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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ARPP21, ARPP21-AS1
+87 more
Copy number loss
See cases
GPathogenic
ARPP21, ARPP21-AS1
+54 more
Copy number loss
See cases
GPathogenic
ACAA1, ACVR2B
+176 more
Copy number gain
See cases
GPathogenic
STAC
(D13A)
Single nucleotide variant
(missense variant)
not provided
GBenign
STAC
(E23Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(R53Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(Q62K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(R63Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(M69R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(A77T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(P103L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
STAC
(D122N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(R138C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STAC
(H148Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STAC
(R168Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STAC
(E140Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(A149V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(G158S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(G246R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(N201S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
STAC
(A210V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(M226T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(Y294H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(P237S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(F333S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STAC
(I341L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APRG1, DCLK3
+6 more
Copy number gain
not specified
GUncertain significance
APRG1, DCLK3
+6 more
Copy number gain
not specified
GUncertain significance
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ACAA1, ACVR2B
+93 more
Deletion
not provided
GPathogenic
STAC
Copy number gain
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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