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Items: 1 to 100 of 194

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
CDC6
Single nucleotide variant
not provided
GBenign
CDC6
Single nucleotide variant
(5 prime UTR variant)
Meier-Gorlin syndrome 5
GUncertain significance
CDC6
Single nucleotide variant
(intron variant)
Meier-Gorlin syndrome 5
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(T4A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(Q9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(L19P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(R21W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(R21Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CDC6
(N24S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(K25T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(D31E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(N38K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(R47fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 5
GUncertain significance
CDC6
(P46del)
Microsatellite
(inframe_deletion)
Meier-Gorlin syndrome
+1 more
GUncertain significance
CDC6
(R47H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(A50T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(A50P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(P52L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(S54N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
Meier-Gorlin syndrome 5
+2 more
GBenign/Likely benign
CDC6
(R58H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDC6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDC6
(N63S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(H69R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(P72T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(P72L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
CDC6-related condition
+1 more
GLikely benign
CDC6
(G84S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(H89R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(F98S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(L102R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(N118K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(L121F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(S134A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(E135V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(C138Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(C146R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CDC6
(V147L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
(G154V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDC6
(T155I)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 5
GUncertain significance
CDC6
(V163F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(D170N)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 5
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(R171W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(M179V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(M179T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(R187S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(Y199*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(G205E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(R214W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDC6
(R214Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(K220N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
Duplication
(intron variant)
not provided
GBenign
CDC6
(L223Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(I229V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
Deletion
(frameshift variant)
not provided
GUncertain significance
CDC6
(T238A)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 5
+2 more
GConflicting classifications of pathogenicity
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
(A245P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(E249Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(A259D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(M263V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(M263I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(M264V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDC6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDC6
(H270R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC6
(M271fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CDC6
(T272P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(intron variant)
not provided
GBenign
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDC6
(V280M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDC6
(V282A)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome 5
+1 more
GUncertain significance
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