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Items: 1 to 100 of 541

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
FAM117B, FAM237A
+509 more
Copy number loss
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
AOX1, BOLL
+145 more
Copy number loss
See cases
GLikely pathogenic
ALS2, AOX1
+117 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
CASP10
Single nucleotide variant
Autoimmune lymphoproliferative syndrome type 2A
GBenign
CASP10
Single nucleotide variant
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GBenign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GConflicting classifications of pathogenicity
CASP10
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP10
(Q4R)
Single nucleotide variant
(missense variant)
Diffuse midline glioma, H3 K27-altered
GUncertain significance
CASP10
(G5S)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(H7R)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GConflicting classifications of pathogenicity
CASP10
(S10C)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(C16Y)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(K17E)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GConflicting classifications of pathogenicity
CASP10
(S19R)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R21C)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R21H)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GUncertain significance
CASP10
(I26V)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GConflicting classifications of pathogenicity
CASP10
(D28H)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(S29*)
Single nucleotide variant
(nonsense)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(N30I)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(G32R)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(D35N)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(I44L)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(I44T)
Single nucleotide variant
(missense variant)
CASP10-related condition
GUncertain significance
CASP10
(G45E)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L46V)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(P48S)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(N49S)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(S55P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(synonymous variant)
CASP10-related condition
+2 more
GBenign/Likely benign
CASP10
(S59W)
Indel
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CASP10
(A67S)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L70V)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(S72T)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(P76T)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(L83del)
Microsatellite
(inframe_deletion)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L83F)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L83V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CASP10
(L83P)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(Y84H)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(Y84C)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(I86M)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R87G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CASP10
(R87W)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
+2 more
GUncertain significance
CASP10
(R87Q)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(Q93P)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L95P)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(K99E)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(E101D)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(synonymous variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
(R104*)
Single nucleotide variant
(nonsense)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R104Q)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L105Q)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(L105P)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R109*)
Single nucleotide variant
(nonsense)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GUncertain significance
CASP10
(R109P)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(R111T)
Single nucleotide variant
(missense variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
(V112A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CASP10
(L114P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP10
Single nucleotide variant
(splice donor variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GUncertain significance
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GUncertain significance
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GBenign/Likely benign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
+1 more
GBenign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP10
Duplication
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GBenign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
CASP10
Single nucleotide variant
(intron variant)
Autoimmune lymphoproliferative syndrome type 2A
GLikely benign
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Sort by
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