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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
LOC130065239, LOC130065240
+41 more
Copy number loss
See cases
GLikely benign
CHMP2A, LOC130065240
+12 more
Copy number gain
See cases
GBenign
MZF1, MZF1-AS1
(V730L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(Q728H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R717G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(H703Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P684H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(G659D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(Q644H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(Q636L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(T618K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P596R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A577D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A570S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(I562T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R560W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R539W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(E538D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
MZF1, MZF1-AS1
(G514R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(T508K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(Q504L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(E502K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A495V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(F485L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P484S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P479L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P476L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P466S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(S448R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(C445S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(T435A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(S424R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(G415R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(G415S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(E388Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A274T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R354T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P346L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(A263T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(R343L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(R336H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(E314D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(L307P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130065244, MZF1
+1 more
(L305P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130065245, MZF1
+1 more
(I292S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MZF1, MZF1-AS1
(G271V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A268E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(G264R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MZF1, MZF1-AS1
(S256F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(E157D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R130W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(E113G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(R108P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(P97L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(G39S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MZF1, MZF1-AS1
(A4V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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