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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
CFAP61, CFAP61-AS1
+117 more
Copy number loss
See cases
GPathogenic
CRNKL1
(D832A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(D683N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(H554R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(S633T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R598Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(E725G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(W428C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R544Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R412Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(Y379N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(I656T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(N355Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R614G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(I316V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(M291T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(F288C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(D266Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(Y256F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(V509L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(A505T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R215H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(W210R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(I456M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(L428V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(R223H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(A201S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(E342G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(N310S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRNKL1
(M273R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRNKL1
(Y253H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRNKL1
(Q89R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRNKL1
(N73D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CRNKL1, LOC130065490
(S122R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CRNKL1, LOC130065490
(C117Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CRNKL1, LOC130065490
(S116F +1 more)
Single nucleotide variant
(missense variant +2 more)
Malignant melanoma of skin
+1 more
GLikely pathogenic
CFAP61, CRNKL1
+1 more
(Q38* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely benign
CFAP61, CRNKL1
(L8P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CFAP61, CRNKL1
+5 more
Copy number gain
See cases
GUncertain significance
CFAP61, CRNKL1
+10 more
Complex
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
BANF2, BFSP1
+49 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CFAP61, CRNKL1
+19 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CFAP61, CRNKL1
+10 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
CFAP61, CRNKL1
+10 more
Copy number loss
not specified
GPathogenic
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
CST9, ACSS1
+57 more
Copy number gain
not provided
GLikely pathogenic
ANKEF1, BANF2
+49 more
Copy number loss
not provided
GPathogenic
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
RIN2, CFAP61
+2 more
Copy number gain
not provided
GUncertain significance
HCK, HM13
+89 more
Duplication
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+44 more
Copy number loss
See cases
GPathogenic
ESF1, FAM110A
+178 more
Copy number gain
not provided
GPathogenic
ABHD12, ACSS1
+176 more
Copy number gain
See cases
GPathogenic
CCM2L, CD93
+89 more
Copy number gain
See cases
GPathogenic
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