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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
ANKRD30A, CCDC7
+119 more
Copy number gain
See cases
GPathogenic
KIF5B
(V955M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(A954V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(S938N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(D855E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(R851L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC126860907
(S833T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC126860907
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF5B
(H766R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(H751R)
Single nucleotide variant
(missense variant)
Brain atrophy
+4 more
GLikely pathogenic
KIF5B
(T731I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(V723A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(Q704H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(Q703R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(Q699*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KIF5B
Indel
(splice donor variant)
not provided
GUncertain significance
KIF5B
(E648A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(Q610R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(V589A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(M582V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
Single nucleotide variant
(intron variant)
not provided
GBenign
KIF5B
Deletion
not provided
GUncertain significance
KIF5B
(A552S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(K539Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(L537P)
Single nucleotide variant
(missense variant)
Global developmental delay
+5 more
GPathogenic
KIF5B
(I533L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(L530S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(S527L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KIF5B
(L498P)
Single nucleotide variant
(missense variant)
Feeding difficulties
+3 more
GPathogenic
KIF5B
(N481H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(A479V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(T451M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(E447Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(A416T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(A406T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KIF5B
(N400S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(I298V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(S289A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
(R278Q)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KIF5B
(N255del)
Microsatellite
(inframe_deletion)
Primary dilated cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
KIF5B
(K252T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(T87I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(I81M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC126860908
(F52L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B, LOC130003643
(L18F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF5B
Copy number loss
not provided
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ARHGAP12, CCDC7
+9 more
Copy number loss
not provided
GPathogenic
KIF5B, ZEB1
+2 more
Copy number loss
not provided
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
CREM, CUL2
+10 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
KIF5B
(Q86K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5B
(K420N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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