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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
BCAT2, CA11
+45 more
Copy number gain
See cases
GUncertain significance
DBP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DBP
(H228R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(R226Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(R188W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(T186I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP, LOC130064871
(A171S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP, LOC130064871
(R163G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP, LOC130064871
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DBP, LOC130064871
(A149V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP, LOC130064871
(P142L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(P110L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(P95A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP, LOC130064872
(G79V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(P59L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(E53D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(C47Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(G24S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DBP
(P23R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBP
(L15V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
BCAT2, CA11
+26 more
Copy number gain
not provided
GLikely pathogenic
GRIN2D, GRWD1
+228 more
Copy number gain
not provided
Gnot provided
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
HSD17B14, IZUMO1
+58 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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