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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
C5orf58, DOCK2
+84 more
Copy number loss
See cases
GUncertain significance
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
C5orf58, GABRP
+22 more
Copy number gain
See cases
GLikely benign
GABRP
(C20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(Q22R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(G31S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GABRP
(P39T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(N43D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(T66S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(K103N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(F129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(G136E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(R141C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(F143L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(T147M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(L149M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(N161S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(M162V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(R200H)
Single nucleotide variant
(missense variant)
not provided
GBenign
GABRP
(E203fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
GABRP
(R206W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(R206Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(E225D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(R239Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(V251I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(L259S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRP
(T343I)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GABRP
(E347G)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
GABRP
(V349A)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GABRP
(S350N)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
GABRP
(D376N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
GABRP
(K398E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
GABRP
(D404V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
GABRP
(I425L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
C5orf58, DOCK2
+7 more
Duplication
DOCK2 deficiency
GUncertain significance
C5orf58, DOCK2
+18 more
Copy number loss
not specified
GPathogenic
GABRP, KCNIP1
+3 more
Copy number gain
not provided
GUncertain significance
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ATP6V0E1, BNIP1
+35 more
Copy number loss
not specified
GPathogenic
SPDL1, TENM2
+37 more
Copy number loss
Atrial septal defect 7
GPathogenic
GABRP, KCNIP1
+1 more
Copy number gain
not provided
GUncertain significance
C5orf52, ADAM19
+51 more
Copy number gain
not provided
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
C5orf58, DOCK2
+9 more
Copy number loss
See cases
GUncertain significance
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
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