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Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
ULK4
(V971I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(A959T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(D1259G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(S1254R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(A1251V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(R1249W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(R943W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806660, ULK4
Copy number loss
See cases
GLikely benign
LOC126806660, ULK4
Copy number loss
See cases
GUncertain significance
LOC126806660, ULK4
Copy number loss
See cases
GLikely benign
LOC126806660, ULK4
Deletion
Obesity
GUncertain significance
ULK4
(L905P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(E1201G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(P1192S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(N1191D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(Y1187C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(I1172T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806660, ULK4
Copy number loss
See cases
GUncertain significance
ULK4
(L855P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(R1152G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(L1148V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ULK4
(S833C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806660, ULK4
Copy number loss
See cases
GLikely benign
ULK4
(I1125T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(P804A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ULK4
Single nucleotide variant
(synonymous variant +1 more)
ULK4-related disorder
GLikely benign
ULK4
(Y1073F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(M1069V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
ULK4
(V760D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(S1053R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(E739V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Deletion
Schizophrenia
GLikely pathogenic
ULK4
(L723F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(A712V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(D1002E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(L696P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(N981S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ULK4
(N662D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(V963M +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, moderate
GLikely benign
ULK4
(R651Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(F648S +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GLikely benign
ULK4
(T625M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ULK4
(R925H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ULK4
(I914L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ULK4
(K603N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ULK4
Deletion
(intron variant)
ULK4-related disorder
GLikely benign
ULK4
(T889M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
ULK4-related disorder
GLikely benign
ULK4
(R862* +1 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, moderate
GLikely benign
ULK4
(V554L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(V549I +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GBenign
ULK4
Single nucleotide variant
(synonymous variant +1 more)
ULK4-related disorder
GLikely benign
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ULK4
(L542M +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GBenign
ULK4
(L842R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(R529G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(I519F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(L503F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
ULK4-related disorder
GLikely benign
ULK4
(D480E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(Y456F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(Y758H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(F753S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ULK4
(I435V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ULK4
Deletion
Schizophrenia
GLikely pathogenic
LOC129389061, LOC129936537
+2 more
Copy number loss
See cases
GLikely benign
ULK4
(I728L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(A413T +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GBenign
ULK4
(I687T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(V686I +1 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, moderate
+1 more
GLikely benign
ULK4
(R674K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(S368L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(S640A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
ULK4
Deletion
Schizophrenia
GLikely pathogenic
ULK4
(L301S +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GBenign
ULK4
(R294G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(P595T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(K290N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(intron variant)
ULK4-related disorder
GLikely benign
ULK4
(V585I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(K267R +1 more)
Single nucleotide variant
(missense variant +1 more)
ULK4-related disorder
GBenign
ULK4
(I259V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(I554V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCK, LOC121009659
+36 more
Copy number gain
See cases
GUncertain significance
ULK4
(V550I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(E241K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ULK4
(A542T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
ULK4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
ULK4
(R527Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(I224M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCK, LOC121009659
+28 more
Copy number gain
See cases
GUncertain significance
ULK4
(H205P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
(S172F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
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