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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ADAM23, C2orf80
+131 more
Copy number loss
See cases
GPathogenic
ACADL, C2orf80
+96 more
Copy number loss
See cases
GPathogenic
LOC129935523, RPE
(L27V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RPE
(H42R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
RPE
(A35G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPE
(E126D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPE
(E154Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPE
(K177E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPE
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RPE
(N161S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACADL, CPS1
+5 more
Duplication
not provided
GUncertain significance
ABI2, ACADL
+95 more
Copy number loss
not specified
GPathogenic
ABI2, ACADL
+38 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
MYL1, RPE
+6 more
Deletion
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
ABI2, ACADL
+44 more
Deletion
Primary pulmonary hypertension
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ACADL, ADAM23
+36 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
ACADL, CPS1
+6 more
Deletion
Trichorhinophalangeal dysplasia type I
GUncertain significance
AAMP, ABCA12
+60 more
Copy number gain
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
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