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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ALG9, BCO2
+45 more
Copy number gain
See cases
GUncertain significance
PLET1
(E179K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLET1
(M170V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLET1
(L141P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLET1
(I140T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PLET1
(P120R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLET1
(G86D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLET1
(V70I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC100132686, PLET1
(Y60C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100132686, PLET1
(N57S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100132686, PLET1
(H52R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100132686, PLET1
(F37L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100132686, PLET1
(L16P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100132686, PLET1
(L9P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCO2, DIXDC1
+10 more
Copy number gain
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ALG9, ANKK1
+50 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
PLET1, PTS
+4 more
Copy number loss
not provided
GUncertain significance
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
AASDHPPT, ACAT1
+68 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ACAT1
+76 more
Copy number loss
not provided
GPathogenic
ALG9, ANKK1
+45 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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