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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+123 more
Copy number loss
See cases
GPathogenic
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
BICRA, BICRA-AS2
+45 more
Copy number gain
See cases
GLikely benign
BICRA, BICRA-AS2
+56 more
Copy number loss
Cone-rod dystrophy 2
GUncertain significance
C5AR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C5AR2
(R19L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C5AR2
(R19H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V21G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(P33L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R35H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(A44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V48L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R65C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R66Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C5AR2
(V68L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(A70V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(H75Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V78M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(A95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R96C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(P101Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V122I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(L124F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(G138R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C5AR2
(T144M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R147W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(G150R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
C5AR2
(P168L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(I171T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R174Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(E197K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(A199T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(I203L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R204P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5AR2
(C219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(A222T)
Single nucleotide variant
(missense variant)
not provided
GBenign
C5AR2
(R229Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R230C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(L251M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V255A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(R271Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(L281F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C5AR2
(A282S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(P288L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(F291C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(L299V)
Single nucleotide variant
(missense variant)
not provided
GBenign
C5AR2
(R300C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(Q315R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(H329R)
Single nucleotide variant
(missense variant)
not provided
GBenign
C5AR2
(V332A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5AR2
(V337A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP2S1, ARHGAP35
+25 more
Copy number gain
Coffin-Siris syndrome 12
GLikely pathogenic
ZNF541, EHD2
+17 more
Copy number gain
not provided
GUncertain significance
OPA3, PPP1R37
+74 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
BICRA, C5AR1
+7 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
AP2S1, ARHGAP35
+33 more
Copy number gain
not provided
GPathogenic
AP2S1, ARHGAP35
+13 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
AP2S1, ARHGAP35
+46 more
Copy number loss
See cases
GLikely pathogenic
BBC3, C5AR1
+6 more
Copy number gain
See cases
GUncertain significance
ARHGAP35, BBC3
+9 more
Copy number gain
See cases
GLikely pathogenic
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