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Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
LOC130056380, LOC130056381
+755 more
Copy number loss
See cases
GPathogenic
LOC130056535, LOC130056536
+671 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+667 more
Copy number loss
See cases
GPathogenic
LOC130056604, LOC130056605
+654 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+632 more
Copy number loss
See cases
GPathogenic
MIR493, MIR494
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056480, LOC130056481
+571 more
Copy number loss
See cases
GPathogenic
IGHV1-46, IGHV1-58
+561 more
Copy number loss
See cases
GPathogenic
MIR6765, MIR8071-1
+441 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+397 more
Copy number loss
See cases
GPathogenic
LOC130056644, LOC130056645
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+367 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+304 more
Copy number gain
See cases
GPathogenic
ASPG, ATP5MJ
+72 more
Copy number gain
See cases
GUncertain significance
PPP1R13B
(R1085Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R1067Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(D1066E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R1063C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R1051H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(I1048V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP1R13B
(A982V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP1R13B
(V947A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(I936V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(A931T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP1R13B
(V929I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(L889P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(G881R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R867W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(K866E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P855S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(G844E)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPP1R13B
(P841L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P841S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(I833F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(Q832H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(T830M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P816L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(T810A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(E800K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P799S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(N792S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(A775T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(E770K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(N764S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP1R13B
(M752I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(M737V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R729H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP1R13B
(G718S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(I711V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R668W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(V663M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P657S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(D652E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PPP1R13B
(D652N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(T633M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP1R13B
(S616L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(H598Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P595L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(S562A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(G561E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P555T)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPP1R13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP1R13B
(V524L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(Q517K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(Q511H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(A505T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P504S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(T501I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P495T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(A492T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P452L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPP1R13B
(P450H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(T437M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(S414I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R380I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(S371R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(P348R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(S340L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R316H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(R316C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(E294D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(E294V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPP1R13B
(S287P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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