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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
CKMT2, CKMT2-AS1
(R12C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R12H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(A14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(S24G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(L47P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R58C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R77C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(N97K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(V106A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(Y116C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CKMT2, CKMT2-AS1
(E157K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R169H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R172C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R182W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(V191M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(T214M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R220G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(D224G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R270S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R296W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(G328S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(V331I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R341C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R354C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(I376T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(R403T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(K408M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CKMT2, CKMT2-AS1
(P411L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RASGRF2, CKMT2
Copy number gain
not provided
GUncertain significance
SPZ1, MTRNR2L2
+8 more
Copy number gain
not provided
GUncertain significance
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
CKMT2, RASGRF2
+1 more
Copy number gain
not provided
GUncertain significance
RASGRF2, SSBP2
+9 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
FAM151B, MSH3
+9 more
Copy number gain
not provided
GUncertain significance
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
ACOT12, ANKRD34B
+9 more
Copy number gain
See cases
GUncertain significance
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