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Items: 1 to 100 of 167

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
PRIMPOL
(N2D)
Single nucleotide variant
(missense variant +3 more)
PRIMPOL-related disorder
GUncertain significance
PRIMPOL
(Q11H)
Single nucleotide variant
(missense variant +3 more)
PRIMPOL-related disorder
GBenign
PRIMPOL
(E20D)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PRIMPOL
(P39L)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PRIMPOL
(Q50E)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PRIMPOL
(V64I)
Single nucleotide variant
(5 prime UTR variant +2 more)
PRIMPOL-related disorder
GUncertain significance
PRIMPOL
(K70E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PRIMPOL
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
PRIMPOL
(R76H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PRIMPOL
(T82A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
PRIMPOL
(Y89D +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PRIMPOL
(I8V +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PRIMPOL
Single nucleotide variant
(intron variant)
PRIMPOL-related disorder
GLikely benign
PRIMPOL
(H98Y)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
PRIMPOL
(V102A)
Single nucleotide variant
(5 prime UTR variant +3 more)
PRIMPOL-related disorder
GBenign
PRIMPOL
(N118S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
PRIMPOL
(D126E)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
PRIMPOL
(R168W +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
PRIMPOL
(H175R +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
PRIMPOL
(Q194H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
Single nucleotide variant
(synonymous variant +2 more)
PRIMPOL-related disorder
GLikely benign
PRIMPOL
(D77G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(T83I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(M233V +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(E107G +3 more)
Single nucleotide variant
(missense variant +1 more)
PRIMPOL-related disorder
GUncertain significance
PRIMPOL
(T7I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(T285A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(R116Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(K136R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
PRIMPOL
(I83L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
Single nucleotide variant
(synonymous variant +2 more)
PRIMPOL-related disorder
GBenign
PRIMPOL
(S155A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(S349P +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(Q175R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(H149R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(V255I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(R166W +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(R165Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(R167H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
Single nucleotide variant
(synonymous variant +1 more)
PRIMPOL-related disorder
GLikely benign
PRIMPOL
(A341T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(K252R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
(M348I +9 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PRIMPOL
(Y210C +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRIMPOL
(C227R +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRIMPOL
Deletion
(intron variant)
PRIMPOL-related disorder
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
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