A, NAF1
+535 more
Copy number gain
See cases
GPathogenic
LOC129993482, LOC129993483
+509 more
Copy number loss
See cases
GPathogenic
LOC129993424, LOC129993425
+485 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+466 more
Copy number loss
See cases
GPathogenic
LOC129993469, LOC129993470
+455 more
Copy number loss
See cases
GPathogenic
LOC129993480, LOC129993481
+451 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+401 more
Copy number gain
See cases
GUncertain significance
LOC126807230, LOC126807231
+383 more
Copy number loss
See cases
GPathogenic
UFSP2, VEGFC
+375 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+372 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+322 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
FLJ38576, FRG1
+339 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+324 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+293 more
Copy number loss
See cases
GLikely pathogenic
LOC132089100, LOC132089101
+293 more
Copy number loss
See cases
GPathogenic
LOC126807226, LOC126807227
+285 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+287 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+286 more
Copy number loss
See cases
GPathogenic
LOC132089106, LOC132089107
+282 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+267 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+275 more
Copy number gain
See cases
GLikely pathogenic
ACSL1, ANKRD37
+275 more
Copy number loss
See cases
GPathogenic
WWC2, WWC2-AS1
+274 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+193 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+193 more
Copy number loss
See cases
GPathogenic
CFAP97, ACSL1
+148 more
Copy number loss
See cases
GUncertain significance
ACSL1, ANKRD37
+256 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+223 more
Copy number gain
See cases
GLikely pathogenic
ACSL1, ANKRD37
+165 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+241 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+228 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+197 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+206 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+185 more
Copy number loss
See cases
GLikely pathogenic
ACSL1, ANKRD37
+185 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+162 more
Copy number gain
See cases
GPathogenic
ACSL1, CASP3
+45 more
Copy number gain
See cases
GUncertain significance
CENPU, PRIMPOL
Deletion
(inframe_deletion +2 more)
PRIMPOL-related disorder
GBenign
CENPU, PRIMPOL
(T248R +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(A265G +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(Q261E +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(P366S +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(D381E +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(W280S +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(E407G +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU, PRIMPOL
(E333Q +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CENPU
(Q410L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(H409R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(I407T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(R405Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CENPU
(H403Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A400T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(D383G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(L364F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A355T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CENPU
(R347T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(P332A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(M320V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPU
(L293F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A277S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CENPU
(K210R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A201S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A169T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(I165V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CENPU
(R161H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(E119A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(E119K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A115V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(S88F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(I80M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(A79P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(E66K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(V52F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(D45V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(I41V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CENPU
(P40S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(R19C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(H12Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CENPU
(R4W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+85 more
Copy number loss
not specified
GPathogenic
ACSL1, CASP3
+4 more
Copy number loss
not specified
GUncertain significance
ACSL1, CASP3
+10 more
Copy number gain
not specified
GUncertain significance
ACSL1, ADAM29
+34 more
Copy number loss
not specified
GPathogenic
ACSL1, ANKRD37
+16 more
Copy number gain
not specified
GUncertain significance
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
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