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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
LOC126861015, LOC129390222
+63 more
Copy number gain
See cases
GUncertain significance
ABCC2, BLOC1S2
+72 more
Copy number gain
See cases
GUncertain significance
CPN1
(T409M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(E407K)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
CPN1
(I384V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(R378Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(R328W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CPN1
(R233P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(N223S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(N214S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(I201L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(P195S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(D187G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(G178D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CPN1
(I123V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(V115I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(R108W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(S100L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(A90V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CPN1
(K80E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(P74L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CPN1
(H59fs)
Duplication
(frameshift variant)
Anaphylotoxin inactivator deficiency
GPathogenic
CPN1
(G57A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CPN1
(R24P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABCC2, ACTR1A
+95 more
Duplication
not provided
GUncertain significance
A1CF, ABCC2
+723 more
Copy number gain
not provided
GPathogenic
PNLIPRP3, POLL
+724 more
Copy number gain
not provided
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
ABCC2, ACSM6
+76 more
Copy number loss
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
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