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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC112935964, LOC112935965
+171 more
Copy number gain
See cases
GLikely pathogenic
ABHD10, ABI3BP
+431 more
Copy number loss
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
CCDC54-AS1, LOC123002328
+682 more
Copy number loss
Chromosome 3q13.31 deletion syndrome
GPathogenic
ARL6, CRYBG3
+2 more
Copy number gain
See cases
GUncertain significance
ARL6, CRYBG3
+1 more
Copy number loss
Bardet-Biedl syndrome
GLikely pathogenic
ABHD10, ABI3BP
+398 more
Copy number loss
See cases
GPathogenic
CRYBG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRYBG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRYBG3
(G1408E)
Single nucleotide variant
(missense variant)
not provided
GBenign
CRYBG3
(S1432L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CRYBG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRYBG3
(P1662T)
Single nucleotide variant
(missense variant)
not provided
GBenign
CRYBG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRYBG3
(V1781M)
Single nucleotide variant
(missense variant)
not provided
GBenign
CRYBG3
(E2281K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CRYBG3
(K2380R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CRYBG3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GABRR3, ARL6
+9 more
Copy number loss
See cases
GUncertain significance
ABI3BP, ADGRG7
+41 more
Copy number gain
not specified
GUncertain significance
CRYBG3, GABRR3
+8 more
Copy number loss
not provided
GUncertain significance
ARL6, CRYBG3
+13 more
Copy number gain
not provided
GUncertain significance
ARL6, CRYBG3
+3 more
Copy number gain
not provided
GUncertain significance
ARL13B, ARL6
+47 more
Copy number gain
not provided
GLikely pathogenic
ARL6, CRYBG3
Copy number loss
not provided
GUncertain significance
OR5AC2, GPR15
+39 more
Copy number loss
not provided
GLikely pathogenic
OR5H2, OR5H6
+15 more
Copy number gain
not provided
GUncertain significance
GABRR3, OR5H1
+7 more
Copy number gain
not provided
GUncertain significance
ARL6, CRYBG3
+1 more
Copy number gain
not provided
GUncertain significance
ARL6, CRYBG3
+1 more
Copy number gain
not provided
GUncertain significance
CRYBG3, GABRR3
+9 more
Copy number gain
See cases
GUncertain significance
ARL6, CRYBG3
+12 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
CRYBG3, GABRR3
+1 more
Copy number loss
See cases
GUncertain significance
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